Routine first-trimester ultrasound screening using a standardized anatomical protocol
Abstract
Background First-trimester ultrasound scans were introduced to China for nearly 20 years. The ability of first-trimester ultrasound screening to detect different malformations was variable. A recent systematic review concluded that the use of a standardized anatomic protocol was the most crucial factor to improve the sensitivity of first-trimester ultrasound screening for anomalies. Standardized sectional scans have long been used for routine anatomy screening during the second trimester. However, during the first trimester, most of the previous studies have described the observation of anatomic structures but have not specified clearly the standard sectional views. Objective We aimed to determine the performance of routine first-trimester scans using a standardized anatomic protocol for detecting structural abnormalities in China. Study design This was a large retrospective study involving 59,063 sequential unselected pregnancies. Scans at 11 to 13+6 weeks were performed in a single center during a 7-year span. All fetuses were examined following a predefined protocol for standardized views. Results From October 2008 to December 2015, first-trimester scans were performed in 53,349 pregnant women with available outcome. Of these, there were 1578 (3%) pregnancies that presented with at least 1 fetal structural abnormality. The detection rate for first-trimester screening was 43.1% (95% confidence interval, 40.6%-45.5%). Routine first-trimester scans detected 95.6% of abdominal wall defects, 66.3% of nervous system defects, 33.8% of limbs and skeleton malformations, 30.8% of facial abnormalities, 21.2% of urogenital abnormalities, 18.4% of thoracic and lung abnormalities, and 4.1% of gastrointestinal tract abnormalities. During the first trimester, 37.7% of cardiac defects were identified and included 57.9% of major cardiac defects and 2.6% of mild cardiac defects. A robust high detection rate for anencephaly, exencephaly, cephalocele, holoprosencephaly, exomphalos, gastroschisis, Pentalogy of Cantrell, sirenomelia, and body stalk anomaly was achieved during routine first-trimester scans. Conclusion A standardized anatomic protocol is advised when performing routine first-trimester ultrasound screening. It is recommended that screening for severe structural abnormalities should be extended to the first trimester.
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With proper clinical training, the first-trimester ultrasound scan proves both clinically and cost-effective for diagnosing major fetal structural anomalies, especially when using specific standardized protocols.
“In fact, results from recent studies showed that with proper clinical training, the first-trimester ultrasound scan proves both clinically and cost-effective for diagnosing major fetal structural anomalies [32,33], especially when using specific standardized protocols [34].”
From First-Trimester Ultrasound: A Comparative Review of Guidelines (2026) · cites this paper as [34]
Cites
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<scp>ISUOG</scp> Practice Guidelines: performance of first‐trimester fetal ultrasound scan
(2013) · Ultrasound in Obstetrics & Gynecology · doi:10.1002/uog.12342 · Cited by 621 · see citing works
Megacystis at 10–14 weeks of gestation: Chromosomal defects and outcome according to bladder length
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First-Trimester Ultrasound: A Comparative Review of Guidelines
Boureka, E., Tsakiridis, I., Michos, G., Liberis, A., Giouleka, S., Mamopoulos, A., Kalogiannidis, I., & Dagklis, T. (2026) · Diagnostics · doi:10.3390/diagnostics16111695
- Authors
- Liao, Y., Wen, H., Ouyang, S., Yuan, Y., Bi, J., Guan, Y., Fu, Q., Yang, X., Guo, W., Huang, Y., Zeng, Q., Qin, Y., Xiang, H., & Li, S.
- Affiliations
- Shenzhen Maternity and Child Healthcare Hospital (CN)
- Corresponding author
- Li, Shengli
- Venue
- American Journal of Obstetrics and Gynecology
- Publisher
- Elsevier BV
- Published
- 2021-04
- Volume
- 224
- Issue
- 4
- Pages
- 396.e1-396.e15
- ISSN
- 0002-9378 (ISSN-L)
- OpenAlex
- W3096221354
- Cited by
- 92
- References
- 3
- Citations by year
- 2026: 12 · 2025: 21 · 2024: 21 · 2023: 25 · 2022: 11 · 2021: 2
- FWCI
- 9.13
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- Locations
- American Journal of Obstetrics and Gynecology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Natural Science Foundation of China (81771598,81571758)
- Science and Technology Planning Project of Shenzhen Municipality
- Shenzhen Science and Technology Innovation Program (JCYJ20170307091013214)
- National Key Research and Development Program of China (2018YFC1002202, 81771598,81571758)
- Topics
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
- Health Sciences › Medicine › Surgery › Congenital Anomalies and Fetal Surgery
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
- Keywords
- first-trimester ultrasound screening, fetal structural anomalies, prenatal diagnosis, detection rate, cardiac defects, neural tube defects, abdominal wall defect, holoprosencephaly, omphalocele, pentalogy of Cantrell, sirenomelia, body stalk anomaly
- MeSH terms
- Congenital Abnormalities, Adolescent, Adult, Clinical Protocols, Female, Humans, Middle Aged, Pregnancy, Pregnancy Trimester, First, Retrospective Studies, Ultrasonography, Prenatal, Young Adult
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