Wenstrom K D, Boots L R, Cosper P C
Department of Obstetrics/Gynecology, University of Alabama, Birmingham, USA.
J Matern Fetal Med. 1996 Jan-Feb;5(1):31-5. doi: 10.1002/(SICI)1520-6661(199601/02)5:1<31::AID-MFM7>3.0.CO;2-U.
The goal of this study was to determine if the multiple marker screening test (maternal serum alpha-fetoprotein, unconjugated estriol, human chorionic gonadotrophin, and maternal age) detects fetal Turner syndrome or just cystic hygroma/hydrops. Multiple marker screening tests from 4 groups were compared: 1) Turner syndrome with hydrops/ hygroma group (n = 10) = fetuses with cystic hygroma/hydrops and a 45X karyotype, 2) Turner syndrome without hydrops/hygroma (n = 9) = sonographically unremarkable fetal Turner syndrome or Turner mosaic, 3) hydrops group (n = 8) = all cases of fetal cystic hygroma/hydrops excluding Turner syndrome, 4) sex chromosome aneuploidy group (n = 16) = other sonographically normal fetal sex chromosome aneuploidies. Positive screening tests (Down syndrome risk > or = 1:190 or MSAFP > or = 2.5 MOM) were found in 60% (6/10) of the Turner syndrome with hydrops/hygroma group, but only 11% (1/9) of the Turner syndrome without hydrops/hygroma group (P = .04). The incidence of positive screening tests in the Hydrops group was 75% (6/8), while it was only 12.5% (2/16) in the other sex chromosome aneuploidy group. We conclude that the multiple marker screening test identifies fetuses with cystic hygroma/hydrops, and may do so independently of the etiology of the hydrops.
本研究的目的是确定多标记筛查试验（母血清甲胎蛋白、非结合雌三醇、人绒毛膜促性腺激素和孕妇年龄）能否检测出胎儿特纳综合征，还是仅能检测出囊性水瘤/水肿。比较了4组的多标记筛查试验：1）伴有水肿/水瘤的特纳综合征组（n = 10）=患有囊性水瘤/水肿且核型为45X的胎儿；2）不伴有水肿/水瘤的特纳综合征组（n = 9）=超声检查无异常的胎儿特纳综合征或特纳嵌合体；3）水肿组（n = 8）=除特纳综合征外的所有胎儿囊性水瘤/水肿病例；4）性染色体非整倍体组（n = 16）=其他超声检查正常的胎儿性染色体非整倍体。伴有水肿/水瘤的特纳综合征组中60%（6/10）的病例筛查试验呈阳性（唐氏综合征风险≥1:190或甲胎蛋白≥2.5倍中位数），而不伴有水肿/水瘤的特纳综合征组中只有11%（1/9）的病例筛查试验呈阳性（P = 0.04）。水肿组筛查试验阳性的发生率为75%（6/8），而在其他性染色体非整倍体组中仅为12.5%（2/16）。我们得出结论，多标记筛查试验可识别患有囊性水瘤/水肿的胎儿，且可能独立于水肿的病因进行识别。
