title: [The development of screening tests for Down syndrome and the application of these tests in the Israeli health system].
abstract: Prenatal diagnosis of Down syndrome is possible by using the technology of amniocentesis and chorionic villus sampling [CVS]. Since these invasive procedures carry the risk of fetal loss they are used only for patients at risk for Down syndrome. The development of screening programs based on biochemical and ultrasound markers allows us to choose only the high risk patients. Screening programs for Down syndrome have been developed very quickly during the last three decades, allowing us to detect 95% of pregnancies with Down's syndrome with a false positive rate of 5%. In addition, in the near future, we hope to have non-invasive methods to diagnose Down's syndrome based on fetal DNA detected in maternal blood. The new developments in Down's syndrome screening have been established in Israel according to guidelines published by the Ministry of Health. However, it is still necessary to clarify some confusion associated with this fast-growing technology.
authors.affiliation: Department of Obstetrics and Gynecotogy, Rambam Medical Center. z_weiner@rambam.health.gov.il
authors.forename: Zeev
authors.initials: Z
authors.lastname: Weiner
authors.affiliation: Department of Ototaryngology, Rabin Medical Center.
authors.forename: Inon
authors.initials: I
authors.lastname: Buda
authors.affiliation: Hospital Management, Rambam Medical Center.
authors.forename: Michael
authors.initials: M
authors.lastname: Halberthal
mesh_terms: D000649:Amniocentesis / Q000009:adverse effects / Q000379:methods; D015193:Chorionic Villi Sampling / Q000009:adverse effects / Q000379:methods; D004247:DNA / Q000097:blood; D004314:Down Syndrome / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007557:Israel; D008403:Mass Screening / Q000379:methods*; D017410:Practice Guidelines as Topic; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000009:adverse effects / Q000379:methods*
chemical_list: D004247:DNA