Research Unit of Gynecology and Obstetrics, Odense University Hospital, University of Southern Denmark, Odense, Denmark.
OPEN, Odense Patient data Explorative Network, Odense University Hospital, Odense, Denmark.
Acta Obstet Gynecol Scand. 2023 Aug;102(8):1115-1124. doi: 10.1111/aogs.14582. Epub 2023 Jun 3.
To investigate the performance of the second-trimester ultrasound scan regarding ultrasound-detectable congenital malformations in a Danish region. The study sample was population-based, with 6 months of postnatal follow-up. Hospital records and autopsy reports were reviewed in each case to validate the prenatal ultrasound diagnosis.
This population-based cohort study included all fetuses (n = 19.367) alive at the second-trimester scan in four hospitals in a Danish region. The final diagnosis of the malformations was based on hospital records during the 6-month postnatal follow-up. In case of termination or stillbirth, the result from the autopsy report was used to validate the prenatal ultrasound diagnosis.
The detection rate of congenital malformations in the prenatal screening program was 69%, where 18% was detected on the first-trimester scan and 51% on the second-trimester scan. Another 8% was detected in the third trimester. Specificity was 99.9%. The positive predictive value of the screening program was 94.5%, and the negative predictive value was 99.5%. The overall prevalence of malformations was 16.8 per 1000 fetuses, most frequently in the heart and the urinary tract.
This study shows that the national screening program for congenital malformations can detect many severe malformations and is an effective screening test for malformations.
研究丹麦某地区中孕期超声检查对超声检出先天性畸形的性能。该研究样本基于人群，有 6 个月的产后随访。在每个病例中，都对医院记录和尸检报告进行了审查，以验证产前超声诊断。
这项基于人群的队列研究包括丹麦某地区四家医院中存活的所有胎儿（n = 19367）。畸形的最终诊断基于 6 个月产后随访期间的医院记录。如果终止妊娠或死产，则使用尸检报告的结果来验证产前超声诊断。
产前筛查计划中先天性畸形的检出率为 69%，其中 18%在早孕期扫描中检出，51%在中孕期扫描中检出。另有 8%在孕晚期检出。特异性为 99.9%。筛查计划的阳性预测值为 94.5%，阴性预测值为 99.5%。畸形的总体患病率为每 1000 例胎儿中有 16.8 例，最常见于心脏和泌尿道。
本研究表明，先天性畸形的国家筛查计划可以检测到许多严重的畸形，是一种有效的畸形筛查测试。
