Materiały źródłowe

• #1 Microcephaly – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/microcephaly/diagnosis-treatment/drc-20375056

  To determine if your child has microcephaly, your provider likely will take a thorough prenatal, birth and family history and do a physical exam. Your provider will measure the circumference of your child’s head, compare it with a growth chart, and remeasure and plot the growth at future visits. Parents’ head sizes also may be measured to determine whether small heads run in the family. […] In some cases, particularly if your child’s development is delayed, your health care provider may order a head CT scan or MRI and blood tests to help determine the underlying cause of the delay.

• #1 Microcephaly | Birth Defects | CDC

  https://www.cdc.gov/birth-defects/about/microcephaly.html

  Microcephaly can be diagnosed during pregnancy through ultrasound, or after the baby is born. […] Prenatal diagnosis of microcephaly can be done late in the second or early in the third trimester. […] To diagnose microcephaly after birth, a healthcare provider will measure the head circumference of the baby. This is a measure of the distance around the baby’s head. The provider then compares this measurement to population standards using CDC charts (based on age and sex) or INTERGROWTH 21st (based on age, sex, and pregnancy duration). Microcephaly is a head circumference that is significantly smaller than the average for babies of the same age and sex. […] Commonly used birth head circumference reference charts are based on measurements taken before 24 hours of age. So, it is common to measure a baby’s head circumference in the first 24 hours.

• #1 The Fetal Medicine Foundation

  https://fetalmedicine.org/education/fetal-abnormalities/brain/microcephaly

  Microcephaly […] Prevalence: […] 1 in 1,000 births. […] 80% of affected infants have a normal head circumference at birth and 90% of affected individuals had a normal head circumference in the second trimester. […] Ultrasound diagnosis: […] Ultrasound diagnosis is made usually in the late second and third trimesters. […] The fetal head circumference to abdominal circumference ratio is below the 3rd percentile (2 standards deviations below the normal mean for gestational age). […] There is slopping forehead due to the disproportion of the frontal lobes and the face. […] In most cases presenting in the second trimester there is associated holoprosencephaly or encephalocele and in those presenting in the third trimester there are abnormalities of sulcation or neuronal migration.

• #1 The diagnosis of fetal microcephaly – PubMed

  https://pubmed.ncbi.nlm.nih.gov/6742021/

  Of 16 fetuses in whom microcephaly was suspected, nine (56.2%) were affected with microcephaly, and seven (43.8%) were unaffected. […] Three standard deviations from the mean for biparietal diameter, occipitofrontal diameter, head perimeter, and femur length:head perimeter were sensitive thresholds for the diagnosis of fetal microcephaly with no false negative diagnoses. […] Four standard deviations from the mean for occipitofrontal diameter, head perimeter:abdominal perimeter, and femur length:head perimeter were specific tests with no false positive diagnoses. […] The use of multiple diagnostic tests was necessary to improve accuracy in the diagnosis of fetal microcephaly. […] Further clinical studies are needed to delineate more clearly optimal tests and thresholds of abnormality.

• #1 The Fetal Medicine Foundation

  https://fetalmedicine.org/education/fetal-abnormalities/brain/microcephaly

  Associated abnormalities: […] Chromosomal abnormalities are rare and the most common are trisomies 13, 18 and 21. […] Genetic syndromes are very common, most of them being caused by single gene defects with either autosomal recessive or X linked patterns of inheritance. The most common are: Meckel-Gruber, Walker-Walburg, Miller-Diecker, Smith-Lemli-Opitz, Seckel syndrome. […] Investigations: […] Detailed ultrasound examination, including neurosonography. […] Invasive testing for karyotyping and array. […] TORCH test for fetal infections. […] Fetal brain MRI at 32 weeks gestation for diagnosis of abnormalities of neuronal migration, such as lissencephaly and polymicrogyria. […] Follow up: […] Ultrasound scans every 4 weeks to monitor the evolution of head circumference.

• #1 Microcephaly/Ultrasound/Prenatal Diagnosis – CdLS World

  https://www.cdlsworld.org/xwiki/bin/view/ATEPublic/ATE000135

  Microcephaly has been detected on the ultrasound of my unborn child. The doctors have suggested CdLS as a possible diagnosis. An MRI and amniocentesis are to be done. Amniocentesis will detect any chromosomal rearrangement that could be causing microcephaly. An MRI of the fetus will detect any structural changes, including the brain. Neither of these will help with a diagnosis of CdLS, which can only be made clinically, but both may help diagnosis of another condition. Usually fetuses with CdLS will have small size as well as microcephaly, and might have some other ultrasound findings, which are nonspecific. […] If a prenatal ultrasound scan (sonography) detects features consistent with CdLS, possibilities for prenatal genetic testing should be discussed with the parents. […] If a causative gene change has been detected in an earlier child or pregnancy, reliable prenatal diagnostic testing should be discussed with the family. Targeted variant testing can be performed using DNA derived from the placenta or amniotic fluid.

• #1 Congenital microcephaly: Case definition & guidelines for data collection, analysis, and presentation of safety data after maternal immunisation

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5710988/

  Congenital microcephaly can be diagnosed either postnatally or prenatally and is usually defined by the measurement of occipital-frontal circumference (head circumference) that is more than 2 standard deviations (SDs) below the mean for age and sex or less than the 3rd percentile for age and sex. […] Severe microcephaly is defined as head circumference more than 3 SDs below the mean for age and sex. […] The goal of developing this guideline is to improve and standardize data collection and interpretation in order to evaluate for associations between maternal immunisation and congenital microcephaly. […] There is no uniformly accepted definition of congenital microcephaly as an adverse event in a fetus or infant following maternal immunisation. […] The case definitions and guidelines are intended to be applicable in diverse geographic, administrative, and cultural regions, adaptable to both high and low resource settings.

• #1 Microcephaly – Pediatrics – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/pediatrics/congenital-craniofacial-anomalies/microcephaly

  Microcephaly is a head circumference 2 standard deviations below the mean for age. […] Diagnosis of Microcephaly […] Prenatally, ultrasound […] Postnatally, physical examination, including measurement of head circumference and cranial imaging […] Genetic testing […] Prenatally, the diagnosis of microcephaly sometimes is made with ultrasound done in the late second or early third trimester. […] Postnatally, evaluation should include detailed prenatal history to identify risk factors, developmental and neurologic assessment, and brain MRI or CT. […] A clinical geneticist should evaluate affected patients even in cases of apparent isolated congenital anomaly. […] Chromosomal abnormalities can occur with microcephaly. […] A gene panel test specific for microcephaly is available through several diagnostic laboratories. […] Chromosomal microarray analysis, or broader gene panel tests also should be considered in the evaluation of patients with microcephaly. […] If the results of these tests are nondiagnostic, whole exome sequencing analysis may be recommended.

• #1 Microcephaly: Symptoms, Causes & Outlook

  https://my.clevelandclinic.org/health/diseases/9843-microcephaly

  A healthcare provider can sometimes diagnose microcephaly before birth by prenatal ultrasound. This diagnosis, with the fetus still in the uterus, happens late in the second trimester or the third trimester. […] A diagnosis most often happens within 24 hours after your baby is born. A healthcare provider will measure your babys head circumference (all the way around). Then, theyll compare your babys measurement to growth standards for their age, which takes into account your babys length and weight. […] If your baby has acquired microcephaly, a healthcare provider will diagnose the condition in infancy when symptoms become apparent. During a physical exam, your babys healthcare provider will measure your childs head circumference. They may ask questions about your childs progress in reaching developmental milestones for their age, like crawling or walking.

• #1 Microcephaly: Causes, symptoms, and treatment

  https://www.medicalnewstoday.com/articles/305880

  Occasionally, a doctor may detect the presence of microcephaly on a second- or third-trimester ultrasound and diagnose the anomaly before the birth of the infant. […] For a child to receive a diagnosis of microcephaly after birth, they will undergo an in-depth examination process. […] The diagnostic process for microcephaly can include: a physical exam, including an evaluation of head circumference, family history and evaluating the head sizes of the parents, charting head growth over time. […] Once a doctor diagnoses microcephaly, doctors could also use CT or MRI scans and blood tests to evaluate the severity and cause of the microcephaly, as well as any other associated conditions. […] Some of these tests might also provide the healthcare team with information about the presence of an infection in utero that may have caused structural brain changes.

