Department of Obstetrics and Gynaecology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.
Fetal Diagn Ther. 2023;50(4):248-258. doi: 10.1159/000531583. Epub 2023 Jun 17.
Early detection of isolated severe congenital heart defects (CHDs) allows extra time for chromosomal analysis and informed decision making, resulting in improved perinatal management and patient satisfaction. Therefore, the aim of this study was to assess the value of an additional first-trimester screening scan compared to only a second-trimester scan in fetuses diagnosed with isolated severe CHDs. Prenatal detection rate, time of prenatal diagnosis, and pregnancy outcome were evaluated in the Netherlands after implementation of a national screening program.
We performed a retrospective geographical cohort study and included 264 pre- and postnatally diagnosed isolated severe CHD cases between January 1, 2007, and December 31, 2015, in the Amsterdam region. Severe CHD was defined as potentially life threatening if intervention within the first year of life was required. Two groups were defined: those with a first- and second-trimester anomaly scan (group 1) and those with a second-trimester anomaly scan only (group 2). A first-trimester scan was defined as a scan between 11 + 0 and 13 + 6 weeks of gestation.
Overall, the prenatal detection rate for isolated severe CHDs was 65%; 63% were detected before 24 weeks of gestation (97% of all prenatally detected CHDs). Prenatal detection rate was 70.2% in the group with a first- and second-trimester scan (group 1) and 58% in the group with a second-trimester scan only (group 2) (p < 0.05). Median gestational age at detection was 19 + 6 (interquartile range [IQR] 15 + 4 - 20 + 5) in group 1 versus 20 + 3 (IQR: 20 + 0 - 21 + 1) in group 2 (p < 0.001). In group 1, 22% were diagnosed before 18 weeks of gestation. Termination of pregnancy rate in group 1 and group 2 were 48% and 27%, respectively (p < 0.01). Median gestational age at termination did not differ between the two groups.
Prenatal detection rate of isolated severe CHDs and termination of pregnancy rate was higher in the group with both a first- and second-trimester scan. We found no differences between timing of terminations. The additional time after diagnosis allows for additional genetic testing and optimal counseling of expectant parents regarding prognosis and perinatal management, so that well-informed decisions can be made.
早期发现孤立性严重先天性心脏病（CHD）可额外获得染色体分析和知情决策的时间，从而改善围产期管理和患者满意度。因此，本研究旨在评估与仅进行中孕期超声检查相比，在诊断为孤立性严重 CHD 的胎儿中增加早孕期筛查超声检查的价值。在荷兰实施国家筛查计划后，评估了产前检出率、产前诊断时间和妊娠结局。
我们进行了一项回顾性地理队列研究，纳入了 2007 年 1 月 1 日至 2015 年 12 月 31 日期间阿姆斯特丹地区 264 例产前和产后诊断的孤立性严重 CHD 病例。严重 CHD 定义为如果需要在生命的第一年进行干预，则可能具有生命威胁。将病例分为两组：早、中孕期联合超声检查组（组 1）和仅中孕期超声检查组（组 2）。早孕期超声检查定义为孕 11+0 至 13+6 周的检查。
孤立性严重 CHD 的产前检出率总体为 65%；63%在 24 孕周前检出（所有产前检出 CHD 的 97%）。早、中孕期联合超声检查组的产前检出率为 70.2%（组 1），仅中孕期超声检查组为 58%（组 2）（p＜0.05）。组 1 的中位检出孕周为 19+6（四分位距 [IQR] 15+4-20+5），组 2 为 20+3（IQR：20+0-21+1）（p＜0.001）。组 1 中 22%在 18 孕周前诊断。组 1 和组 2 的终止妊娠率分别为 48%和 27%（p＜0.01）。两组终止妊娠的中位孕周无差异。
早、中孕期联合超声检查组孤立性严重 CHD 的产前检出率和终止妊娠率更高。我们发现两组终止妊娠的时间无差异。诊断后额外的时间可进行额外的基因检测，并为孕妇及其家属提供最佳的预后和围产期管理咨询，以便做出知情决策。
