Materiały źródłowe

• #1 Down syndrome – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/down-syndrome/diagnosis-treatment/drc-20355983

  The American College of Obstetricians and Gynecologists recommends offering the option of screening tests and diagnostic tests for Down syndrome to all who are pregnant, no matter what age. […] Screening tests can suggest the likelihood or chances that you’re carrying a baby with Down syndrome. But these tests can’t tell for sure whether your baby has Down syndrome. […] Diagnostic tests can tell for sure whether your baby has Down syndrome. […] If your screening test results are positive or uncertain, or you’re at high risk of having a baby with Down syndrome, you might consider more testing to confirm the diagnosis. […] Diagnostic tests that can identify Down syndrome include: […] A physical exam is usually enough to identify Down syndrome in an infant in the first 24 hours after birth. If your healthcare professional thinks that your infant has Down syndrome, your healthcare professional orders a test called a chromosomal karyotype to confirm the diagnosis. Using a sample of blood, this test looks at your child’s chromosomes. If there’s an extra full or partial chromosome 21 in all or some cells, the diagnosis is Down syndrome.

• #1 How do health care providers diagnose Down syndrome? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

  http://www.nichd.nih.gov/health/topics/down/conditioninfo/diagnosis

  Health care providers can check for Down syndrome during pregnancy or after a child is born. There are two types of tests for Down syndrome during pregnancy: A prenatal screening test. This test can show an increased likelihood that a fetus has Down syndrome, but it cannot determine whether Down syndrome is definitely present. If a screening test shows an increased likelihood, a diagnostic test can be ordered. A prenatal diagnostic test. This test can determine with certainty whether Down syndrome is present. Diagnostic tests carry a slightly greater risk to the fetus than screening tests. The American Congress of Obstetricians and Gynecologists (ACOG) recommends that all pregnant women be offered a Down syndrome screening test. If a screening test suggests the likelihood of Down syndrome, a diagnostic test can be performed. ACOG recommends that pregnant women of all ages be given the option of skipping the screening test and getting a diagnostic test first. Diagnostic testing for Down syndrome involves removing a sample of genetic material. After it is removed, the sample is checked for extra material from chromosome 21, which may indicate that a fetus has Down syndrome. Parents usually get the results of the test a week or two later. A pregnant woman who is at risk for having an infant with Down syndrome can also have a chromosomal test using her blood. A mothers blood carries DNA from the fetus, which may show extra chromosome 21 material. A diagnosis of Down syndrome after birth is often based initially on physical signs of the syndrome. But because individuals with Down syndrome may not have these symptoms, and because many of these symptoms are common in the general population, the health care provider will take a sample of the babys blood to confirm the diagnosis. The blood sample is analyzed to determine the number of the babys chromosomes.

• #1 Making Informed Decisions: Down Syndrome Screening Explained

  https://www.womenandinfants.org/services/medical-screening/screening-for-down-syndrome

  Down syndrome is caused by the presence of an extra chromosome number 21 in the cells of the developing baby. […] The First Trimester Test is performed between 10 and 13 completed weeks of pregnancy to screen for Down syndrome – this test is not used to screen for open neural tube defects. […] It is a screening test and cannot determine definitely whether or not a baby has Down syndrome. […] The test identifies those women who have an increased likelihood of Down syndrome pregnancy so that they can be offered a diagnostic test (such as chorionic villus sampling). […] The Integrated Test is performed in two stages. […] The NT measurement and the levels of the five markers in your blood are used, together with your age, to estimate your likelihood of having a pregnancy affected by Down syndrome.

• #1 Unraveling Down Syndrome: From Genetic Anomaly to Artificial Intelligence-Enhanced Diagnosis

  https://www.mdpi.com/2227-9059/11/12/3284

  Down syndrome arises from chromosomal non-disjunction during gametogenesis, resulting in an additional chromosome. This anomaly presents with intellectual impairment, growth limitations, and distinct facial features. […] Early interventions, including first and second-trimester screenings, have improved DS diagnosis and care. […] The prospective for the growth and socialization of Down syndrome affected individual has now been realized and improved with early intervention techniques, thereby timely support for DS affected children is extensively implemented. With the introduction of first trimester screening, the options of diagnostics for Down syndrome have improved significantly. […] The first-trimester screening achieves a detection rate for Down syndrome ranging from 82% to 87%, while the second-trimester screening achieves an 80% detection rate. When both the first and second-trimester screenings are combined, often referred to as integrated screening, the detection rate increases to approximately 95%.

• #1 NIPT Test (Noninvasive Prenatal Testing): What To Expect

  https://my.clevelandclinic.org/health/diagnostics/21050-nipt-test

  NIPT tests (noninvasive prenatal testing test) use a pregnant woman’s blood to detect congenital abnormalities in the fetus’s DNA. The DNA is examined for genetic conditions, such as Down syndrome. […] The NIPT test is also called cell-free DNA (cfDNA) screening or noninvasive prenatal screening (NIPS). It’s important to remember that a screening test estimates the likelihood of the fetus having a particular condition. It doesn’t diagnose a condition. […] NIPT is about 99% accurate in detecting Down syndrome. […] If noninvasive prenatal testing indicates that the fetus is at risk for a chromosomal disorder, your provider may recommend diagnostic testing. These tests diagnose conditions and give a yes or no answer: […] NIPT is a screening test and, therefore, isn’t perfect. It’s important that you talk to your healthcare provider about your results and options to get more information.

