Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

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Abstrakt

Tytuł:: Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Autorzy:: Palomaki GE; Alpert Medical School, Brown University, Providence, RI, USA.
Bupp C; Michigan State University Department of Pediatrics, Lansing, MI, USA.; DeVos Children's Hospita, Grand Rapids, MI, USA.
Gregg AR; Baylor University Medical Center, Dallas, TX, USA.
Norton ME; Department of Obstetrics, Gynecology and Reproductive Science, University of California, San Francisco, CA, USA.
Oglesbee D; ACMG Committee Liaison, Mayo Clinic, Rochester, MN, USA.
Best RG; University of South Carolina SOM Greenville, Greenville, SC, USA.
Corporate Authors:: ACMG Biochemical Genetics Subcommittee of the Laboratory Quality Assurance Committee
Źródło:: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Mar; Vol. 22 (3), pp. 462-474. Date of Electronic Publication: 2019 Nov 08.
Typ publikacji:: Journal Article
Język:: English
Imprint Name(s):: Publication: 2022- : [New York] : Elsevier
Original Publication: Baltimore, MD : Lippincott, Williams & Wilkins, c1998-
MeSH Terms:: Genetic Testing/*standards
Molecular Diagnostic Techniques/*standards
Neural Tube Defects/*diagnosis
alpha-Fetoproteins/*genetics
Amniotic Fluid ; Female ; Genomics/standards ; Gestational Age ; Humans ; Laboratories/standards ; Mutation/genetics ; Neural Tube Defects/epidemiology ; Neural Tube Defects/genetics ; Neural Tube Defects/pathology ; Pregnancy ; Pregnancy Trimester, Second ; Prenatal Diagnosis/standards ; United States/epidemiology ; alpha-Fetoproteins/isolation & purification
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Contributed Indexing:: Keywords: alpha-fetoprotein; anencephaly; open neural tube defects; open spina bifida; prenatal testing
Substance Nomenclature:: 0 (alpha-Fetoproteins)
Entry Date(s):: Date Created: 20191109 Date Completed: 20210203 Latest Revision: 20220210
Update Code:: 20240105
DOI:: 10.1038/s41436-019-0681-0
PMID:: 31700163
: Czasopismo naukowe

Open neural tube defects (ONTDs) include open spina bifida (OSB) and anencephaly. These defects are caused by incomplete closure of the neural tube at about 4 weeks of pregnancy. Levels of early second-trimester maternal serum (ms) alpha-fetoprotein (AFP) are sufficiently elevated in affected pregnancies to be used as a population-based screening test. The basic screening methodology was described in the late 1970s and screening programs were active a few years later. By identifying pregnancies with the highest msAFP levels, about 80% of OSB and 95% of anencephaly can be identified as early as 16 weeks gestation. The interpretation of msAFP levels is complicated by the need to consider multiple factors such as gestational age, maternal weight, maternal race, multiple gestations, and more. Testing for AFP and acetylcholinesterase in amniotic fluid and/or identification of the lesion by targeted ultrasound is considered diagnostic of ONTD. When a diagnosis is 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 of any additional anomalies. Screening for ONTD should be performed as part of a comprehensive program linking primary obstetrical care providers, laboratorians, and high-risk clinicians.

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