Frequency of Congenital Anomalies in Newborns: Congenital Anomalies in Newborns

Aksa Ismail; Falak Naz Baloch; Rabia Bosan; Namia Nazir; Amina Begum; Hafiza Mariyam Ishaque; Zareen Kamal

doi:10.54393/pjhs.v6i12.2965

Authors

Aksa Ismail Department of Obstetrics and Gynecology, Civil Hospital, Karachi, Pakistan
Falak Naz Baloch Department of Obstetrics and Gynecology, Bedfordshire Hospitals, National Health Service Foundation Trust, United Kingdom
Rabia Bosan Department of Obstetrics and Gynecology, Shaikh Zayed Hospital for Women, Larkana, Pakistan
Namia Nazir Department of Obstetrics and Gynecology, Civil Hospital, Karachi, Pakistan
Amina Begum Department of Obstetrics and Gynecology, Civil Hospital, Karachi, Pakistan
Hafiza Mariyam Ishaque Department of Obstetrics and Gynecology, Civil Hospital, Karachi, Pakistan
Zareen Kamal Department of Obstetrics and Gynecology, Civil Hospital, Karachi, Pakistan

DOI:

https://doi.org/10.54393/pjhs.v6i12.2965

Keywords:

Congenital Abnormalities, Consanguineous Marriage, Hydrocephalus, Performance-Based Anomalies

Abstract

Congenital abnormalities (CA) are anatomical or performance-based anomalies that express themselves during the in-utero growth and may be diagnosed during pre-birth, during delivery, and post-birth. Objective: To review the incidence of birth defects in infants. Methods: The descriptive cross-sectional study was conducted in the Department of Obstetrics and Gynecology, Civil Hospital, Karachi, during a period of two years, i.e., March 2017 to March 2019. This study had 213 pregnant women. After birth, there was the identification of congenital anomalies in the newborns by visual examination, and other factors were established by the history of the patient or medical records. All the data were recorded on a pre-determined proforma template. Results: The average age of the participants was 27.381 ± 4.08. The most common congenital anomalies were anencephaly (19.7%), hydrocephalus (15.5%), absence of ear/finger/toe/scrotum/arm/leg/limbs (9.4%), cleft lip and cleft palate (8.9%), meningomyelocele (7%), and talipes (8%). The causal variables were maternal age 30 years and above (20.2%), paternal age 35 years and above (19.7%), maternal diabetes mellitus (20.2%), consanguinity marriage (20.2%), maternal infection during pregnancy (8.9%), and maternal folic acid supplementation (61.5%). These are said to be descriptive and not causal. Conclusions: This study highlights the rate of congenital anomalies and the types of congenital anomalies. Its results touch on the importance of routine antenatal care and prenatal screening to intervene and manage affected pregnancies at an earlier stage.

References

Li S. Stroke Recovery Is a Journey: Prediction and Potentials of Motor Recovery After A Stroke from A Practical Perspective. Life. 2023 Oct; 13(10): 2061. doi: 10.3390/life13102061.

Lugli L, Rossi C, Berardi A, Pugliese M, Ceccarelli PL, Sileo FG et al. Prenatal Multidisciplinary Counseling for Fetal Congenital Anomalies: A Narrative Review. International Journal of Gynecology and Obstetrics. 2025 May; 169(2): 498-510. doi: 10.1002/ijgo.16068.

Shahid N, Kazmi T, Farhat S, Naqvi SZ, Ahmed H. A Decade of Perinatal Mortality in Pakistan: Systematic Review of Patterns and Challenges (2013–2022). Journal of Taibah University Medical Sciences. 2025 Apr; 20(2): 139-50. doi: 10.1016/j.jtumed.2025.02.008.

Verma RP. Evaluation and Risk Assessment of Congenital Anomalies in Neonates. Children. 2021 Sep; 8(10): 862. doi: 10.3390/children8100862.

Timilsina D and Gupta S. Prevalence of Congenital Anomalies Among Pregnant Women at a Tertiary Care Center: A Cross-Sectional Study. Cureus. 2025 Feb; 17(2). doi: 10.7759/cureus.79444.

