The value of nuchal translucency (NT) ultrasonography for fetal malformation screening

Abstract

Background: Early detection of fetal malformations is crucial for timely intervention and management in obstetric care. Existing screening methods may have limitations, prompting the exploration of novel approaches to improve detection accuracy. Aim: This retrospective study explores an efficient fetal malformation screening method, aiming to provide a reference for obstetric examination. Methods: A total of 511 puerperae who underwent standardized ultrasound examinations in our hospital’s first trimester from December 2020 to August 2022 were enrolled. Ultrasound was used to detect the thickness of the nuchal translucency (NT) in all puerperae during prenatal examination. The clinical values of detection indices in maternal prenatal physical examination were analyzed. Results: A total of 511 puerperae were investigated, and 12 malformed fetuses were detected, presenting a fetal malformation rate of 2.35%, including 3 cases of head and neck hydrocele, 2 cases of megacystis, 3 cases of anencephaly, and 4 cases of omphalocele. Among 499 normal fetuses, NT thickness > 3.0 mm accounted for 3.41%, while among the 12 malformed fetuses screened, NT thickness > 3.0 mm accounted for 75.00%, and there was a statistical difference between the two groups (Chi‑square = 124.374, P < 0.05). Using ultrasound for fetal malformation screening revealed that the fetus with NT thickness value above 3.0 mm performed better in ultrasound screening (>3.0: AUC of 0.904; >3.5: AUC of 0.928; >4.0: AUC of 0.944 vs. >2.0: AUC of 0.863; >2.5: AUC of 0.878). Conclusion: The findings underscore the critical clinical significance of NT thickening as a promising ultrasound soft index for screening fetal malformations. Beyond aiding in clinical diagnosis and ostpartum treatment, the potential applications of these findings hold immense practical value. They pave the way for enhanced prenatal and postnatal care practices, emphasizing the translation of research outcomes into tangible benefits for healthcare providers and expectant parents alike.