Application of an individualized nomogram in first‐trimester screening for trisomy 21

作者：Yongqing Sun, L. Zhang, Di Dong, Xiaofei Li, J. Wang, Chenghong Yin, Liona C. Poon, Jie Tian, Qingqing Wu · 发表于：Ultrasound in Obstetrics and Gynecology · 年份：2020 · DOI：10.1002/uog.22087 · 被引用次数：29 · 研究领域：Prenatal Screening and Diagnostics、Fetal and Pediatric Neurological Disorders、Preterm Birth and Chorioamnionitis

OBJECTIVES: To develop and validate a nomogram based on fetal nuchal translucency thickness (NT) and ultrasonographic facial markers for screening for trisomy 21 in the first trimester of pregnancy. METHODS: This was a retrospective case-control study using stored two-dimensional midsagittal fetal profile images captured at 11 + 0 to 13 + 6 weeks' gestation in singleton pregnancies. We included images from 302 trisomy-21 pregnancies and 322 euploid pregnancies. Cases were divided into a training set (200 euploid + 200 with trisomy 21) and a validation set (122 euploid + 102 with trisomy 21) at a ratio of approximately 2:1. For each, the maternal age, gestational age, fetal NT and karyotype were noted, and 12 ultrasonographic fetal facial markers were measured. The least absolute shrinkage and selection operator (LASSO) method and multivariable analysis were used to select automatically the discriminative markers. Logistic regression was used to develop a LASSO model, based on the selected markers, to screen for trisomy 21 in the first trimester of pregnancy. Furthermore, 60 of the 624 images were selected randomly as a retest set to evaluate the model's robustness. The predictive performance of screening for trisomy 21 of a model based on fetal NT and maternal age and of the LASSO model was assessed using the area under the receiver-operating-characteristics curve (AUC). A nomogram was developed as an individualized tool to predict patient-specific probability for trisomy 21,...