Format

Send to

Choose Destination
Am J Obstet Gynecol. 2014 Dec;211(6):675.e1-19. doi: 10.1016/j.ajog.2014.06.025. Epub 2014 Jun 17.

Risk of selected structural abnormalities in infants after increased nuchal translucency measurement.

Author information

1
Genetic Disease Screening Program, California Department of Public Health, Richmond, CA. Electronic address: Rebecca.Baer@cdph.ca.gov.
2
Division of Maternal-Fetal Medicine, Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California, San Francisco, School of Medicine, San Francisco, CA.
3
Department of Pediatrics, Stanford University School of Medicine, Stanford, CA.
4
Genetic Disease Screening Program, California Department of Public Health, Richmond, CA.
5
Genetic Disease Screening Program, California Department of Public Health, Richmond, CA; Department of Epidemiology and Biostatistics, University of California, San Francisco, School of Medicine, San Francisco, CA.

Abstract

OBJECTIVE:

We sought to examine the association between increased first-trimester fetal nuchal translucency (NT) measurement and major noncardiac structural birth defects in euploid infants.

STUDY DESIGN:

Included were 75,899 singleton infants without aneuploidy or critical congenital heart defects born in California in 2009 through 2010 with NT measured between 11-14 weeks of gestation. Logistic binomial regression was employed to estimate relative risks (RRs) and 95% confidence intervals (CIs) for occurrence of birth defects in infants with an increased NT measurement (by percentile at crown-rump length [CRL] and by ≥3.5 mm compared to those with measurements <90th percentile for CRL).

RESULTS:

When considered by CRL adjusted percentile and by measurement ≥3.5 mm, infants with a NT ≥95th percentile were at risk of having ≥1 major structural birth defects (any defect, RR, 1.6; 95% CI, 1.3-1.9; multiple defects, RR, 2.1; 95% CI, 1.3-3.4). Infants with a NT measurement ≥95th percentile were at particularly high risk for pulmonary, gastrointestinal, genitourinary, and musculoskeletal anomalies (RR, 1.6-2.7; 95% CI, 1.1-5.4).

CONCLUSION:

Our findings demonstrate that risks of major pulmonary, gastrointestinal, genitourinary, and musculoskeletal structural birth defects exist for NT measurements ≥95th percentile. The ≥3-fold risks were observed for congenital hydrocephalus; agenesis, hypoplasia, and dysplasia of the lung; atresia and stenosis of the small intestine; osteodystrophies; and diaphragm anomalies.

KEYWORDS:

congenital birth defects; increased nuchal translucency; normal karyotype; prenatal screening

PMID:
24949541
DOI:
10.1016/j.ajog.2014.06.025
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center