Wojcik MH and Agrawal PB. Deciphering Congenital Anomalies for the Next Generation. Molecular Case Studies. 2020 Oct; 6(5): a005504. doi: 10.1101/mcs.a005504.

World Health Organization. Congenital Disorders. 2023. https://www.who.int/news-room/fact-sheets/detail/birth-defects.

Xie X, Pei J, Zhang L, Wu Y. Global Birth Prevalence of Major Congenital Anomalies: A Systematic Review and Meta-Analysis. BioMed Central Public Health. 2025 Feb; 25(1): 449. doi: 10.1186/s12889-025-21642-6.

Staniczek J, Manasar-Dyrbuś M, Rybak-Krzyszkowska M, Kondracka A, Orszulak D, Niziński K et al. Systematic Review and Meta-Analysis of the Association Between Young Maternal Age and Fetal Abnormalities. Scientific Reports. 2024 Sep; 14(1): 22562. doi: 10.1038/s41598-024-74015-1.

Geda YF, Lamiso YY, Berhe TM, Mohammed SJ, Chibsa SE, Adeba TS et al. Structural Congenital Anomalies in Resource-Limited Setting, 2023: A Systematic Review and Meta-Analysis. PLOS One. 2023 Oct; 18(10): e0291875. doi: 10.1371/journal.pone.0291875.

Didisa MK, Baye Y, Tamiru E, Mengesha G, Solbana LK, Yadeta TA. Trends in Congenital Anomalies and Associated Factors among Newborns in Eastern Ethiopia: An 8-Year Open Cohort Analysis of the Kersa Health and Demographic Surveillance System. British Medical Journal Open. 2025 Feb; 15(2): e089984. doi: 10.1136/bmjopen-2024-089984.

Heaney S, Tomlinson M, Aventin Á. Termination of Pregnancy for Fetal Anomaly: A Systematic Review of the Healthcare Experiences and Needs of Parents. BioMed Central Pregnancy and Childbirth. 2022 May; 22(1): 441. doi: 10.1186/s12884-022-04770-4.

Monier I, Lelong N, Benachi A, Jouannic JM, Khoshnood B, Zeitlin J. Postnatal Diagnosis of Congenital Anomalies Despite Active Systematic Prenatal Screening Policies: A Population-Based Registry Study. American Journal of Obstetrics and Gynecology Maternal-Fetal Medicine. 2023 Nov; 5(11): 101170. doi: 10.1016/j.ajogmf.2023.101170.

Campbell HE, Karim JN, Papageorghiou AT, Wilson EC, Rivero‐Arias O, ACCEPTS Study et al. Evaluating the Cost‐Effectiveness of Antenatal Screening for Major Structural Anomalies During the First Trimester of Pregnancy: A Decision Model. BJOG: An International Journal of Obstetrics and Gynaecology. 2025 Apr; 132(5): 638-47. doi: 10.1111/1471-0528.18053.

Korejo R, Bhutta S, Noorani KJ, Bhutta ZA. An Audit and Trends of Perinatal Mortality at the Jinnah Postgraduate Medical Centre, Karachi. The Journal of the Pakistan Medical Association. 2007 Apr; 57(4): 168-72.

Adam H, Ghenimi N, Minsart AF, Narchi H, Al Awar S, Al Hajeri OM et al. The Impact of Major Congenital Anomalies on Obstetric Outcomes in the United Arab Emirates: the Mutaba’ah Study. Scientific reports. 2025 Jan; 15(1): 2708. doi: 10.1038/s41598-025-87263-6.

Shaheen F, Humayoon QS, Malik S, Mumtaz S. Clinical and Genetic Attributes of Congenital Anomalies Ascertained at a Tertiary Care Hospital in Rawalpindi, Pakistan. Pakistan Journal of Medical Sciences. 2023 Nov; 39(6): 1673. doi: 10.12669/pjms.39.6.7408.

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 Obstetricia et Gynecologica Scandinavica. 2022 May; 101(5): 484-98. doi: 10.1111/aogs.14339.

