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ORIGINAL RESEARCH |
From the Department of Obstetrics and Gynecology, the University of Hong Kong.
OBJECTIVE: Maternal serum free ß-human chorionic gonadotropin (ß-hCG) and pregnancy-associated plasma protein-A (PAPP-A) have been used effectively in the screening of Down syndrome in the first trimester. In this study, we aim to measure the value of first-trimester maternal serum free ß-hCG and PAPP-A as predictors of homozygous
0-thalassemiaaffected pregnancies.
METHODS: Free ß-hCG and PAPP-A concentrations were measured in stored maternal serum samples obtained at 12 weeks of gestation from 22 women with fetuses affected by homozygous
0-thalassemia and from 436 controls matched for maternal age, ethnicity, and weight, as well as gestation at blood sampling.
RESULTS: Maternal serum concentration of free ß-hCG was significantly increased in women with pregnancies affected by homozygous
0-thalassemia than in controls (P=.001). Concentrations of PAPP-A did not differ between the cases affected by homozygous
0-thalassemia and the controls (P=.652).
CONCLUSION: Pregnancies affected by homozygous
0-thalassemia are associated with increased maternal serum free ß-hCG at 1114 weeks of gestation. This serum analyte alone may not be clinically useful as a predictor of pregnancies affected by homozygous
0-thalassemia. However, the absence of ultrasound features of fetal anemia and hydropic changes, together with normal maternal serum free ß-hCG and PAPP-A in the first trimester, will be reassuring signs of normality for fetuses at risk of homozygous
0-thalassemia and, hence, enable women to avoid invasive tests in unaffected pregnancies.
LEVEL OF EVIDENCE: II-2
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