Maternal homocystinuria: studies of an untreated mother and fetus.

Abstract:

:A 20-year-old woman with untreated homocystinuria was examined when she was 18 weeks' pregnant. Amniocentesis was performed and raised levels of homocystine and methionine were present in the amniotic fluid. Assay of cystathionine synthetase activity in cultured amniotic fluid cells showed the carrier state for homocystinuria. An abortion was performed because of the possible adverse effects of continuing the pregnancy both for the mother and the fetus. No pathological abnormality was found in the aborted fetus. Further data are needed to assess the possible teratogenic effects of maternal homocystinuria and the adverse consequences of pregnancy in the affected mother.

journal_name

Arch Dis Child

authors

Kurczynski TW,Muir WA,Fleisher LD,Palomaki JF,Gaull GE,Rassin DK,Abramowsky C

doi

10.1136/adc.55.9.721

subject

Has Abstract

pub_date

1980-09-01 00:00:00

pages

721-3

issue

9

eissn

0003-9888

issn

1468-2044

journal_volume

55

pub_type

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