Prenatal diagnosis policy without routine amniocentesis in pregnancies with a positive family history for neural tube defects

Z. Papp, Z. Toth, O. Torok, M. Szabo

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

The recurrence risk for neural tube defects in pregnancies of women with a family history of neural tube defects greatly exceeds the general population risk. In these high risk pregnancies, we used a prenatal diagnostic method differing from that usually employed, relying mainly on the results of maternal serum alpha-fetoprotein (MSAFP) and ultrasound examination, without routine amniocentesis. During the 6 years reviewed in this study, this method was applied in 539 pregnancies. Of a total of 20 neural tube defects, 19 were detected using this combination of MSAFP, ultrasound, and selective amniocentesis, and the authors estimate that about 8-10 spontaneous abortions were avoided because only 28 amniocenteses were carried out instead of 539. The risk of recurrence was found to be lower than that experienced earlier.

Original languageEnglish
Pages (from-to)103-110
Number of pages8
JournalAmerican journal of medical genetics
Volume26
Issue number1
DOIs
Publication statusPublished - Jan 1 1987

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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