Early pregnancy screening for fetal aneuploidy with serum markers and nuchal translucency

✍ Scribed by Irene M. de Graaf; Eva Pajkrt; Caterina M. Bilardo; Nico J. Leschot; Howard S. Cuckle; Jan M. M. van Lith

• Publisher: John Wiley and Sons
• Year: 1999
• Tongue: English
• Weight: 149 KB
• Volume: 19
• Category: Article
• ISSN: 0197-3851
• DOI: 10.1002/(sici)1097-0223(199905)19:5<458::aid-pd569>3.0.co;2-a

✦ Synopsis

We determined the aneuploidy detection rate achievable by early pregnancy screening with pregnancy associated plasma protein (PAPP)-A, free human chorionic gonadotrophin (hCG) and ultrasound nuchal translucency (NT) measurement. Women having prenatal diagnosis were scanned, and a blood sample was taken and stored. Stored samples were tested and a total of 37 were found to have Down syndrome, 8 to have Edwards syndrome and 255 were controls. Results were expressed in multiples of the gestation-specific median (MOM) value in the controls after regression and, for the serum markers, maternal weight adjustment. In Down syndrome the medians were for PAPP-A 0.63 MOM (95 per cent confidence interval (CI) 0.45-0.87); free -hCG 1.88 MOM (1.33-2.66); and NT 2.34 . Using these parameters the expected detection rate for a 5 per cent false-positive rate for different marker combinations were: 55.3 per cent for PAPP-A and free -hCG; 68.4 per cent for NT alone; and 84.6 per cent for PAPP-A, free -hCG and NT. The median values for Edwards syndrome were: 0.17 MOM for PAPP-A; 0.18 MOM for free -hCG; and 2.64 MOM for NT. Early pregnancy screening with the combined measurement of maternal serum PAPP-A and free -hCG and fetal nuchal translucency could achieve a high Down syndrome detection rate.