胎儿呼吸系统发育异常相关疾病的产前诊断及预后评估

Prenatal diagnosis and prognosis assessment of fetal respiratory dysplasia related diseases

目的:探讨胎儿呼吸系统发育异常相关疾病的产前诊断及预后评估。方法:分析本院产前诊断中心2015年1月—2017年12月胎儿呼吸系统异常孕妇152例产前诊断及随访资料。结果:在所有资料中,先天性肺囊腺瘤样畸形(CCAM)103例,支气管肺隔离征(BPS)41例,先天性膈疝(CDH)8例。各年均以CCAM居多,CDH逐年增加。CCAM、BPS、CDH3胎儿孕妇接受介入性产前诊断的比例分别为17.5%,7.3%,12.5%,未发现胎儿染色体异常者,有1例羊水芯片结果提示临床意义尚不明确。3类胎儿发育异常引产率分别为8.7%,7.3%和12.5%。CCAM、BPS胎儿出生后健康存活率较高,而CDH胎儿出生后需要手术治疗。结论:应建立系统的胎儿呼吸系统疾病超声检查规范及标准,遗传学咨询体系,新生儿检查及随访系统,以获得更可靠的连续性证据,提高胎儿呼吸系统疾病产前诊断咨询的水平。

Objective:To evaluate the prenatal diagnosis and prognosis of fetal respiratory dysplasia.Methods:125 fetuses with respiratory system dysplasia diagnosed in prenatal diagnosis center of International Peace Maternity & Child Health Hospital during Jan.2015 and Dec.2017 were reviewed.Results:Among these fetuses,there were 103 cases with fetal cystic adenomatoid malformation (CCAM),41 cases with fetal bronchopulmonary sequestration (BPS),and 8 cases with diaphragmatic hernia (CDH).The fetus with CCAM was the most common respiratory system dysplasia,and the number of fetus with CDH was gradually growing in recent years.The proportion of fetus with CCAM,BPS and CDH were 17.5%,7.3% and 12.5%,respectively.One fetus with normal fetal karyotype had a VUS microarray result with unclear clinical significant.The induction rates of women because their fetus with CCAM,BPS and CDH were 8.7%,7.3% and 12.5%,respectively.The healthy survival rate of the fetus with CCAM and BPS was higher,compared to fetus with CDH needed surgical after born.Conclusion:The norms and standards of ultrasound examination for fetal respiratory diseases,genetic counseling system,neonatal examination and follow up system should be established systematically to obtain more reliable continuous evidence for improving the level of prenatal diagnosis and counseling for fetal respiratory diseases.