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Unraveling Patterns of Congenital Structural Malformations in Infants: A Hospital-Based Descriptive Study
Savita Pandey1, Yasir A Lone2, Saikat Patra3
1Pediatrics, Himalayan Institute of Medical Sciences, Swami Rama Himalayan University, Dehradun, IND.
Insights
This study on congenital malformations in Uttarakhand found that most anomalies occur in mothers aged 18-30, not older mothers. Cleft lip/palate and congenital heart disease were the most common defects observed.
Area of Science:
- Pediatric Surgery
- Medical Genetics
- Public Health
Background:
- Congenital malformations significantly impact developing countries due to limited healthcare data and diagnostics.
- Affected families face considerable stress and hardship.
- Understanding regional patterns is crucial for health service planning.
Purpose of the Study:
- Evaluate the clinical patterns of congenital structural malformations in Uttarakhand, India.
- Identify potential associated factors contributing to these malformations.
- Determine the immediate outcomes for affected infants.
Main Methods:
- A hospital-based study involving 150 cases of congenital malformations.
- Clinical data collection on malformation types, patient demographics, and outcomes.
- Analysis of associated factors including maternal age and consanguinity.
Main Results:
- Cleft lip/palate (24.7%) and congenital heart disease (CHD) (22%) were the most frequent external and internal anomalies, respectively.
- 86.6% of anomalies occurred in mothers aged 18-30 years; consanguineous marriage was a minor factor (3.3%).
- Mortality was 7.3%, with CHD being the leading cause of death.
Conclusions:
- Maternal age 18-30 is a significant demographic for congenital anomalies in this region, challenging the notion of advanced maternal age being the primary cause.
- Consanguinity appears to be a less significant factor in Uttarakhand compared to other regions.
- Congenital heart disease poses the highest mortality risk, necessitating targeted interventions.
Abstract:
Introduction Congenital malformation studies serve several purposes, including establishing baseline rates, monitoring changes over time, exploring the origins of these defects, and helping in planning health services. Increasing public awareness about pediatric surgical interventions is another goal of these studies. However, the impact of congenital malformations is often underestimated in developing countries due to insufficient healthcare data and diagnostic facilities, particularly in rural areas. Families affected by the birth of a child with congenital malformations face significant stress and hardship. Methods The main aims of this study were to evaluate the clinical pattern of congenital structural malformations in our region (Uttarakhand, India), identify possibly associated factors of congenital malformations, and find out the immediate outcome of congenital malformations in enrolled participants. Results Among a total of 150 cases, 73 (48.7%) cases were inborn, whereas 77 (51.3%) cases were outborn. Investigation of congenital malformation revealed cleft lip or palate in 37 (24.7%) cases, congenital heart disease (CHD) in 33 (22%) cases, meningomyelocele (MMC) in 18 (12.0%) cases, anorectal malformation (ARM) in 11 (7.3%) cases, hypospadias in 10 (6.7%) cases, congenital talipes equinovarus (CTEV) in nine (6.0%) cases, tracheoesophageal fistula (TEF) in nine (6.0%) cases, polydactyly in seven (4.7%) cases, pelviureteric junction obstruction (PUJO) in four (2.7%) cases, duodenal atresia in three (2.0%) cases, midgut volvulus in three (2.0%) cases, umbilical sinus in two (1.3%) cases, sacrococcygeal teratoma (SCT) in one (0.7%) case, phimosis in one (0.7%) case, microtia in one (0.7%) case, and micrognathia in one (0.7%) case. Mortality was observed in 11 (7.3%) cases, whereas 105 (70%) cases were successfully discharged. Among 11 mortality cases, the cause of death was CHD in seven (63.2%) cases, TEF+CHD in two (18.1%) cases, MMC in one (9%) case, and duodenal atresia in one (9%) case. Conclusion Contrary to the common belief that advanced maternal age of greater than 35 years is a major cause, 86.6% of the congenital structural anomalies in our hospital-based study in Uttarakhand occurred in babies of mothers belonging to the age group of 18-30 years. Also, consanguineous marriage was observed in only 3.3% of cases, indicating that it may not be a major contributing factor causing congenital structural malformations in our region. External congenital anomalies are most commonly observed (60.7%), with cleft lip and cleft palate being the most common. The most frequently observed internal congenital anomaly is CHD (22%) followed by gastrointestinal (GI) (18.6%) and urinary anomalies (10.1%). Death and referral are commonly seen in CHD.
