Second trimester maternal serum analytes in triploid pregnancies: correlation with phenotype and sex chromosome...

Second trimester maternal serum alpha-fetoprotein (MS-AFP), human chorionic gonadotrophin (hCG), unconjugated estiol (uE3), and inhibin-A (INH-A) levels were evaluated in pregnancies complicated by triploidy. In addition to seven new triploid pregnancies, the results for 67 published cases were reviewed. All cases appear to fall into two major groups. First, those identifiable as screen-positive for both Down syndrome and an open neural tube defect (ONTD) with elevated MS-AFP, grossly elevated hCG, low/normal uE3, and probably elevated INH-A. Pregnancies in the second group are identifiable as screen-positive for trisomy 18 with low/normal MS-AFP, and very low hCG, uE3 and INH-A. Triploid pregnancies with high maternal serum hCG nearly always show a placenta with partial mole (25/27 or 93%), a high frequency of ONTDs or ventral wall defects (VWDs) (8/28 or 29%) and have either an XXX or XXY karyotype (observed ratio 6:10, respectively). Low hCG is infrequently associated with a molar placenta (1/11 or 9%), does not appear to be associated with ONTDs or VWDs (0/29 or 0%), and shows an excess of XXX over XXY karyotypes (observed ratio 17:2). There were 16 cases with either a molar placenta, an ONTD or a VWD that received the MS-AFP and hCG tests. All 16 were screen-positive for an ONTD (MS-AFP> or =2 multiples of the median). In addition, all 31 cases that received MS-AFP, hCG, uE3 (and where available INH-A) were screen-positive for either Down syndrome or trisomy 18. The findings are discussed in the context of expected differences between digynic and diandric triploidy. It is suggested that the sex chromosome complement in triploidy is an important factor in determining risk for partial mole development and in utero survival.