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Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard...

Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2313362956

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

About this item

Full title

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

Publisher

New York: Elsevier Inc

Journal title

Genetics in medicine, 2020-03, Vol.22 (3), p.462-474

Language

English

Formats

Publication information

Publisher

New York: Elsevier Inc

More information

Scope and Contents

Contents

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 t...

Alternative Titles

Full title

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

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_2313362956

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2313362956

Other Identifiers

ISSN

1098-3600

E-ISSN

1530-0366

DOI

10.1038/s41436-019-0681-0

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