• #1 Making Informed Decisions: Down Syndrome Screening Explained

  https://www.womenandinfants.org/services/medical-screening/screening-for-down-syndrome

  The likelihood of Down syndrome of one in 100 means that if 100, we expect that one of these women will have a baby with Down syndrome and that 99 will not. […] A screen positive result means that you are in a high-likelihood group for having a baby with Down syndrome. […] The result is screen positive if the likelihood of Down syndrome in the first trimester is one in 230 or greater. […] Most women with screen-positive results do not have a pregnancy with Down syndrome. […] If the likelihood of Down syndrome based on the First Trimester Test is lower than one in 230, then the result is called screen negative, and a diagnostic test is usually not offered. […] No. About eight or nine out of 10 cases of Down syndrome are detected (classified as screen positive). […] However small the likelihood is, the test cannot completely rule out the possibility of the baby having Down syndrome.

• #1 Understanding a Diagnosis of Down Syndrome | National Down Syndrome Society (NDSS)

  https://ndss.org/lifespan/understanding-a-diagnosis-of-down-syndrome

  It is important to note that none of these prenatal screens will be able to definitively diagnose Down syndrome. […] In recent years, noninvasive prenatal screening tests have been made available. […] The diagnostic procedures available for prenatal diagnosis of Down syndrome are chorionic villus sampling (CVS) and amniocentesis. […] Amniocentesis and CVS are also able to distinguish between these genetic types of Down syndrome: trisomy 21, translocation Down syndrome, and mosaic Down syndrome. […] Whether or not to undergo a prenatal screening or diagnostic test is a personal decision, and expectant parents must make the choice that is best for them. […] Doctors will usually suspect Down syndrome if certain physical characteristics are present. […] To obtain a karyotype, doctors draw a blood sample to examine your baby’s cells. […] By examining the karyotype, they can determine accurately whether or not your baby has Down syndrome.

• #1 Making Informed Decisions: Down Syndrome Screening Explained

  https://www.womenandinfants.org/services/medical-screening/screening-for-down-syndrome

  Therefore, we use age as one of the factors when assessing your likelihood of having a pregnancy with Down syndrome. […] If the test is screen positive, you will be offered a diagnostic test, usually chorionic villus sampling (CVS) or possibly an amniocentesis. […] An amniocentesis is a procedure in which the doctor obtains a small sample of fluid that surrounds the developing baby by passing a fine needle through the abdominal wall and into the uterus, under the guidance of an ultrasound scan. […] This fluid sample can be used to diagnose chromosome problems like Down syndrome and trisomy 18. […] A genetic counselor will be available to discuss your baby’s diagnosis in detail and the options available to you.

• #1

  https://www.nads.org/resources/facts-about-down-syndrome/

  Screening tests do not accurately confirm the diagnosis of Down syndrome. In fact, false positives and false negatives frequently occur. […] Three diagnostic tests are currently available: Chorionic Villus Sampling (CVS) is conducted between 10 and 12 weeks. In this test, a small piece of the placenta (chorionic villus) will be taken and analyzed. Amniocentesis is performed between 14 and 20 weeks. A small sample of amniotic fluid is drawn, and cells in the fluid are tested. Percutaneous Umbilical Blood Sampling (PUBS) is performed after 18 weeks. This test examines blood from the umbilical cord.

• #1 About Down Syndrome | National Down Syndrome Society (NDSS)

  https://ndss.org/about

  How is Down syndrome diagnosed? […] There are two categories of tests for Down syndrome that can be performed before a baby is born: screening tests and diagnostic tests. […] Prenatal screens estimate the chance of the fetus having Down syndrome. […] Diagnostic tests, on the other hand, can provide a definitive diagnosis with almost 100% accuracy. […] The diagnostic procedures available for prenatal diagnosis of Down syndrome are chorionic villus sampling (CVS) and amniocentesis. […] Down syndrome is usually identified at birth by the presence of certain physical traits: low muscle tone, a single deep crease across the palm of the hand, a slightly flattened facial profile, and an upward slant to the eyes. […] Because these features may be present in babies without Down syndrome, a chromosomal analysis called a karyotype is done to confirm the diagnosis. […] By examining the karyotype, doctors can diagnose Down syndrome. […] Another genetic test called fluorescence in situ hybridization (FISH) can confirm a diagnosis in a shorter amount of time by visualizing and mapping the genetic material in an individual’s cells.

• #1 Down Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK526016/

  The management of patients with Down syndrome is multidisciplinary. Newborns with suspicion of Down syndrome should have a karyotyping done to confirm the diagnosis. […] Parental education is one of the foremost aspects regarding the management of Down syndrome, as parents need to be aware of the different possible conditions associated with it so that they can be diagnosed and treated appropriately.

• #1 Down Syndrome Workup: Approach Considerations, Laboratory Studies, Radiography and Ultrasonography

  https://emedicine.medscape.com/article/943216-workup

  The diagnosis of Down syndrome is most commonly made by prenatal screening followed by definitive diagnostic testing. […] Diagnosis should be confirmed through chromosomal analysis. […] The clinical diagnosis of trisomy 21 should be confirmed with cytogenetic studies. […] Fluorescence in situ hybridization (FISH) may be used for rapid diagnosis of trisomy 21. […] A positive screening result with the above methods only suggests an increased risk for Down syndrome, and definitive testing with chorionic villus sampling or amniocentesis and chromosomal analysis is indicated. […] Amniocentesis, routinely performed at 14-16 weeks gestation, remains the criterion standard of invasive diagnostic tests. Testing for chromosomal disorders is 99.5% accurate. […] Chorionic villus sampling (CVS) is performed at 10-13 weeks gestation; the accuracy of CVS (96-98%) is less than that of midtrimester amniocentesis. […] The auditory brainstem response (ABR), also known as the brainstem auditory evoked response (BAER), may be tested to demonstrate hearing loss.

