Saller D N, Canick J A, Schwartz S, Blitzer M G
Department of Obstetrics and Gynecology, Women and Infants Hospital, Brown University, Providence, Rhode Island.
Am J Obstet Gynecol. 1992 Oct;167(4 Pt 1):1021-4. doi: 10.1016/s0002-9378(12)80031-7.
The combination of maternal serum alpha-fetoprotein, unconjugated estriol, and human chorionic gonadotropin levels and maternal age has been used to increase the sensitivity of screening for fetal Down syndrome and trisomy 18 in early-second-trimester pregnancies. We hypothesized that a unique pattern of these analytes also may be characteristic of fetal Turner syndrome, with or without hydrops.
We studied preamniocentesis, second-trimester maternal serum specimens from seven hydropic and eight nonhydropic cases of fetal Turner syndrome. Clinical and pathologic records were reviewed. Statistical analysis of the data was performed by the rank sum test.
In both hydropic and nonhydropic cases, alpha-fetoprotein levels were slightly reduced, and unconjugated estriol levels were markedly reduced. In hydropic pregnancies human chorionic gonadotropin levels were elevated, and nonhydropic pregnancies had low human chorionic gonadotropin levels (p = 0.001).
The results suggest that the morphologic defect of hydrops, rather than the aneuploidy itself, is responsible for the elevation in human chorionic gonadotropin. In conjunction with the low unconjugated estriol levels, the elevation in human chorionic gonadotropin levels will result in the prenatal identification of hydropic fetal Turner syndrome pregnancies as being at increased risk for fetal Down syndrome.
母体血清甲胎蛋白、非结合雌三醇、人绒毛膜促性腺激素水平与母亲年龄相结合，已用于提高孕中期早期筛查胎儿唐氏综合征和18三体综合征的敏感性。我们推测，无论有无水肿，这些分析物的独特模式也可能是胎儿特纳综合征的特征。
我们研究了7例水肿型和8例非水肿型胎儿特纳综合征病例的羊膜腔穿刺术前、孕中期母体血清标本。回顾了临床和病理记录。数据采用秩和检验进行统计分析。
在水肿型和非水肿型病例中，甲胎蛋白水平均略有降低，非结合雌三醇水平显著降低。水肿型妊娠中人绒毛膜促性腺激素水平升高，非水肿型妊娠中人绒毛膜促性腺激素水平较低（p = 0.001）。
结果表明，水肿的形态学缺陷而非非整倍体本身是导致人绒毛膜促性腺激素升高的原因。结合低水平的非结合雌三醇，人绒毛膜促性腺激素水平升高将导致产前识别出水肿型胎儿特纳综合征妊娠为胎儿唐氏综合征风险增加。
