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Cited by 21Prenatal Screening and DiagnosticsFetal and Pediatric Neurological DisordersCongenital Anomalies and Fetal Surgery

The value of detailed first-trimester ultrasound in the era of noninvasive prenatal testing

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Esteves, Kristyn M., Tugarinov, Nicol, Lechmann, Grace, Abi Habib, Paola, Cagliyan, Erkan, Goetzinger, Katherine R., Turan, Ozhan M., Turan, Sifa·2023·American Journal of Obstetrics and Gynecology
DOI 10.1016/j.ajog.2023.05.031
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Abstract

Background In 2020, the American College of Obstetricians and Gynecologists recommended noninvasive prenatal testing be offered to all patients. However, current societal guidelines in the United States do not universally recommend a detailed first-trimester ultrasound. Objective This study aimed to determine the additional findings identified through first-trimester ultrasound that would have otherwise been missed if noninvasive prenatal testing was used alone as a first-trimester screening method. Study design This was a retrospective cohort study involving 2158 pregnant patients and 2216 fetuses that were seen at a single medical center between January 1, 2020, and December 31, 2022. All those included underwent both noninvasive prenatal testing and detailed first-trimester ultrasound between 11.0 and 13.6 weeks of gestation. Noninvasive prenatal testing results were categorized as low risk or high risk, and first-trimester ultrasound results were categorized as normal or abnormal. Abnormal first-trimester ultrasounds were further classified as first-trimester screening markers (increased nuchal translucency, absent nasal bone, tricuspid regurgitation, and ductus venosus reverse a-wave) or structural defects (the cranium, neck, heart, thorax, abdominal wall, stomach, kidneys, bladder, spine, and extremities). Descriptive statistics were used to report our findings. Results Of 2216 fetuses, 65 (3.0%) had a high-risk noninvasive prenatal testing result, whereas 2151 (97.0%) had a low-risk noninvasive prenatal testing result. Of those with a low-risk noninvasive prenatal testing result, 2035 (94.6%) had a normal first-trimester ultrasound, whereas 116 (5.4%) had at least 1 abnormal finding on first-trimester ultrasound. The most common screening marker detected within the low-risk noninvasive prenatal testing group was absent nasal bone (52/2151 [2.4%]), followed by reversed a-wave of the ductus venosus (30/2151 [1.4%]). The most common structural defect in this group was cardiac abnormality (15/2151 [0.7%]). Overall, 181 fetuses were identified as having "abnormal screening" through either a high-risk noninvasive prenatal testing result (n=65) or through a low-risk noninvasive prenatal testing result but abnormal first-trimester ultrasound (n=116). In summary, the incorporation of first-trimester ultrasound screening identified 116 additional fetuses (5.4%) that required further follow-up and surveillance than noninvasive prenatal testing alone would have identified. Conclusion Detailed first-trimester ultrasound identified more fetuses with a potential abnormality than noninvasive prenatal testing alone. Therefore, first-trimester ultrasound remains a valuable screening method that should be used in combination with noninvasive prenatal testing.

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  • Increased nuchal translucency is the most frequent abnormal finding in the first trimester and may prompt further genetic evaluation with invasive testing.

    “Increased NT is the most frequent abnormal finding in the first trimester and may prompt further genetic evaluation with invasive testing [6].”

    From First-Trimester Ultrasound: A Comparative Review of Guidelines (2026) · cites this paper as [6]

  • Measurement of nuchal translucency along with maternal serum biomarkers or cell-free DNA testing provides a sensitive screening approach for common aneuploidies.

    “Measurement of the nuchal translucency (NT), along with maternal serum biomarkers or cell-free DNA (cfDNA) testing, provides a sensitive screening approach for common aneuploidies.”

    From First-Trimester Ultrasound: A Comparative Review of Guidelines (2026) · cites this paper as [6]

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Authors
Esteves, K. M., Tugarinov, N., Lechmann, G., Abi Habib, P., Cagliyan, E., Goetzinger, K. R., Turan, O. M., & Turan, S.
Affiliations
University of Maryland Medical Center (US)
ORCID
Venue
American Journal of Obstetrics and Gynecology
Publisher
Elsevier BV
Published
2023-09
Volume
229
Issue
3
Pages
326.e1-326.e6
ISSN
0002-9378 (ISSN-L)
DOI
10.1016/j.ajog.2023.05.031
OpenAlex
W4379162793
Cited by
20
References
19
Citations by year
2026: 5 · 2025: 9 · 2024: 6
FWCI
7.39
Type
journal article
Language
en
Open access
Licence
Locations
  • American Journal of Obstetrics and Gynecology (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
  • Health Sciences › Medicine › Surgery › Congenital Anomalies and Fetal Surgery
Keywords
non-invasive prenatal testing, prenatal screening, nuchal translucency, tricuspid regurgitation, fetal structural anomalies, cardiac anomalies
MeSH terms
Noninvasive Prenatal Testing, Female, Humans, Pregnancy, Pregnancy Trimester, First, Retrospective Studies, Risk Factors, Ultrasonography, Prenatal, Nuchal Translucency Measurement

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