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

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 t...

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Veröffentlicht in:American journal of medical genetics 2003-10, Vol.122A (3), p.215-222
Hauptverfasser: Shohat, Mordechai, Frimer, Helena, Shohat-Levy, Vered, Esmailzadeh, Hormoz, Appelman, Zvi, Ben-Neriah, Ziva, Dar, Hanna, Orr-Urtreger, Avi, Amiel, Aliza, Gershoni, Ruth, Manor, Esther, Barkai, Gad, Shalev, Stavit, Gelman-Kohen, Zully, Reish, Orit, Lev, Dorit, Davidov, Bella, Goldman, Boleslaw
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container_issue 3
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container_title American journal of medical genetics
container_volume 122A
creator Shohat, Mordechai
Frimer, Helena
Shohat-Levy, Vered
Esmailzadeh, Hormoz
Appelman, Zvi
Ben-Neriah, Ziva
Dar, Hanna
Orr-Urtreger, Avi
Amiel, Aliza
Gershoni, Ruth
Manor, Esther
Barkai, Gad
Shalev, Stavit
Gelman-Kohen, Zully
Reish, Orit
Lev, Dorit
Davidov, Bella
Goldman, Boleslaw
description 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. © 2003 Wiley‐Liss, Inc.
doi_str_mv 10.1002/ajmg.a.20246
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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. 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subjects alpha-Fetoproteins - analysis
Biological and medical sciences
Chorionic Gonadotropin - blood
Chromosome aberrations
cost of testing
Down syndrome
Down Syndrome - diagnosis
Down Syndrome - genetics
Down Syndrome - prevention & control
Estriol - blood
Female
Humans
Israel
Jews - genetics
Mass Screening - economics
Mass Screening - methods
Mass Screening - trends
Maternal Age
Medical genetics
Medical sciences
Pregnancy
Pregnancy Outcome
Pregnancy Trimester, First - blood
Pregnancy Trimester, Second - blood
prenatal diagnosis
Prenatal Diagnosis - methods
Ultrasonography, Prenatal
title Prenatal diagnosis of Down syndrome: Ten year experience in the Israeli population
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