• #1 Microcephaly | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/microcephaly

  Head circumference. This measurement is compared with a scale for normal growth and size. […] X-ray. A diagnostic test which uses invisible electromagnetic energy beams to produce images of internal tissues, bones, and organs onto film. […] Computed tomography scan (also called a CT or a CAT scan). A diagnostic imaging procedure that uses a combination of X-rays and computer technology to produce horizontal, or axial, images (often called slices) of the body. A CT scan shows detailed images of any part of the body, including bones, muscles, fat, and organs. CT scans are more detailed than general X-rays. […] Magnetic resonance imaging (MRI). A diagnostic procedure that uses a combination of large magnets, radiofrequencies, and a computer to produce detailed images of organs and structures within the body. […] Blood tests […] Urine tests […] Your child’s doctor will also ask about developmental milestones since microcephaly can be associated with developmental problems, such as intellectual disability. Developmental delays may require further medical follow-up to address any underlying problems.

• #1 Microcephaly | Birth Defects | CDC

  https://www.cdc.gov/birth-defects/about/microcephaly.html

  Head circumference measurements may be influenced by factors related to delivery that might alter the shape of the baby’s head. If the baby’s head was affected by the delivery, a provider might wait longer than 24 hours. […] If the healthcare provider suspects microcephaly, he or she can request tests to help confirm the diagnosis and look for other problems. For example, magnetic resonance imaging can provide information on the structure of the baby’s brain.

• #1 Microcephaly | Loma Linda University Children’s Health

  https://lluch.org/conditions/microcephaly

  Ultrasound. Sound waves form a picture of the brain and other structures. […] CT scan. This test uses a series of X-rays and a computer to create images of the inside of the body. A CT scan shows more detail than a regular X-ray. […] MRI. This test uses large magnets, radio waves, and a computer to make images of the inside of the body. […] Blood tests. These include genetic tests. Genetic tests check for conditions that tend to run in families. […] Urine test. This is done to look for a substance that may show a certain type of microcephaly.

• #1 Microcephaly | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/microcephaly?lang=us

  In addition, the diagnosis should be reserved for cases where there is a significant discrepancy between the head size and the rest of the body. […] Both MRI and CT (to a lesser degree) are able to assess the underlying brain. The brain may be small but structurally normal, or may demonstrate a variety of abnormalities including a simplified gyral pattern, lissencephaly, various grey matter heterotopias and polymicrogyria. […] When structurally abnormal, the corpus callosum is often abnormally small or incompletely formed (corpus callosal dysgenesis). Brainstem and cerebellar abnormalities may also be present and should be reported.

• #1 Athena Diagnostics

  https://www.athenadiagnostics.com/view-full-catalog/primary-microcephaly-sequencing-evaluation1

  Test code: 1186 Type of disorder: Neurodevelopmental Disorders Disease(s) tested for: Primary Microcephaly Genes Included: ASPM, MCPH1, WDR62, Tests included: ASPM Sequencing TestMCPH1 Sequencing TestWDR62 Sequencing Test Informed Consent Required: This test requires physician attestation that patient consent has been received […] Clinical Significance: Detects sequence variants in ASPM, MCPH1, and WDR62 genes in patients with primary microcephaly (PM). PM is a reduced occipitofrontal circumference of the head that is at least four standard deviations (SD) and is caused by congenital insufficiency during fetal brain development. Primary microcephaly is present at birth and is a static developmental anomaly, whereas secondary microcephaly develops postnatally and is a progressive neurodegenerative condition.

• #1 Primary microcephaly and differential diagnosis – Health in Code

  https://healthincode.com/en/panels/neuropediatrics/congenital-anomalies-of-the-cns/primary-microcephaly-and-differential-diagnosis/

  Primary microcephaly refers to the clinical finding of a head circumference more than 3 standard deviations below the mean for the same age and sex, present at birth or in the first months of life. It is a static anomaly of brain development consisting of a simplification of the cerebral cortical gyration pattern and a slight reduction in the volume of the white matter, but a normal brain architecture, without alterations in neuronal migration. People with this condition almost always have mental retardation. Additional clinical features may include short stature or seizures. […] The benefits derived from a genetic diagnosis in this context are especially aimed at completing the diagnosis and family genetic counseling. […] Service indicated when microcephaly is detected at birth or during the first months of life, without other data suggestive of a syndromic entity. […] Virtual panel based on whole exome sequencing, aimed at the analysis of all genes of moderate, high and low evidence related to primary microcephaly, as well as those associated with differential diagnosis entities.

• #1 Microcephaly – Symptoms & causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/microcephaly/symptoms-causes/syc-20375051

  Microcephaly usually is the result of a problem with brain development, which can occur in the womb (congenital) or during infancy. […] Chances are your health care provider will detect microcephaly at your baby’s birth or at a regular well-baby checkup. However, if you think your baby’s head is small for the baby’s age and sex or isn’t growing as it should, talk to your provider. […] Using standardized growth charts, health care providers compare the measurement with other children’s measurements in percentiles. […] A child with more-severe microcephaly may also have a sloping forehead. […] Learning your child has microcephaly can raise questions about future pregnancies. Work with your health care provider to determine the cause of the microcephaly. If the cause is genetic, you may want to talk to a genetics counselor about the risk of microcephaly in future pregnancies.

• #1 Congenital microcephaly: Case definition & guidelines for data collection, analysis, and presentation of safety data after maternal immunisation

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5710988/

  The timing of clinical recognition of congenital microcephaly varies by setting. […] Thus, congenital microcephaly can be classified as diagnosed postnatally or prenatally, based exclusively on the timing of when the diagnosis of microcephaly is made. […] We have incorporated this additional level of classification into our case definition. […] The case definition has been formulated such that the Level One definition is highly specific for the condition. […] As noted above, congenital microcephaly may exist alone, in the presence of other congenital anomalies, or as part of a syndrome. […] We have also included radiology findings, specifically fetal ultrasound examination results, for use in the prenatal definition for congenital microcephaly. […] Laboratory findings are not included in the case definition. However laboratory data (e.g., genetic test results) should be included as supportive data as many known causes of congenital microcephaly can be diagnosed through laboratory studies.

• #1 Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly | BMC Medical Genomics | Full Text

  https://bmcmedgenomics.biomedcentral.com/articles/10.1186/s12920-024-01999-0

  This case expands our understanding of the molecular basis of dual Mendelian disorders and highlights the importance of considering the possibility of dual molecular diagnoses in patients with phenotypic features that are not fully accounted for by their primary diagnosis. […] The patients additional phenotypic features were consistent with MFDM, although choanal atresia cleft palate or zygomatic arch cleft were not observed in our patient. […] Accordingly, an additional diagnosis of MFDM was made in our patient. We conclude that this patient exhibits a blended phenotype, with features of both achondroplasia and MFDM. […] This case underscores the complexity of genetic disorders and the interplay of different biological processes in growth and development. […] It also highlights the importance of comprehensive genetic testing in providing accurate diagnosis and guiding management for patients with complex phenotypes. […] The increased identification of dual molecular diagnoses represents a significant shift in the field of Genomic Medicine.

• #1 Microcephaly in infants and children: Etiology and evaluation – UpToDate

  https://www.uptodate.com/contents/microcephaly-in-infants-and-children-etiology-and-evaluation

  OFC measurements are most informative when plotted over time. […] In the United States, the Centers for Disease Control and Prevention (CDC) recommend that the World Health Organization growth standards be used for children age zero to two years and the CDC growth charts be used for children age two to three years. […] Microcephaly — Given that microcephaly is a sign rather than a diagnosis, we define microcephaly with qualifying terms.

• #1 Microcephaly: A clinical genetics approach – UpToDate

  https://www.uptodate.com/contents/microcephaly-a-clinical-genetics-approach

  It can be difficult to measure OFC accurately in children with severe microcephaly without the landmark of the occiput. It is important to record measurements rather than percentiles, as head circumference charts vary, especially up to the age of three years. Use the most recent culturally and ethnically relevant charts to determine percentiles.

