Diagnosis of polyhydramnios in early gestation: Indication for prenatal diagnosis?

Abstract

Previously published reports have indicated that idiopathic polyhydramnios may be associated with trisomies 18 and 21 and that chromosomal analysis is indicated. Furthermore, the natural history and fetal outcome of polyhydramnios diagnosed in early gestation have not been well delineated. We identified 138 pregnancies with polyhydramnios prior to 26 weeks' gestation. Of 131 complete cases, 21 were diagnosed as severe, 18 as moderate, and 92 as mild polyhydramnios. Congenital abnormalities were noted in 18 of 21 severe cases (86 per cent). Two of the remaining three cases were twin-to-twin transfusion. Thirteen of 18 cases with moderate polyhydramnios (72 per cent) were associated with anomalies; six of the remaining cases were twin-to-twin transfusion. Sixteen of 92 cases of mild polyhydramnios (17 per cent) were associated with congenital abnormalities. In 69 of 76 cases of mild hydramnios not associated with anomalies (91 per cent), the hydramnios resolved prior to delivery. Only 2 of 16 (13 per cent) associated with anomalies resolved. In 4 of 5 cases (80 per cent) with moderate hydramnios and no anomalies, the amniotic fluid volume was normal on subsequent ultrasound. No case of moderate polyhydramnios associated with anomalies or maternal conditions nor any case of severe polyhydramnios resolved. There were seven cases of chromosomal abnormalities in this series; all were associated with sonographic findings in addition to the presence of polyhydramnios. On the basis of these data, we doubt the benefit of amniocentesis following the early diagnosis of idiopathic polyhydramnios in the absence of other ultrasound findings.

The Severity of Polyhydramnios, Estimated Fetal Weight and Preterm Delivery Are Independent Risk Factors for the Presenceof Congenital Malformation s

“…For example, duodenal atresia is not usually detected sonographically before 24 weeks of gestation [16]. Our data corroborate previous reports [17,18], i.e. as the severity of polyhydramnios increases so does the likelihood of detecting a congenital malformation.…”

Polyhydramnios and fetal intrauterine growth restriction: ominous combination.

“…Trisomy 18 is the single most common chromosome abnormality in previous studies of polyhydramnios and accounted for 67% (10 of 15) of abnormal karyotypes in the present study. Snijders and colleagues; reported that 95% (19 of 20) fetuses with polyhydramnios and IUGR had abnormal karyotypes, and all but one of these were trisomy 18.…”

Supernumerary marker chromosome 5 diagnosed by M-FISH in a child with congenital heart defect and unusual face

“…The latter was present in the two published cases by D'Amato Sizonenko et al (2002) and in the case reported by Avansino et al (1999). It is well documented that polyhydramnios is associated with various congenital (including chromosomal) abnormalities (Hendricks et al, 1991). The dysmorphic features include macrocephaly, enlarged anterior fontanel, epicanthus with apparent hypertelorism, midfacial hypoplasia with a small nose, micrognathia, short neck, low-set dysplastic ears with preauricular pits, and arachnodactyly.…”