• #1 Down Syndrome Screening: Early Detection by Scan and NIPT

  https://www.londonpregnancy.com/down-syndrome-trisomy-21/

  NIPT is the safest option in the case of Down syndrome-related findings. […] When healthcare providers evaluate these findings concerning each pregnancy, they may contemplate additional testing tailored to specific risk factors and circumstances. Procedures such as chorionic villus sampling (CVS) or amniocentesis might be necessary to rule out Down syndrome. […] If your NIPT results show a high probability for Down syndrome, the next step recommended by medical professionals globally is to undergo an invasive diagnostic test, such as Chorionic Villus Sampling (CVS) or amniocentesis. These tests are crucial to confirm the NIPT findings, and we strongly advise them before making any decisions about the pregnancy. […] Learning that your baby may have trisomy 21 (Down syndrome) through CVS (Chorionic Villus Sampling) or amniocentesis can be an emotional experience. To confirm this diagnosis quickly, a special test called quantitative fluorescent-polymerase chain reaction (QF-PCR) is used.

• #1 Down Syndrome: Prenatal Risk Assessment and Diagnosis | AAFP

  https://www.aafp.org/pubs/afp/issues/2000/0815/p825.html

  Down syndrome (trisomy 21) is the most commonly recognized genetic cause of mental retardation. The risk of trisomy 21 is directly related to maternal age. All forms of prenatal testing for Down syndrome must be voluntary. A nondirective approach should be used when presenting patients with options for prenatal screening and diagnostic testing. Patients who will be 35 years or older on their due date should be offered chorionic villus sampling or second-trimester amniocentesis. Women younger than 35 years should be offered maternal serum screening at 16 to 18 weeks of gestation. […] The diagnosis is confirmed by karyotype analysis. Trisomy 21 is present in 95 percent of persons with Down syndrome. […] Prenatal diagnosis of trisomy 21 allows parents the choice of continuing or terminating an affected pregnancy.

• #1 Down syndrome: Clinical features and diagnosis – UpToDate

  https://www.uptodate.com/contents/down-syndrome-clinical-features-and-diagnosis

  When no prenatal diagnosis is available, DS is usually recognized from the characteristic phenotypic features present in the newborn. Clinical diagnosis should be confirmed with a genetic test (eg, a karyotype performed on a blood sample). Alternative methods (eg, interphase fluorescent in situ hybridization for trisomy 21 or quantitative fluorescence-polymerase chain reaction) may be used to expedite diagnosis, but these investigations should always be followed by a full karyotype to detect DS due to translocations (eg, Robertsonian translocations involving chromosome 21) or mosaic DS.

• #1 International Mosaic Down Syndrome Association – How to get a diagnoses

  https://www.imdsa.org/How-to-get-a-diagnoses

  How to Diagnose mosaic Down syndrome […] How can a person request testing for mosaic Down syndrome? The first step to arrange for testing for mosaic Down syndrome is to make an appointment with a genetics specialist. Some areas may not have genetics practice available. For those regions, you may wish to contact your familys general health physician (pediatrician; neurologist; family practice physician). The genetics team will evaluate your child (or you) to determine if the cause for symptoms is most likely to be mosaic Down syndrome or some other genetic condition. This step is important to avoid ordering/paying for testing that is unlikely to provide answers to the health and/or behavioral concerns noted in your child/yourself. The genetics team will order the testing, using accredited testing labs. They will also help address insurance questions/information needed for diagnostic testing (this test is covered by most insurance companies). The genetics team will also make sure that you have the referrals you need to ensure your child/you receive(s) the best medical care and intervention services.

• #1 Unraveling Down Syndrome: From Genetic Anomaly to Artificial Intelligence-Enhanced Diagnosis

  https://www.mdpi.com/2227-9059/11/12/3284

  Early diagnosis, intervention, and ongoing support are crucial for individuals with Down syndrome to reach their full potential and lead fulfilling lives. […] The introduction of cell-free prenatal screening and the parallel sequencing of maternal plasma cell-free DNA (cfDNA) has brought about a profound transformation in the standard approach to prenatal Down syndrome diagnosis. […] AI and ML have emerged as powerful tools with the potential to revolutionize various fields, including healthcare. […] Incorporating ML techniques into Down syndrome detection holds significant potential for enhancing accuracy, efficiency, and accessibility. […] AI programs can be trained to identify facial characteristics that are commonly linked to Down syndrome. […] AI and ML can also help with Down syndrome prenatal diagnosis. […] By making timely and accurate recommendations based on patient data, AI and ML can serve as decision support tools for healthcare professionals.

• #1 Screening for Down syndrome | Pregnancy Birth and Baby

  https://www.pregnancybirthbaby.org.au/screening-for-down-syndrome

  Down syndrome is a common genetic (chromosomal) disorder that leads to intellectual disability. […] You can have a screening test to find out if your baby is likely to be born with Down syndrome. […] Screening tests can be done to see if your baby has a high chance of being born with a chromosomal health condition such as Down syndrome. […] A screening test cannot diagnose Down syndrome or tell you for certain that your baby has a genetic condition. […] If screening shows that your baby is likely to have Down syndrome, you will be offered a further test to confirm this. […] An early diagnosis of Down syndrome can help you and your doctor continue to check your baby for complications and to act early if needed. […] Your doctor can order a diagnostic test to find out whether your baby has Down syndrome. […] Diagnostic tests include: chorionic villus sampling (which tests the placental tissue) and amniocentesis (which tests the amniotic fluid; the fluid around your baby). […] After your baby is born, a blood test may be done to confirm Down syndrome.

