Magnitude, risk factors and immediate outcome of external congenital anomalies in neonates in government Cuddalore medical college and hospital: an observational study

INTRODUCTION

Congenital abnormalities (CA) are anatomical, behavioral, functional, and metabolic conditions that develop in utero and can be detected during pregnancy, at birth, or later in infancy. Congenital defects increase the risk of morbidity and mortality in newborns. Major CA are thought to affect 7.9 million newborns annually.¹ Global newborn mortality as a percentage caused by CA increased from 3% in 2008 to 4.4% in 2013.²

Major CAs, which occur in 2-3% of live births and 20-30% of stillbirths, are anomalies that have a considerable impact on life expectancy.³ Due to complex interactions between genetic and environmental factors, incidence varies over time and geographic regions.⁴ They represent between 15 and 30 percent of pediatric hospitalizations and roughly 3 percent of live births in the United States.⁵

In studies that have concentrated on externally anomalies, the musculoskeletal system is most frequently afflicted.^4,7 The digestive and cardiovascular systems have hitherto dominated investigations.⁸ The gastrointestinal system has been the most commonly reported in earlier research in low-income countries.⁸

Birth deformities have a multifactorial etiology. These elements may have genetic (10-30%), environmental (5-10%), or multifactorial inheritance (2035%) origins; the remaining (30-45%) origins are unknown.³ In LMICs, infectious pathogens appear to be the most significant environmental component. Age, lifestyle, pregnancy-related disorders, medication use, and peri-conceptional folic acid use are all implicated maternal variables.^3,7 Other crucial elements in the etiology of CAs include parental consanguinity, prior miscarriages and stillbirths, and inheritable congenital illness.⁷

Major CA in LMICs have mortality rates of 20-85% (compared to fewer than 10% in high-income countries), and typically, newborns with CA have higher mortality rates than infants born normally.⁹Among CA fatalities, 95% occur in LMIC countries. Birth abnormalities contribute to 25.3 to 35.8 million disability-adjusted life years globally.¹

Despite enormous incidence of congenital malformations in LMICs, there are presently few thorough data on these disorders because there are no birth defect registries. Due to a lack of proper surveillance at medical institutions, underreporting, inadequate diagnostic capability, and low awareness, the prevalence of CA is significantly underestimated in LMICs.¹⁰

Prevalence studies are required to establish baseline rates, show trends over time, and provide etiological hints.⁶ To determine the relative morbidity and mortality of neonatal admissions with congenital defects against those with other acute conditions, outcomes of neonates with congenital anomalies should be studied. Thus, this study can help policymakers strengthen surveillance of these abnormalities and perhaps boost public understanding of how these anomalies affect total infant death.

METHODS

Study design

Cross-sectional study design was used.

Study duration

Study carried out from September 2022 to August 2023.

Study place

Study conducted at government Cuddalore medical college and hospital, department of paediatrics.

Target population

Neonates born during the study period in government Cuddalore medical college and hospital.

Inclusion criteria

All neonates who are born in government Cuddalore medical college and hospital are included for determining the magnitude. All neonates with external congenital anomalies are included for consideration of the risk factors and immediate outcomes were included in study.

Exclusion criteria

Still born and terminated pregnancies were excluded from the study.

Sampling procedure

Total population sampling procedure was used.

Ethics approval

Study was approved by the institutional ethics committee (IEC) of government Cuddalore medical college and hospital. Parents were informed about the purpose of the study. Written informed consent was obtained from parents. Participants were assured that the information obtained would be for research purposes and would therefore be anonymous and kept strictly confidential.

Data collection method

A questionnaire was administered to determine the risk factors in neonates with congenital anomalies. Careful methodical head to toe examinations of the neonates was then done. Follow-up of the above neonates was done till discharge/death.

Data collection instruments

Physical instruments

An infantometer for measuring baby length, a digital baby weighing machine to measure weight, inch tape for head circumference were used.

Pretested semi-structured questionnaire

It was used to collect data on socio-demographic details, risk factors, and natal histories.

Examinations

Head-to-toe examination for all external anomalies were done.

Statistical analysis

Data collected entered in MS excel and analyzed using SPSS 22 version. Prevalence is presented as proportions. Continuous values were given with mean and SD.

