Cardiac defects in chromosomally normal fetuses with increased nuchal translucency at 10-14 weeks of gestation.
OBJECTIVE
To examine the prevalence, distribution and spectrum of cardiac defects in chromosomally normal fetuses with increased nuchal translucency thickness.


METHODS
During a 4-year period, targeted fetal echocardiography was used in 353 chromosomally normal fetuses with increased nuchal translucency thickness at 10-14 weeks' gestation. The cardiac scan was performed at 18-22 weeks. In the last 138 cases enrolled, an additional scan at 12-16 weeks was carried out. The follow-up included the findings at necropsy or in the pediatric examination. A complete follow-up was achieved in 97%.


RESULTS
Cardiac defects were present in 32 (9.1%) cases, increasing from 5.3% in those with a nuchal translucency thickness of > or = 95th centile (3.9 mm) to 24% when thickness > or = 6 mm (p < 0.001). In 31 cases (97%), the cardiac defect was diagnosed antenatally; in 24 cases (77%) this diagnosis was confirmed later. In the remaining seven cases, the autopsy examination was not available. A wide range of cardiac defects was observed, with the most common being atrioventricular septal defect and tricuspid atresia.


CONCLUSIONS
Euploid fetuses with increased nuchal translucency thickness have a significantly increased risk of cardiac defects. This is a marker of different types of heart anomalies and constitutes an additional indication for targeted fetal echocardiography. Most of the cardiac defects can be detected by fetal echocardiography.
Galindo
A
A
Ultrasound and Fetal Physiopathology Unit, Department of Obstetrics and Gynecology, Hospital Universitario 12 de Octubre, Madrid, Spain.
Comas
C
C
Martínez
J M
JM
Gutiérrez-Larraya
F
F
Carrera
J M
JM
Puerto
B
B
Borrell
A
A
Mortera
C
C
de la Fuente
P
P
D000293:Adolescent; D000328:Adult; D018376:Cardiovascular Abnormalities / Q000000981:diagnostic imaging* / Q000453:epidemiology* / Q000209:etiology / Q000235:genetics; D002877:Chromosomes, Human; D004452:Echocardiography; D005260:Female; D006343:Heart Septal Defects / Q000000981:diagnostic imaging / Q000453:epidemiology; D006801:Humans; D009333:Neck / Q000000981:diagnostic imaging* / Q000196:embryology; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D015995:Prevalence; D013030:Spain / Q000453:epidemiology; D018785:Tricuspid Atresia / Q000000981:diagnostic imaging / Q000453:epidemiology; D016216:Ultrasonography, Prenatal