• #1 Diagnosis and Management of Down Syndrome, The Importance of Early Intervention and Comprehensive Care and Screening in Pregnancy | Medanta

  https://www.medanta.org/patient-education-blog/diagnosis-and-management-of-down-syndrome-the-importance-of-early-intervention-and-comprehensive-care-and-screening-in-pregnancy

  To confirm a high-risk screening test (Biochemical test or NIPS) for Down syndrome in the baby, two types of tests are available: chorionic villus sampling and amniocentesis. […] Chorionic villus sampling (CVS) is a diagnostic test that involves taking a small sample of cells from the placenta. […] Amniocentesis is another diagnostic test involving taking a small amniotic fluid sample from the sac surrounding the fetus. […] These tests are usually done after discussion with your obstetrician or a clinical geneticist and are usually offered if the risk for Down syndrome in the baby is higher than the risk for miscarriage. […] Early intervention is a crucial component of managing Down syndrome. […] Comprehensive care is also important for individuals with Down syndrome throughout their lifespan.

• #1 Understanding a Down Syndrome Diagnosis

  https://mydoctor.kaiserpermanente.org/mas/news/understanding-a-down-syndrome-diagnosis-1893918

  Each year, about 6,000 babies born in the United States have Down syndrome, according to the U.S. Centers for Disease Control and Prevention. It is the most common chromosomal disorder in the United States. The risk of having a baby with Down syndrome increases with the mother’s age. […] While the physical features associated with Down syndrome are fairly well known – a short neck, flattened face, small ears, eyes that slant up and short stature – many people don’t realize that children with Down syndrome are at risk for other medical challenges. […] Some of the medical complications children with Down syndrome experience may include: Congenital heart defects. Approximately half of children with Down syndrome will have a heart condition, such as atrioventricular septal defect, ventricular septal defect, persistent ductus arteriosus or tetralogy of Fallot. […] I tell parents to have realistic expectations for their child with Down syndrome and to remain optimistic. People with Down syndrome can learn how to communicate effectively, hold jobs and interact well with others. They generally have happy, healthy lives and rewarding relationships.

• #1 Down Syndrome Program | Prenatal Resources | Boston Children’s Hospital

  https://www.childrenshospital.org/programs/down-syndrome-program/prenatal-resources

  Parents who receive a prenatal diagnosis are given an opportunity to meet and talk with a developmental pediatrician about Down syndrome and ask questions. […] Understanding a Down Syndrome Diagnosis is a booklet that our Down Syndrome Program shares with expectant parents that visit us for a prenatal visit. […] Down Syndrome Pregnancy Inc., a New Jersey charitable corporation, provides information and support to expectant parents preparing for the birth of a baby with Down syndrome. […] Massachusetts Down Syndrome Congress has a Parent First Call Program. […] National Down Syndrome Congress offers an Expectant Parents Guide, articles, and other information for expectant parents. […] National Down Syndrome Society offers a video, brochure, and other informative resources for expectant parents.

• #1 International Mosaic Down Syndrome Association – How to get a diagnoses

  https://www.imdsa.org/How-to-get-a-diagnoses

  Can a person have mosaic Down syndrome if they received a normal chromosome test result? It is important to recognize that the proportion of trisomic cells can vary among tissue types. For example, there may be differences in the percentage of trisomic cells in the blood compared to the skin, heart or other organs. For this reason, one may wish to evaluate more than one type of tissue for diagnostic testing. Some people who have symptoms of mosaic Down syndrome have been diagnosed by studying a buccal specimen (but had a normal blood test result). Also, several people who have mosaic Down syndrome will have higher percentages of trisomic cells in the buccal specimen (cheek cells) compared to their blood cells. However, most people who have symptoms of mosaic Down syndrome will be successfully diagnosed from a routine chromosome test. The blood test to diagnose mosaic Down syndrome is widely available at nearly all chromosome testing centers. The buccal cell test is less widely available but can be ordered through several labs (for example, this test can be completed by the team at the Virginia Commonwealth University Health Molecular Cytogenetics laboratory). Your geneticists specialist team will help you locate a lab to complete this testing.

• #1 International Mosaic Down Syndrome Association – How to get a diagnoses

  https://www.imdsa.org/How-to-get-a-diagnoses

  How is testing completed to diagnose mosaic Down syndrome? Testing to diagnose mosaic Down syndrome is completed by a genetics laboratory that is accredited to perform diagnostic testing. The individuals chromosomal make-up can be evaluated using either: (1) a conventional chromosome test; (2) a fluorescence in situ hybridization test; or (3) a microarray test. […] 1. Conventional chromosome test: This test is most frequently used for evaluating a person to determine if he or she has Down syndrome or mosaicism for trisomy 21. This test is usually completed from a blood specimen but can also be completed from a skin biopsy. The analysis includes an assessment of the number of chromosomes present, as well as the structure of the chromosomes. This test can distinguish if a person has Down syndrome/mosaic Down syndrome due to an additional structurally normal chromosome 21 or if they have Down syndrome/mosaic Down syndrome as a result of a chromosome rearrangement (such as a translocation). Given that this test also involves an analysis of all chromosomes, it can identify other chromosomal findings that are present (not just Down syndrome). Typically, 20 cells are evaluated in this test. If the request for testing is to rule out mosaicism, typically 30 to 50 cells will be evaluated. By evaluating 20 cells, labs will be able to detect mosaicism if it is present in as few as 11% of cells; By scoring 30 cells, the lab can detect mosaicism present in as few as 8% of cells; By scoring 50 cells, the lab can detect mosaicism present in as few as 5% of cells.