RESULTS

During the study period, a total of 3537 live births were delivered in government Cuddalore medical college and hospital and all neonates were examined to detect external congenital anomalies.

Magnitude of the problem

Out of the total live births, 201 newborns had external congenital anomalies. The children born with external congenital anomalies among all the live births delivered for one year is 5.68%.

Among major anomalies, cleft lip and/or palate is most common anomaly (5%) and overall sacral dimple is the most commonly observed external congenital anomaly (9.50%).

Distribution of risk factors among babies with external congenital anomalies

Lower segment caesarean section is the commonest mode of delivery among newborns with congenital anomalies (50.7%) closely followed by normal vaginal delivery (46.3%).

More than 79% of the newborns did not encounter any complications in the immediate postpartum period. Birth asphyxia was the commonly observed complication in 13% of the neonates.

The average birth weight of the neonates with congenital anomalies was 2.51 kg (SD=0.59 kg), whereas the mean length at birth was 49.38 cm (SD=0.1, 95) and mean head circumference was 32.90 cm (SD=1.69).

The distributions of the birthweight, length at birth, and head circumference follow a normal distribution.

The majority of the newborns had a birth length of 50 cm.

The APGAR score of the newborns was measured at 1 and 5 minutes of the birth and the minimum and maximum scores were 1 and 8 at the 1^st minute respectively and 4 and 9 at the 5^th minute respectively.

Number of neonates with APGAR score less than 5 at 1 minute was 25 (12.4%) and APGAR score less than 7 at 5 minutes was 17 (8.5%).

Among the neonates with external congenital anomalies, 40 (20%) neonates were preterm of which 7 (3.5%) were born with gestational age of 28 weeks or less amounting to extreme prematurity. The rest 161 (80%) were born at term and none post-term.

More than half of the newborns were born in a first pregnancy and O positive is the most common blood group among the mothers.

The age of the mother during the current pregnancy and body weight were found to be distributed normally.

Distribution of maternal age of mother is normally distributed.

Hypothyroidism was the common complication encountered followed by anemia, and systemic diseases like diabetes, hypertension, and obesity. Among the pregnancy-related complications, oligohydramnios was the commonly found complication in the antenatal period. Around 3% had previous bad obstetric history namely recurrent pregnancy loss in the past.

Outcome of the newborns with external congenital anomalies

More than four-fifths of the newborns with external congenital anomalies were discharged. About 13% of the newborns with congenital anomalies expired.

Among the major external anomalies, 26 (35%) of the newborns expired, 8 (11%) required medical intervention, 39 (53%) required surgical intervention and 1 (1%) required nil intervention. Among those who underwent medical intervention, 2 neonates were treated with pharmacological intervention namely steroid administration.12 neonates underwent surgical correction whereas 21 waiting for surgery.

Six underwent manipulation and fixation by splinting or plaster cast application.

Among the minor external anomalies, 1 (0.7%) of the newborns expired (due to extreme prematurity), 36 (28.3%) required medical intervention, 16 (12.6%) required surgical intervention and 74 (58.4%) required nil intervention. 16 neonates were waiting for surgery (hydrocele, tongue tie, amniotic band syndrome).

DISCUSSION

A cross-sectional study was conducted to assess the magnitude of external congenital anomalies in babies born in government Cuddalore medical college and hospital.

The magnitude of the problem

The 201 newborns had external congenital anomalies and the proportion is 5.68% which is around 568 per 10,000 live births. Among these 33.3% had major anomalies, 63.2% had minor anomalies and 3.5% had both anomalies. Among the major anomalies cleft lip and/or palate is the most common anomaly (5%) in our study. Overall sacral dimple is the most commonly observed external congenital anomaly (9.50%). Among the external congenital anomalies 3% had macrocephaly, 2.5% had congenital diaphragmatic hernia, 1.5% had ambiguous genitalia, 1.5% had Pierre Robin syndrome, 1.5% had collodion and Down’s syndrome was 1.5% in our study.

