42例胎儿胸腔积液的产前诊断及生后结局

Prenatal diagnosis and pregnancy outcomes in 42 fetuses with pleural effusion

目的 探讨胎儿胸腔积液的产前诊断及妊娠结局。 方法2012年1月至2016年9月，经超声诊断的42例胎儿胸腔积液行染色体核型和/或单核苷酸多态性基因芯片分析、基因检测，对其中7例大量胎儿胸腔积液进行胸腔积液穿刺抽吸术治疗，并对所有胎儿妊娠结局进行随访。 结果胎儿胸腔积液多伴其他超声异常，包括腹腔积液、皮肤水肿、羊水过多、颈后水囊瘤、双手姿势异常、关节挛缩、心律异常及小下颌等。染色体异常在胎儿胸腔积液胎儿中的发生率为26.2%（11/42），其中行染色体核型分析明确异常者10例，包括6例45,X、3例21-三体和1例18-三体；1例胎儿经基因芯片检查发现12q24.21q24.31处存在9.83 Mb单亲二倍体。1例胎儿经基因诊断明确为东南亚缺失型--SEA/--SEA地中海贫血。这12例胎儿父母经遗传咨询后，均于妊娠期终止妊娠。其余30例胎儿中，7例大量胸腔积液且染色体核型分析正常的胎儿行胸腔积液穿刺抽吸术，其中1例合并水肿并进行性加重后终止妊娠，1例胎儿生后因全身状况差及家属放弃治疗后夭折，1例于孕39周＋胸腔积液消失，其余4例胎儿生后经对症支持治疗，积液均在1个月内消失，该5例患儿随访至今健康状况良好；2例大量胸腔积液胎儿未经宫内干预，至出生前胸腔积液完全自发消退，生后随访至今均体健；余21例胎儿均在宫内终止妊娠。 结论 产前诊断对明确胸腔积液胎儿的病因和决定妊娠结局有重要的意义。染色体异常是导致胎儿胸腔积液的一个较常见的遗传学病因，其中以45,X和21-三体最为常见。对于染色体正常的胸腔积液胎儿，若无其他超声异常或全身水肿，可继续观察或予以宫内干预，绝大多数预后良好。其他相关单基因遗传病的基因检测也是明确病因的一个重要方向，可能指导再次妊娠咨询及生育决策。

Objective To investigate the value of prenatal diagnosis in identifying the etiology and predicting the prognosis of fetal pleural effusion （FPE）. Methods Forty-two cases of FPE were recruited in this study from January 2012 to September 2016. Ultrasound scan and genetic tests were performed on all fetuses. Seven fetuses with severe FPE were given pleurocentesis. Pregnancy outcomes of all the fetuses were followed up. Results FPE was commonly accompanied with other abnormalities, such as ascites, hydrops, hydramnion, hygroma colli, abnormal posturing, joint contractures, arrhythmia and micromandible. Chromosomal abnormality was detected in 11 fetuses （26.2%）, of which ten were further confirmed by karyotype analysis, including six with 45,X, three trisomy 21 and one trisomy 18, and one was detected with a 9.83 Mb uniparental disomy （UPD） located at 12q24.21q24.31 by gene chip. One fetus was diagnosed with --SEA/--SEA thalassemia. All of the 12 families decided to terminate the pregnancies after genetic counseling. Among the other 30 fetuses, seven with severe FPE and normal karyotype underwent pleurocentesis. Five of the seven cases were with favorable outcomes, one with progressive hydrops was aborted and one neonate with severe hydrops died after birth. Spontaneous regression of FPE with good outcome was found in two cases. Parents of the other 21 fetuses chose to terminate the pregnancies.Conclusions Prenatal diagnosis is important to identify the etiology and predict the outcome of FPE. Chromosomal abnormality is a relatively common cause of FPE, and 45,X and trisomy 21 are the most common abnormalities. Intrauterine intervention is beneficial for FPE without chromosomal or other definite genetic abnormalities. Genetic test may be of great value for pregnant counseling.