title: Prenatal diagnosis of Down syndrome: ten year experience in the Israeli population.
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 US dollars in 1990 to $75,229 US dollars in 1992, and to $190,171 US dollars 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.
authors.affiliation: Department of Medical Genetics, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel. mshohat@ccsg.tau.ac.il
authors.forename: Mordechai
authors.initials: M
authors.lastname: Shohat
authors.forename: Helena
authors.initials: H
authors.lastname: Frimer
authors.forename: Vered
authors.initials: V
authors.lastname: Shohat-Levy
authors.forename: Hormoz
authors.initials: H
authors.lastname: Esmailzadeh
authors.forename: Zvi
authors.initials: Z
authors.lastname: Appelman
authors.forename: Ziva
authors.initials: Z
authors.lastname: Ben-Neriah
authors.forename: Hanna
authors.initials: H
authors.lastname: Dar
authors.forename: Avi
authors.initials: A
authors.lastname: Orr-Urtreger
authors.forename: Aliza
authors.initials: A
authors.lastname: Amiel
authors.forename: Ruth
authors.initials: R
authors.lastname: Gershoni
authors.forename: Esther
authors.initials: E
authors.lastname: Manor
authors.forename: Gad
authors.initials: G
authors.lastname: Barkai
authors.forename: Stavit
authors.initials: S
authors.lastname: Shalev
authors.forename: Zully
authors.initials: Z
authors.lastname: Gelman-Kohen
authors.forename: Orit
authors.initials: O
authors.lastname: Reish
authors.forename: Dorit
authors.initials: D
authors.lastname: Lev
authors.forename: Bella
authors.initials: B
authors.lastname: Davidov
authors.forename: Boleslaw
authors.initials: B
authors.lastname: Goldman
mesh_terms: D006063:Chorionic Gonadotropin / Q000097:blood; D004314:Down Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000517:prevention & control; D004964:Estriol / Q000097:blood; D005260:Female; D006801:Humans; D007557:Israel; D007585:Jews / Q000235:genetics; D008403:Mass Screening / Q000191:economics / Q000379:methods / Q000639:trends; D008423:Maternal Age; D011247:Pregnancy; D011256:Pregnancy Outcome; D011261:Pregnancy Trimester, First / Q000097:blood; D011262:Pregnancy Trimester, Second / Q000097:blood; D011296:Prenatal Diagnosis / Q000379:methods*; D016216:Ultrasonography, Prenatal; D000509:alpha-Fetoproteins / Q000032:analysis
chemical_list: D006063:Chorionic Gonadotropin; D000509:alpha-Fetoproteins; D004964:Estriol