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Genetic implications of idiopathic hydramnios
Insights
Idiopathic hydramnios in pregnancy, even without identifiable causes, carries a high risk. Fetal chromosomal analysis is recommended for pregnancies with idiopathic hydramnios to detect potential genetic disorders.
Area of Science:
- Perinatal medicine
- Fetal medicine
- Medical genetics
Background:
- Antenatal diagnosis of hydramnios necessitates identifying associated maternal or fetal conditions.
- Idiomatic hydramnios, even without an identified cause, is linked to significant perinatal mortality.
- The association between idiopathic hydramnios and specific chromosomal abnormalities requires further definition.
Purpose of the Study:
- To investigate the association between idiopathic hydramnios and chromosomal disorders.
- To determine the frequency of undiagnosed fetal anomalies in pregnancies with idiopathic hydramnios.
Main Methods:
- A retrospective review of 99 pregnancies complicated by hydramnios with complete delivery data.
- Analysis of sonographic evaluations and delivery information for cases of idiopathic hydramnios.
Main Results:
- Fifty-nine pregnancies were diagnosed with idiopathic hydramnios, with normal sonographic findings apart from hydramnios.
- Delivery revealed one infant with trisomy 18 and eight infants with previously undetected structural anomalies.
- Twenty-five percent of undiagnosed malformations were associated with trisomy 21.
Conclusions:
- Fetal chromosomal analysis should be considered in the evaluation of pregnancies with idiopathic hydramnios.
- Idiopathic hydramnios may be associated with significant chromosomal and structural abnormalities.
- Early detection of fetal genetic disorders can inform perinatal management.
Abstract:
The antenatal diagnosis of hydramnios requires a careful search for associated underlying maternal or fetal conditions. Even in pregnancies associated with idiopathic hydramnios in which no underlying condition can be identified, a high perinatal mortality rate exists. Although trisomy 18 has been seen in pregnancies with hydramnios and growth retardation, the association with specific chromosomal disorders and idiopathic hydramnios has not been well defined. A review of pregnancies complicated by hydramnios was undertaken; 99 cases with complete pregnancy and delivery information were identified. Fifty-nine pregnancies were complicated by idiopathic hydramnios, and except for the hydramnios, sonographic evaluation was normal. Delivery information revealed one infant with trisomy 18 and eight infants with structural anomalies not appreciated antenatally. Of the undiagnosed malformations, 25% are frequently associated with trisomy 21. We recommend fetal chromosomal analysis as an adjunct to the evaluation of pregnancies complicated by idiopathic hydramnios.