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
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.