title: [Maternal serum screening for congenital abnormalities and Down syndrome in Sønderjylland County. Eight years of experience].
abstract: From January 1991 to December 1998 second-trimester maternal serum screening (Doubletest and Tripletest) for malformations and Down syndrome has been offered to pregnant women younger than 35 years of age living in Sønderjyllands county, Denmark. Follow-up of all cases of chromosome abnormalities and severe foetal malformations identified pre- or postnatally has been carried out. A total of 17,023 women were screened. Sixty-eight percent (17/25) of Down Syndrome pregnancies were detected. Three percent of the screened women were offered an amniocentesis due to a calculated risk of DS greater than 1:400 at birth. The positive predictive value was 1:30. For the three-year period 1996-1998 (Tripletest) the results were more promising: 91% (10/11) were detected, 3.9% were offered an amniocentesis, the positive predictive value was 1:21. In the eight-year period 80% (8/10) of the spina bifida cases were detected, all the cases (6/6) of anencephaly and 75% (6/8) of abdominal wall defects. One point six percent of the screened women were offered an amniocentesis due to high risk of a neural tube defect. The results confirm that second trimester maternal serum screening is a reliable method for determining the risk of severe foetal malformations and Down syndrome.
authors.affiliation: Sønderborg Sygehus, gynaekologisk-obstetrisk afdeling.
authors.forename: M
authors.initials: M
authors.lastname: Christiansen
authors.forename: P L
authors.initials: PL
authors.lastname: Petersen
authors.forename: M
authors.initials: M
authors.lastname: Permin
authors.forename: L A
authors.initials: LA
authors.lastname: Larsen
authors.forename: B
authors.initials: B
authors.lastname: Nørgaard-Pedersen
mesh_terms: D000328:Adult; D015415:Biomarkers / Q000097:blood*; D006063:Chorionic Gonadotropin / Q000097:blood; D002869:Chromosome Aberrations / Q000097:blood* / Q000175:diagnosis; D025063:Chromosome Disorders; D003718:Denmark; D004314:Down Syndrome / Q000097:blood* / Q000175:diagnosis; D004964:Estriol / Q000097:blood; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008403:Mass Screening; D009436:Neural Tube Defects / Q000097:blood / Q000175:diagnosis; D010353:Patient Education as Topic; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D011795:Surveys and Questionnaires; D000509:alpha-Fetoproteins / Q000032:analysis*
chemical_list: D015415:Biomarkers; D006063:Chorionic Gonadotropin; D000509:alpha-Fetoproteins; D004964:Estriol