目的:评估妊娠11-14周二维超声作为个体胎儿畸形筛查测试的诊断准确性,并确定影响检测的筛查因素。
方法:系统评价和荟萃分析,在PROSPERO(CRD42018111781)开发和注册。MEDLINE,EMBASE,WebofScienceCoreCollection和CochraneLibrary)搜索了评估16种预先指定的筛查诊断准确性的研究,非心脏,先天性异常被认为是感兴趣的早期异常扫描。我们纳入了来自任何医疗保健环境和低风险的前瞻性和回顾性研究,混合风险和未选择的人群。参考标准是在出生后或验尸检查中检测到异常。提取数据以填充2x2表格并进行荟萃分析(随机效应模型),以确定筛查预先指定的异常(单独和作为复合)的诊断准确性。进行二次分析以确定(1)成像协议(2)超声模式(3)出版年份和(4)扫描时超声医师怀疑指数的影响。进行了事后二次分析,以评估从2010年开始的研究绩效。使用诊断准确性研究质量评估(QUADAS-2)对纳入的研究进行偏倚风险和质量评估。
结果:来自5684次引用,202篇论文被确定为合格和审查,结果纳入了526,322例胎儿(52项研究),其中2,399例受到16种异常中的一种或多种影响。在妊娠早期超声检查中,个体异常的检出率不相等,包括严重疾病(98%)的检出率高(>80%),腹裂(96%)和外突(95%)和全前脑(88%);开放性脊柱裂(69%)较低,下尿路梗阻(66%)致命的骨骼发育不良(57%)和肢体减少缺陷(50%),面部裂痕低于50%(43%),多指疝(40%)和先天性膈疝(38)。低(<30%)检出率的条件包括双侧肾发育不全(25%),闭合性脊柱裂(21%),孤立性唇裂(14%)和唇裂(11%)。所有异常的特异性>99%。二次分析表明,随着出版年份的增加,检测有所改善,成像方案的使用对筛查性能有统计学显著影响(p<0.0001).
结论:使用孕早期超声准确检测先天性异常是可行的。在这项研究中,我们确定了单个异常的筛查特征,并表明检测率和假阳性率取决于异常的类型。标准化协议的使用允许最大化诊断性能,这特别提高了脊柱裂检测的筛查性能,面部裂痕和肢体复位缺陷。突出适合诊断的异常类型并确定有利的筛查测试因素可以支持早期妊娠异常筛查计划的开发。本文受版权保护。保留所有权利。
OBJECTIVE: To assess the diagnostic accuracy of two-dimensional ultrasound at 11-14 weeks\' gestation as a screening test for individual fetal anomalies and to identify factors impacting on screening performance.
METHODS: This was a systematic
review and meta-analysis that was developed and registered with PROSPERO (CRD42018111781). MEDLINE, EMBASE, Web of Science Core Collection and the Cochrane Library were searched for studies evaluating the diagnostic accuracy of screening for 16 predefined, non-cardiac, congenital anomalies considered to be of interest to the early anomaly scan. We included prospective and retrospective studies from any healthcare setting conducted in low-risk, mixed-risk and unselected populations. The reference standard was the detection of an anomaly on postnatal or postmortem examination. Data were extracted to populate 2 × 2 tables and a random-effects model was used to determine the diagnostic accuracy of screening for the predefined anomalies (individually and as a composite). Secondary analyses were performed to determine the impact on detection rates of imaging protocol, type of ultrasound modality, publication year and index of sonographer suspicion at the time of scanning. Post-hoc secondary analysis was conducted to assess performance among studies published during or after 2010. Risk of bias assessment and quality assessment were undertaken for included studies using the Quality Assessment of Diagnostic Accuracy Studies-2 tool.
RESULTS: From 5684 citations, 202 papers underwent full-text
review, resulting in the inclusion of 52 studies comprising 527 837 fetuses, of which 2399 were affected by one or more of the 16 predefined anomalies. Individual anomalies were not equally amenable to detection on first-trimester ultrasound: a high (> 80%) detection rate was reported for severe conditions, including acrania (98%), gastroschisis (96%), exomphalos (95%) and holoprosencephaly (88%); the detection rate was lower for open spina bifida (69%), lower urinary tract obstruction (66%), lethal skeletal dysplasias (57%) and limb-reduction defects (50%); and the detection rate was below 50% for facial clefts (43%), polydactyly (40%) and congenital diaphragmatic hernia (38%). Conditions with a low (< 30%) detection rate included bilateral renal agenesis (25%), closed spina bifida (21%), isolated cleft lip (14%) and talipes (11%). Specificity was > 99% for all anomalies. Secondary analysis showed that detection improved with advancing publication year, and that the use of imaging protocols had a statistically significant impact on screening performance (P < 0.0001).
CONCLUSIONS: The accurate detection of congenital anomalies using first-trimester ultrasound is feasible, although detection rates and false-positive rates depend on the type of anomaly. The use of a standardized protocol allows for diagnostic performance to be maximized, particularly for the detection of spina bifida, facial clefts and limb-reduction defects. Highlighting the types of anomalies amenable to diagnosis and determining factors enhancing screening performance can support the development of first-trimester anomaly screening programs. © 2024 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.