Frequency and Spectrum of Congenital Abnormalities Diagnosed on Ultrasound Scan in a Tertiary Care Hospital

Authors

  • Arifa Khan Department of Obstetrics and Gynaecology, Lady Reading Hospital, Peshawar, Pakistan.
  • Sumaira Yasmin Department of Obstetrics and Gynaecology, Lady Reading Hospital, Peshawar, Pakistan.
  • Umme Kalsoom Department of Obstetrics and Gynaecology, Lady Reading Hospital, Peshawar, Pakistan.
  • Kiran Gohar Department of Obstetrics and Gynaecology, Lady Reading Hospital, Peshawar, Pakistan.
  • Gulilala Department of Obstetrics and Gynaecology, Lady Reading Hospital, Peshawar, Pakistan.

DOI:

https://doi.org/10.70749/ijbr.v3i4.2111

Keywords:

Congenital anomalies, Ultrasound, Second trimester, Prevalence, Antenatal screening

Abstract

Background: Congenital anomalies represent a major cause of perinatal morbidity and mortality worldwide. Timely detection during routine prenatal care allows for better counseling, management, and improved outcomes. Ultrasound serves as the primary screening modality, yet prevalence patterns vary across regions and populations. Objective: To determine the frequency and types of congenital anomalies diagnosed on ultrasound scan. Study Design: Cross-sectional study. Duration and Place of Study: The study was conducted from May 2024 to October 2024 at the Department of Obstetrics and Gynaecology, Lady Reading Hospital, Peshawar. Methodology: A total of 225 pregnant women, aged 18–50 years, with singleton pregnancies between 18 and 20+6 weeks of gestation were enrolled through consecutive sampling. Women with epilepsy or unwilling to participate were excluded. After informed consent, demographic details were recorded, followed by detailed history, examination, and targeted ultrasound by a consultant gynecologist. Congenital anomalies were categorized into central nervous system, urinary, skeletal, gastrointestinal, and cardiovascular groups based on established sonographic criteria. Results: Congenital anomalies were detected in 15 women (6.7%), while 210 (93.3%) had normal findings. Central nervous system anomalies were most frequent (33.3%), followed by urinary (20.0%), gastrointestinal (20.0%), skeletal (13.3%), and cardiovascular anomalies (13.3%). Maternal age showed no significant association (p=0.594), with anomalies present in 7.6% of mothers ≤30 years and 5.3% in mothers >30 years. Parity was also non-significant (p=0.381). Gestational age was significantly associated (p=0.007), with no anomalies detected ≤19 weeks, compared to 9.6% >19 weeks. Conclusion: Ultrasound screening in the second trimester is a valuable tool for identifying congenital anomalies, with the central nervous system most frequently affected.

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References

1. Malherbe HL, Modell B, Blencowe H, Strong KL, Aldous C. A review of key terminology and definitions used for birth defects globally. J Community Genet. 2023;14(3):241-262.

https://doi.org/10.1007/s12687-023-00642-2.

2. Meng X, Song M, Zhang K, Lu W, Li Y, Zhang C, et al. Congenital heart disease: types, pathophysiology, diagnosis, and treatment options. MedComm (2020). 2024;5(7):e631.

https://doi.org/10.1002/mco2.631.

3. Verma RP. Evaluation and risk assessment of congenital anomalies in neonates. Children (Basel). 2021;8(10):862.

https://doi.org/10.3390/children8100862.

4. Sadlecki P, Walentowicz-Sadlecka M. Prenatal diagnosis of fetal defects and its implications on the delivery mode. Open Med (Wars). 2023;18(1):20230704.

https://doi.org/10.1515/med-2023-0704.

5. Al-Dewik N, Samara M, Younes S, Al-Jurf R, Nasrallah G, Al-Obaidly S, et al. Prevalence, predictors, and outcomes of major congenital anomalies: a population-based register study. Sci Rep. 2023;13(1):2198.

https://doi.org/10.1038/s41598-023-27935-3.