• #1 Microcephaly | MedLink Neurology

  https://www.medlink.com/articles/microcephaly

  Microcephaly is defined as a head circumference of less than three standard deviations from the population mean for age and gender. […] Advances in neuroimaging and genetic testing have value for the diagnosis and prognosis of microcephaly. […] The American Academy of Neurology and Child Neurology Society have published an evidence-based review with recommendations for evaluating a child with microcephaly. […] Microcephaly is a neurologic sign and clinical finding, not a diagnosis by itself, and it can be caused by many different underlying etiologies. […] A diagnostic workup should be planned after a detailed evaluation of the history and physical findings. Imaging studies of the brain are usually indicated unless clinical features are strongly suggestive of an obvious syndrome, such as Down syndrome, or in cases of autosomal dominant microcephaly with normal cognitive function, where imaging studies are unlikely to add much information in patient management.

• #1 Microcephaly Differential Diagnoses

  https://emedicine.medscape.com/article/2500048-differential

  The main differential consideration is to first determine if the patient has craniosynostosis, a problem with brain growth, or no issues beyond head size. If the etiology is determined to be a problem of brain growth, the clinician should then differentiate between a progressive or static insult. […] The degree of microcephaly may play a role in the physicians likelihood to pursue further workup. Children with a head circumference more than 3 standard deviations below normal are more likely to have underlying structural abnormalities than children with a head circumference between 2 and 3 standard deviations below normal.

• #1

  https://www.who.int/news-room/fact-sheets/detail/zika-virus

  Zika virus infection during pregnancy can cause infants to be born with microcephaly and other congenital malformations as well as preterm birth and miscarriage. […] When Zika virus emerged in the Americas, with a large epidemic in Brazil in 2015, an association between Zika virus infection and microcephaly (smaller than normal head size) was first described; there were similar findings in French Polynesia upon retrospective review. […] Zika virus infection during pregnancy is a cause of microcephaly and other congenital malformations in the infant, including limb contractures, high muscle tone, eye abnormalities and hearing loss. These clinical features are collectively referred to as congenital Zika syndrome. […] The risk of congenital malformations following infection in pregnancy remains unknown; an estimated 5-15% of infants born to women infected with Zika virus during pregnancy have evidence of Zika-related complications.

• #1 Microcephaly | March of Dimes

  https://www.marchofdimes.org/find-support/topics/planning-baby/microcephaly

  Microcephaly may be caused by problems with brain development or being exposed to alcohol and certain drugs, chemicals and infections in the womb. […] Zika virus infection during pregnancy causes microcephaly. If you’re pregnant and think you may have Zika, call your health care provider. […] Treatment for microcephaly depends on your baby’s condition. […] You may find out your baby has microcephaly during pregnancy or after he’s born. During pregnancy, your health care provider may diagnose microcephaly using ultrasound late in the second trimester or early in the third trimester. Ultrasound is a prenatal test that uses sound waves and a computer screen to show a picture of your baby inside the womb. […] To diagnose microcephaly after birth, your baby’s provider measures your baby’s head circumference during a physical exam. Head circumference is the distance around your baby’s head. Your baby’s provider then compares your baby’s measurement to that of other babies of the same sex and age.

• #1 Diagnostic Algorithm for Microcephaly | Pediatric Neurology Briefs

  https://pediatricneurologybriefs.com/articles/10.15844/pedneurbriefs-27-11-9

  Investigators from Addenbrookes Hospital, Cambridge, UK, provide a diagnostic structure to follow when presented with a child with microcephaly. An occipital-frontal-circumference (OFC) of 3SD below the age and sex expected is the definition used for microcephaly. […] In primary cases check for maternal and environmental factors including the TORCH screen, MRI, and fetal brain imaging. […] Rubinstein-Taybi syndrome is a Mendelian disorder causing secondary microcephaly and learning disorders. The diagnosis is clinical (distinctive facies, broad thumbs/big toes and postnatal growth retardation) and is confirmed by mutations in the CREBBP, EP300 or SRCAP gene. […] If secondary microcephaly is associated with progressive neurologic findings, metabolic diseases should be considered. Genetic disorders such as Rett, PEHO, Cockayne, and Cohen syndromes are examples of secondary microcephaly where diagnosis by DNA testing is available. […] A knowledge of neurological syndromes is helpful in the differential diagnosis of microcephaly.

• #1 Microcephaly (Small Head) and Birth Injuries | ABC Law Centers: Birth Injury Lawyers

  https://www.abclawcenters.com/practice-areas/microcephaly/

  Microcephaly is a diagnosis given to infants with a head significantly smaller than what is considered standard. A diagnosis of microcephaly in a baby can be an indication that the baby suffered hypoxic-ischemic encephalopathy (brain damage caused by limited oxygen at or around the time of birth), which can increase the risk of cerebral palsy, developmental delays, and other serious disabilities (1). […] A microcephaly diagnosis is made based upon the circumference of the baby’s head in relation to the standard circumference for babies of a similar age and gender. Sometimes microcephaly can be diagnosed during the late second trimester or third trimester via ultrasound, but most often it is diagnosed after the baby is born. After birth, microcephaly is diagnosed by measuring the distance around the newborn’s head and comparing it to a standardized growth chart. In addition, further tests such as MRI scans can be run to help confirm a microcephaly diagnosis (1).

• #1 Microcephaly – Children’s Health Issues – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/children-s-health-issues/birth-defects-of-the-brain-and-spinal-cord/microcephaly

  Microcephaly can be caused by many disorders, including genetic abnormalities, infections, and brain defects, or can sometimes run in families. […] Diagnosis is made before birth by doing ultrasound tests or after birth by measuring the head circumference. […] Doctors usually do imaging tests to look for brain abnormalities and sometimes blood tests to look for a cause. […] Before birth, the diagnosis of microcephaly sometimes is made with a routine prenatal ultrasound test done late in the second trimester or early in the third trimester. […] After birth, doctors measure a baby’s head circumference (the measurement of the head around its largest area) during routine physical examinations. They diagnose microcephaly when the head circumference is significantly smaller than the normal range for babies of the same sex, age, and ethnic group in the region where the baby lives.

• #1 Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly | BMC Medical Genomics | Full Text

  https://bmcmedgenomics.biomedcentral.com/articles/10.1186/s12920-024-01999-0

  Achondroplasia and mandibulofacial dysostosis with microcephaly (MFDM) are rare monogenic, dominant disorders, caused by gain-of-function fibroblast growth factor receptor 3 (FGFR3) gene variants and loss-of-function elongation factor Tu GTP binding domain-containing 2 (EFTUD2) gene variants, respectively. […] Given the complexity of her phenotype, she was recruited to the DDD (Deciphering Developmental Disorders) study and the 100,000 Genomes project for further investigation. Subsequent identification of a complex EFTUD2 intragenic rearrangement confirmed an additional diagnosis of mandibulofacial dysostosis with microcephaly (MFDM). […] This report presents the first case of a dual molecular diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly in the same patient.

• #1 Microcephaly

  https://www.uspharmacist.com/article/microcephaly

  Microcephaly may be present at birth or may occur during infancy or early childhood. […] A diagnosis of microcephaly may be made when an ultrasound shows a smaller-than-normal fetal head circumference in the 6th or 7th month of pregnancy. Diagnosis also may be made when a newborn is measured (within 24 hours of birth). During infancy and early childhood, the head circumference is checked at regular intervals and the measurement is compared with growth standards. […] There is no procedure or treatment that will change the shape or size of the head in a child with microcephaly. The goal of treatment is to optimize the childs physical and intellectual development by focusing on specific problems that can be corrected or improved. Often, this means support in the form of physical therapy, speech therapy, hearing and vision correction, special education in school, and similar care. If medical problems such as epilepsy develop, drug therapy is appropriate for seizure control.

