Genetic implications of idiopathic hydramnios

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.