Ultrasound screening for fetal anomalies in a single center: diagnostic performances twenty years after the Eurofetus Study

To establish the accuracy of ultrasound in detecting fetal anomalies looking at the concordance between prenatal and postnatal diagnosis. Retrospective analysis of concordance between prenatal and postnatal/autoptic diagnosis of fetuses with congenital abnormalities. Data are from a single center (Policlinico di Modena); all fetuses included were born between 2017 and 2018 and with a follow-up of at least 6 months. We included all deliveries (including perinatal deaths) and termination of pregnancy (TOP) for fetal indication. We calculated sensibility, sensitivity, Positive and Negative Likelihood Ratio, positive and negative predictive value of ultrasound. During the study period 5920 deliveries, including perinatal deaths, and 28 TOP for fetal indication were registered at our center. The prevalence of congenital malformations was 2.6% (153/5920). At least one ultrasound was performed in our center in 1250 women delivering in our unit. All 28 TOP had the anomaly scan performed in our center. Among the total 1278 women scanned in our unit, there were 128 (10%) suspicious scans. In 5/128 (3.9%) cases we diagnosed a false alarm; in 8/128 (6.2%) cases an evolutive malformation with in-utero regression. The prenatal diagnosis was confirmed in 77 (60.2%) cases at birth and in 28/128 (21.9%) at postmortem analysis while there were 10/128 false positive (7.8%). Among the 153 congenital malformations diagnosed at birth, the anomaly scan was performed in our Prenatal Medicine Unit in 92 (60.1%) fetuses. Among these, there were 15 false negatives (9.8%) while in 77/92 (83.7%) the malformation at birth agreed with the sonographic diagnosis. Sensitivity and specificity of ultrasound were 87.5% (IC95 80.2–92.8%) and 99.1% (IC95 98.4–99.6%) respectively with a Positive Likelihood Ratio and Negative Likelihood Ratio of 101.3 (IC95 54.5–188.5) and 0.13 (IC95 0.08–0.2); Positive Predictive Value and Negative Predictive Value were 91.3% (IC95 85–95.1%) and 98.7(IC95 98–99.2%). Anomaly scan in pregnancy allows the diagnosis of congenital malformations with a sensibility of 87.5% and specificity of 99.1%. The main limitations of this study are its retrospective design and that it was conducted in a single referral center.

本研究旨在明确超声检测胎儿异常的准确性，聚焦产前与产后诊断的一致性。本研究为回顾性分析，针对先天性异常胎儿的产前、产后/尸检诊断一致性展开研究。数据来源于单一中心（摩德纳综合医院，Policlinico di Modena）；纳入研究的所有胎儿均于2017至2018年间分娩，且随访时长至少6个月。本研究纳入所有分娩病例（含围产期死亡）以及因胎儿指征实施的终止妊娠（Termination of Pregnancy, TOP）病例。我们计算了超声检查的特异度、灵敏度、阳性似然比、阴性似然比、阳性预测值与阴性预测值。研究期间，本中心共登记5920例分娩（含围产期死亡）以及28例因胎儿指征终止妊娠的病例。先天性畸形患病率为2.6%（153/5920）。在本中心分娩的1250名孕妇中，均接受了至少一次超声检查。全部28例终止妊娠病例均在本中心完成了异常超声筛查（anomaly scan）。在本中心接受超声检查的1278名孕妇中，有128例（10%）超声结果可疑。其中5例（3.9%）为假阳性警报；8例（6.2%）为可在宫内自行消退的进展性畸形。77例（60.2%）病例的产前诊断在分娩时得到确认，28例（21.9%）经尸检分析确认，另有10例（7.8%）为假阳性结果。在分娩时确诊的153例先天性畸形中，有92例（60.1%）胎儿在本中心产前医学科完成了异常超声筛查。其中15例为假阴性（9.8%），剩余77/92例（83.7%）的出生时畸形与超声诊断相符。超声检查的灵敏度与特异度分别为87.5%（95%置信区间80.2–92.8%）与99.1%（95%置信区间98.4–99.6%），阳性似然比与阴性似然比分别为101.3（95%置信区间54.5–188.5）与0.13（95%置信区间0.08–0.2）；阳性预测值与阴性预测值分别为91.3%（95%置信区间85–95.1%）与98.7%（95%置信区间98–99.2%）。孕期异常超声筛查可实现先天性畸形的诊断，其灵敏度为87.5%，特异度为99.1%。本研究的主要局限性为回顾性研究设计，且仅在单一转诊中心开展。