Prenatal diagnosis of Down syndrome: Ten year experience in the Israeli population

Mordechai Shohat, Helena Frimer, Vered Shohat-Levy, Hormoz Esmailzadeh, Zvi Appelman, Ziva Ben-Neriah, Hanna Dar, Avi Orr-Urtreger, Aliza Amiel, Ruth Gershoni, Esther Manor, Gad Barkai, Stavit Shalev, Zully Gelman-Kohen, Orit Reish, Dorit Lev, Bella Davidov, Boleslaw Goldman

Research output: Contribution to journalArticlepeer-review

27 Scopus citations


Second trimester maternal serum biochemical markers, introduced between 1990 and 1995, were supplemented with new ultrasound methods at 14-16 weeks and first trimester biochemical markers between 1995 and 2000. This study evaluated the effectiveness of a Down syndrome (DS) prevention program among the Israeli Jewish population between 1990 and 2000. We collected data on the total number of prenatal tests performed on Israeli Jewish women, DS cases detected prenatally and DS livebirths in Israel during these years. We also studied the use of the newer screening tests in 1990, 1992, and 2000. Between 1990 and 1995, use of chromosomal studies for DS in this population increased from 11.3% to 21.6% and the percentage of cases detected prenatally from 53% to 70%. However, between 1996 and 2000, even with the new screening methods, the utilization rate remained similar (20.7% and 19.8%, respectively) and the percentage detected prenatally decreased to 61% in 2000. The total cost per case detected increased from $47,971 in 1990 to $75,229 in 1992, and to $190,171 in 2000. Between 1990 and 1995, improvement in the percentage of cases detected prenatally was associated with a significant increase in the amniocentesis rate - both are attributed to the introduction of second trimester maternal serum biochemical marker tests. Unexpectedly, the introduction between 1995 and 2000 of new genetic methods to assess the DS risk did not improve the percentage detected or reduce the amniocentesis rate, and was accompanied by an increased cost per case detected.

Original languageEnglish
Pages (from-to)215-222
Number of pages8
JournalAmerican Journal of Medical Genetics
Volume122 A
Issue number3
StatePublished - 15 Oct 2003
Externally publishedYes


  • Cost of testing
  • Down syndrome
  • Prenatal diagnosis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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