• #1 Microcephaly: Causes, Symptoms, Diagnosis, Treatment

  https://www.gillettechildrens.org/conditions-care/microcephaly

  Microcephaly is a neurological condition that occurs when an infants brain doesnt develop properly, causing a babys head to be small. […] In most cases, microcephaly is present before or at birth. An obstetrician might be able to diagnose congenital microcephaly using a prenatal ultrasound. […] When symptoms of microcephaly appear later in infancy or childhood, neurologists at Gillette Childrens might diagnose it by reviewing your childs medical history, performing a physical exam, and discussing with other specialists. […] Additional tests used to diagnose microcephaly might include: Measuring the circumference of your childs head. Measuring the circumference of the parents heads to determine if small head size runs in the family. CT scan of the head. MRI scan of the head. Lab tests for evidence of past infection or possible genetic causes. […] Its difficult to predict at birth what lifelong issues microcephaly will cause. […] Theres no cure for microcephaly. However, many symptoms of the condition can be managed with routine care, monitoring, and therapies.

• #1 Can a Child With Microcephaly Be Normal?

  https://www.medicinenet.com/can_a_child_with_microcephaly_be_normal/article.htm

  There is no cure for microcephaly, and the complications cant be reversed. Surgery is available only for craniosynostosis. Treatment of a child with microcephaly involves a team of doctors, teachers, therapists, and other healthcare professionals. Treatment includes management of the childs condition with speech therapy and physical and occupational therapy to strengthen their abilities and improve their quality of life. Medication may be prescribed to treat certain complications of microcephaly such as seizures and hyperactivity. Hearing problems may be managed with devices to aid hearing such as hearing aids. Vision problems can be managed with prescription eyeglasses. […] Surgery for craniosynostosis involves the separation of the fused skull bones. If there are no other problems in the brain, following surgery, there is adequate space created, allowing the brain to grow and develop normally.

• #1 Microcephaly | March of Dimes

  https://www.marchofdimes.org/find-support/topics/planning-baby/microcephaly

  Babies with severe microcephaly may need special care and treatment. Babies with craniosynostosis may need to have surgery to help separate the fused bones in their heads and give the skull the ability to expand as the brain grows and develops. Some babies need to take medicines to treat seizures or other health problems.

• #1 Microcephaly

  https://www.isuog.org/clinical-resources/patient-information-series/patient-information-pregnancy-conditions/brain/microcephaly.html

  After delivery, you might be referred to a physician who specializes in treating babies like yours, such as a pediatric neurologist. They can monitor your babys continued growth and development and work with you to devise a treatment plan that suits your babys individual needs. While there is no specific treatment for microcephaly, early intervention with stimulation and play programs is beneficial, as well as working with specialized personnel (for example, physical, occupational, or speech therapists, and others).

• #1 The Fetal Medicine Foundation

  https://fetalmedicine.org/education/fetal-abnormalities/brain/microcephaly

  Delivery: […] Standard obstetric care and delivery. […] Prognosis: […] Isolated: the risk of neurodevelopmental delay increases with decreasing head circumference from 10% if the circumference is 2 to 3 standard deviations (SD) below the normal mean for gestational age, to 100% if 4 SD’s. […] Syndromic: the prognosis depends on the underlying condition. […] Recurrence: […] No associated structural defects: 5-10%. […] Familial form of isolated microcephaly: 25%.

• #1 Microcephaly | Contact

  https://contact.org.uk/conditions/microcephaly/

  Prenatal diagnosisIt is unusual for genetic microcephaly to be diagnosed by ultrasound scan in early pregnancy, but a reduction in fetal brain growth may be discovered by scans undertaken during the last few months of pregnancy. In the future in many families, DNA-based tests will be available to diagnose genetic microcephaly in early pregnancy.

• #1 Microcephaly in Children – Stanford Medicine Children’s Health

  https://www.stanfordchildrens.org/en/topic/default?id=microcephaly-in-children-90-P02610

  Microcephaly may be diagnosed before birth by prenatal ultrasound. This imaging test uses high-frequency sound waves and a computer to make images of blood vessels, tissues, and organs. Ultrasounds let healthcare providers see the internal organs as they function. They also show blood flow through blood vessels. In many cases, microcephaly may not be seen with ultrasound until the third trimester. […] After birth, the healthcare provider will ask about your child’s health history. He or she may ask about your pregnancy and health history, and your family’s health history. The provider will give your child a physical exam. […] Your child may have tests, such as: Head circumference measurement. The measurement is compared with a scale for normal growth and size. […] Microcephaly is a lifelong condition that has no cure. Treatment focuses on preventing or reducing problems and maximizing a child’s abilities. […] Children born with microcephaly need to see their healthcare team often. They will need tests to track the growth of the head. Their motor, social, intellectual, and language function will be tracked over time.

• #1 Microcephaly

  https://www.isuog.org/resource/microcephaly.html

  Some babies with microcephaly may not develop any other symptoms apart from the small head, and having a small head is not necessarily a predictor of your childs functional outcome. Others may however develop certain problems depending on the cause of the microcephaly, which can include developmental delays or learning difficulties, problems seeing and/or hearing, cerebral palsy, seizures, and hyperactivity. […] After delivery, you might be referred to a physician who specializes in treating babies like yours, such as a pediatric neurologist. They can monitor your babys continued growth and development and work with you to devise a treatment plan that suits your babys individual needs. While there is no specific treatment for microcephaly, early intervention with stimulation and play programs is beneficial, as well as working with specialized personnel (for example, physical, occupational, or speech therapists, and others).

• #1 Microcephaly | MedLink Neurology

  https://www.medlink.com/articles/microcephaly

  Genetic evaluations are evolving. […] Chromosomal abnormalities often have implications for genetic counseling; therefore, in cases of undiagnosed microcephaly, chromosomal study is usually indicated even without obvious dysmorphic features. […] Genetic testing may yield a diagnosis in cases of microcephaly, and rates have been reported from 15.5% to 53.3%. […] The overall diagnostic yield of imaging studies to explain the cause of microcephaly ranges from 43% to 80% in the literature. […] The prognosis of microcephalic patients depends largely on their underlying etiology. […] The outcome for intelligence in microcephalic children is generally guarded, and many will have a significant chance of functioning in the low intelligence range. […] However, it is important to keep in mind that the prognosis of each individual case should be made not on the basis of the head circumference alone but through careful evaluation of the history, physical examination, brain imaging, and laboratory studies, including genetic testing.

• #1

  https://journals.lww.com/md-journal/fulltext/2023/12150/prenatal_diagnosis_of_microcephaly_through.67.aspx

  MRI is becoming more and more accepted as a component of the diagnosis for intrauterine microcephaly. However, there is still little agreement on the precise diagnostic standards or imaging parameters that can accurately determine the existence of microcephaly on MRI. […] Besides small head circumference, other abnormalities were detected in 76% of children with microcephaly through MRI examination, including white matter abnormalities (40%), corpus callosum abnormalities (31%), subtentorial lesions (15%), and cortical gyration abnormalities (14%). This suggests that MRI is a more sensitive imaging modality for identifying neurological lesions and microcephaly-related abnormalities. […] The optimal period for fetal MRI is between 28 and 32 weeks of gestation, as it provides the most comprehensive information about fetal brain anatomy. It is advised that fetal MRI be carried out in medical institutions equipped with specialists in fetal central nervous system imaging.

• #1 Microcephaly | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/microcephaly?lang=us

  Microcephaly (plural: microcephalies), also known as microcrania, is a descriptive term meaning a small head associated with numerous disorders of diverse etiology. It is usually associated with microencephaly (plural: microencephalies) (small brain). For the purpose of this article, the two terms will be used interchangeably. […] Microcephaly is usually defined as fetal head measurements (e.g., occipital-frontal circumference) falling under two standard deviations (equivalent to below the 3rd percentile) expected for age and gender. It is important to note that this means that the majority of these individuals are actually normal, but small. […] The detection of microcephaly usually becomes easier as the gestation advances. The small head is best assessed by using the head circumference (HC). The biparietal diameter (BPD) measurement does not help diagnose microcephaly as the head shape can be misleading.

