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Poster Session 3

Category: Ultrasound/Imaging

Poster Session 3

(792) Elevated nuchal translucency > 95%ile and risk of fetal structural abnormalities after low risk NIPT

Thursday, February 12, 2026

10:30 AM - 12:00 PM

Submitting Author and Presenting Author(s)

Genevieve Mazza, MD

Fellow Physician
UC Irvine Medical Center
Orange, California, United States

Coauthor(s)

Ellie Marlor, BA

UC Irvine Medical Center
Orange, California, United States
FA

Femitan Ajayi, BA

UC Irvine Medical Center
Orange, California, United States
JC

Jenny Chang, MPH

University of California, Irvine
Irvine, California, United States
JS

Jonathan Steller, MD

MFM Physician
UC Irvine Medical Center
Orange, California, United States

Objective:
Ultrasound of the fetal nuchal translucency (NT) and maternal serum noninvasive prenatal testing (NIPT) are key components of first trimester genetic screening. While an elevated NT increases the risk for major fetal structural anomalies, genetic defects, and fetal loss, there is no consensus on an NT threshold that should trigger further evaluation, particularly after low risk NIPT. Recent practice patterns are de-emphasizing the NT in favor of NIPT alone. The purpose of this study is to evaluate the utility of NT in the setting of low-risk NIPT to prognosticate the risk for fetal structural anomalies in patients with an NT above the 95^th and 99^th%iles.

Study Design:
This was a retrospective cohort study of patients who received a first trimester NT ultrasound at our tertiary care center between 1/2021-12/2024. Those with an NT greater than the 95^th percentile and a low risk NIPT were included. The cohort was divided into two groups: NT between 95-98^th%ile and NT at or above the 99^th %ile to striate risk. Variables were compared using chi-square, Fisher's exact, or Student’s T-tests as appropriate.

Results:
96 subjects (54 with NT 95-98%ile, 42 with NT > 99%ile) met inclusion criteria. There were no significant differences in baseline characteristics between groups. 26% of the entire cohort had > 1 abnormal finding on detailed anatomy ultrasound (16.7% of those with an NT between 95-98%ile, 38.1% of those with an NT > 99%ile; p=0.007). Furthermore, 7.3% of the entire cohort had an abnormal fetal echocardiogram (1.9% of those with NT 95-98%, 14.3% of those with NT > 99%; p = .0006).

Conclusion:
In the setting of low-risk NIPT, an elevated NT > 95%ile was associated with a 26% risk of abnormal anatomic survey and 7.3% risk of abnormal fetal echocardiogram. These rates are even higher for patients with an NT > 99%ile. The high overall rates of abnormalities in this cohort emphasizes the importance of performing both NT ultrasound and NIPT to empower counseling and patient-centered decision-making regarding further work-up and management of early pregnancy.