Screening for trisomy 18 by fetal nuchal translucency and maternal serum free β -hCG and PAPP-A at 10-14 weeks of gestation

• Published in: Prenatal diagnosis 1999-11, Vol.19 (11), p.1035-1042
• Main Authors: Tul, Natasha, Spencer, Kevin, Noble, Penelope, Chan, Christine, Nicolaides, Kypros
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; biochemical screening; Biological and medical sciences; Case-Control Studies; Chorionic Gonadotropin, beta Subunit, Human - blood; Chromosomes, Human, Pair 18; Female; first trimester; free β-hCG; Gestational Age; Gynecology. Andrology. Obstetrics; Humans; Management. Prenatal diagnosis; Maternal Age; Medical sciences; Middle Aged; nuchal translucency; PAPP-A; Pregnancy; Pregnancy Trimester, Second; Pregnancy-Associated Plasma Protein-A - analysis; Pregnancy. Fetus. Placenta; prenatal screening; Regression Analysis; Trisomy - diagnosis; trisomy 18; Ultrasonography, Prenatal - standards; ultrasound screening
• ISSN: 0197-3851; 1097-0223
• DOI: 10.1002/(SICI)1097-0223(199911)19:11<1035::AID-PD694>3.0.CO;2-2

In a study of 50 cases of trisomy 18 compared with 947 controls we have found the median multiple of the median (MoM) of maternal serum free β human chorionic gonadotrophin to be significantly decreased (0.281 MoM) in samples collected between the 10th and 14th week of gestation. Similarly, maternal serum pregnancy associated plasma protein A (PAPP‐A) levels are also decreased (0.177 MoM), whilst the median nuchal translucency is significantly higher (3.272 MoM). Free β‐hCG MoM was less than the 5th centile of normal in 64 per cent of cases of trisomy 18 and for PAPP‐A was less than the 5th centile in 78 per cent of cases. Also, in 78 per cent of cases the nuchal translucency was above the 95th centile. When combined together in a multivariate algorithm with maternal age, we predict that 89 per cent of cases of trisomy 18 could be detected at a 1 per cent false‐positive rate. We conclude that specific trisomy 18 risks should be part of developing risk algorithms combining maternal serum biochemistry and nuchal translucency for use in first trimester screening alongside those for trisomy 21. Copyright © 1999 John Wiley & Sons, Ltd.