• #1 Azthena logo with the word Azthena

  https://www.news-medical.net/health/What-is-Microcephaly.aspx

  Measuring head circumference (also known as occipito-frontal circumference) is a significant part of the proper evaluation of a child’s growth and development, as it represents a direct indication of head growth. […] The adequate diagnosis of microcephaly and its causes can pose quite a challenge for the physician, as there is a need to pinpoint a correct one amongst an overabundance of pathological conditions. Therefore a multidisciplinary approach that involves the obstetrician, neonatologist, geneticist, neuroradiologist, and child neuropsychiatrist is usually warranted. […] Thus the sonographic diagnosis is currently based on biometric parameters, with the most important diagnostic criterion being a head circumference below 3 SD from the mean. Other biometric parameters (such as head circumference/abdominal circumference ratio and head circumference/femur length ratio) may be useful in doubtful cases.

• #1 Microcephaly: After Diagnosis, a Life of UncertaintyCalifornia Consumer Privacy Act (CCPA) Opt-Out Icon

  https://www.usnews.com/news/articles/2016-03-04/microcephaly-after-diagnosis-a-life-of-uncertainty

  Families Share Stories About Microcephaly […] Microcephaly has multiple causes, and some cases are milder than others. By definition, a person’s head is considered microcephalic when it is „two standard deviations below the mean” of a certain age and sex, meaning that the circumference of the head is smaller than the average size that would normally be observed among these groups. In some people, the back of the head is flat and the forehead is narrow and sloping, according to the nonprofit Birth Defect Research for Children. […] Most of the time, doctors using an ultrasound can only begin to see hints of microcephaly well into the second trimester, at about 24 weeks, and even then it’s difficult for them to predict whether children will face other medical challenges, if any. […] „We see children with significant degrees of microcephaly that do relatively well,” says Dr. Stephen Ashwal, chief of the division of child neurology at Loma Linda University School of Medicine in California, who has written microcephaly guidelines for the American Academy of Neurology. „Those with mild cases have very little in the way of problems. … You can have microcephaly and not have a serious long-term developmental problems.”

• #1

  https://journals.lww.com/md-journal/fulltext/2023/12150/prenatal_diagnosis_of_microcephaly_through.67.aspx

  Intrauterine microcephaly is a complex and lifelong condition that poses significant ethical challenges for clinicians and parents. Ultrasonography (US) is currently the most commonly used imaging modality for detecting microcephaly in the second trimester of pregnancy. However, antenatal brain magnetic resonance imaging (MRI) is increasingly being used as a more sensitive tool to identify structural abnormalities that may suggest a specific diagnosis. In this study, we report a case series of microcephaly diagnosed through the combination of MRI and US. […] Based on the results of US and MRI examinations, patient 1 was found to have other craniocerebral malformations, patient 2 demonstrated macrogyria, and patient 3 exhibited skull irregularities. […] US is an important tool for diagnosing fetal microcephaly. However, MRI can overcome the limitations of US and detect additional brain structural abnormalities, thereby providing more specific and valuable prenatal diagnostic information. Therefore, combining MRI and US has significant diagnostic value for fetal microcephaly.

• #1 Microcephaly

  https://www.isuog.org/clinical-resources/patient-information-series/patient-information-pregnancy-conditions/brain/microcephaly.html

  A Diagnosis of Microcephaly refers to some babies having a small head when measured by ultrasound during pregnancy, and with a tape measure around the head after birth. If the babys head circumference is much smaller than the average head circumference for their age group or the week of pregnancy, he/she is said to have microcephaly. Typically, the measurement would have to be two standard deviations (2SD) or more below the average, or smaller than about 95% of fetuses or babies of the same age, to be described as microcephaly. Ultrasonography for the determination of microcephaly is best done at 28 weeks or in the third trimester of pregnancy. […] Additional testing would be guided by the suspected cause of microcephaly. Other features seen in your babys anatomy could warrant investigations for a specific disease or syndrome. A magnetic resonance imaging (MRI) scan may be needed in certain situations to assist in making a determination of the cause of microcephaly. If a chromosomal abnormality is suspected, genetic testing can be performed; if a viral infection is suspected, maternal and fetal tests, such as a blood draw and/or amniocentesis, can be performed to help determine if the baby was infected.

• #1 Microcephaly | Contact

  https://contact.org.uk/conditions/microcephaly/

  Microcephaly is discovered after measuring the child’s head circumference and comparing this measurement with close relatives (eg parents) and the range of measurements identified in the whole population. […] At or after birth, microcephaly is detected by measuring the head circumference of a baby. Detailed brain imaging, such as a magnetic resonance imaging (MRI) scan, may demonstrate an alteration in brain structure, for example, a decrease in the number and complexity of the folds on the surface of the brain. However, quite frequently, the brain scan appearance simply confirms reduction in overall size of the brain. […] It is very likely that the advent of new genetic technologies will permit testing for many different types of genetic microcephaly in the next few years. In the meantime, children who do not have a specific diagnosis or reason for microcephaly, could be eligible for detailed genetic testing that is available via the Deciphering Developmental Disorders research project.

• #2 Congenital microcephaly: Case definition & guidelines for data collection, analysis, and presentation of safety data after maternal immunisation

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5710988/

  Congenital microcephaly can be diagnosed either postnatally or prenatally and is usually defined by the measurement of occipital-frontal circumference (head circumference) that is more than 2 standard deviations (SDs) below the mean for age and sex or less than the 3rd percentile for age and sex. […] Severe microcephaly is defined as head circumference more than 3 SDs below the mean for age and sex. […] The goal of developing this guideline is to improve and standardize data collection and interpretation in order to evaluate for associations between maternal immunisation and congenital microcephaly. […] There is no uniformly accepted definition of congenital microcephaly as an adverse event in a fetus or infant following maternal immunisation. […] The case definitions and guidelines are intended to be applicable in diverse geographic, administrative, and cultural regions, adaptable to both high and low resource settings.

• #2 Microcephaly: Symptoms, Causes & Outlook

  https://my.clevelandclinic.org/health/diseases/9843-microcephaly

  A healthcare provider can sometimes diagnose microcephaly before birth by prenatal ultrasound. This diagnosis, with the fetus still in the uterus, happens late in the second trimester or the third trimester. […] A diagnosis most often happens within 24 hours after your baby is born. A healthcare provider will measure your babys head circumference (all the way around). Then, theyll compare your babys measurement to growth standards for their age, which takes into account your babys length and weight. […] If your baby has acquired microcephaly, a healthcare provider will diagnose the condition in infancy when symptoms become apparent. During a physical exam, your babys healthcare provider will measure your childs head circumference. They may ask questions about your childs progress in reaching developmental milestones for their age, like crawling or walking.

• #2

  https://journals.lww.com/md-journal/fulltext/2023/12150/prenatal_diagnosis_of_microcephaly_through.67.aspx

  Microcephaly is diagnosed when the occipital frontal head circumference (OFC) is 2 standard deviations (SD) less than the expected average for age, gender, and population. Severe microcephaly is defined as an OFC that is more than 3 SD below the average. […] Currently, traditional prenatal ultrasonography (US) is the primary diagnostic method for microcephaly, while magnetic resonance imaging (MRI) has shown promise in the diagnosis of fetal microcephaly, although experience with this technique is still limited, and there is a need for standardized understanding of this disease. […] Therefore, guidelines recommend establishing a diagnosis of fetal microcephaly when the fetal head circumference is 3 SD below the mean, along with conducting comprehensive and detailed examinations of fetal anatomical structure and attending to fetal brain examination results, intrauterine infections, potential teratogenic exposures, and extrencephalic symptoms related to chromosomal abnormalities or monogenic diseases.

• #2

  https://journals.lww.com/md-journal/fulltext/2023/12150/prenatal_diagnosis_of_microcephaly_through.67.aspx

  MRI is becoming more and more accepted as a component of the diagnosis for intrauterine microcephaly. However, there is still little agreement on the precise diagnostic standards or imaging parameters that can accurately determine the existence of microcephaly on MRI. […] Besides small head circumference, other abnormalities were detected in 76% of children with microcephaly through MRI examination, including white matter abnormalities (40%), corpus callosum abnormalities (31%), subtentorial lesions (15%), and cortical gyration abnormalities (14%). This suggests that MRI is a more sensitive imaging modality for identifying neurological lesions and microcephaly-related abnormalities. […] The optimal period for fetal MRI is between 28 and 32 weeks of gestation, as it provides the most comprehensive information about fetal brain anatomy. It is advised that fetal MRI be carried out in medical institutions equipped with specialists in fetal central nervous system imaging.

