Abstract
Our aim was to evaluate the potential value of the ratio of the maternal urinary beta‐core fragment of human chorionic gonadotropin (βC‐hCG) to creatinine (Cr) in discriminating between normal pregnancies and pregnancies associated with fetal chromosomal abnormalities. We hypothesized that pregnancies with fetal chromosomal abnormalities had abnormal quantities of βC‐hCG in the urine. The aims of the present study were to investigate retrospectively whether maternal urinary ratios of βC‐hCG/Cr are abnormal in women carrying fetuses with chromosome aberrations and to determine normative median values and a reference range for βC‐hCG/Cr between 14 and 19 weeks' gestation. Maternal urinary βC‐hCG and Cr concentrations were measured in 150 healthy women from 14 to 19 weeks and compared with ten cases of fetal chromosomal abnormalities matched for gestational age. The preliminary cut‐off points corresponded to 0·29 multiple of the normal median (MOM) and 2·83 MOM, which were equivalent to the tenth and 90th centiles of the normal range. Of ten cases of fetal chromosomal abnormalities, one out of one (100 per cent) case with trisomy 18 and three of four (75 per cent) cases of variant 9 chromosome had low βC‐hCG/Cr (≤0·29 MOM). One of five (20 per cent) cases with Down syndrome had elevated βC‐hCG/Cr (≤2·83 MOM). Urinary βC‐hCG/Cr ratios obtained in the second trimester may be useful for improved detection efficiency of Down syndrome, trisomy 18, and inversion of chromosome 9. Second‐trimester maternal urinary βC‐hCG/Cr should be investigated further as a potential marker for fetal chromosome anomalies.