Related Experiment Video
Updated: Jul 14, 2026

09:03
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Nuchal translucency and first trimester risk assessment: a systematic review
Celeste Sheppard1, Lawrence D Platt
1Department of Obstetrics and Gynecology, The University of Texas Medical Branch, Galveston, TX, USA. csheppard@hcmfm.com
Ultrasound Quarterly
|June 1, 2007
Summary
First-trimester fetal aneuploidy screening using nuchal translucency (NT) measurement offers high detection rates. Adherence to quality standards and practitioner training are crucial for reliable results in prenatal diagnosis.
Area of Science:
- Prenatal diagnosis
- Maternal-fetal medicine
- Genetics
Background:
- First-trimester risk assessment for fetal aneuploidy is increasingly utilized in the US.
- Nuchal translucency (NT) measurement, combined with maternal serum markers, demonstrates high screening performance.
Purpose of the Study:
- To highlight the effectiveness and validation of first-trimester NT screening for fetal aneuploidies.
- To emphasize the importance of standardized training and quality assurance for reliable NT measurements.
Main Methods:
- Validation of NT measurement in multicenter trials for screening Down syndrome and other aneuploidies.
- Implementation of quality assurance programs, including practitioner credentialing and audits.
Main Results:
- Combined NT measurement and first-trimester serum markers achieve over 80% detection rates for fetal aneuploidy at a 5% screen-positive rate.
- Established criteria and training ensure uniform reliability and high sensitivity in NT screening.
Conclusions:
- Standardized NT measurement and quality assurance are essential for accurate first-trimester aneuploidy risk assessment.
- Credentialing programs like the Nuchal Translucency Quality Review ensure sonographer proficiency.
- Accreditation of clinical sites is recommended to maintain high-quality prenatal care.
