RASopathies: A significant cause of polyhydramnios?

Area of Science:

• Medical Genetics
• Prenatal Diagnosis
• Pediatric Medicine

Background:

• Polyhydramnios, excessive amniotic fluid, can indicate underlying fetal genetic abnormalities.
• RASopathies are a group of genetic disorders affecting development.

Purpose of the Study:

• To determine the prevalence of RASopathies in a polyhydramnios cohort.
• To evaluate the association between RASopathies and polyhydramnios characteristics.

Main Methods:

• Retrospective review of 622 pregnancies with polyhydramnios.
• Analysis of 131 cases with postnatal medical genetics evaluation.
• Extraction of genetic testing data, focusing on RASopathies.

Main Results:

• Genetic disorders identified in 48.1% of cases.
• RASopathies diagnosed in 11.5% of polyhydramnios cases.
• RASopathies significantly associated with polyhydramnios severity and timing.

Conclusions:

• Nearly half of polyhydramnios cases evaluated by genetics had an underlying disorder.
• RASopathies are a significant finding in selected polyhydramnios cohorts.
• Ultrasound findings are common in polyhydramnios cases with RASopathies.