• #1 International Mosaic Down Syndrome Association – How to get a diagnoses

  https://www.imdsa.org/How-to-get-a-diagnoses

  2. Fluorescence in situ hybridization test: This test can be completed on chromosomes or on nuclei (cells that are not in the metaphase portion of the cell cycle). As a result, this test can be completed from a blood specimen, a buccal swab (rubbing of cells from the inside of the cheek), or a skin biopsy. For this test the cells are probed to determine if they have a portion of chromosome 21. Given that hundreds of cells are typically scored for this test, it has the highest sensitivity for detecting mosaicism. By evaluating 100 cells, labs will be able to detect mosaicism if it is present in as few as 3% of cells; By scoring 200 cells, the lab can detect mosaicism present in as few as 2% of cells; By scoring 250 or more cells, the lab can detect mosaicism present in 1% or fewer cells. […] 3. Microarray test: This test is completed using DNA that is extracted from cells. As a result, this test can be completed from a blood specimen, a buccal swab (rubbing of cells from the inside of the cheek), or a skin biopsy. Given that this test also involves an analysis of DNA from all chromosomes, it can identify other chromosomal findings that are present (not just Down syndrome or mosaic Down syndrome). One limitation of this test is that it cannot determine if the person has Down syndrome due to an additional structurally normal chromosome 21 or a translocation (that requires the chromosome test described above [option 1]). The presence of mosaicism that can be detected using this test will vary from lab to lab. However, using this assay, most labs can detect mosaicism that is present in as few as 4% to 10% of cells.

• #1 Down Syndrome Screening: Early Detection by Scan and NIPT

  https://www.londonpregnancy.com/down-syndrome-trisomy-21/

  We specialise in advanced screening, NIPT, expert scans, and addressing all concerns related to Down syndrome during pregnancy. […] We provide a second opinion ultrasound on findings associated with Down syndrome. […] At present, NIPT stands as the most advanced screening for Down syndrome, available starting from 10 weeks of pregnancy. NIPT demonstrates an exceptionally high negative predictive value for Down syndrome, indicating that if the test shows a low chance, the likelihood of delivering a baby with Down syndrome is exceedingly slim. […] NIPT stands out as the best Down syndrome screening test due to its high negative predictive value meaning its effectiveness in ruling out the condition coupled with a notably low rate of false positive results. NIPT offers the advantage of delivering results as early as 10 weeks into the pregnancy.

• #1 Down Syndrome Screening: Early Detection by Scan and NIPT

  https://www.londonpregnancy.com/down-syndrome-trisomy-21/

  False-negative NIPT results for Down syndrome are uncommon. […] NIPT might not reliably detect cases of Down syndrome caused by certain translocation chromosomal rearrangements, such as the 21q;21q rearrangement. […] NIPT primarily screens for common chromosomal abnormalities, such as trisomy 21 (Down syndrome), by detecting extra fetal cfDNA related to chromosome 21. […] NIPT is designed to assess the risk based on the presence of an additional copy of chromosome 21, regardless of whether its due to a Robertsonian translocation or free trisomy. […] NIPT might not specifically identify the type of trisomy or detect the specific genetic rearrangements linked with translocation Down syndrome. […] When NIPT suggests a high chance of trisomy 21, but subsequent ultrasounds show normal fetal development, it could indicate confined placental mosaicism. […] If the babys NIPT results indicate a high chance of trisomy 21, but the ultrasound shows no signs of this condition, we offer early fetal echocardiography as a next step.

• #1 Down Syndrome: how to communicate the diagnosis | Italian Journal of Pediatrics | Full Text

  https://ijponline.biomedcentral.com/articles/10.1186/s13052-023-01419-6

  Communicating the diagnosis of Down Syndrome to a couple of parents is never easy, whether before or after birth. […] The information about a suspected Down syndromes (DS) diagnosis, given either before or after birth, has a profound effect on parents. […] Most families report a degree of dissatisfaction with the way in which doctors told them the diagnosis, with the information they were given, which was often described as outdated and overly negative, and with the support they received afterwards. […] The physician should prepare to communicate the diagnosis as soon as it is reached and, according to several studies, it is preferable to inform parents when the diagnosis is still uncertain. […] The communication of the uncertain diagnosis, instead, must be part of a truthful and empathetic dialogue between the physician and parents, where there can be time to cut back their fears and provide the appropriate information for this stage, discouraging parents from using other means of information.

• #1 Down Syndrome: how to communicate the diagnosis | Italian Journal of Pediatrics | Full Text

  https://ijponline.biomedcentral.com/articles/10.1186/s13052-023-01419-6

  As clinicians, we need to remember that time for dialogue is time for cure: we need to dedicate time to answer all parents’ questions and provide them with accurate and current information, including an overview of DS and referrals to local and national support groups. […] It is essential to ensure a quiet and private setting for the dialogue. […] The diagnosis must be communicated to both parents at the same time, if possible, and not in the presence of other people such as visitors or roommates. […] Most of our opinions and beliefs reflect what we have learned in the course of our clinical practice, so it is important that those talking to parents are doctors who are up-to-date on the syndrome and have professional experience with children with DS. […] The emotional difficulty experienced by the doctor himself at the thought of communicating such a diagnosis may erroneously lead him to have an overly optimistic attitude, thus risking making the parent, who is experiencing sadness and discouragement at the news, feel guilty.

