OBJECTIVE: The aim of this study was to evaluate pregnancy and postnatal outcomes of fetuses with increased nuchal translucency thickness (NT) and normal karyotype. METHODS: Two hundred seventy five fetuses with increased NT were examined with karyotyping analysis, serial ultrasound scans, echocardiography and postnatal clinical and genetic evaluation at the Fetal Medicine Unit - Department of Obstetrics - São Paulo University. 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 at the anomaly scan, one third of these were major malformations with 35.7% of heart defects. Adverse pregnancy outcome such as miscarriages, intrauterine and neonatal deaths occurred in 10.2% of cases. Of the infants 72.7% had postnatal examination, with 14.8% presenting abnormalities. Chances of having a live and healthy child decreased with increased NT thickness, and were of 37.5% for NT above 4.5mm. CONCLUSION: In cases with increased NT thickness and normal karyotype, the frequency of fetal malformations, especially heart defects, adverse pregnancy outcome and postnatal abnormalities is related to the NT thickness.
OBJECTIVE: The aim of this study was to evaluate pregnancy and postnatal outcomes of fetuses with increased nuchal translucency thickness (NT) and normal karyotype. METHODS: Two hundred seventy five fetuses with increased NT were examined with karyotyping analysis, serial ultrasound scans, echocardiography and postnatal clinical and genetic evaluation at the Fetal Medicine Unit - Department of Obstetrics - São Paulo University. 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 at the anomaly scan, one third of these were major malformations with 35.7% of heart defects. Adverse pregnancy outcome such as miscarriages, intrauterine and neonatal deaths occurred in 10.2% of cases. Of the infants 72.7% had postnatal examination, with 14.8% presenting abnormalities. Chances of having a live and healthy child decreased with increased NT thickness, and were of 37.5% for NT above 4.5mm. CONCLUSION: In cases with increased NT thickness and normal karyotype, the frequency of fetal malformations, especially heart defects, adverse pregnancy outcome and postnatal abnormalities is related to the NT thickness.