Maternal serum free beta-hCG and PAPP-A in fetal sex chromosome defects inthe first trimester

Citation
K. Spencer et al., Maternal serum free beta-hCG and PAPP-A in fetal sex chromosome defects inthe first trimester, PRENAT DIAG, 20(5), 2000, pp. 390-394
Citations number
16
Categorie Soggetti
Reproductive Medicine","Medical Research Diagnosis & Treatment
Journal title
PRENATAL DIAGNOSIS
ISSN journal
01973851 → ACNP
Volume
20
Issue
5
Year of publication
2000
Pages
390 - 394
Database
ISI
SICI code
0197-3851(200005)20:5<390:MSFBAP>2.0.ZU;2-Z
Abstract
We have studied maternal serum free beta-hCG and PAPP-A, and fetal nuchal t ranslucency (NT) in a series of 46 cases of fetal Turner's syndrome, 13 cas es of other sex chromosomal anomalies and compared these with 947 control p regnancies in the first trimester. In cases of Turner's syndrome (45,X) the median fetal NT was significantly higher than in controls (4.76 MoM), the median PAPP-A was significantly lower (0.49 MoM), whilst the free beta-hCG was not significantly different (1.11 MoM). For NT, 93% (43/46) of cases we re equal to or greater than the 95th centile of controls, for PAPP-A 35% (1 6/46) of cases were less than or equal to the 5th centile of controls and f or free beta-hCG 15% (7/46) of cases were equal to or greater than the 95th centile of controls. For other sex chromosomal anomalies (47XXX, XXY, XYY) the median NT was increased (2.07 MoM) whilst PAPP-A was not significantly decreased (0.88 MoM) and free beta-hCG was not significantly different (1. 07 MoM) from controls. Using a previously derived multivariate risk algorit hm for trisomy 21, incorporating NT, PAPP-A, free beta-hCG and maternal age , 96% of the Turner's cases and 62% of the other sex chromosomal anomalies would have been identified. Copyright (C) 2000 John Wiley & Sons, Ltd.