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Related Experiment Video

Updated: May 5, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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Yield of RASopathy Gene Panel in Karyotype-Normal or Microarray-Normal Fetuses With Increased Nuchal Translucency: A

Jennifer E Powel¹, Julie P Barbera¹, Megan B Raymond¹

¹Division of Maternal Fetal Medicine, Department of Obstetrics & Gynecology, Hackensack Meridian Jersey Shore University Medical Center, Neptune, New Jersey; the Department of Obstetrics and Gynecology, Hospital of the University of Pennsylvania, and the Department of Obstetrics and Gynecology and the Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, Pennsylvania; the Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Women and Infants Hospital, Providence, Rhode Island; and the Department of Obstetrics & Gynecology, Maimonides Medical Center, Brooklyn, New York.

|September 26, 2025

Summary

This summary is machine-generated.

RASopathy gene panels detect genetic variants in 8.1% of fetuses with increased nuchal translucency (NT) and normal genetic testing. The yield is higher with additional abnormalities (15.1%) or cystic hygroma (18.4%).

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Published on: October 20, 2019

Area of Science:

Medical Genetics
Prenatal Diagnosis
Fetal Medicine

Background:

Increased nuchal translucency (NT) is a common finding in prenatal screening.
Normal karyotype or chromosomal microarray (CMA) results do not exclude all genetic causes of increased NT.
RASopathies are a group of genetic disorders that can present with increased NT.

Purpose of the Study:

To determine the diagnostic yield of RASopathy gene panels in fetuses with increased NT and normal karyotype or CMA.
To evaluate the association between ultrasound findings and the diagnostic yield of RASopathy gene panels.

Main Methods:

Systematic review of studies using RASopathy gene panels for fetuses with increased NT and normal karyotype/CMA.
Searched multiple databases (PubMed, OVID, SCOPUS, CINAHL, ClinicalTrials.gov) up to January 2025.
Extracted data on diagnostic yield, NT measurements, associated anomalies, and cystic hygroma.

Main Results:

1,800 cases across 14 studies were analyzed.
RASopathy gene panels yielded a diagnostic variant in 8.1% of cases overall.
Diagnostic yield was 3.3% for isolated increased NT, 15.1% for nonisolated increased NT, and 18.4% with cystic hygroma.

Conclusions:

Targeted RASopathy gene panel testing is valuable in fetuses with increased NT and normal karyotype/CMA.
The presence of additional ultrasound abnormalities or cystic hygroma significantly increases the diagnostic yield.
Cardiac abnormalities are the most frequent associated finding in RASopathies detected by gene panels.