Materiały źródłowe

• #1 Edwards Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK570597/

  Edwards syndrome was first reported by Edwards et al in 1960 in a neonate with multiple congenital malformations and cognitive deficits. Trisomy 18 is an autosomal chromosomal aneuploidy caused by an extra chromosome 18, leading to various congenital malformations, and is the second most common autosomal trisomy after trisomy 21. […] Edwards syndrome, also called trisomy 18, is an autosomal chromosomal disorder caused by an extra copy of chromosome 18. This disorder is one of the autosomal trisomy syndromes, second in frequency only to trisomy 21. […] Edwards syndrome typically results from an extra copy of chromosome 18q. There are 3 types of Edwards syndrome: complete trisomy 18, partial trisomy 18, and mosaic trisomy 18. […] Complete trisomy 18 is the most common form (94%). In this type, every cell contains 3 complete copies of chromosome 18. The extra chromosome is due to nondisjunction, mostly during meiosis II. The extra chromosome is most often of maternal origin. The frequency of nondisjunction errors increases with advancing maternal age.

• #1 Edwards Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK570597/

  The phenotype of Edwards syndrome appears to be associated with 3 copies of 2 critical regions on the long arm of chromosome 18, specifically from 18q12.1 to 18q21.2 and 18q22.3 to 18qter. Severe mental retardation in Edwards syndrome may be associated with trisomy of 18q12.1 to 18q21.2. The trisomy of the short arm of chromosome 18 (18p) does not seem to cause any of the major features of Edwards syndrome.

• #2 Trisomy 18 – Wikipedia

  https://en.wikipedia.org/wiki/Trisomy_18

  Trisomy 18, also known as Edwards syndrome, is a genetic disorder caused by the presence of a third copy of all or part of chromosome 18. Many parts of the body are affected. Babies are often born small and have heart defects. Other features include a small head, small jaw, clenched fists with overlapping fingers, and severe intellectual disability. […] Most cases of trisomy 18 occur due to problems during the formation of the reproductive cells or during early development. The chance of this condition occurring increases with the mother’s age. Rarely, cases may be inherited. Occasionally, not all cells have the extra chromosome, known as mosaic trisomy, and symptoms in these cases may be less severe. […] Trisomy 18 is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on the 18th chromosome, either in whole (trisomy 18) or in part (such as due to translocations). The additional chromosome usually occurs before conception. The effects of the extra copy vary greatly, depending on the extent of the extra copy, genetic history, and chance.

• #3 The trisomy 18 syndrome | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-7-81

  The trisomy 18 (or Edwards syndrome) phenotype results from full, mosaic, or partial trisomy 18q. Complete or full trisomy 18 is the most common form (about 94% of cases); in this situation every cell contains three entire copies of chromosome 18. […] Most authorities have suggested that the extra chromosome is present because of nondisjunction. In parent-of-origin analyses the extra chromosome is most often of maternal origin, the result of an error during the segregation of chromosomes in meiosis or postzygotic mitosis. About 50% of the nondisjunctional errors in oogenesis occur in meiosis II, unlike other human trisomies where the malsegregation is more frequent in meiosis I. […] The cause of nondisjunction is unknown. Recently a higher prevalence of methylene tetrahydrofolate reductase gene (MTHFR) polymorphisms in mothers of trisomy 18 fetuses compared with other groups was reported but this result has not been replicated.

• #4 The trisomy 18 syndrome | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-7-81

  As in the other common autosomal trisomies, the frequency of nondisjunctional errors increases with advancing maternal age. […] In individuals carrying mosaic trisomy 18 (less than 5% of cases), both a complete trisomy 18 and a normal cell line exist. The phenotype is extremely variable, ranging from complete trisomy 18 phenotype with early mortality to apparently phenotypically normal adults, in which the mosaicism is detected after the diagnosis of complete trisomy 18 in a child. […] There is no correlation between the percentage of trisomy 18 cells in either blood cells or skin fibroblasts and the severity of clinical manifestations and intellectual disabilities. […] In the partial trisomy form only a segment of the chromosome 18 long arm is present in triplicate, often resulting from a balanced translocation or inversion carried by one parent. This type of trisomy accounts for approximately 2% of cases presenting with the Edwards phenotype.

