Department of Obstetrics and Gynecology, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey.
Pediatric Cardiology Division, Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey.
J Obstet Gynaecol. 2022 Jul;42(5):1079-1084. doi: 10.1080/01443615.2021.2000944. Epub 2022 Jan 13.
We aimed to assess the types of prenatally diagnosed congenital heart disease (CHD) and their association with structural and chromosomal abnormalities and to evaluate the perinatal outcomes according to the type of the heart defect. We retrospectively reviewed 377 pregnancies with prenatally diagnosed CHD. The main outcome measure was to evaluate the pregnancy outcomes of CHD according to the type of the heart defect and associated structural or chromosomal abnormalities. Of 377 foetuses with major structural CHD, 214 (56.8%) were isolated, 49 (13%) had additional cardiac anomalies, 58 (15.4%) had extracardiac malformations with normal karyotype and 56 (14.9%) had chromosomal abnormalities. The most common chromosomal abnormality was trisomy 21 (55.4%). Prenatal detection of CHD allows early workup to identify chromosomal abnormalities and detailed anatomic evaluation of extracardiac malformations. Prognostication of each heart defect at diagnosis and facilitating patients with isolated surgically correctable CHD for targeted postnatal care is essential.IMPACT STATEMENT CHD is the most common structural anomaly and is strongly associated with chromosomal anomalies and genetic syndromes. Survival of the prenatally diagnosed CHD depends on the type and severity of the condition and coexisting extracardiac structural or chromosomal abnormalities. Prenatal detection of CHD allows early workup to identify chromosomal abnormalities, detailed anatomic evaluation of extracardiac malformations and time to refer the parents to tertiary cardiac care centres and prepare for planned delivery, as well as to establish an appropriate perinatal and postnatal therapeutic plan.
我们旨在评估产前诊断出的先天性心脏病(CHD)的类型及其与结构和染色体异常的关系,并根据心脏缺陷的类型评估围产期结局。我们回顾性分析了 377 例产前诊断为 CHD 的妊娠。主要观察指标是根据心脏缺陷的类型和相关的结构或染色体异常评估 CHD 的妊娠结局。在 377 例主要结构 CHD 的胎儿中,214 例(56.8%)为孤立性,49 例(13%)有其他心脏异常,58 例(15.4%)有染色体正常的心脏外畸形,56 例(14.9%)有染色体异常。最常见的染色体异常是 21 三体(55.4%)。CHD 的产前检测可早期进行检查以识别染色体异常,并对心脏外畸形进行详细的解剖评估。在诊断时对每种心脏缺陷进行预后判断,并为孤立性可手术矫正 CHD 的患者提供针对性的新生儿期护理,这是至关重要的。
意义陈述:CHD 是最常见的结构异常,与染色体异常和遗传综合征密切相关。产前诊断出的 CHD 的存活率取决于病情的类型和严重程度以及是否存在心脏外结构或染色体异常。CHD 的产前检测可早期进行检查以识别染色体异常,对心脏外畸形进行详细的解剖评估,为将父母转介至三级心脏护理中心并为计划分娩做好准备以及制定适当的围产期和新生儿期治疗计划提供时间。