• #1 Down Syndrome: how to communicate the diagnosis | Italian Journal of Pediatrics | Full Text

  https://ijponline.biomedcentral.com/articles/10.1186/s13052-023-01419-6

  The best attitude, therefore, is not to let our emotions show too much, but to be ready to welcome and legitimise the parents’ emotions, aware that for some this may be „bad news” while for others it is experienced with greater serenity from the very beginning. […] The fear, discouragement and disorientation that we as doctors may feel when faced with a diagnosis of disease is absolutely understandable and human. […] As in all health care contexts, it is essential to create a good relationship of trust between doctor and patient so that parents feel supported in their decision-making process and feel they have the elements to make an informed choice. […] The diagnosis must be communicated neutrally, i.e. without accompanying it with phrases that may imply a personal judgement. […] The doctor must adopt an empathetic attitude towards the parents with a communication style that is sensitive and caring, but at the same time confident and clear, using simple language.

• #1 Down Syndrome: how to communicate the diagnosis | Italian Journal of Pediatrics | Full Text

  https://ijponline.biomedcentral.com/articles/10.1186/s13052-023-01419-6

  Once the simple diagnosis has been communicated, it is helpful to stop and ask the parents what they know about the syndrome: this is a good way of being non-directive, sounding out the parents’ reaction and setting up the best possible discussion afterwards. […] After listening to the parents, the doctor should try to calmly answer their questions and concerns and then give them a brief summary of the features of the syndrome, trying to present them with a balanced view of the positive and negative aspects. […] The description of the possible comorbidities should be always accompanied by a description of the possible therapeutic strategies, when available, and of the currently achievable outcomes. […] Communicating the diagnosis does not end with the first meeting, but requires continuity of care, providing references for access to information, resources and help, and planning a new meeting with the family if they so wish. […] In conclusion there is no doubt that the moment of the communication of the diagnosis should be only the first moment in accompanying and support parents in the process of sense-making about the diagnosis and decision-making.

• #2 Down Syndrome: Prenatal Risk Assessment and Diagnosis | AAFP

  https://www.aafp.org/pubs/afp/issues/2000/0815/p825.html

  Down syndrome (trisomy 21) is the most commonly recognized genetic cause of mental retardation. The risk of trisomy 21 is directly related to maternal age. All forms of prenatal testing for Down syndrome must be voluntary. A nondirective approach should be used when presenting patients with options for prenatal screening and diagnostic testing. Patients who will be 35 years or older on their due date should be offered chorionic villus sampling or second-trimester amniocentesis. Women younger than 35 years should be offered maternal serum screening at 16 to 18 weeks of gestation. […] The diagnosis is confirmed by karyotype analysis. Trisomy 21 is present in 95 percent of persons with Down syndrome. […] Prenatal diagnosis of trisomy 21 allows parents the choice of continuing or terminating an affected pregnancy.

• #2 About Down Syndrome | National Down Syndrome Society (NDSS)

  https://ndss.org/about

  How is Down syndrome diagnosed? […] There are two categories of tests for Down syndrome that can be performed before a baby is born: screening tests and diagnostic tests. […] Prenatal screens estimate the chance of the fetus having Down syndrome. […] Diagnostic tests, on the other hand, can provide a definitive diagnosis with almost 100% accuracy. […] The diagnostic procedures available for prenatal diagnosis of Down syndrome are chorionic villus sampling (CVS) and amniocentesis. […] Down syndrome is usually identified at birth by the presence of certain physical traits: low muscle tone, a single deep crease across the palm of the hand, a slightly flattened facial profile, and an upward slant to the eyes. […] Because these features may be present in babies without Down syndrome, a chromosomal analysis called a karyotype is done to confirm the diagnosis. […] By examining the karyotype, doctors can diagnose Down syndrome. […] Another genetic test called fluorescence in situ hybridization (FISH) can confirm a diagnosis in a shorter amount of time by visualizing and mapping the genetic material in an individual’s cells.

• #2 Understanding a Diagnosis of Down Syndrome | National Down Syndrome Society (NDSS)

  https://ndss.org/lifespan/understanding-a-diagnosis-of-down-syndrome

  The National Down Syndrome Society (NDSS) advocates for increased FDA oversight of noninvasive prenatal screening tests (NIPTs) for Trisomy 21 and supports legislation and advocacy at all levels for effective solutions toward that goal. […] NDSS advocates that up-to-date and accurate information on Down syndrome be delivered to women and families at the time of diagnosis. […] There are two types of tests for Down syndrome that can be performed before your baby is born: screening tests and diagnostic tests. […] Prenatal screenings estimate the chance of the fetus having Down syndrome. These tests do not tell you for sure whether your fetus has Down syndrome; they only provide a probability. Diagnostic tests, on the other hand, can provide a definitive diagnosis with almost 100% accuracy.

• #2 Prenatal Screening for Down’s Syndrome

  https://patient.info/doctor/prenatal-screening-for-downs-syndrome

  There are two methods of screening for Down’s syndrome: serum screening and ultrasound screening (nuchal translucency). […] The screening test is positive if this probability is equal to, or greater than, a nationally agreed cut-off level. […] The current cut-off level in England is a 1 in 150 chance (that the pregnant woman is carrying a baby with Down’s syndrome). These women are then offered diagnostic testing. […] The integrated test offers the most effective and safe method of screening for women who attend in the first trimester. […] The quadruple test is the best test for women who first present in the second trimester. […] The combined test has a higher detection rate and lower FPR when compared with other screening tests. […] This led NICE to the conclusion that the combined test should be the screening test offered to women in the first trimester. This has good diagnostic accuracy for Down’s syndrome and other chromosomal abnormalities. […] The examination of fetal cells in the maternal circulation for prenatal diagnosis is currently being evaluated and may reduce the need for invasive tests such as chorionic villus sampling (CVS) and amniocentesis.

