Maternal serum free beta-hCG and PAPP-A in fetal sex chromosome defects in the first trimester.
We have studied maternal serum free beta-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 beta-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 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 algorithm 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.
Spencer
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Endocrine Unit, Clinical Biochemistry Department, Harold Wood Hospital, Gubbins Lane, Romford, Essex RM3 0BE, UK. Kevin_Spencer@Compuserve.com
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D000293:Adolescent; D000328:Adult; D000465:Algorithms; D018997:Chorionic Gonadotropin, beta Subunit, Human / Q000097:blood*; D018568:Crown-Rump Length; D004314:Down Syndrome / Q000097:blood / Q000175:diagnosis; D005260:Female; D005865:Gestational Age; D006801:Humans; D008423:Maternal Age; D008875:Middle Aged; D009333:Neck / Q000000981:diagnostic imaging; D011247:Pregnancy; D011266:Pregnancy-Associated Plasma Protein-A / Q000032:analysis*; D011296:Prenatal Diagnosis; D012307:Risk Factors; D012729:Sex Chromosome Aberrations / Q000097:blood* / Q000175:diagnosis*; D014424:Turner Syndrome / Q000097:blood / Q000175:diagnosis; D016216:Ultrasonography, Prenatal
D018997:Chorionic Gonadotropin, beta Subunit, Human; D011266:Pregnancy-Associated Plasma Protein-A