University of Groningen University Medical Centre Groningen, University of Groningen, Department of Obstetrics and Gynecology, Groningen, Netherlands.
Department of Genetics, EUROCAT Northern Netherlands, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands.
Paediatr Perinat Epidemiol. 2022 Nov;36(6):804-814. doi: 10.1111/ppe.12914. Epub 2022 Jul 12.
Prenatal diagnosis of several major congenital anomalies can be achieved in the first trimester of pregnancy.
This study investigates the timing of diagnosis and pregnancy outcome of foetuses and neonates with selected structural anomalies in the Northern Netherlands over a 10-year period when the prenatal screening programme changed significantly, but no first-trimester anatomical screening was implemented.
We performed a population-based retrospective cohort study with data from the EUROCAT Northern Netherlands database on pregnancies with delivery or termination of pregnancy for fetal anomaly (TOPFA) date between 2010 and 2019. The analysis was restricted to anomalies potentially detectable in the first trimester of pregnancy in at least 50% of cases, based on previously published data. These included: anencephaly, encephalocele, spina bifida, holoprosencephaly, tricuspid/pulmonary valve atresia, hypoplastic left heart, abdominal wall and limb reduction defects, lethal skeletal dysplasia, megacystis, multiple congenital anomalies. The primary outcome was the timing of diagnosis of each structural anomaly. Information on additional investigations, genetic testing and pregnancy outcome (live birth, TOPFA and foetal/neonatal death) was also collected.
A total of 478 foetuses were included; 95.0% (n = 454) of anomalies were detected prenatally and 5.0% (n = 24) postpartum. Among the prenatally detected cases, 31% (n = 141) were diagnosed before 14 weeks of gestation, 65.6% (n = 298) between 14-22 weeks and 3.3% (n = 15) after 22 weeks. Prenatal genetic testing was performed in 80.4% (n = 365) of cases with prenatally diagnosed anomalies, and the results were abnormal in 26% (n = 95). Twenty-one% (n = 102) of pregnancies resulted in live births and 62.8% (n = 300) in TOPFA. Spontaneous death occurred in 15.9% (n = 76) of cases: in-utero (6.1%, n = 29), at delivery (7.7%, n = 37) or in neonatal life (2.1%, n = 10).
Major structural anomalies amenable to early diagnosis in the first trimester of pregnancy are mostly diagnosed during the second trimester in the absence of a regulated first-trimester anatomical screening programme in the Netherlands and are associated with TOPFA and spontaneous death, especially in cases with underlying genetic anomalies.
在妊娠的第一个 trimester 可以实现对几种主要先天性畸形的产前诊断。
本研究调查了在荷兰北部，当产前筛查计划发生重大变化但未实施第一 trimester 解剖筛查时，在 10 年内对选定的结构性异常胎儿和新生儿的诊断时间和妊娠结局。
我们进行了一项基于人群的回顾性队列研究，数据来自 EUROCAT 荷兰北部数据库，该数据库记录了 2010 年至 2019 年因胎儿异常（TOPFA）而分娩或终止妊娠的妊娠。分析仅限于至少 50%的病例在第一个 trimester 可能检测到的异常，基于以前发表的数据。这些包括：无脑畸形、脑膨出、脊柱裂、全前脑、三尖瓣/肺动脉闭锁、左心发育不全、腹壁和肢体减少缺陷、致死性骨骼发育不良、巨膀胱、多发先天性畸形。主要结局是每个结构性异常的诊断时间。还收集了有关其他检查、基因检测和妊娠结局（活产、TOPFA 和胎儿/新生儿死亡）的信息。
共纳入 478 例胎儿；95.0%（n=454）的异常为产前发现，5.0%（n=24）为产后发现。在产前发现的病例中，31%（n=141）在 14 周前诊断，65.6%（n=298）在 14-22 周，3.3%（n=15）在 22 周后。对产前诊断异常的 80.4%（n=365）例进行了产前遗传检测，其中 26%（n=95）的结果异常。21%（n=102）的妊娠导致活产，62.8%（n=300）导致 TOPFA。15.9%（n=76）的病例发生自发性死亡：宫内（6.1%，n=29）、分娩时（7.7%，n=37）或新生儿期（2.1%，n=10）。
在荷兰没有规范的第一 trimester 解剖筛查计划的情况下，大多数可在第一个 trimester 早期诊断的主要结构性异常是在第二个 trimester 诊断的，与 TOPFA 和自发性死亡有关，尤其是在存在潜在遗传异常的情况下。
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