Stoll C G, Alembik Y, Dott B
Institut de Puériculture, Centre Hospitalo-Universitaire, Strasbourg, France.
Am J Obstet Gynecol. 1991 Sep;165(3):586-90. doi: 10.1016/0002-9378(91)90290-8.
Polyhydramnios associated with congenital anomalies was studied over nine years in 118,265 consecutive pregnancies. The prevalence of this association was 1.32% (156 cases). A case-control study allowed the examination of genetic and environmental factors for the origin of polyhydramnios associated with congenital malformations. Diagnosis of polyhydramnios associated with congenital malformations was performed prenatally in 41% of the cases; 16% of the infants were stillborn. Fifty-five percent of the cases had more than one malformation, 13.4% of them had a chromosomal aberration, and 32% had multiple malformations that do not constitute a syndrome. There was an increase of consanguinity in the parents of our patients. The incidence of polyhydramnios and congenital anomalies in first-degree relatives was 3.8%, and first-degree relatives had more malformations than the controls had (8.3% vs 3.2%). Our study demonstrated the low capacity of a general prenatal screening program because the diagnosis of malformations associated with polyhydramnios was made in only 41% of the cases and only six of 21 chromosomal abnormalities were diagnosed prenatally. We recommend the use of fetal chromosome analysis and careful ultrasonographic examination in every pregnancy complicated by polyhydramnios.
在连续118,265例妊娠中，对与先天性异常相关的羊水过多进行了为期九年的研究。这种关联的患病率为1.32%（156例）。一项病例对照研究对与先天性畸形相关的羊水过多的起源的遗传和环境因素进行了检查。41%的与先天性畸形相关的羊水过多病例在产前得到诊断；16%的婴儿为死产。55%的病例有不止一种畸形，其中13.4%有染色体畸变，32%有不构成综合征的多种畸形。我们患者的父母中近亲结婚的比例有所增加。一级亲属中羊水过多和先天性异常的发生率为3.8%，一级亲属的畸形比对照组更多（8.3%对3.2%）。我们的研究表明，一般产前筛查项目的能力较低，因为与羊水过多相关的畸形仅在41%的病例中得到诊断，21例染色体异常中只有6例在产前得到诊断。我们建议在每例并发羊水过多的妊娠中进行胎儿染色体分析和仔细的超声检查。