6. Howley MM, Williford E, Agopian AJ, Lin AE, Botto LD, Cunniff CM, et al. Patterns of multiple congenital anomalies in the National Birth Defect Prevention Study: challenges and insights. Birth Defects Res. 2023;115(1):43-55.

https://doi.org/10.1002/bdr2.2003.

7. Ahn D, Kim J, Kang J, Kim YH, Kim K. Congenital anomalies and maternal age: a systematic review and meta-analysis of observational studies. Acta Obstet Gynecol Scand. 2022;101(5):484-498.

https://doi.org/10.1111/aogs.14339.

8. Wilson L, Whitby EH. The value of fetal magnetic resonance imaging in diagnosis of congenital anomalies of the fetal body: a systematic review and meta-analysis. BMC Med Imaging. 2024;24(1):111.

https://doi.org/10.1186/s12880-024-01286-5.

9. Bardi F, Bergman JEH, Siemensma-Mühlenberg N, Elvan-Taşpınar A, de Walle HEK, Bakker MK. Prenatal diagnosis and pregnancy outcome of major structural anomalies detectable in the first trimester: a population-based cohort study in the Netherlands. Paediatr Perinat Epidemiol. 2022;36(6):804-814.

https://doi.org/10.1111/ppe.12914.

10. Lugli L, Rossi C, Berardi A, Pugliese M, Ceccarelli PL, Sileo FG, et al. Prenatal multidisciplinary counseling for fetal congenital anomalies: a narrative review. Int J Gynaecol Obstet. 2025;169(2):498-510.

https://doi.org/10.1002/ijgo.16068.

11. Babu RS, Pasula S. Frequency of foetal anomalies in a tertiary care centre. J Clin Diagn Res. 2013;7(7):1276-1279.

12. Hamid A, Inayat Q, Khan J. Incidence and nature of human congenital anomalies. J Med Sci (Peshawar). 2015;23(2):69-72.

13. Onyambu CK, Tharamba NM. Screening for congenital fetal anomalies in low risk pregnancy: the Kenyatta National Hospital experience. BMC Pregnancy Childbirth. 2018;18:180.

https://doi.org/10.1186/s12884-018-2141-214.

14. Tiwari A, Nigam A, Singh B, Gupta VK, Taneja AK. Prevalence and pattern of congenital anomalies detected in antenatal ultrasound: a hospital-based cross-sectional study. SSR Inst Int J Life Sci. 2025;11(4):7980-7984.

https://doi.org/10.21276/SSR-IIJLS.2025.11.4.27.

15. Sylejmani S, Syla B, Shala S. Diagnosis of congenital anomalies during routine fetal surveillance. Donald School J Ultrasound Obstet Gynecol. 2015;9(2):159-174.

https://doi.org/10.5005/jp-journals-10009-1402

16. Mahdi SA, Kareem TF, Abdullah DF. Preterm detection of congenital anomalies by ultrasound and correlation with possible associated risk factors. Wiad Lek. 2022;75(1):268-274.

https://doi.org/10.36740/wlek202201221

17. Khalid NH, Alyami NS, Althobaiti RS, Al Salem NA, Al Qatran SS, Alosaimi GA. Analysis of fatal congenital anomalies among pregnant women at Saudi Arabia using ultrasonography. Bioinformation. 2025;21(5):1176-1181.

https://doi.org/10.6026/973206300211176

18. Ahmed AM, Diab YM, Alzohry MF. Role of ultrasound in prenatal diagnosis of congenital urinary tract fetal anomalies. Al-Azhar Int Med J. 2024;5(12):Article 5.

https://doi.org/10.58675/2682-339X.27842682-339X.

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Published

2025-04-30

How to Cite

Khan, A., Yasmin, S., Kalsoom, U., Gohar, K., & Gulilala. (2025). Frequency and Spectrum of Congenital Abnormalities Diagnosed on Ultrasound Scan in a Tertiary Care Hospital. Indus Journal of Bioscience Research, 3(4), 958-961. https://doi.org/10.70749/ijbr.v3i4.2111