Risk of Genetic Abnormality in Fetuses With Unilateral Versus Bilateral Pleural Effusions

Author:

Burnett Brian1ORCID,Parobek Christian12ORCID,Shanahan Matthew12ORCID,Mitts Matthew1,Albrecht Kelly1,Munoz Jessian1ORCID,Buskmiller Cara1ORCID,Nassr Ahmed1ORCID,Sanz Cortes Magdalena1ORCID,Belfort Michael1,Donepudi Roopali1

Affiliation:

1. Department of Obstetrics and Gynecology Baylor College of Medicine and Texas Children's Fetal Center Houston Texas USA

2. Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA

Abstract

ABSTRACTObjectiveFetal pleural effusions are often associated with underlying genetic etiologies; however, data describing the incidence of genetic abnormalities are limited. We evaluated the rate of genetic abnormalities in pregnancies affected by primary unilateral and bilateral fetal pleural effusion.MethodsThis study is a retrospective cohort study of all patients evaluated at our center with a prenatal diagnosis of primary fetal pleural effusion from 2010 to 2022. All patients with a singleton pregnancy and diagnostic genetic testing were included. Patients were separated into two groups: those with unilateral or bilateral effusions at initial diagnosis. Genetic diagnoses, fetal interventions, and pregnancy outcomes were evaluated.ResultsAmong 229 cases of fetal pleural effusion, 30 met the inclusion criteria. Unilateral effusion was seen in 14/30 cases (47%) and bilateral effusion in 16/30 cases (53%). Genetic abnormalities were present in 7/14 (50%) unilateral and 2/14 (14%) bilateral effusions (p = 0.046). Cases of bilateral effusion had higher rates of fetal intervention with thoracoamniotic shunt (69% vs. 14%; p = 0.004) and earlier delivery (33 vs. 36 weeks, p = 0.002). Bilateral effusions were found to have higher rates of respiratory distress syndrome and neonatal death (p = 0.03 and 0.04), respectively.ConclusionPregnancies affected by primary fetal pleural effusion have a high rate of genetic abnormalities. Although bilateral fetal pleural effusions have worse perinatal outcomes, unilateral fetal pleural effusions have a high rate of genetic diagnosis and both unilateral and bilateral fetal pleural effusions warrant comprehensive prenatal genetic testing.

Publisher

Wiley

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