A Journey Through Birth Defects: From Trainee to Pediatrician’s Perspective

In our context, lack of consistent documentation makes it difficult to fully understand the true burden of birth defects. This realization, together with my early clinical experiences in neonatology, motivated me to explore this field more deeply, not only as a clinician but also as a researcher.
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BioMed Central
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Patterns and risk factors of birth defects in Bangladesh: evidence from a neonatal intensive care unit - BMC Pregnancy and Childbirth

Introduction Birth defects constitute substantial contributor to neonatal mortality and morbidity particularly in low and middle income countries. In Bangladesh, limited screening and low awareness contribute to delayed diagnoses and inadequate care. This study aimed to delineate the patterns of birth defects and identify associated risk factors to provide baseline data in a tertiary care neonatal intensive care unit in Bangladesh to support future surveillance, inform policy development, and guide preventive strategies. Methods This hospital based prospective observational study was conducted in the Department of Neonatology at Chittagong Medical College Hospital, Bangladesh, from August to December 2020. Neonates with birth defects were identified through detailed clinical examination and classified according to the International Classification of Diseases, 10th Revision, Clinical Modification. Relevant data were collected using a predesigned questionnaire. Data were analyzed in SPSS version 28. Logistic regression was done to identify perinatal risk factors. A p-value < 0.05 was considered statistically significant. Results Among 5,223 admitted neonates, 183 (3.5%) had birth defects. Musculoskeletal anomalies were most common (67 cases), followed by cleft lip/palate (30), circulatory (29), chromosomal (24), eye, ear, face and neck (23) anomalies. Among these neonates, 56 (30.6%) died, with a 1.59 fold higher mortality risk compared to those without defects (95% CI: 1.15–2.18; p = 0.005). Maternal hypertension (AOR: 3.92; 95% CI: 2.56–5.99; p < 0.001), diabetes mellitus (AOR: 4.15; 95% CI: 2.37–7.27; p < 0.001), polyhydramnios (AOR: 7.33; 95% CI: 2.63–20.41; p < 0.001), and oligohydramnios (AOR: 10.19; 95% CI: 3.68–28.23; p < 0.001) were strongly associated with birth defects. Conclusions The study highlights the significant burden of birth defects and associated neonatal mortality. Musculoskeletal anomalies were the most frequently observed defects. Maternal hypertension and diabetes mellitus were identified as strong predictors, warranting targeted antenatal screening and timely intervention. Routine neonatal examination at community level as well as in hospital is recommended to facilitate early detection and proper referral of birth defects.

Many years ago, during my honorary training in neonatology, I encountered newborns with various types of birth defects, many of which I was seeing for the first time. Unfortunately, many of these babies did not survive. During this period, I became familiar with terms such as malformation, deformation, and disruption, and my curiosity about congenital anomalies grew.

At that time, I had a mobile phone with a camera whose resolution was not very good—much like my level of training at that early stage of my career. Nevertheless, I started documenting the cases I encountered. By the end of my three-month training period, I had collected enough material to prepare a presentation on the congenital anomalies I had seen during that time.

My teachers appreciated my effort to collect local data, and that moment marked the beginning of my journey into the field of birth defects.

The irony is that, many years later, the fate of many children born with birth defects remains unchanged for various reasons, including limited awareness, delayed diagnosis, and inadequate access to specialized care. It is high time that we strengthen our efforts to prevent birth defects, improve early detection, and ensure better care for affected children and their families.

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Go to the profile of Olena Yelizarova
5 days ago

Thank you for raising this important issue and for sharing such a personal and formative clinical experience.

This topic is also very close to my own professional path. My PhD research was devoted to the frequency of congenital anomalies among live births in Ukraine, and it served as a pilot study for the implementation of a Genetic Monitoring Programme. That programme no longer operates in its original form, but the work done during that period became part of a much longer and very difficult path toward systematic early detection of hereditary and congenital conditions.

In Ukraine, this path has taken almost two decades and has contributed to the development of neonatal screening and prenatal testing/diagnostic approaches aimed at earlier diagnosis, timely treatment, and prevention where possible. It was not a quick or simple process, and your post is an important reminder that behind every public health programme there are years of clinical observation, local data collection, advocacy, and persistence.

I fully agree that we still need stronger awareness, earlier diagnosis, better referral pathways, and more accessible specialized care for children with birth defects and their families.

Go to the profile of Olena Yelizarova
5 days ago

Your emphasis on consistent documentation is especially important. Without reliable registration and monitoring, birth defects remain visible mainly as individual clinical tragedies, but not as a measurable public health burden.

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