Loane M, Dolk H, Morris JK, a EUROCAT Working Group. Maternal Age‐Specific Risk of Non‐Chromosomal Anomalies. An International Journal of Obstetrics and Gynaecology. 2009 Jul; 116(8): 1111-9. doi: 10.1111/j.1471-0528.2009.02227.x.

Pethő B, Váncsa S, Váradi A, Agócs G, Mátrai Á, Zászkaliczky-Iker F et al. Very Young and Advanced Maternal Age Strongly Elevates the Occurrence of Nonchromosomal Congenital Anomalies: A Systematic Review and Meta-Analysis of Population-Based Studies. American Journal of Obstetrics and Gynecology. 2024 Nov; 231(5): 490-500. doi: 10.1016/j.ajog.2024.05.010.

Pethő B, Mátrai Á, Agócs G, Veres DS, Harnos A, Váncsa S et al. Maternal Age Is Highly Associated with Non‐Chromosomal Congenital Anomalies: Analysis of A Population‐Based Case‐Control Database. An International Journal of Obstetrics and Gynaecology. 2023 Sep; 130(10): 1217-25. doi: 10.1111/1471-0528.17461.

Asemi-Rad A, Heidari Z, Mahmoudzadeh-Sagheb H, Mehdipour Y, Moudi B, Sheibak N et al. Prevalence of Congenital Anomalies and Related Factors in Live Births in Zahedan, Southeast of Iran: A Cross-Sectional Study. International Journal of Reproductive BioMedicine. 2023 Sep; 21(8): 647. doi: 10.18502/ijrm.v21i8.14020.

Kalam MA, Sharma SK, Ghosh S, Roy S. Linkages Between Consanguinity, Pregnancy Outcomes and Offspring Mortality in Twenty-First Century India. Scientific Reports. 2024 Sep; 14(1): 22522. doi: 10.1038/s41598-024-69151-7.

Manyama M, Al Sayegh D, Al-Sulaiti K, Almasri M, Sharma O, El Jerbi A et al. Congenital Heart Defects and Consanguinity: An Analysis of the Sidra Cardiac Registry Data in Qatar. International Journal of Cardiology: Congenital Heart Disease. 2024 Sep; 17: 100529. doi: 10.1016/j.ijcchd.2024.100529.

Dahbi N, El khair A, Cheffi K, Habibeddine L, Talbi J, Hilali A et al. Consanguinity, Complex Diseases, and Congenital Disabilities in the Souss Population (Southern Morocco): A Cross-Sectional Survey. Egyptian Journal of Medical Human Genetics. 2024 Mar; 25(1): 27. doi: 10.1186/s43042-024-00490-w.

Rajeswari MR, Ramamoorthy A, Rajakumar A, Narayan VK. Consanguineous Marriage as a Key Indicator of Isolated Congenital Dental Anomaly among South Indian Population–A Cross-Sectional Study. Journal of Oral and Maxillofacial Pathology. 2023 Jan; 27(1): 60-5. doi: 10.4103/jomfp.jomfp_265_21.

Fernandes QH, Paixão ES, da Conceição Nascimento Costa M, Teixeira MG, Barreto ML, Acosta AX. Maternal and Gestational Factors Associated with Congenital Anomalies among Live Births: A Nationwide Population-Based Study in Brazil from 2012 to 2020. BioMed Central Pregnancy and Childbirth. 2025 Jul; 25(1): 678. doi: 10.1186/s12884-025-07675-0.

Oppermann ML, Campos MA, Guerra GL, Hirakata VN, Castanho VC, Muck FA et al. Prevalence of Congenital Anomalies in Pregnancies Complicated by Type 2 Diabetes: Systematic Review and Meta‐Analysis. International Journal of Gynecology and Obstetrics. 2025 Jul. doi: 10.1002/ijgo.70369.

Perera N, Rudland VL, Simmons D, Price SA. Folate Supplementation in Women with Pre-Existing Diabetes. Nutrients. 2023 Apr; 15(8): 1879. doi: 10.3390/nu15081879.