Department of Obstetrics and Gynecology, Baylor College of Medicine and Texas Children's Fetal Center, Houston, Texas, USA.
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Prenat Diagn. 2024 Oct;44(11):1296-1303. doi: 10.1002/pd.6657. Epub 2024 Sep 5.
Fetal 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.
This 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.
Among 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.
Pregnancies 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.
胎儿胸腔积液常与潜在的遗传病因相关；然而，描述遗传异常发生率的数据有限。我们评估了原发性单侧和双侧胎儿胸腔积液妊娠中遗传异常的发生率。
这是一项回顾性队列研究，纳入了 2010 年至 2022 年期间在我们中心因产前诊断为原发性胎儿胸腔积液而接受评估的所有患者。所有具有单胎妊娠和诊断性遗传检测的患者均被纳入研究。患者分为两组：初始诊断为单侧或双侧胸腔积液。评估了遗传诊断、胎儿干预和妊娠结局。
在 229 例胎儿胸腔积液中，有 30 例符合纳入标准。14/30 例（47%）为单侧胸腔积液，16/30 例（53%）为双侧胸腔积液。7/14 例（50%）单侧胸腔积液和 2/14 例（14%）双侧胸腔积液存在遗传异常（p=0.046）。双侧胸腔积液胎儿干预（胸羊水分流术）率较高（69%比 14%；p=0.004），分娩更早（33 周比 36 周，p=0.002）。双侧胸腔积液发生呼吸窘迫综合征和新生儿死亡的风险较高（p=0.03 和 0.04）。
原发性胎儿胸腔积液妊娠遗传异常发生率较高。尽管双侧胎儿胸腔积液围产期结局较差，但单侧胎儿胸腔积液的遗传诊断率较高，单侧和双侧胎儿胸腔积液均需要全面的产前遗传检测。