• #2 Microcephaly in Children – Stanford Medicine Children’s Health

  https://www.stanfordchildrens.org/en/topic/default?id=microcephaly-in-children-90-P02610

  Microcephaly may be diagnosed before birth by prenatal ultrasound. This imaging test uses high-frequency sound waves and a computer to make images of blood vessels, tissues, and organs. Ultrasounds let healthcare providers see the internal organs as they function. They also show blood flow through blood vessels. In many cases, microcephaly may not be seen with ultrasound until the third trimester. […] After birth, the healthcare provider will ask about your child’s health history. He or she may ask about your pregnancy and health history, and your family’s health history. The provider will give your child a physical exam. […] Your child may have tests, such as: Head circumference measurement. The measurement is compared with a scale for normal growth and size. […] Microcephaly is a lifelong condition that has no cure. Treatment focuses on preventing or reducing problems and maximizing a child’s abilities. […] Children born with microcephaly need to see their healthcare team often. They will need tests to track the growth of the head. Their motor, social, intellectual, and language function will be tracked over time.

• #2 Microcephaly – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/microcephaly/diagnosis-treatment/drc-20375056

  To determine if your child has microcephaly, your provider likely will take a thorough prenatal, birth and family history and do a physical exam. Your provider will measure the circumference of your child’s head, compare it with a growth chart, and remeasure and plot the growth at future visits. Parents’ head sizes also may be measured to determine whether small heads run in the family. […] In some cases, particularly if your child’s development is delayed, your health care provider may order a head CT scan or MRI and blood tests to help determine the underlying cause of the delay.

• #2 Microcephaly: Symptoms, Causes & Outlook

  https://my.clevelandclinic.org/health/diseases/9843-microcephaly

  A percentile is a number on a scale of 1 to 100 that shows how a person compares to others. Percentiles help healthcare providers diagnose certain conditions. To receive a microcephaly diagnosis, your baby’s head circumference must be in the 3rd percentile or lower. A head circumference in the 3rd percentile means 3% of all infants have a smaller head size, and 97% have a larger head size. […] If your childs healthcare provider suspects microcephaly, theyll measure your childs head circumference and run tests to determine the cause. Tests could include: Imaging tests like a head ultrasound or brain MRI. Blood tests to detect changes to their genetic code or any underlying conditions.

• #2 Microcephaly Differential Diagnoses

  https://emedicine.medscape.com/article/2500048-differential

  The main differential consideration is to first determine if the patient has craniosynostosis, a problem with brain growth, or no issues beyond head size. If the etiology is determined to be a problem of brain growth, the clinician should then differentiate between a progressive or static insult. […] The degree of microcephaly may play a role in the physicians likelihood to pursue further workup. Children with a head circumference more than 3 standard deviations below normal are more likely to have underlying structural abnormalities than children with a head circumference between 2 and 3 standard deviations below normal.

• #2 Microcephaly | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/microcephaly

  Microcephaly may be diagnosed before birth by prenatal ultrasound. Ultrasounds are used to view internal organs as they function, and to assess blood flow through various vessels. However, ultrasound is not always accurate in assessing microcephaly. […] Often, microcephaly is not obvious on an ultrasound until late in pregnancy. In these cases, microcephaly will be diagnosed at birth or later in infancy when the baby’s head circumference is smaller than normal for her age and gender. […] If your doctor suspects your child has microcephaly, he or she will obtain a complete prenatal and birth history of your child. Your doctor may also ask if there is a family history of microcephaly or other medical problems such as genetic disorders. […] Diagnostic tests that may be performed to confirm the diagnosis of microcephaly and identify abnormalities in the brain include:

• #2 Microcephaly: Causes, Symptoms, Diagnosis, Treatment

  https://www.gillettechildrens.org/conditions-care/microcephaly

  Microcephaly is a neurological condition that occurs when an infants brain doesnt develop properly, causing a babys head to be small. […] In most cases, microcephaly is present before or at birth. An obstetrician might be able to diagnose congenital microcephaly using a prenatal ultrasound. […] When symptoms of microcephaly appear later in infancy or childhood, neurologists at Gillette Childrens might diagnose it by reviewing your childs medical history, performing a physical exam, and discussing with other specialists. […] Additional tests used to diagnose microcephaly might include: Measuring the circumference of your childs head. Measuring the circumference of the parents heads to determine if small head size runs in the family. CT scan of the head. MRI scan of the head. Lab tests for evidence of past infection or possible genetic causes. […] Its difficult to predict at birth what lifelong issues microcephaly will cause. […] Theres no cure for microcephaly. However, many symptoms of the condition can be managed with routine care, monitoring, and therapies.

• #2 Microcephaly in infants and children: Etiology and evaluation – UpToDate

  https://www.uptodate.com/contents/microcephaly-in-infants-and-children-etiology-and-evaluation

  OFC measurements are most informative when plotted over time. […] In the United States, the Centers for Disease Control and Prevention (CDC) recommend that the World Health Organization growth standards be used for children age zero to two years and the CDC growth charts be used for children age two to three years. […] Microcephaly — Given that microcephaly is a sign rather than a diagnosis, we define microcephaly with qualifying terms.

• #2 Microcephaly: Causes, symptoms, and treatment

  https://www.medicalnewstoday.com/articles/305880

  Occasionally, a doctor may detect the presence of microcephaly on a second- or third-trimester ultrasound and diagnose the anomaly before the birth of the infant. […] For a child to receive a diagnosis of microcephaly after birth, they will undergo an in-depth examination process. […] The diagnostic process for microcephaly can include: a physical exam, including an evaluation of head circumference, family history and evaluating the head sizes of the parents, charting head growth over time. […] Once a doctor diagnoses microcephaly, doctors could also use CT or MRI scans and blood tests to evaluate the severity and cause of the microcephaly, as well as any other associated conditions. […] Some of these tests might also provide the healthcare team with information about the presence of an infection in utero that may have caused structural brain changes.

• #2 Microcephaly | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/microcephaly

  Head circumference. This measurement is compared with a scale for normal growth and size. […] X-ray. A diagnostic test which uses invisible electromagnetic energy beams to produce images of internal tissues, bones, and organs onto film. […] Computed tomography scan (also called a CT or a CAT scan). A diagnostic imaging procedure that uses a combination of X-rays and computer technology to produce horizontal, or axial, images (often called slices) of the body. A CT scan shows detailed images of any part of the body, including bones, muscles, fat, and organs. CT scans are more detailed than general X-rays. […] Magnetic resonance imaging (MRI). A diagnostic procedure that uses a combination of large magnets, radiofrequencies, and a computer to produce detailed images of organs and structures within the body. […] Blood tests […] Urine tests […] Your child’s doctor will also ask about developmental milestones since microcephaly can be associated with developmental problems, such as intellectual disability. Developmental delays may require further medical follow-up to address any underlying problems.

• #2 Microcephaly | Loma Linda University Children’s Health

  https://lluch.org/conditions/microcephaly

  Ultrasound. Sound waves form a picture of the brain and other structures. […] CT scan. This test uses a series of X-rays and a computer to create images of the inside of the body. A CT scan shows more detail than a regular X-ray. […] MRI. This test uses large magnets, radio waves, and a computer to make images of the inside of the body. […] Blood tests. These include genetic tests. Genetic tests check for conditions that tend to run in families. […] Urine test. This is done to look for a substance that may show a certain type of microcephaly.

• #2 Microcephaly | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/microcephaly

  When a child has microcephaly, the brain develops abnormally, causing the head to be much smaller than expected for the child’s age. Microcephaly is often congenital meaning present at birth but can also occur later during infancy. Microcephaly has a variety of causes. Knowing the cause is important in predicting what symptoms a child with microcephaly will have. Doctors typically diagnose microcephaly by taking a full medical and family history, performing a complete physical exam, measuring the size of the baby’s head as he or she grows, to compare with the average head size for age and gender, and measuring the head size of the parents. If your child has the congenital form of microcephaly arising before birth it might be possible to detect the condition with a prenatal ultrasound during the third trimester of pregnancy. If your child has microcephaly that involves some degree of learning disability or other impairment, your clinician may suggest one of the following tests: X-rays, Computed tomography (CT) scan, Magnetic resonance imaging (MRI) scan. If a genetic cause of microcephaly is suspected, your clinician may also suggest genetic testing.

