Author/Editor		Tul, Natasha; Spencer, Kevin; Noble, Penelope; Chan, Christine; Nicolaides, Kypros
Title		Screening for trisomy 18 by fetal nuchal translucency and maternal serum free beta-hCG and PAPP-A at 10-14 weeks of gestation
Type		članek
Source		Prenat Diagn
Vol. and No.		Letnik 19
Publication year		1999
Volume		str. 1035-42
Language		eng
Abstract		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 beta 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 beta-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 ina 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.
Descriptors		TRISOMY CHROMOSOMES, HUMAN, PAIR 18 PRENATAL DIAGNOSIS PREGNANCY TRIMESTER, FIRST CHORIONIC VILLI SAMPLING PREGNANCY MATERNAL AGE GESTATIONAL AGE FETAL HEART CHORIONIC GONADOTROPIN, BETA SUBUNIT, HUMAN PREGNANCY-ASSOCIATED ALPHA-PLASMA PROTEIN