Wladimiroff J W, Bhaggoe W R, Kristelijn M, Cohen-Overbeek T E, Den Hollander N S, Brandenburg H, Los F J
Department of Obstetrics and Gynaecology, Academic Hospital Rotterdam-Dijkzigt, The Netherlands.
Prenat Diagn. 1995 May;15(5):431-8. doi: 10.1002/pd.1970150505.
Structural pathology and outcome were studied in 170 chromosomally abnormal fetuses. Numerical chromosomal abnormalities were established in 158 (93 per cent) cases, of which 110 (71 per cent) represented trisomies, 30 (18 per cent) Turner syndrome, and 18 (11 per cent) triploidy. Structural chromosomal abnormalities were diagnosed in 12 (7 per cent) cases. Gestational age at referral was significantly shorter for pregnancies with Turner syndrome than for the other chromosomal abnormalities. Referral before 20 weeks of gestation was mainly based on fetal structural pathology alone (92 per cent); after 20 weeks, patients were referred because of structural pathology combined with small for gestational age, oligohydramnios, or polyhydramnios. Referral as a result of suspected multiple organ pathology occurred in 73.5 per cent of pregnancies. An abnormal amniotic fluid volume was present in 59/170 (34.5 per cent) chromosomally affected pregnancies, i.e., oligohydramnios in 31 and polyhydramnios in 28 cases. Birth weight was below the tenth percentile in over half of the chromosomally abnormal fetuses, except for Turner syndrome. Fetal outcome was poor, with a survival rate at 1 month of 30 per cent for trisomies which was mainly determined by trisomy 21 (14/18 = 77.5 per cent).
对170例染色体异常胎儿的结构病理学和结局进行了研究。158例（93%）确诊为染色体数目异常，其中110例（71%）为三体综合征，30例（18%）为特纳综合征，18例（11%）为三倍体。12例（7%）诊断为染色体结构异常。与其他染色体异常相比，特纳综合征妊娠的转诊孕周明显更短。妊娠20周前转诊主要仅基于胎儿结构病理学（92%）；20周后，患者因结构病理学合并小于孕周、羊水过少或羊水过多而转诊。因怀疑多器官病理学而转诊的妊娠占73.5%。170例染色体异常妊娠中有59例（34.5%）羊水体积异常，即31例羊水过少，28例羊水过多。除特纳综合征外，超过半数染色体异常胎儿的出生体重低于第十百分位数。胎儿结局较差，三体综合征1个月时的存活率为30%，主要由21三体决定（14/18 = 77.5%）。
