Evaluation of nuchal translucency as a sonographic marker for screening congenital heart defects in high risk cases

Abstract

Introduction: Congenital heart defects (CHDs) are commonest structural birth defects and leading cause of infant morbidity & mortality. Present study aims to evaluate nuchal translucency (NT) as a sonographic marker for screening CHDs.Methodology: 142 high risk mothers for CHDs, who attended antenatal clinic of hospital between July 2014 to June 2016 underwent NT scan between 10-14 weeks.Results: Heart defects were diagnosed in six newborns (2 hypoplastic left heart syndrome, 1 tricuspid atresia, 2 ventricular septal defect, 1 atrial septal defect). For major cardiac anomalies sensitivity of NT scan was 66.7% & specificity 88.4% at 95th centile cut-off (LR+5.75 & LR-0.376), and at 99th centile cut off sensitivity remained same but it was 99.2% specific (LR +83.3, LR- 0.335). NT scan had poor screening potential for right heart lesions.Conclusion: Increased nuchal translucency thickness was associated with higher risk of major congenital heart defects in chromosomally normal pregnancies.