Amniocentesis rate and the detection of down syndrome and other chromosomal anomalies in Israel

Mordechai Shohat, Edna Akstein, Bella Davidov, Gad Barkai, Cyril Legum, Miriam David, Hanna Dar, Yitzhak Romem, Aliza Amiel, Hana Cohen, Gideon Bach, Ziva Ben‐Neriah, Ruth N. Sheffer, Zvi Appelman, Juan Chemke, Pnina Zadka, Tamy Zer, Boleslaw Goldman

Research output: Contribution to journalArticlepeer-review

14 Scopus citations

Abstract

We investigated the contribution of different screening criteria to the prenatal detection of Down syndrome (DS) as well as other chromosomal anomalies in the Jewish population in Israel during 1990 and 1992. There was a significant decrease (P<0·03) in the incidence of DS live‐births during 1992 (40:78 442) compared with 1990 (69:73 751) which paralleled a marked increase in total prenatal testing and in DS cases detected prenatally. Private laboratories, which perform amniocenteses mostly for women with a low risk of DS and without genetic counselling, had a significantly lower detection rate (1:917) compared with that of the genetic institutes, which following genetic counselling test both women ≥ 37 years of age (1:91) and women younger than 37 years (1:113). The detection of chromosomal anomalies other than DS was less affected by the reason for amniocentesis. Amniocentesis indicated by maternal serum marker screening of women younger than 37 years identified a greater number of chromosomal anomalies other than DS than amniocentesis based on age (≥37 years) alone (111:9604 versus 94:9810; P<0·06). Prenatal detection of DS is most effective when the indication for amniocentesis follows genetic counselling. The increasing use of maternal serum marker screening leads to a significant improvement in the positive detection rate of chromosomal anomalies other than DS in young women.

Original languageEnglish
Pages (from-to)967-970
Number of pages4
JournalPrenatal Diagnosis
Volume15
Issue number10
DOIs
StatePublished - 1 Jan 1995
Externally publishedYes

Keywords

  • CVS
  • Down syndrome
  • Jews
  • amniocentesis
  • live‐birth
  • non‐Jewish population

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