• #2

  https://www.gov.uk/government/publications/screening-tests-for-you-and-your-baby/downs-syndrome-edwards-syndrome-and-pataus-syndrome-combined-or-quadruple-test-taken-on-or-after-1-june-2021

  The second screening test is another blood test called NIPT (non-invasive prenatal testing). NIPT is more accurate than the combined or quadruple test, though it is not quite as accurate in twin pregnancies. […] Diagnostic tests give a definite answer. They test cells from the placenta or fluid surrounding your baby. […] Following the diagnostic test, some women will find out their baby has Downs syndrome, Edwards syndrome or Pataus syndrome. They can then choose to continue with the pregnancy or decide not to continue with the pregnancy and have a termination.

• #2 Screening for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome – Antenatal Results and Choices (ARC)

  https://www.arc-uk.org/tests-explained/screening-for-downs-syndrome-edwards-syndrome-and-pataus-syndrome/

  Screening tests for these three conditions are non-invasive tests which are offered to all pregnant women in the UK. They are not diagnostic and so cannot give a yes or no answer. […] Most women with an increased chance result will not have a baby with one of the syndromes. If your hospital uses a 1 in 150 cut-off, then results outside this, from 1 in 151 and beyond are classified as low chance. It is important to remember that this does not mean your baby definitely does not have a syndrome, it means it is very unlikely. […] Although Downs syndrome screening tests are not 100% accurate, the screening test offered by your hospital should meet the standards set by the UK National Screening Committee. […] Current guidelines say that a screening test must detect 75% of babies with Downs syndrome with a screen positive rate of no more than 3%. The term screen positive describes those women who were given an increased chance result which is a result giving a chance of between 1 in 2 and 1 in 149 of the baby having Downs syndrome.

• #2 Down syndrome – Wikipedia

  https://en.wikipedia.org/wiki/Down_syndrome

  Amniocentesis and chorionic villus sampling are more reliable tests, but they increase the risk of miscarriage by between 0.5-1%. […] A diagnosis can often be suspected based on the child’s physical appearance at birth. An analysis of the child’s chromosomes is needed to confirm the diagnosis, and to determine if a translocation is present, as this may help determine the chances of the child’s parents having further children with Down syndrome.

• #2 Down Syndrome Workup: Approach Considerations, Laboratory Studies, Radiography and Ultrasonography

  https://emedicine.medscape.com/article/943216-workup

  The diagnosis of Down syndrome is most commonly made by prenatal screening followed by definitive diagnostic testing. […] Diagnosis should be confirmed through chromosomal analysis. […] The clinical diagnosis of trisomy 21 should be confirmed with cytogenetic studies. […] Fluorescence in situ hybridization (FISH) may be used for rapid diagnosis of trisomy 21. […] A positive screening result with the above methods only suggests an increased risk for Down syndrome, and definitive testing with chorionic villus sampling or amniocentesis and chromosomal analysis is indicated. […] Amniocentesis, routinely performed at 14-16 weeks gestation, remains the criterion standard of invasive diagnostic tests. Testing for chromosomal disorders is 99.5% accurate. […] Chorionic villus sampling (CVS) is performed at 10-13 weeks gestation; the accuracy of CVS (96-98%) is less than that of midtrimester amniocentesis. […] The auditory brainstem response (ABR), also known as the brainstem auditory evoked response (BAER), may be tested to demonstrate hearing loss.

• #2 Understanding a Down Syndrome Diagnosis

  https://mydoctor.kaiserpermanente.org/mas/news/understanding-a-down-syndrome-diagnosis-1893918

  If you are a parent who has been told your child might have (or does) have Down syndrome, you probably have millions of questions on your mind. […] Knowing about a diagnosis of Down syndrome can help you and your child’s doctors know how to best support your child and what additional medical concerns to be on the lookout for. Earlier awareness and detection can be helpful. […] All pregnant women have the option to screen for chromosomal abnormalities, including Down syndrome. The ob-gyn coordinates the screening, which can be done through ultrasound exam and blood tests. These tests will show whether the baby is at elevated risk for Down syndrome; they do not provide a definitive diagnosis. […] If the test results show an elevated risk, families then need to decide whether they want to confirm the diagnosis before or after birth. Tests that can be done before birth include chorionic villus sampling (CVS) and amniocentesis. If parents choose to wait until after birth, doctors can usually tell by physically examining the newborn whether the baby has Down syndrome, and then will confirm the diagnosis through blood tests.

• #2 Understanding a Down Syndrome Diagnosis

  https://mydoctor.kaiserpermanente.org/mas/news/understanding-a-down-syndrome-diagnosis-1893918

  Each year, about 6,000 babies born in the United States have Down syndrome, according to the U.S. Centers for Disease Control and Prevention. It is the most common chromosomal disorder in the United States. The risk of having a baby with Down syndrome increases with the mother’s age. […] While the physical features associated with Down syndrome are fairly well known – a short neck, flattened face, small ears, eyes that slant up and short stature – many people don’t realize that children with Down syndrome are at risk for other medical challenges. […] Some of the medical complications children with Down syndrome experience may include: Congenital heart defects. Approximately half of children with Down syndrome will have a heart condition, such as atrioventricular septal defect, ventricular septal defect, persistent ductus arteriosus or tetralogy of Fallot. […] I tell parents to have realistic expectations for their child with Down syndrome and to remain optimistic. People with Down syndrome can learn how to communicate effectively, hold jobs and interact well with others. They generally have happy, healthy lives and rewarding relationships.

