Improving early diagnosis of congenital malformations using detailed assessment of fetal anatomy

Piskulina A.A., Kostyukov K.V.

Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia, Moscow, Russia

Relevance. Modern approaches to prenatal diagnosis demonstrate transition from the standard fetal anatomy screening in the second trimester to early detection of congenital anomalies at 11–14 weeks. In 2023, the updated guidelines of International Society of Ultrasound in Obstetrics & Gynecology (ISUOG) provided recommendations to follow the basic examination with a more detailed examination of the fetal anatomy. However, in Russia detailed examination of fetal anatomy in the first trimester is not regulated by the Order No.1130n (2020) of the Ministry of Health of Russia. 
Objective. To compare the effectiveness of basic and detailed assessment of fetal anatomy in the first trimester of pregnancy based on the detection rate and congenital structural anomalies.
Materials and methods. Screening tests in the first trimester of pregnancy were analyzed in two groups. The group with standard protocol for assessment of fetal anatomy included 10,044 women who underwent screening tests in the first trimester of pregnancy in 2018–2023. The group with extended protocol for assessment of fetal anatomy included 2,741 patients who underwent screening tests in 2023–2025.  The patients in both groups had singleton pregnancies, and underwent combined screening in the first trimester at 11+0–13+6 weeks (fetal crown-rump length (CRL) 45–84 mm)) at V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology of the Ministry of Health of Russia. Ultrasound screening was performed in accordance with the Order No. 1130n of the Ministry of Health of Russia and ISUOG’s recommendations. The parametric and non-parametric statistical tests were used for data analysis depending on the type of variables. Statistical significance of differences was set at p<0.05. All calculations were made using software programs GraphPad Prism V. 9.5.1 and Microsoft Excel.
Results. In the group with basic assessment of fetal anatomy, the detection rate of CA was 4.3% (429/10,044). In the group with detailed assessment, the detection rate of CA significantly increased up to 8.2% (226/2741). Comparative analysis of congenital structural anomalies showed statistically significant increase in the detection rate almost in all anatomical structure groups using detailed assessment of fetal anatomy (p<0.005). In the studied period, the percentage of frequently detected anomalies in the first trimester increased from 42.7% (183/429) to 48.7% (110/226) (p<0.05). The percentage of anomalies with average detection increased from 50.6% (217/429) to 55.3% (125/226) (p<0.05). Also, the percentage of extremely rare detected anomalies proved to be statistically significant and increased from 6.7% (29/429) to 11.06% (25/226) (p=0.045).
Conclusion. Ultrasound examination in the first trimester allows to detect different congenital anomalies. The use of protocol for detailed assessment of fetal anatomy enabled to increase the detection rate of CA almost by 2 times – from 4.3% to 8.1%. Stratification of patients according to the underlying risk of chromosomal abnormalities is of key importance. The use of protocol for detailed assessment in the high-risk group increased detection rate of CA from 8.1 to 15.7%. This justifies the prioritized implementation of this approach specifically for this category of pregnant women for early diagnosis of anomalies and optimization of pregnancy management.

Authors' contributions. Piskulina A.A. – review of publications on the topic of the article, obtaining data for analysis, statistical data processing, manuscript writing; Kostyukov K.V. – the study design; manuscript editing.
Conflicts of interest. The authors confirm that they have no conflict of interest to declare.
Funding. The study was carried out without any sponsorship. 
Ethical Approval. This study does not require Ethics Committee’s Approval, since this is a retrospective analysis of data obtained during standard screening tests at V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology,  Ministry of Health of Russia.
Generative Artificial Intelligence. No generative AI was used in preparing this article.
Patient Consent for Publication. The patients have signed informed consent for publication of their data.
Authors' Data Sharing Statement. The data supporting the findings of this study are available on request from the corresponding author after approval from the principal investigator.
For citation: Piskulina A.A., Kostyukov K.V. Improving early diagnosis of 
congenital malformations using detailed assessment of fetal anatomy.
Akusherstvo i Ginekologiya/Obstetrics and Gynecology. 2026; (7): 72-79 (in Russian)
https://dx.doi.org/10.18565/aig.2026.34

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About the Authors

Alexandra A. Piskulina, PhD student, Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia, 117997, Russia, Moscow, Ac. Oparin str., 4, +7(904)888-36-22, piskulinaalexandra@yandex.ru, https://orcid.org/0009-0005-7845-690X
Kirill V. Kostyukov, Dr. Med. Sci., Head of the Department of Functional and Ultrasonic Diagnostics, Department of Visual Diagnostics, Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia, 117997, Russia, Moscow, Ac. Oparin str., 4, +7(926)214-97-84, kostyukov_k@yahoo.com, https://orcid.org/0000-0003-3094-4013

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