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First-Trimester Ultrasound Effective for Screening for Fetal CHD, suggests study

Written By : Dr. Shravani Dali |Medically Reviewed By : Dr. Kamal Kant Kohli Published On 2025-03-10T20:15:54+05:30  |  Updated On 11 March 2025 11:27 AM IST
First-Trimester Ultrasound Effective  for Screening for Fetal CHD, suggests study
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Researchers have found in a new study that first-trimester ultrasound screening enables early prenatal diagnosis and consultation for fetal congenital heart disease (CHD). Further the standardized screening strategy used in the study demonstrated a high detection rate, supporting its effectiveness. However, while this approach is recommended for early diagnosis, it should not replace second-trimester fetal echocardiography.

A study was done to assess the performance of a standardized first-trimester ultrasound screening strategy for fetal congenital heart disease (CHD). This was a large retrospective study involving 74 839 consecutive mixed-risk pregnancies (77 396 fetuses). Routine ultrasound scans at 11 + 0 to 13 + 6 weeks' gestation were performed in a single center from January 2015 to June 2023. All fetuses were examined using a predefined standardized ultrasound scanning strategy with adjustment of imaging parameters, which included assessment of the fetal heart.

The ultrasound results (e.g. extracardiac congenital malformations), ultrasound markers (e.g. nuchal translucency thickening, reversed a-wave in the ductus venosus and tricuspid regurgitation), follow-up, genetic tests and diagnostic results were recorded and analyzed. RESULTS: In total, there were 831 cases of CHD, with an incidence of 1.07% (831/77 396). In the first-trimester scan, 590 fetuses were diagnosed with CHD, but four were confirmed as normal in later examinations. In addition, 245 cases were missed.

The detection rate was 70.52%, with a sensitivity, specificity, false-positive rate and false-negative rate of 70.52%, 99.99%, 0.01% and 29.48%, respectively. In fetuses with negative ultrasound markers and no extracardiac malformations, the detection rate of CHD was 45.79% (185/404). There were 281 cases that underwent karyotyping and chromosomal microarray (245 fetuses) or whole-exome sequencing (36 fetuses). In total, 38.79% (109/281) had a positive genetic test result. There were 273/831 CHD cases associated with extracardiac malformations.

The abnormal image patterns and abnormal features of each view in the scanning strategy were summarized. Ultrasound screening for fetal CHD in the first trimester of pregnancy enables earlier prenatal diagnosis and consultation. The standardized ultrasound screening strategy used in this study had a high detection rate for fetal CHD in the first trimester.

Our proposed fetal heart screening strategy shows promising effectiveness for early diagnosis of CHD and we recommend its use. It is important to note, however, that first-trimester ultrasound screening for fetal CHD should not replace fetal echocardiography in the second trimester. © 2025 International Society of Ultrasound in Obstetrics and Gynecology.

Reference:

Yang, S, et al. "Evaluation of First-trimester Ultrasound Screening Strategy for Fetal Congenital Heart Disease." Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2025.

First-TrimesterUltrasoundEffectiveScreeningFetalCHDsuggestsstudyUltrasound in Obstetrics & Gynecology
Source : Ultrasound in Obstetrics & Gynecology
Dr. Shravani Dali
Dr. Shravani Dali

    Dr. Shravani Dali has completed her BDS from Pravara institute of medical sciences, loni. Following which she extensively worked in the healthcare sector for 2+ years. She has been actively involved in writing blogs in field of health and wellness. Currently she is pursuing her Masters of public health-health administration from Tata institute of social sciences. She can be contacted at editorial@medicaldialogues.in.

    Dr. Kamal Kant Kohli
    Dr. Kamal Kant Kohli

    Dr Kamal Kant Kohli-MBBS, DTCD- a chest specialist with more than 30 years of practice and a flair for writing clinical articles, Dr Kamal Kant Kohli joined Medical Dialogues as a Chief Editor of Medical News. Besides writing articles, as an editor, he proofreads and verifies all the medical content published on Medical Dialogues including those coming from journals, studies,medical conferences,guidelines etc. Email: drkohli@medicaldialogues.in. Contact no. 011-43720751

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