Using fetal nuchal translucency to screen for major congenital cardiac defects at 10-14 weeks of gestation: population based cohort study.
OBJECTIVE
To examine the utility of measuring fetal nuchal translucency thickness in screening for major defects of the heart and great arteries at 10-14 weeks of gestation.


METHODS
Population based cohort study.


METHODS
29 154 singleton pregnancies with chromosomally normal fetuses at 10-14 weeks of gestation.


METHODS
Fetal medicine centre in London.


METHODS
Prevalence of major defects of the heart and great arteries.


RESULTS
Of 50 cases with major defects of the heart and great arteries (prevalence 1.7 per 1000 pregnancies) 28 (56%, 95% confidence interval 42% to 70%) were in the subgroup of 1822 pregnancies with fetal nuchal translucency thicknesses above the 95th centile of the normal range. The positive and negative predictive values for this cut off point of nuchal translucency thickness were 1.5% and 99.9% respectively.


CONCLUSIONS
Measurement of fetal nuchal translucency thickness-traditionally used to identify fetuses at high risk of aneuploidy-at 10-14 weeks of gestation can identify a large proportion of fetuses with major defects of the heart and great arteries.
Hyett
J
J
Harris Birthright Research Centre for Fetal Medicine, Department of Obstetrics and Gynaecology, King's College Hospital Medical School, London SE5 8RX.
Perdu
M
M
Sharland
G
G
Snijders
R
R
Nicolaides
K H
KH
D000293:Adolescent; D000328:Adult; D002869:Chromosome Aberrations; D015331:Cohort Studies; D005260:Female; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging*; D006801:Humans; D008403:Mass Screening / Q000379:methods; D008423:Maternal Age; D008875:Middle Aged; D009333:Neck / Q000000981:diagnostic imaging / Q000196:embryology*; D011247:Pregnancy; D011256:Pregnancy Outcome; D015995:Prevalence; D012189:Retrospective Studies; D012680:Sensitivity and Specificity; D016216:Ultrasonography, Prenatal