Prenatal diagnosis of inborn errors of metabolism

R. Matalon

Research output: Contribution to journalArticlepeer-review


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
Issue number4
StatePublished - 1976
Externally publishedYes

ASJC Scopus subject areas

  • Obstetrics and Gynecology


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