Prenatal diagnosis of inborn errors of metabolism

Research output: Contribution to journalArticle

Abstract

More than 50 inborn errors of metabolism can be diagnosed in the fetus. This is accomplished by evaluation of constituents of the cell free amniotic fluid or of cultured or uncultured amniotic fluid cells. Only those syndromes with specific abnormal contributions to amniotic fluid can be so diagnosed. Currently diagnosable diseases and their assay methods are reviewed. Such assay methods must be able to differentiate the unaffected heterozygote from the affected homozygote.

Original languageEnglish (US)
Pages (from-to)301-307
Number of pages7
JournalInternational Journal of Gynecology and Obstetrics
Volume14
Issue number4
StatePublished - 1976
Externally publishedYes

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Inborn Errors Metabolism
Amniotic Fluid
Prenatal Diagnosis
Homozygote
Heterozygote
Fetus

ASJC Scopus subject areas

  • Obstetrics and Gynecology

Cite this

Prenatal diagnosis of inborn errors of metabolism. / Matalon, Reuben.

In: International Journal of Gynecology and Obstetrics, Vol. 14, No. 4, 1976, p. 301-307.

Research output: Contribution to journalArticle

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