Outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency in the first trimester.

OBJECTIVES: To study the outcome of chromosomally normal pregnancies with increased nuchal translucency at the 10-14-week scan.
DESIGN: Retrospective study of 1320 chromosomally normal singleton pregnancies with nuchal translucency of > or = 3.5 mm. In addition to fetal karyotyping these patients were managed with follow-up scans at 14-16 and 20-22 weeks, specialist fetal echocardiography and in selected cases by infection screening and further genetic testing.
RESULTS: In the 1320 pregnancies there were 68 (5.15%) spontaneous abortions or intrauterine deaths, 18 (1.36%) neonatal and infant deaths and 154 (11.67%) terminations of pregnancy. In the 1080 (81.82%) survivors, 60 (5.56%) had abnormalities requiring medical or surgical treatment or leading to mental handicap. The chance of a livebirth with no defects in the group with nuchal translucency of 3.5-4.4 mm was 86%, for those with translucency of 4.5-5.4 mm it was 77%, for those with translucency of 5.5-6.4 mm it was 67%, and for those with translucency of > or = 6.5 mm it was 31%.
CONCLUSIONS: Increased fetal nuchal translucency is associated with chromosomal abnormalities, many fetal defects and genetic syndromes. In the majority of cases a series of antenatal investigations, including fetal karyotyping, detailed scans, fetal echocardiography, as well as genetic testing and infection screening, that can be completed by 20 weeks of gestation would distinguish between the pregnancies destined to result in adverse outcome and those leading to the delivery of infants without major defects.