• #5 Trisomy 18: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/trisomy-18/

  Trisomy 18, also called Edwards syndrome, is a chromosomal condition associated with abnormalities in many parts of the body. […] Most cases of trisomy 18 result from having three copies of chromosome 18 in each cell in the body instead of the usual two copies. The extra genetic material disrupts the normal course of development, causing the characteristic features of trisomy 18. […] Approximately 5 percent of people with trisomy 18 have an extra copy of chromosome 18 in only some of the body’s cells. In these people, the condition is called mosaic trisomy 18. The severity of mosaic trisomy 18 depends on the type and number of cells that have the extra chromosome. […] Very rarely, part of the long (q) arm of chromosome 18 becomes attached (translocated) to another chromosome during the formation of reproductive cells (eggs and sperm) or very early in embryonic development. Affected individuals have two copies of chromosome 18, plus the extra material from chromosome 18 attached to another chromosome. People with this genetic change are said to have partial trisomy 18.

• #5 Trisomy 18: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/trisomy-18/

  Most cases of trisomy 18 are not inherited, but occur as random events during the formation of eggs and sperm. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. […] Mosaic trisomy 18 is also not inherited. It occurs as a random event during cell division early in embryonic development. […] Partial trisomy 18 can be inherited. An unaffected person can carry a rearrangement of genetic material between chromosome 18 and another chromosome.

• #6 EDWARD SYNDROME | PPT

  https://www.slideshare.net/slideshow/edward-syndrome-31260040/31260040

  Edwards syndrome, also known as Trisomy 18, is a genetic disorder caused by the presence of an extra 18th chromosome. It results in physical abnormalities and intellectual disabilities. Prognosis is generally poor, with 50% surviving the first week and only 5-10% living beyond one year. Treatment focuses on management of symptoms and organ dysfunction. The condition is not inherited but rather caused by a random chromosomal error and cannot be passed to future generations. […] The extra chromosome is present because of non disjunction methylene tetrahydrofolate reductase gene (MTHFR) Polymorphisms in mothers Advancing maternal age. A small positive association of paternal age. […] PATHOGENESIS caused by a genetic abnormality before conception, when egg and sperm cells are made. A healthy egg or sperm cell contains 23 individual chromosomes one to contribute to each of the 23 pairs of chromosomes needed to form a healthy, 46 chromosome cell. […] PATHOGENESIS sometimes egg and sperm cells are left with 24 (or more) chromosomes. joining of these egg or sperm cells a trisomy fetus to be formed.

• #7 Trisomy 18 – Pediatrics – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/pediatrics/chromosome-and-gene-abnormalities/trisomy-18

  Trisomy 18 is caused by an extra chromosome 18 and is usually associated with intellectual disability, small birth size, and various congenital anomalies, including severe microcephaly, heart defects, prominent occiput, low-set malformed ears, and a characteristic pinched facial appearance. […] The extra chromosome is almost always maternally derived, and advanced maternal age increases risk. […] Diagnosis of trisomy 18 may be suspected postnatally by appearance, or prenatally on ultrasonography (eg, with abnormalities of extremities and fetal growth restriction), or by multiple marker screening or noninvasive prenatal screening (NIPS) using cell-free fetal DNA analysis on a maternal blood sample. […] Confirmation prenatally is by cytogenetic testing (karyotyping, FISH analysis, and/or chromosomal microarray analysis) of samples obtained by amniocentesis or chorionic villus sampling, or postnatally by testing peripheral blood for women who did not wish to have additional procedures during pregnancy.

• #8 Edwards syndrome (trisomy 18) — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/edwards-syndrome-trisomy-18/

  The chance increases with maternal age. […] Recurrence risk is usually low, though some couples may have an increased recurrence risk due to parental germline mosaicism. […] A minority of families may have a reciprocal translocation a structural rearrangement of the chromosomes in which one copy of chromosome 18 is attached to another chromosome.

