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Cited by 20Fetal and Pediatric Neurological DisordersPrenatal Screening and DiagnosticsSpinal Dysraphism and Malformations

First Trimester Ultrasound Detection of Fetal Central Nervous System Anomalies

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Ungureanu, Delia Roxana, Drăgușin, Roxana Cristina, Căpitănescu, Răzvan Grigoraș, Zorilă, Lucian, Ofițeru, Anca Maria Istrate, Marinaș, Cristian, Pătru, Ciprian Laurențiu, Comănescu, Alexandru Cristian +9 more·2023·Brain Sciences
DOI 10.3390/brainsci13010118PMC PMC9857041
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Abstract

Objective: To evaluate the potential of the first-trimester ultrasound (US) features for the detection of central nervous system (CNS) anomalies. Methods/Methodology: This is a prospective one-center three-year study. Unselected singleton pregnant women were examined using an extended first-trimester anomaly scan (FTAS) that included the CNS assessment: the calvaria shape, the septum (falx cerebri), the aspect of the lateral ventricles, the presence of the third ventricle and aqueduct of Sylvius (AS) and the posterior brain morphometry: the fourth ventricle, namely intracranial translucency (IT), brain stem/brain stem–occipital bone ratio (BS/BSOB) and cisterna magna (CM). The spine and underlying skin were also evaluated. The cases were also followed during the second and third trimesters of pregnancy and at delivery. FTAS efficiency to detect major CNS abnormalities was calculated. Results: We detected 17 cases with CNS major abnormalities in a population of 1943 first-trimester (FT) fetuses, including spina bifida with myelomeningocele, exencephaly-anencephaly, holoprosencephaly, hydrocephaly, cephalocele and Dandy-Walker malformation. The CNS features in the abnormal group are presented. In the second trimester (ST), we further diagnosed cases of corpus callosum agenesis, cerebellar hypoplasia, vein of Galen aneurysm and fetal infection features (ventriculomegaly, intraventricular bands, intraventricular cyst and hyperechoic foci), all declared normal at the FTAS. During the third trimester (TT) scan we identified a massive fetal cerebral haemorrhage absent at previous investigations. We report a detection rate of 72.7% of fetal brain anomalies in the FT using the proposed CNS parameters. The sensitivity of the examination protocol was 72.7%, and the specificity was 100%. Conclusion: A detailed FT CNS scan is feasible and efficient. The majority of cases of major CNS abnormalities can be detected early in pregnancy. The visualization rates of the CNS parameters in the FT are great with short, if any, additional investigation time. FT cerebral disorders such as haemorrhage or infections were missed in the FT even when an extended evaluation protocol was used.

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  • When using a standardized protocol, the detection of central nervous system anomalies presented with a specificity of 72.7% and a sensitivity of 100%.

    “This is also highlighted by a study that showed that when using a standardized protocol, the detection of central nervous system anomalies presented with a specificity of 72.7% and a sensitivity of 100% [36], with several anatomic protocols proposed accordingly [37].”

    From First-Trimester Ultrasound: A Comparative Review of Guidelines (2026) · cites this paper as [36]

    The Results section reports the opposite assignment of the two figures: sensitivity was 72.7% and specificity was 100% for the proposed first-trimester CNS examination protocol. The citing sentence reverses them. (LLM, conf=0.90)

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Authors
Ungureanu, D. R., Drăgușin, R. C., Căpitănescu, R. G., Zorilă, L., Ofițeru, A. M. I., Marinaș, C., Pătru, C. L., Comănescu, A. C., Comănescu, M. C., Sîrbu, O. C., Vrabie, M.-S., Dijmărescu, L. A., Streață, I., Burada, F., Ioana, M., Drăgoescu, A. N., & Iliescu, D. G.
Affiliations
  • University of Medicine and Pharmacy of Craiova (RO)
  • Department of Obstetrics and Gynecology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania
  • Department of Obstetrics and Gynecology, Emergency Clinical County Hospital, 200642 Craiova, Romania
Corresponding author
Drăgoescu, Alice Nicoleta
ORCID
Venue
Brain Sciences
Publisher
MDPI AG
Published
2023-01-09
Volume
13
Issue
1
Pages
118
ISSN
2076-3425 (ISSN-L)
DOI
10.3390/brainsci13010118
PMC
PMC9857041
OpenAlex
W4313897812
Cited by
20
References
3
Citations by year
2026: 4 · 2025: 8 · 2024: 6 · 2023: 2
FWCI
7.34
Type
journal article
Language
en
Open access
Licence
Locations
  • Brain Sciences (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Topics
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
  • Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Spinal Dysraphism and Malformations
Keywords
first-trimester ultrasound, central nervous system malformations, fetal brain anomalies, spina bifida, exencephaly, holoprosencephaly, hydrocephalus, Dandy-Walker malformation, intracranial translucency, cisterna magna, agenesis of the corpus callosum, cerebellar hypoplasia, vein of Galen aneurysm, fetal infection, intraventricular cysts, detection rate

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

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