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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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. 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.</description><identifier>ISSN: 1552-4825</identifier><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1552-4833</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/ajmg.a.20246</identifier><identifier>PMID: 12966521</identifier><identifier>CODEN: AJMGDA</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>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</subject><ispartof>American journal of medical genetics, 2003-10, Vol.122A (3), p.215-222</ispartof><rights>Copyright © 2003 Wiley‐Liss, Inc.</rights><rights>2004 INIST-CNRS</rights><rights>Copyright 2003 Wiley-Liss, Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4326-27cf2ecdc70a5c60976c4ee91a38348044b3b70d2fb56035e169422ed6274f6c3</citedby><cites>FETCH-LOGICAL-c4326-27cf2ecdc70a5c60976c4ee91a38348044b3b70d2fb56035e169422ed6274f6c3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fajmg.a.20246$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fajmg.a.20246$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=15135763$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12966521$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Shohat, Mordechai</creatorcontrib><creatorcontrib>Frimer, Helena</creatorcontrib><creatorcontrib>Shohat-Levy, Vered</creatorcontrib><creatorcontrib>Esmailzadeh, Hormoz</creatorcontrib><creatorcontrib>Appelman, Zvi</creatorcontrib><creatorcontrib>Ben-Neriah, Ziva</creatorcontrib><creatorcontrib>Dar, Hanna</creatorcontrib><creatorcontrib>Orr-Urtreger, Avi</creatorcontrib><creatorcontrib>Amiel, Aliza</creatorcontrib><creatorcontrib>Gershoni, Ruth</creatorcontrib><creatorcontrib>Manor, Esther</creatorcontrib><creatorcontrib>Barkai, Gad</creatorcontrib><creatorcontrib>Shalev, Stavit</creatorcontrib><creatorcontrib>Gelman-Kohen, Zully</creatorcontrib><creatorcontrib>Reish, Orit</creatorcontrib><creatorcontrib>Lev, Dorit</creatorcontrib><creatorcontrib>Davidov, Bella</creatorcontrib><creatorcontrib>Goldman, Boleslaw</creatorcontrib><title>Prenatal diagnosis of Down syndrome: Ten year experience in the Israeli population</title><title>American journal of medical genetics</title><addtitle>Am. J. Med. Genet</addtitle><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. 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J. Med. Genet</addtitle><date>2003-10-15</date><risdate>2003</risdate><volume>122A</volume><issue>3</issue><spage>215</spage><epage>222</epage><pages>215-222</pages><issn>1552-4825</issn><issn>0148-7299</issn><eissn>1552-4833</eissn><eissn>1096-8628</eissn><coden>AJMGDA</coden><abstract>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.</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>12966521</pmid><doi>10.1002/ajmg.a.20246</doi><tpages>8</tpages></addata></record> |
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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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