• #9 The trisomy 18 syndrome | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-7-81

  The region of long arm of chromosome 18 extending from q11.2 has been proposed as the critical region for trisomy 18 phenotype, but some controversial data have been reported. […] Boghosian-Sell et al. hypothesized the presence of two critical regions along the long arm of chromosome 18: one proximal region lying within 18q12.1-18q21.2 and another one more distal lying within 18q22.33-18qter.

• #10 Edwards Syndrome | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/20899

  Edwards syndrome, also called trisomy 18, is an autosomal chromosomal disorder caused by an extra copy of chromosome 18. […] Edwards syndrome typically results from an extra copy of chromosome 18q. There are 3 types of Edwards syndrome: complete trisomy 18, partial trisomy 18, and mosaic trisomy 18. […] Complete trisomy 18 is the most common form (94%). In this type, every cell contains 3 complete copies of chromosome 18. The extra chromosome is due to nondisjunction, mostly during meiosis II. The extra chromosome is most often of maternal origin. The frequency of nondisjunction errors increases with advancing maternal age. […] The phenotype of Edwards syndrome appears to be associated with 3 copies of 2 critical regions on the long arm of chromosome 18, specifically from 18q12.1 to 18q21.2 and 18q22.3 to 18qter. Severe mental retardation in Edwards syndrome may be associated with trisomy of 18q12.1 to 18q21.2. The trisomy of the short arm of chromosome 18 (18p) does not seem to cause any of the major features of Edwards syndrome.

• #11 Edwards (Trisomy 18) – Pediatric Pathology – Work and Learning Resources – Department of Pathology – University of Rochester Medical Center

  https://www.urmc.rochester.edu/urmc-labs/pathology/work-learning-resources/pediatric-pathology/trisomy18.aspx

  Karyotype analysis showed a female fetus with 47, XX, +18/46, XX karyotype. This is consistent with an Edward syndrome (trisomy 18) mosaicism. […] It usually results from nondisjunction occurring in maternal meiosis II. A full trisomy is involved in 95% of the cases. Genotypic mosaicism may result from a postzygotic mitotic nondisjunction. […] A translocation can also produce the syndrome. The phenotype can again be variable here, however if the region 18q11-q12 is present in triplet then the most serious trisomy 18 anomalies will be present.

• #12 EDWARDS SYNDROME (TRISOMY 18)

  https://medicover-genetics.com/product/edwards-syndrome/

  Mosaic and partial forms of trisomy 18 are the ones with the best chances of survival; a small percentage that may survive well into adulthood, although with significant developmental and physiological delays. Interestingly, girls with trisomy 18 are found to respond better to treatment and survive longer than boys with trisomy 18.

• #13 Edwards Syndrome (Trisomy 18) – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/edwards-syndrome-trisomy-18/

  The rarest type is partial Edwards syndrome, which only accounts for about 2% of all cases. With this type, only part of chromosome 18 is extra. This typically occurs when there’s an equal swap of chromosome pieces or a rearrangement of one of the parents chromosomes. The symptoms of partial Edwards syndrome can vary based on location and extent of the extra part of chromosome 18. […] The chance of having a baby with Edwards syndrome increases as the mother gets older. The risk of having another child with complete Edwards syndrome in future pregnancies is around 0.5% to 1%. However, if one of the parents has an equal swap of chromosome pieces resulting in a rearrangement in the child, like in partial Edwards syndrome, the risk can go up to 20% in future pregnancies.

• #14 Trisomy 18 and 13 | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/trisomy-18-and-13

  The extra chromosome 18 or 13 can come from either the mother’s egg cell or the father’s sperm cell. […] In some instances, the extra chromosome 18 or 13 is attached to another chromosome in the egg or sperm. This is called translocation and is the only form of trisomy 18 or 13 that can be inherited. Sometimes, a parent can carry a „balanced” rearrangement in which chromosome 18 or 13 is attached to another chromosome. However, since the parent does not have any extra or missing chromosome material, they are said to have a „balanced translocation” and they are usually normal and healthy.