According to Bhide et al cohort study, there were 1822 births overall, with a prevalence of 230.51 serious CA per 10,000 births.¹³

The incidence was higher in our study (568 per 10000 live births) compared to the above Cohort study. This may be because the above cohort study included only serious congenital anomalies whereas we conducted a study to assess both major and minor anomalies.

Sinha et al conducted an observational study on congenital anomalies in North India. The musculoskeletal system (52.2%), central nervous system (28.3%), and gastrointestinal system (26.1%) were the systems most commonly affected.¹¹ Cleft palate followed by CTEV is the most common congenital anomaly in our study whereas CTEV is the most common in Sinha et al study. But the incidence of cleft palate (6.4%) in Sinha et al study is similar to our study report.

Taye et al, conducted a study among children during 2010-2014 where they reported results similar to our study with oro-facial defects being highest congenital anomaly detected.¹⁴

Risk factors of the problem

This current study found no correlation between gender and a higher frequency of CBDs. In the Sinha et al study, male newborns showed a somewhat greater prevalence of deformity (p=0.064) Numerous Indian studies back up the results.¹¹ The fact that there are still some areas of India where female newborns are deemed undesired pregnancies and are terminated may help to explain the rising male preponderance. Sachdeva et al observed a higher frequency of deformity in female infants, which is contrary to our findings.⁹ This study found no correlation between gender and a higher frequency of CBDs.

Around 50.7% were LSCS-delivered babies and 12.9% of babies had birth asphyxia, 3.9% had meconium-stained liquor, 1% had prolonged second stage of labor. Around 12.4 % had low APGAR at 1 min and 8.5% had low APGAR at 5 mins in the current study.

The mean maternal age of childbirth is 24.9±4.04 years and the mean mother's weight is 60.17±10.6 kg. Around 53.2% had maternal complications with hypothyroidism (14.9%) followed by anemia, GDM and PIH. Oligohydramnios was present in 6.5%, polyhydramnios was present in 4% and BOH was present in 3% in our study The present study shows 11.9% had previous h/o abortion, 17.9% had consanguineous marriage and 3.5% had a positive family history of congenital anomalies.

Sinha et al have shown that no antenatal visits (p=0.041), TORCH and/or VDRL positive (p=0.023), gestational diabetes mellitus (GDM) (p=0.007), hypertension (p=0.090), consanguinity (p=0.03), and no folic acid consumption (p=0.015) were significant variables linked to CBD.¹¹

In our study 20% neonates were preterm of which extremely premature babies were 3.5%. Patel et al observed that the majority of newborns with CBD were above 2500 g (59%) and that their mean weights of 2352.49 g were adequate for gestational age.¹⁵ Padmanabhan et al discovered that 77% of CBD neonates were born at term.¹⁶ In contrast to Sarkar et al, Marwah et al showed a strong connection between abnormalities and prematurity and low birth weight.^17,18 Fetuses having various CA have a higher risk of preterm birth, according to research by Doddabasappa et al.¹⁹

Outcome

Among the major external anomalies (74), 26 (35%) of the newborns expired, 8 (11%) required medical intervention, whereas 39 (53%) required surgical intervention and 1 (1%) required nil intervention in our study.

Among the minor external anomalies (127), 1 (0.7%) of the newborns expired (due to extreme prematurity), 36 (28.3%) required medical intervention, 16 (12.6%) required surgical intervention and 74 required nil intervention (58.4%) in our study.

Anane-Fenin et al conducted a study, where 236 newborns with congenital anomalies were admitted to the facility in South Africa in which 33.2% of newborns with congenital anomalies expired which is similar to the mortality among major external congenital anomalies in our study.¹²

Limitations

The odds ratio was not calculated as the risk factors on babies without congenital anomalies were not studied

Also, this is a single-centric study conducted in one tertiary care center so, this result can't be generalized to all socio-economic populations.

CONCLUSION

The magnitude of congenital anomalies and risk factors in our study highlights the necessity for a birth defect surveillance system. A comprehensive package that includes preventive services, diagnostic, surgical or medical intervention, financial assistance, counselling, and psychosocial support, as well as follow-up treatments like rehabilitation, is required in combating the incidence of congenital anomalies.

Funding: No funding sources

Conflict of interest: None declared

Ethical approval: The study was approved by the Institutional Ethics Committee

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