title: Accuracy of Down syndrome risks produced in a first-trimester screening programme incorporating fetal nuchal translucency thickness and maternal serum biochemistry.
abstract: Over the past three years approximately 12 000 women have been screened in the first trimester through our OSCAR programme, which utilizes fetal NT and maternal serum free beta-hCG and PAPP-A. During this time 30 cases of Down syndrome were identified either prenatally or postnatally. Using an established procedure the accuracy of predicted risk for Down syndrome was assessed in a population of 30 cases of Down syndrome and 11 758 unaffected pregnancies. The correlation between predicted risk and prevalence of Down syndrome was very high (r=0.9995). It is concluded that risks produced by the Fetal Medicine Foundation combined risk algorithm agree very closely with Down syndrome prevalence and can be used with confidence when counselling women of their risk.
authors.affiliation: Endocrine Unit, Department of Clinical Biochemistry, Harold Wood Hospital, Gubbins Lane, Romford, Essex, RM3 0BE, UK. KevinSpencer1@cs.com
authors.forename: Kevin
authors.initials: K
authors.lastname: Spencer
mesh_terms: D000465:Algorithms; D018997:Chorionic Gonadotropin, beta Subunit, Human / Q000097:blood*; D004314:Down Syndrome / Q000175:diagnosis* / Q000453:epidemiology; D005260:Female; D006801:Humans; D009333:Neck / Q000000981:diagnostic imaging*; D011247:Pregnancy; D011266:Pregnancy-Associated Plasma Protein-A / Q000032:analysis*; D011296:Prenatal Diagnosis / Q000379:methods*; D012307:Risk Factors; D012680:Sensitivity and Specificity; D016216:Ultrasonography, Prenatal
chemical_list: D018997:Chorionic Gonadotropin, beta Subunit, Human; D011266:Pregnancy-Associated Plasma Protein-A