• #2 Understanding a Diagnosis of Down Syndrome | National Down Syndrome Society (NDSS)

  https://ndss.org/lifespan/understanding-a-diagnosis-of-down-syndrome

  It is important to note that none of these prenatal screens will be able to definitively diagnose Down syndrome. […] In recent years, noninvasive prenatal screening tests have been made available. […] The diagnostic procedures available for prenatal diagnosis of Down syndrome are chorionic villus sampling (CVS) and amniocentesis. […] Amniocentesis and CVS are also able to distinguish between these genetic types of Down syndrome: trisomy 21, translocation Down syndrome, and mosaic Down syndrome. […] Whether or not to undergo a prenatal screening or diagnostic test is a personal decision, and expectant parents must make the choice that is best for them. […] Doctors will usually suspect Down syndrome if certain physical characteristics are present. […] To obtain a karyotype, doctors draw a blood sample to examine your baby’s cells. […] By examining the karyotype, they can determine accurately whether or not your baby has Down syndrome.

• #2 How Down Syndrome Is Diagnosed

  https://www.verywellhealth.com/diagnosing-down-syndrome-1120396

  A karyotype is an analysis of a baby’s genetic makeup that looks at the number of chromosomes they have under a microscope. […] In the case of Down syndrome, there is an extra chromosome in the 21st spot, meaning there are three of this particular chromosome. […] According to the National Down Syndrome Society (NDSS), the test is nearly 100% accurate in diagnosing Down syndrome prenatally. […] To confirm the diagnosis, a blood sample will be taken and used to create a karyotype. […] Down syndrome can almost always be diagnosed soon after birth due to the recognizable physical features this condition causes. Some features of Down syndrome can be detected before birth during routine ultrasounds in the first and second trimesters of pregnancy. Positive ultrasounds prompt further investigation with blood tests or amniocentesis, which may confirm a diagnosis.

• #2 International Mosaic Down Syndrome Association – How to get a diagnoses

  https://www.imdsa.org/How-to-get-a-diagnoses

  How is testing completed to diagnose mosaic Down syndrome? Testing to diagnose mosaic Down syndrome is completed by a genetics laboratory that is accredited to perform diagnostic testing. The individuals chromosomal make-up can be evaluated using either: (1) a conventional chromosome test; (2) a fluorescence in situ hybridization test; or (3) a microarray test. […] 1. Conventional chromosome test: This test is most frequently used for evaluating a person to determine if he or she has Down syndrome or mosaicism for trisomy 21. This test is usually completed from a blood specimen but can also be completed from a skin biopsy. The analysis includes an assessment of the number of chromosomes present, as well as the structure of the chromosomes. This test can distinguish if a person has Down syndrome/mosaic Down syndrome due to an additional structurally normal chromosome 21 or if they have Down syndrome/mosaic Down syndrome as a result of a chromosome rearrangement (such as a translocation). Given that this test also involves an analysis of all chromosomes, it can identify other chromosomal findings that are present (not just Down syndrome). Typically, 20 cells are evaluated in this test. If the request for testing is to rule out mosaicism, typically 30 to 50 cells will be evaluated. By evaluating 20 cells, labs will be able to detect mosaicism if it is present in as few as 11% of cells; By scoring 30 cells, the lab can detect mosaicism present in as few as 8% of cells; By scoring 50 cells, the lab can detect mosaicism present in as few as 5% of cells.

• #2 Clinical strategy study on prenatal screening and diagnostic model for Down syndrome | Scientific Reports

  https://www.nature.com/articles/s41598-024-73183-4

  In addition, only 13% of high-risk pregnant women have foetuses with DS. […] However, increasing the detection rate and decreasing the false-negative rate often requires increasing the false-positive rate as a cost. […] In 2008, Lo and Chiu first published a study on detecting foetal chromosomal aneuploidy abnormalities via cfDNA in maternal plasma, which is known as non-invasive prenatal testing/screening (NIPT/NIPS). […] Although NIPS cannot screen for open neural tube defects (ONTDs) compared with traditional serological screening systems, it significantly improves the detection rate of common foetal chromosomal aneuploidy diseases, such as trisomy 21, 18, and 13, while reducing the false-positive rate. […] Currently, NIPS is the subsequent screening after serological screening in China; however, this does not interfere with the right of an ordinary pregnant woman to independently choose NIPS as a first-line test.

• #2 Clinical strategy study on prenatal screening and diagnostic model for Down syndrome | Scientific Reports

  https://www.nature.com/articles/s41598-024-73183-4

  This study suggests that the cost-effectiveness of providing NIPS as a conditional screening model for the serological screening of intermediate-risk pregnant women was greater than the NIPS first-line screening strategy. […] This study indicates that the cost of NIPS should be significantly reduced. […] Our results indicate that the current and widely used sequential screening strategy of NIPS for pregnant women with a risk value of DS between the high-risk cut-off value and 1/1000 based on serology in the second trimester of pregnancy has the highest cost-effective NPV and the best cost-effectiveness and benefit evaluations.

• #2 Prenatal Risk Assessment and Diagnosis of Down Syndrome: Strategies for Communicating Well with Patients | Journal of Ethics | American Medical Association

  https://journalofethics.ama-assn.org/article/prenatal-risk-assessment-and-diagnosis-down-syndrome-strategies-communicating-well-patients/2016-04

  Amelia wonders what kind of counseling Victoria received prior to arriving in the abortion clinic, particularly since she has not had a true diagnostic test for Down syndrome, such as a chorionic villus sample, and there were no notes in her health record from any genetic counseling sessions. […] While Down syndrome can be suspected prenatally based on serologic screening, the diagnosis can only be definitively made using chorionic villus sampling (CVS) or amniocentesis. […] This means presenting all the potential options, including continuing the pregnancy, beginning arrangements for their child’s adoption, and terminating the pregnancy. […] It is crucial for her physician to convey that abortion is not the only acceptable option for Victoria. […] In the case, it is not clear what, if any, counseling Victoria had prior to the current clinical encounter.

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