• #15 Trisomy 18 (Edwards Syndrome): Life Expectancy Symptoms & Causes

  https://www.emedicinehealth.com/trisomy_18_edwards_syndrome/article_em.htm

  Trisomy 18 or Edwards syndrome is a genetic disorder Trisomy 18 leads to severe intellectual and physical defects. […] Trisomy 18 (Edwards syndrome) results from the presence of an extra copy of chromosome 18. […] Trisomy 18 is not an inherited condition. It occurs as the result of random events during egg and sperm formation. The type of error that occurs is known as nondisjunction, and this leads to an egg or sperm cell with an abnormal number of chromosomes. […] It is not known precisely why the extra genetic material causes the abnormalities specific to trisomy 18. As with Down syndrome (trisomy 21), experts believe that the presence of the extra chromosomal material interferes with the expression and interaction of various genes, resulting in impaired development and function. […] Trisomy 18 syndrome: There are three instead of the normal two chromosomes #18. Children with this condition have multiple malformations and mental retardation due to the extra chromosome #18. The children characteristically have low birth weight, small head (microcephaly), small jaw (micrognathia), malformations of the heart and kidneys, clenched fists with abnormal finger positioning, and malformed feet. The mental retardation is profound with the IQ too low to even test. Nineteen out of 20 (95%) of these children die before their first birthday. The condition is also called Edwards syndrome in honor of the British physician and geneticist John Edwards who discovered the extra chromosome in 1960.

• #16 Trisomy 18: Practice Essentials, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/943463-overview

  Trisomy 18 severely affects all organ systems. […] In translocations that result in partial trisomy or in cases of mosaic trisomy 18, clinical expression is less severe, and survival is usually longer.

• #17 Edwards Syndrome (Trisomy 18): Genetic Condition, Symptoms & Outlook

  https://my.clevelandclinic.org/health/diseases/22172-edwards-syndrome

  Edwards syndrome (trisomy 18) is a genetic condition that causes physical growth delays during fetal development. […] Edwards syndrome (trisomy 18) affects how your baby’s body develops and grows, which causes multiple birth defects. […] Edwards syndrome, also known as trisomy 18, is a very severe genetic condition that affects how your child’s body develops and grows. […] The condition occurs when a person has an extra copy of chromosome 18, which is random and unpredictable. […] Having three copies of chromosome 18 instead of the typical two causes Edwards syndrome (trisomy 18). […] When a third copy of a cell joins a pair, a trisomy occurs. Trisomy means three bodies. If someone receives an Edwards syndrome diagnosis, they have a third copy of chromosome 18 in their cells. […] Issues relating to the heart affect nearly 90% of children diagnosed with Edwards syndrome (trisomy 18) and are the leading cause of premature death among infants who have the condition, next to respiratory failure. […] The survival rate varies for babies born with Edwards syndrome (trisomy 18): Between 60% and 75% survive to their first week. […] Children born with Edwards syndrome (trisomy 18) will need specialized care to address their unique symptoms immediately after they are born.

• #18 Trisomy 18 (Edwards Syndrome) – Mississippi State Department of Health

  https://msdh.ms.gov/page/41,0,285,981.html

  Trisomy 18, known as Edwards Syndrome, is a rare condition resulting from genetic errors on the 18th chromosome. […] The disorder occurs in approximately 1 in 5,000 live births and much more commonly affects females than males. […] This disorder often results in physical deformities, defects in internal organs, and severe intellectual and developmental disabilities. […] Most children born with Trisomy 18 will have heart defects. […] Other significant health concerns may include defects in the structure and functioning of various internal organs, including the lungs, kidneys, stomach and intestines. […] Some will have malformations of the head, neck, face, eye, ears, hands, feet and spine. […] In addition, children with Trisomy 18 have slow growth, significant neurodevelopmental delays, especially motor difficulties which impair daily living such as feeding or crying, severe intellectual disabilities, and delayed speech.

• #19 Trisomy 18 (Edwards Syndrome) – Mississippi State Department of Health

  https://msdh.ms.gov/page/41,0,285,981.html

  Children with Trisomy 18 often have restricted growth prenatally and continue to have slow growth after birth. […] Most children with Trisomy 18 do not live beyond the first two weeks of life and fewer than 10% will live beyond the first year of life typically due to significant heart or lung defects. […] Although there is no cure for Trisomy 18, children may receive treatment to manage their specific symptoms and health conditions based on the decisions of their medical team and family.

