Lambert-Messerlian G M, Saller D N, Tumber M B, French C A, Peterson C J, Canick J A
Department of Pathology, Women and Infants Hospital, Brown University School of Medicine, Providence, Rhode Island 02905, USA.
Prenat Diagn. 1998 Oct;18(10):1061-7.
The objective was to investigate whether cases of fetal trisomy 18 and Turner syndrome with and without hydrops were associated with alterations in the second-trimester levels of maternal serum inhibin A. Twenty-one cases of trisomy 18, 10 cases of Turner syndrome without hydrops and 12 cases of Turner syndrome with hydrops were identified. Five control samples were matched to each case for date of sample collection and completed week of gestation. Inhibin A levels were modestly, but significantly reduced in cases of trisomy 18 (median = 0.88 MoM) and Turner syndrome without hydrops (median = 0.64 MoM). In contrast, inhibin A levels were markedly increased in cases of Turner syndrome with hydrops (median = 3.91 MoM). These data for Turner syndrome are similar to those for human chorionic gonadotropin (hCG). The addition of inhibin A to multiple marker screening (alpha-fetoprotein, unconjugated oestriol and hCG) resulted in a median increase in the Down syndrome risk of 2.6-fold in cases of Turner syndrome with hydrops. The addition of inhibin A to multiple marker Down syndrome screening programmes will be likely to enhance the detection of fetal Turner syndrome with hydrops, but will not contribute substantially to the detection of fetal trisomy 18.
目的是研究有或没有水肿的胎儿18三体综合征和特纳综合征病例是否与孕中期母体血清抑制素A水平的改变相关。共确定了21例18三体综合征病例、10例无水肿的特纳综合征病例和12例有水肿的特纳综合征病例。为每个病例匹配5个对照样本，以确保样本采集日期和妊娠周数一致。18三体综合征病例（中位数=0.88倍中位数）和无水肿的特纳综合征病例（中位数=0.64倍中位数）的抑制素A水平略有但显著降低。相比之下，有水肿的特纳综合征病例中抑制素A水平显著升高（中位数=3.91倍中位数）。特纳综合征的这些数据与人类绒毛膜促性腺激素（hCG）的数据相似。在多项标志物筛查（甲胎蛋白、未结合雌三醇和hCG）中加入抑制素A后，有水肿的特纳综合征病例唐氏综合征风险的中位数增加了2.6倍。在多项标志物唐氏综合征筛查项目中加入抑制素A可能会提高对有水肿的胎儿特纳综合征的检测率，但对胎儿18三体综合征的检测贡献不大。
