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Fetal Chr. Abnormal

PB 226: Screening for Fetal Chromosomal Abnormalities

QuestionAnswer
Incidence of Trisomy 21 1 : 700
Incidence of Trisomy 18 1 : 3,000
Incidence of Trisomy 13 1 : 6,000
Incidence of Turners Syndrome 1 : 2,500
Detection rate of trisomy 21 for cfDNA 99% (false positive rate of 0.1%)
Serum analytes on 1st tri screen hCG, PAPP-A, AFP
Serum analytes on Quad screen hCG, AFP, Inhibin A, Estriol
Detection rate of trisomy 21 for Quad screen 80% (false positive rate of 5%)
Integrated Screening 1st tri screen + Quad Screen with results given after quad screen.
Sequential Screening 1st tri screen + Quad Screen with PRELIM results given after 1st tri screen with disadvantage of slightly higher false positive rate
Contingent Screening 1st tri screen results categorized as low/med/high risk and high risk results have a Quad screen performed
Created by: C.Beienburg
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