Prenatal diagnosis of congenital malformations in 500 pregnancies

Publication date

1979-02

Authors

Leschot, N.J.
Treffers, P.E.
Verjaal, M.
Weduwen, J.J. der
Bennebroek Gravenhorst, J.
Coelingh Bennink, H.J.T.

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Document Type

Article
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Abstract

The organization, techniques used and diagnostic findings of 500 prenatal diagnoses are reported in detail. In 15 cases the pregnancy was terminated because of abnormal laboratory findings. Follow-up of the remaining pregnancies revealed a perinatal mortality of 1.7%, and the risk of an abortion induced by amniocentesis, performed in the 15–16th wk, to be 1–2%. Serious counseling problems arose in 2 cases with trisomy X, in 2 instances of a balanced chromosome translocation and in 1 case of a de novo translocation.

Keywords

risk of amniocentesis, genetic counseling, perinatal mortality, antenatal diagnosis, chromosome aberration, neural tube closure defect, series of 500 cases

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