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Maternal serum free β‐hCG and PAPP‐A in fetal sex chromosome defects in the first trimester
Author(s) -
Spencer Kevin,
Tul Natasha,
Nicolaides Kypros H.
Publication year - 2000
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(200005)20:5<390::aid-pd824>3.0.co;2-b
Subject(s) - trisomy , turner syndrome , fetus , down syndrome , medicine , aneuploidy , pregnancy associated plasma protein a , first trimester , obstetrics , gynecology , pregnancy , biology , chromosome , genetics , gene , psychiatry
Abstract We have studied maternal serum free β‐hCG and PAPP‐A, and fetal nuchal translucency (NT) in a series of 46 cases of fetal Turner's syndrome, 13 cases of other sex chromosomal anomalies and compared these with 947 control pregnancies 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 β‐hCG was not significantly different (1.11 MoM). For NT, 93% (43/46) of cases were equal to or greater than the 95th centile of controls, for PAPP‐A 35% (16/46) of cases were less than or equal to the 5th centile of controls and for free β‐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 β‐hCG was not significantly different (1.07 MoM) from controls. Using a previously derived multivariate risk algorithm for trisomy 21, incorporating NT, PAPP‐A, free β‐hCG and maternal age, 96% of the Turner's cases and 62% of the other sex chromosomal anomalies would have been identified. Copyright © 2000 John Wiley & Sons, Ltd.