• #20 Trisomy 18 – Pediatrics – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/pediatrics/chromosome-and-gene-abnormalities/trisomy-18

  The underlying genetic abnormality cannot be cured. […] Children with trisomy 18 have marked developmental delay and disability, so there is controversy about doing multiple, invasive procedures to correct various associated anomalies. […] Treatment of some of the associated anomalies has increased survival for certain people with trisomy 18, which has led to recognition of an increased risk of solid organ tumors (eg, hepatoblastoma, Wilms tumor). […] More than 50% of children die within the first week; only 5 to 10% survive the first year.

• #21 Edwards’ Syndrome: Causes, Symptoms, and Treatment | Doctor

  https://patient.info/doctor/edwards-syndrome-trisomy-18-pro

  Edwards’ syndrome (trisomy 18) is a common autosomal chromosomal disorder due to the presence of an extra chromosome 18. […] The Edwards’ syndrome phenotype results from full, mosaic or partial trisomy 18q. Full trisomy 18 is the most common form occurring in about 94% of cases. In full trisomy every cell contains three full copies of chromosome 18. […] Mosaics can occur in about 5% of cases in which some cells are normal with 46 chromosomes and others have the extra chromosome. Partial trisomy 18 can (rarely) occur if a segment of chromosome 18 is present in triplicate, usually due to a balanced translocation carried by one parent. […] Cytogenetic studies and chromosomal analysis will confirm the diagnosis. […] The major causes of death are sudden death due to central apnoea, cardiac failure due to cardiac malformations and respiratory insufficiency due to hypoventilation, aspiration, upper airway obstruction or a combination of these factors. […] A systematic review evaluating the accuracy of non-invasive prenatal diagnosis using cell-free fetal DNA in maternal plasma has confirmed the high accuracy of this technique for trisomies. For Edwards’ syndrome, the sensitivity was calculated as 97.4% and specificity as 99.95%.

• #22 Edwards’ syndrome (trisomy 18)

  https://www.nhs.uk/conditions/edwards-syndrome/

  Edwards’ syndrome (trisomy 18) is a genetic condition, caused by an extra chromosome in the bodys cells. With trisomy 18 there are 3 copies of chromosome 18 rather than the usual 2. […] It’s not possible to prevent Edwards’ syndrome. It happens by chance and is not linked to anything you did before or during pregnancy. […] Your chance of having a baby with Edwards’ syndrome increases as you get older. There’s also a small increased risk if youve already had a pregnancy or baby affected by Edwards syndrome. […] Although Edwards syndrome affects everyone differently, some types can cause more serious health conditions and affect how long a person born with Edwards’ syndrome lives. […] Most babies with full Edwards syndrome (full trisomy 18) die before or shortly after being born. […] Babies born with mosaic or partial trisomy 18 may have fewer health symptoms, and some will grow up to become adults. […] There’s currently no cure for Edwards’ syndrome, but there are treatments and support to help children and adults with the condition have the best possible quality of life.

• #23 Trisomy 18 (Edwards Syndrome)

  https://www.patientcareonline.com/view/trisomy-18-edwards-syndrome

  Trisomy 18 occurs in approximately 1 in 3000 to 7000 live births. The female to male ratio is 3:1. Approximately 80% of cases are caused by chromosomal nondisjunction and are associated with advanced maternal age. The remainder are caused by translocation. In the latter case, parental karyotypes should be obtained to determine whether one of the parents is a balanced translocation carrier.

