Chen C P, Liu F F, Jan S W, Lee C C, Town D D, Lan C C
Department of Obsterics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China.
Acta Obstet Gynecol Scand. 1996 May;75(5):454-8. doi: 10.3109/00016349609033353.
Pregnancies complicated by fetal cystic hygroma in the second and third trimesters are often associated with hydrops fetalis, oligohydramnios or intrauterine fetal death which may make genetic assessment more difficult. We investigated the roles of amniocentesis, postmortem chorionic villus sampling and cystic hygroma paracentesis in cytogenetic evaluation of cystic hygroma under such circumstances.
Thirty-five fetuses of cystic hygroma associated with hydrops fetalis, oligohydrammos, or intrauterine fetal death were studied. All fetuses were delivered at Mackay Memorial Hospital, Taipei, Taiwan between January, 1987 and July, 1995. Data collected included maternal age, prenatal sonograms, gestational age at diagnosis, fetal karyotypes and diagnostic procedures.
Of 35 fetuses, all had hydrops fetalis, 19 had suffered IUFD at the time of diagnosis, and 10 had severe oligohydramnios. Cytogenetic studies were performed via amniocentesis, postmortem chorionic villus sampling, or cystic hygroma paracentesis. Successful karyotyping was achieved in 32 fetuses and the karyotype of 45,X was found in 24 fetuses. In cases with IUFD, successful karyotyping rates on cells from amniotic fluid, chorionic villi and cystic hygroma fluid were 88.9% (8 of 9), 69.2% (9 of 13) and 20% (1 of 5), respectively, whereas, in cases with living hydropic fetuses, successful karyotyping was achieved in 12 of 12 amniotic fluid and 5 of 5 cystic hygroma fluid samples.
Amniocentesis is a better method for cytogenetic evaluation of fetal cystic hygroma associated with intrauterine fetal death than postmortem chorionic villus sampling and cystic hygroma paracentesis. However, in the case with a living hydropic fetus and oligohydramnios, cystic hygroma paracentesis appears to be a practical alternative for cytogenetic assessment.
妊娠中期和晚期合并胎儿颈部水囊瘤常伴有胎儿水肿、羊水过少或宫内胎儿死亡，这可能使基因评估更加困难。我们研究了羊膜腔穿刺术、尸检绒毛取样和水囊瘤穿刺术在此种情况下对颈部水囊瘤进行细胞遗传学评估中的作用。
研究了35例伴有胎儿水肿、羊水过少或宫内胎儿死亡的颈部水囊瘤胎儿。所有胎儿均于1987年1月至1995年7月间在台湾台北市马偕纪念医院分娩。收集的数据包括产妇年龄、产前超声检查、诊断时的孕周、胎儿核型及诊断方法。
35例胎儿均有胎儿水肿，19例在诊断时已发生宫内胎儿死亡，10例有严重羊水过少。通过羊膜腔穿刺术、尸检绒毛取样或水囊瘤穿刺术进行细胞遗传学研究。32例胎儿成功进行了核型分析，24例胎儿核型为45,X。在宫内胎儿死亡的病例中，羊水、绒毛和水囊瘤液细胞的成功核型分析率分别为88.9%（9例中的8例）、69.2%（13例中的9例）和20%（5例中的1例），而在存活的水肿胎儿病例中，12例羊水样本和5例水囊瘤液样本均成功进行了核型分析。
对于合并宫内胎儿死亡的胎儿颈部水囊瘤，羊膜腔穿刺术是比尸检绒毛取样和水囊瘤穿刺术更好的细胞遗传学评估方法。然而，对于存活的水肿胎儿合并羊水过少的情况，水囊瘤穿刺术似乎是细胞遗传学评估的一种实用替代方法。