• #2 Microcephaly – Pediatrics – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/pediatrics/congenital-craniofacial-anomalies/microcephaly

  Microcephaly is a head circumference 2 standard deviations below the mean for age. […] Diagnosis of Microcephaly […] Prenatally, ultrasound […] Postnatally, physical examination, including measurement of head circumference and cranial imaging […] Genetic testing […] Prenatally, the diagnosis of microcephaly sometimes is made with ultrasound done in the late second or early third trimester. […] Postnatally, evaluation should include detailed prenatal history to identify risk factors, developmental and neurologic assessment, and brain MRI or CT. […] A clinical geneticist should evaluate affected patients even in cases of apparent isolated congenital anomaly. […] Chromosomal abnormalities can occur with microcephaly. […] A gene panel test specific for microcephaly is available through several diagnostic laboratories. […] Chromosomal microarray analysis, or broader gene panel tests also should be considered in the evaluation of patients with microcephaly. […] If the results of these tests are nondiagnostic, whole exome sequencing analysis may be recommended.

• #2 Microcephaly – Child Neurology Foundation

  https://www.childneurologyfoundation.org/disorder/microcephaly/

  Tests for changes in the childs genes may reveal a likely cause. Parents may then also be tested. Testing parents can show whether a genetic change is inherited or new in the patient. It can help determine the risk of this condition appearing in future pregnancies. A genetic counselor can help interpret test results.

• #2 Microcephaly: A clinical genetics approach – UpToDate

  https://www.uptodate.com/contents/microcephaly-a-clinical-genetics-approach

  Microcephaly is an important neurologic finding. Deviations from normal head growth may be the first indication of an underlying congenital, genetic, or acquired problem. Many genetic conditions are associated with an abnormal pattern of head growth; the earlier these conditions are detected, the earlier appropriate treatment, services, and genetic counseling can be provided. […] The definition of microcephaly is not standardized. It is sometimes defined as an occipitofrontal circumference (OFC) more than three standard deviations (SDs) below the mean for a given age, sex, and gestation. Other times, it is defined as an OFC more than two SDs below the appropriate mean (ie, less than the 3rd percentile). […] OFC measurements at birth are necessary to establish a diagnosis of primary microcephaly.

• #2 Microcephaly | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/microcephaly?lang=us

  Microcephaly (plural: microcephalies), also known as microcrania, is a descriptive term meaning a small head associated with numerous disorders of diverse etiology. It is usually associated with microencephaly (plural: microencephalies) (small brain). For the purpose of this article, the two terms will be used interchangeably. […] Microcephaly is usually defined as fetal head measurements (e.g., occipital-frontal circumference) falling under two standard deviations (equivalent to below the 3rd percentile) expected for age and gender. It is important to note that this means that the majority of these individuals are actually normal, but small. […] The detection of microcephaly usually becomes easier as the gestation advances. The small head is best assessed by using the head circumference (HC). The biparietal diameter (BPD) measurement does not help diagnose microcephaly as the head shape can be misleading.

• #2 Microcephaly | MedLink Neurology

  https://www.medlink.com/articles/microcephaly

  Microcephaly is defined as a head circumference of less than three standard deviations from the population mean for age and gender. […] Advances in neuroimaging and genetic testing have value for the diagnosis and prognosis of microcephaly. […] The American Academy of Neurology and Child Neurology Society have published an evidence-based review with recommendations for evaluating a child with microcephaly. […] Microcephaly is a neurologic sign and clinical finding, not a diagnosis by itself, and it can be caused by many different underlying etiologies. […] A diagnostic workup should be planned after a detailed evaluation of the history and physical findings. Imaging studies of the brain are usually indicated unless clinical features are strongly suggestive of an obvious syndrome, such as Down syndrome, or in cases of autosomal dominant microcephaly with normal cognitive function, where imaging studies are unlikely to add much information in patient management.

• #2 Primary microcephaly and differential diagnosis – Health in Code

  https://healthincode.com/en/panels/neuropediatrics/congenital-anomalies-of-the-cns/primary-microcephaly-and-differential-diagnosis/

  Primary microcephaly refers to the clinical finding of a head circumference more than 3 standard deviations below the mean for the same age and sex, present at birth or in the first months of life. It is a static anomaly of brain development consisting of a simplification of the cerebral cortical gyration pattern and a slight reduction in the volume of the white matter, but a normal brain architecture, without alterations in neuronal migration. People with this condition almost always have mental retardation. Additional clinical features may include short stature or seizures. […] The benefits derived from a genetic diagnosis in this context are especially aimed at completing the diagnosis and family genetic counseling. […] Service indicated when microcephaly is detected at birth or during the first months of life, without other data suggestive of a syndromic entity. […] Virtual panel based on whole exome sequencing, aimed at the analysis of all genes of moderate, high and low evidence related to primary microcephaly, as well as those associated with differential diagnosis entities.

• #2 Athena Diagnostics

  https://www.athenadiagnostics.com/view-full-catalog/primary-microcephaly-sequencing-evaluation1

  Test code: 1186 Type of disorder: Neurodevelopmental Disorders Disease(s) tested for: Primary Microcephaly Genes Included: ASPM, MCPH1, WDR62, Tests included: ASPM Sequencing TestMCPH1 Sequencing TestWDR62 Sequencing Test Informed Consent Required: This test requires physician attestation that patient consent has been received […] Clinical Significance: Detects sequence variants in ASPM, MCPH1, and WDR62 genes in patients with primary microcephaly (PM). PM is a reduced occipitofrontal circumference of the head that is at least four standard deviations (SD) and is caused by congenital insufficiency during fetal brain development. Primary microcephaly is present at birth and is a static developmental anomaly, whereas secondary microcephaly develops postnatally and is a progressive neurodegenerative condition.

• #2 The Fetal Medicine Foundation

  https://fetalmedicine.org/education/fetal-abnormalities/brain/microcephaly

  Associated abnormalities: […] Chromosomal abnormalities are rare and the most common are trisomies 13, 18 and 21. […] Genetic syndromes are very common, most of them being caused by single gene defects with either autosomal recessive or X linked patterns of inheritance. The most common are: Meckel-Gruber, Walker-Walburg, Miller-Diecker, Smith-Lemli-Opitz, Seckel syndrome. […] Investigations: […] Detailed ultrasound examination, including neurosonography. […] Invasive testing for karyotyping and array. […] TORCH test for fetal infections. […] Fetal brain MRI at 32 weeks gestation for diagnosis of abnormalities of neuronal migration, such as lissencephaly and polymicrogyria. […] Follow up: […] Ultrasound scans every 4 weeks to monitor the evolution of head circumference.

• #2 Microcephaly: After Diagnosis, a Life of UncertaintyCalifornia Consumer Privacy Act (CCPA) Opt-Out Icon

  https://www.usnews.com/news/articles/2016-03-04/microcephaly-after-diagnosis-a-life-of-uncertainty

  Microcephaly can be caused by exposure during pregnancy to viruses like Zika, rubella or cytomegalovirus, a herpes virus also known as CMV. It can also be caused by a chromosomal abnormality, like Down syndrome and hundreds of other disorders; in those cases, doctors may be able to tell parents what their children’s lives will look like and how they will be able to function in society and adapt. […] But without a definitive answer from genetic testing, families are left grasping in the dark, not knowing for years whether their children will have seizures, or be able to speak or walk on their own. Parents often don’t know at what point their children’s brains will stop developing past a certain age, causing them for the rest of their lives to act younger than they are. […] „The hardest thing for us was that no one could ever tell us what to expect,” Grounds says. „You can’t look forward to anything, because it might not happen.”

