TY - JOUR
T1 - Laboratory screening and diagnosis of open neural tube defects, 2019 revision
T2 - a technical standard of the American College of Medical Genetics and Genomics (ACMG)
AU - on behalf of the ACMG Biochemical Genetics Subcommittee of the Laboratory Quality Assurance Committee
AU - Palomaki, Glenn E.
AU - Bupp, Caleb
AU - Gregg, Anthony R.
AU - Norton, Mary E.
AU - Oglesbee, Devin
AU - Best, Robert G.
N1 - Publisher Copyright:
© 2019, American College of Medical Genetics and Genomics.
PY - 2020/3/1
Y1 - 2020/3/1
N2 - Open neural tube defects (ONTDs) include open spina bifida (OSB) andanencephaly. These defects are caused by incomplete closure of the neural tube atabout 4 weeks of pregnancy. Levels of early second-trimester maternal serum (ms)alpha-fetoprotein (AFP) are sufficiently elevated in affected pregnancies to be usedas a population-based screening test. The basic screening methodology was describedin the late 1970s and screening programs were active a few years later. Byidentifying pregnancies with the highest msAFP levels, about 80% of OSB and 95% ofanencephaly can be identified as early as 16 weeks gestation. The interpretation ofmsAFP levels is complicated by the need to consider multiple factors such asgestational age, maternal weight, maternal race, multiple gestations, and more.Testing for AFP and acetylcholinesterase in amniotic fluid and/or identification ofthe lesion by targeted ultrasound is considered diagnostic of ONTD. When a diagnosisis made, options include termination, surgery after delivery, or in utero surgery,depending on factors such as location and size of the defect, and the presence ofany additional anomalies. Screening for ONTD should be performed as part of acomprehensive program linking primary obstetrical care providers, laboratorians, andhigh-risk clinicians.
AB - Open neural tube defects (ONTDs) include open spina bifida (OSB) andanencephaly. These defects are caused by incomplete closure of the neural tube atabout 4 weeks of pregnancy. Levels of early second-trimester maternal serum (ms)alpha-fetoprotein (AFP) are sufficiently elevated in affected pregnancies to be usedas a population-based screening test. The basic screening methodology was describedin the late 1970s and screening programs were active a few years later. Byidentifying pregnancies with the highest msAFP levels, about 80% of OSB and 95% ofanencephaly can be identified as early as 16 weeks gestation. The interpretation ofmsAFP levels is complicated by the need to consider multiple factors such asgestational age, maternal weight, maternal race, multiple gestations, and more.Testing for AFP and acetylcholinesterase in amniotic fluid and/or identification ofthe lesion by targeted ultrasound is considered diagnostic of ONTD. When a diagnosisis made, options include termination, surgery after delivery, or in utero surgery,depending on factors such as location and size of the defect, and the presence ofany additional anomalies. Screening for ONTD should be performed as part of acomprehensive program linking primary obstetrical care providers, laboratorians, andhigh-risk clinicians.
KW - alpha-fetoprotein
KW - anencephaly
KW - open neural tube defects
KW - open spina bifida
KW - prenatal testing
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U2 - 10.1038/s41436-019-0681-0
DO - 10.1038/s41436-019-0681-0
M3 - Article
C2 - 31700163
AN - SCOPUS:85074858871
SN - 1098-3600
VL - 22
SP - 462
EP - 474
JO - Genetics in Medicine
JF - Genetics in Medicine
IS - 3
ER -