Related Experiment Video
Updated: Apr 27, 2026
10:02
State of the Art Cranial Ultrasound Imaging in Neonates
Published on: February 2, 2015
25.8K
Risk of selected structural abnormalities in infants after increased nuchal translucency measurement
Rebecca J Baer1, Mary E Norton2, Gary M Shaw3
1Genetic Disease Screening Program, California Department of Public Health, Richmond, CA.
American Journal of Obstetrics and Gynecology
|June 21, 2014
Summary
Increased first-trimester nuchal translucency (NT) measurements are linked to major birth defects in healthy infants. Specifically, NT measurements at or above the 95th percentile indicate a higher risk for pulmonary, gastrointestinal, genitourinary, and musculoskeletal anomalies.
Area of Science:
- Prenatal diagnosis
- Fetal medicine
- Birth defect research
Background:
- First-trimester nuchal translucency (NT) measurement is a key screening tool.
- Understanding NT's association with noncardiac defects in euploid fetuses is crucial.
Purpose of the Study:
- To investigate the link between elevated first-trimester NT measurements and major noncardiac structural birth defects.
- To assess risks in infants without aneuploidy or congenital heart defects.
Main Methods:
- Analysis of 75,899 singleton infants born in California (2009-2010).
- NT measurements taken between 11-14 weeks gestation.
- Logistic binomial regression used to calculate relative risks (RRs) for birth defects based on NT percentiles and absolute measurements (≥3.5 mm).
Main Results:
- Infants with NT ≥95th percentile showed increased risk for major structural birth defects (any defect RR 1.6; multiple defects RR 2.1).
- Elevated NT was associated with higher risks for pulmonary, gastrointestinal, genitourinary, and musculoskeletal anomalies (RR 1.6-2.7).
Conclusions:
- First-trimester NT measurements ≥95th percentile are associated with increased risks of major structural defects.
- Specific risks identified for congenital hydrocephalus, lung anomalies, intestinal atresia/stenosis, osteodystrophies, and diaphragm anomalies.
Related Concept Videos
01:07Teratogenicity
4.2K
The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
4.2K
01:30Radiological Investigation I: X-ray and CT
1.7K
Radiological investigations, including X-rays and computed tomography (CT) scans, are critical for diagnosing and evaluating various medical conditions. These imaging techniques provide valuable insights into the body's internal structures, aiding in the detection of abnormalities, assessment of disease progression, and development of treatment strategies. This article delves into two primary radiological investigations, chest X-rays and CT scans, outlining their purpose, procedures, and...
1.7K