• #24 Trisomy 18 (Edwards Syndrome)

  https://www.patientcareonline.com/view/trisomy-18-edwards-syndrome

  This newborn has trisomy 18, as manifested by intrauterine growth retardation (birth weight, 2350 g; length, 47.2 cm), microcephaly (head circumference, 31.5 cm), short neck, hypotonia, feeding difficulties, high-pitched cry, micrognathia, cleft palate, low-set ears, short sternum, widely spaced nipples, clenched hands with ulnar deviation and overlapping digits, micromelia, and a single umbilical artery. […] Other features of this syndrome include failure to thrive, mental retardation, hypertonia after the neonatal period, lack of subcutaneous fat, cutis marmorata, wide fontanels, prominent occiput, narrow bifrontal diameter of the forehead, ptosis, epicanthal folds, narrow palpebral fissures, corneal opacity, malformed ears, upturned nose, limited hip abduction, rocker-bottom feet, syndactyly of second and third toes, low arch dermal ridge pattern on 6 or more fingertips, hypoplasia of nails, simian crease, short dorsiflexed hallux, inguinal hernia, umbilical hernia, diaphragmatic hernia, omphalocele, cardiac defect (especially ventricular septal defect, atrial septal defect, or patent ductus arteriosus), renal anomalies (particularly horseshoe kidney, polycystic kidney, hydronephrosis, or hydroureter), Meckel diverticulum, cryptorchidism, hypoplasia of labia majora, and prominent clitoris.

• #25 Trisomy 18 (Edwards Syndrome) Types & Diagnosis | Cardinal Glennon

  https://www.ssmhealth.com/cardinal-glennon/fetal-care-institute/fetal-conditions-we-treat/genetic-syndromes/trisomy-18-(edwards-syndrome)

  Around 1 in every 5,000 babies is diagnosed with Trisomy 18, also known as Edwards syndrome. Trisomy 18 is caused when a person has three copies of chromosome #18 instead of the usual two, for a total of 47 chromosomes. […] This extra chromosome affects a baby’s development, resulting in a number of medical issues which may include: heart defects, digestive tract abnormalities, cleft lip, joint contractures (abnormal bending), vision and hearing problems, slow pre- and postnatal growth, seizures, and hypotonia (weak muscles). […] In other cases, Trisomy 18 can be inherited due to a familial chromosome rearrangement called a translocation. […] The diagnosis can be confirmed shortly after birth through blood testing. […] In addition to having birth defects and cognitive impairment, many babies diagnosed with Trisomy 18 pass away before they are born.

• #26 Trisomy 18: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/001661.htm

  Trisomy 18 is a genetic disorder in which a person has a third copy of material from chromosome 18, instead of the usual 2 copies. Rarely, the extra material may be attached to another chromosome (translocation). Most cases are not passed down through families. Instead, the problems that lead to this condition occur in either the sperm or the egg that forms the fetus. […] The syndrome occurs when there is extra material from chromosome 18. The extra material affects normal development. […] Most cases of Trisomy 18 are not passed down through families (inherited). Instead, the events that lead to trisomy 18 occur in either the sperm or the egg that forms the fetus. […] Chromosome studies will show trisomy 18. The chromosome abnormality may be present in every cell or present in only a certain percentage of the cells (called mosaicism). Studies may also show part of the chromosome in some cells. Rarely, part of the chromosome 18 becomes attached to another chromosome. This is called translocation.

• #27 Trisomy 18 (Edwards Syndrome): Symptoms, Life Expectancy & Treatment

  https://www.medicinenet.com/trisomy_18_edwards_syndrome/article.htm

  Trisomy 18 or Edwards syndrome is a genetic disorder that causes a raft of life-threatening birth defects. Trisomy 18 or Edwards syndrome is a genetic disorder that causes a raft of life-threatening birth defects. Only a small minority of infants born with Edwards syndrome live more than a year. […] Trisomy 18 is caused by the presence of an extra chromosome 18, and most frequently is of maternal origin and includes the entire chromosome in most cases (90%) rather than a part of the chromosome (also known as partial trisomy or incomplete trisomy). […] The treatment and management of children with Edwards syndrome is dependent upon the severity of findings. There is no definitive treatment for children with trisomy 18, and there are ethical issues surrounding the management of these newborns due to the high mortality rate and difficulty in predicting which infants will live beyond their first year of life. The major cause of death in many of these infants is sudden death due to neurological instability, cardiac failure, and respiratory failure. […] This is due to the increasing evidence that a collaborative model of decision making involving parents and providers is a better way to approach the child with Edwards syndrome.

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