Objective:The aim of this study was to evaluate prenatal and postnatal outcomes of fetuses with increased nuchal translucency thickness (NT) and normal karyotype. MethOds: Two hundred seventy-five fetuses with increased NT were submitted to karyotyping analysis, serial ultrasound scans, echocardiography and postnatal clinical and genetic evaluation at the Division of Fetal Medicine of the Obstetric Outpatient Clinic of Universidade de São Paulo. Results:The karyotype was abnormal in 14.2% of the cases and normal in 85.8%. In cases with normal karyotype, 24.7% presented structural abnormalities in the second-trimester ultrasound scan, and one third showed major malformations, 35.7% of which consisted of heart defects. Adverse pregnancy outcome such as miscarriages, intrauterine and neonatal deaths occurred in 10.2% of cases. Postnatal follow-up was established for 72.7% of infants, and abnormalities were observed in 14.8% of them. Chances of having a live and healthy infant decreased with increased NT thickness, corresponding to 37.5% for NT equal to or greater than 4.5 mm. cOnclusiOn: In cases with increased NT thickness and normal karyotype, the frequency of fetal malformations, especially heart defects, adverse pregnancy outcomes and postnatal abnormalities is related to NT thickness.

Fetal echocardiography was performed during the third trimester in a normal primigravida. The fetal heart was severely affected with the typical cardiac manifestations of Marfan syndrome. The medical history of the father was investigated and a mild form of the syndrome was diagnosed. The neonate died at 2 months of age of congestive heart failure.