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

• Published in: Prenatal diagnosis Vol. 19; no. 5; pp. 458 - 462
• Main Authors: de Graaf, Irene M., Pajkrt, Eva, Bilardo, Caterina M., Leschot, Nico J., Cuckle, Howard S., van Lith, Jan M. M.
• Format: Journal Article
• Language: English
• Published: Chichester, UK John Wiley & Sons, Ltd 01.05.1999; Wiley
• Subjects: alpha-Fetoproteins - analysis; Aneuploidy; Biological and medical sciences; Biomarkers - analysis; Case-Control Studies; Chorionic Gonadotropin, beta Subunit, Human - blood; Down syndrome; Down Syndrome - blood; Down Syndrome - diagnostic imaging; Down Syndrome - genetics; Female; Fetal Diseases - blood; Fetal Diseases - diagnosis; Fetal Diseases - genetics; free β-hCG; Gynecology. Andrology. Obstetrics; Humans; Management. Prenatal diagnosis; Medical sciences; Normal Distribution; nuchal translucency; PAPP-A; Predictive Value of Tests; Pregnancy; Pregnancy-Associated Plasma Protein-A - analysis; Pregnancy. Fetus. Placenta; Prenatal Diagnosis - statistics & numerical data; Retrospective Studies; screening; Ultrasonography; Chromosomal aberration; Sonography; Human; Transparency; Biological marker; Aneuploidy; Early stage; Down syndrome; Congenital disease; Thickness; Prenatal; Human chorionic gonadotrophin; Echography; Fetus; Neck; Diagnosis
• ISSN: 0197-3851; 1097-0223
• DOI: 10.1002/(SICI)1097-0223(199905)19:5<458::AID-PD569>3.0.CO;2-A

We determined the aneuploidy detection rate achievable by early pregnancy screening with pregnancy associated plasma protein (PAPP)‐A, free β 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 β‐hCG 1.88 MOM (1.33–2.66); and NT 2.34 MOM (1.70–3.22). 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 β‐hCG; 68.4 per cent for NT alone; and 84.6 per cent for PAPP‐A, free β‐hCG and NT. The median values for Edwards syndrome were: 0.17 MOM for PAPP‐A; 0.18 MOM for free β‐hCG; and 2.64 MOM for NT. Early pregnancy screening with the combined measurement of maternal serum PAPP‐A and free β‐hCG and fetal nuchal translucency could achieve a high Down syndrome detection rate. Copyright © 1999 John Wiley & Sons, Ltd.