• #2 Secondary Microcephaly and HIE – Hope for HIE – Hypoxic Ischemic Encephalopathy

  https://www.hopeforhie.org/secondary-microcephaly-and-hie/

  Receiving a diagnosis of neonatal hypoxic-ischemic encephalopathy (HIE) can be overwhelming for any family, and learning that your child may be at risk for secondary microcephaly can add to those concerns. […] Secondary microcephaly is diagnosed by measuring the circumference of the child’s head over time. It seems like HIE babies have their head measured nonstop in the first year. The medical team will regularly measure the head during routine checkups and compare it to growth charts to monitor if the head size is within the expected range. If the head growth slows down or falls significantly behind the norm, the doctor may suspect secondary microcephaly. […] There is no direct treatment to reverse secondary microcephaly. Many of our families will be referred to neurosurgery to rule out craniosynostosis which is a premature fusing of the fontanelle, or soft spot on a baby’s head. 99% of HIE babies will not need surgery and while the fontanelle may appear very small, it isn’t actually closed.

• #2 Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly | BMC Medical Genomics | Full Text

  https://bmcmedgenomics.biomedcentral.com/articles/10.1186/s12920-024-01999-0

  This case expands our understanding of the molecular basis of dual Mendelian disorders and highlights the importance of considering the possibility of dual molecular diagnoses in patients with phenotypic features that are not fully accounted for by their primary diagnosis. […] The patients additional phenotypic features were consistent with MFDM, although choanal atresia cleft palate or zygomatic arch cleft were not observed in our patient. […] Accordingly, an additional diagnosis of MFDM was made in our patient. We conclude that this patient exhibits a blended phenotype, with features of both achondroplasia and MFDM. […] This case underscores the complexity of genetic disorders and the interplay of different biological processes in growth and development. […] It also highlights the importance of comprehensive genetic testing in providing accurate diagnosis and guiding management for patients with complex phenotypes. […] The increased identification of dual molecular diagnoses represents a significant shift in the field of Genomic Medicine.

• #2 Microcephaly

  https://www.isuog.org/clinical-resources/patient-information-series/patient-information-pregnancy-conditions/brain/microcephaly.html

  After delivery, you might be referred to a physician who specializes in treating babies like yours, such as a pediatric neurologist. They can monitor your babys continued growth and development and work with you to devise a treatment plan that suits your babys individual needs. While there is no specific treatment for microcephaly, early intervention with stimulation and play programs is beneficial, as well as working with specialized personnel (for example, physical, occupational, or speech therapists, and others).

• #2 Microcephaly | ABC Medical Center

  https://centromedicoabc.com/en/padecimientos/microcephaly/

  Once the specialist performs a physical examination and analyzes the family medical history, they will measure the babys head to compare it with a growth chart, making timely follow-ups. […] If your child has been developmentally impaired, the doctor will most likely order blood, urine, and genetic tests, as well as imaging studies such as MRI and CT scans, in order to establish the cause of the delay. […] If your child suffers from craniosynostosis, they will perform surgery to correct the anomaly, but in other cases, there is no therapy that solves the problems caused by microcephaly, so the treatment will focus on achieving control of the condition through various support programs, such as speech and occupational therapy, as well as physiotherapy, which will seek to give the child a better quality of life.

• #2 Can a Child With Microcephaly Be Normal?

  https://www.medicinenet.com/can_a_child_with_microcephaly_be_normal/article.htm

  There is no cure for microcephaly, and the complications cant be reversed. Surgery is available only for craniosynostosis. Treatment of a child with microcephaly involves a team of doctors, teachers, therapists, and other healthcare professionals. Treatment includes management of the childs condition with speech therapy and physical and occupational therapy to strengthen their abilities and improve their quality of life. Medication may be prescribed to treat certain complications of microcephaly such as seizures and hyperactivity. Hearing problems may be managed with devices to aid hearing such as hearing aids. Vision problems can be managed with prescription eyeglasses. […] Surgery for craniosynostosis involves the separation of the fused skull bones. If there are no other problems in the brain, following surgery, there is adequate space created, allowing the brain to grow and develop normally.

• #2 Congenital microcephaly: Case definition & guidelines for data collection, analysis, and presentation of safety data after maternal immunisation

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5710988/

  The timing of clinical recognition of congenital microcephaly varies by setting. […] Thus, congenital microcephaly can be classified as diagnosed postnatally or prenatally, based exclusively on the timing of when the diagnosis of microcephaly is made. […] We have incorporated this additional level of classification into our case definition. […] The case definition has been formulated such that the Level One definition is highly specific for the condition. […] As noted above, congenital microcephaly may exist alone, in the presence of other congenital anomalies, or as part of a syndrome. […] We have also included radiology findings, specifically fetal ultrasound examination results, for use in the prenatal definition for congenital microcephaly. […] Laboratory findings are not included in the case definition. However laboratory data (e.g., genetic test results) should be included as supportive data as many known causes of congenital microcephaly can be diagnosed through laboratory studies.

• #2 Microcephaly | Loma Linda University Children’s Health

  https://lluch.org/conditions/microcephaly

  Microcephaly may be diagnosed before birth by prenatal ultrasound. This imaging test uses high-frequency sound waves and a computer to make images of blood vessels, tissues, and organs. Ultrasounds let healthcare providers see the internal organs as they function and measure the size of the head. They also show blood flow through blood vessels. In many cases, microcephaly may not be seen with ultrasound until the third trimester. […] After birth, the healthcare provider will ask about your child’s health history. They may ask about your pregnancy and health history, and your family’s health history. The provider will give your child a physical exam. […] Your child may have tests, such as: […] Head circumference measurement. The measurement is compared with a scale for normal growth and size.

• #2 Microcephaly: After Diagnosis, a Life of UncertaintyCalifornia Consumer Privacy Act (CCPA) Opt-Out Icon

  https://www.usnews.com/news/articles/2016-03-04/microcephaly-after-diagnosis-a-life-of-uncertainty

  „If I had been given a diagnosis or a suspicion, I would have terminated the pregnancy,” she says. „If I had gotten a second opinion. If I knew what it could mean. That will appall people, but it’s my belief system.” […] Dr. William Trescher, president of the Child Neurology Foundation and pediatric neurologist at Penn State Milton S. Hershey Medical Center in Pennsylvania, says that in his practice, diagnosing infants with microcephaly is relatively common. „People in the average population can’t believe that something like this can happen,” he says. When he tells parents the diagnosis, they often don’t believe him and go see another physician. […] „There is no comprehensive organized support for the care of these children from birth to death,” he says. […] The inadequacies become particularly pronounced when people with disabilities turn 21, the age at which they can no longer attend public school under U.S. law, he says.

• #2 Congenital microcephaly: Case definition & guidelines for data collection, analysis, and presentation of safety data after maternal immunisation

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5710988/

  The number of symptoms and/or signs that will be documented for each case may vary considerably. […] The case definition is accompanied by guidelines, which are structured according to the steps of conducting a clinical trial or observational study, i.e., data collection, analysis and presentation. […] The findings, opinions and assertions contained in this consensus document are those of the individual scientific professional members of the working group.

• #2 Microcephaly | MedLink Neurology

  https://www.medlink.com/articles/microcephaly

  Genetic evaluations are evolving. […] Chromosomal abnormalities often have implications for genetic counseling; therefore, in cases of undiagnosed microcephaly, chromosomal study is usually indicated even without obvious dysmorphic features. […] Genetic testing may yield a diagnosis in cases of microcephaly, and rates have been reported from 15.5% to 53.3%. […] The overall diagnostic yield of imaging studies to explain the cause of microcephaly ranges from 43% to 80% in the literature. […] The prognosis of microcephalic patients depends largely on their underlying etiology. […] The outcome for intelligence in microcephalic children is generally guarded, and many will have a significant chance of functioning in the low intelligence range. […] However, it is important to keep in mind that the prognosis of each individual case should be made not on the basis of the head circumference alone but through careful evaluation of the history, physical examination, brain imaging, and laboratory studies, including genetic testing.

• #2

  https://journals.lww.com/md-journal/fulltext/2023/12150/prenatal_diagnosis_of_microcephaly_through.67.aspx

  The diagnosis of prenatal fetal microcephaly requires careful consideration. When the fetal head circumference measures below 3 SD, abnormal fetal brain development should be considered. […] MRI is typically used to confirm fetal central nervous system malformations identified by US and to assess fetal brain development from multiple angles. It is widely considered the most accurate method for detecting fetal gyri and sulci abnormalities.

Zobacz więcej