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Screening Neonates for Birth Defects Improves Survival, Doctors Say

It also helps reduce the number of infants growing into adults and living with a congenital problem due to late detection.

  • Some of the common congenital diseases found in children include congenital heart defects, clubfoot, cleft lip or palate, spina bifida, underdeveloped limbs, sickle-cell disease, phenylketonuria, Down syndrome, fragile X syndrome, hearing defects and inborn errors of metabolism
  • In many cases, the exact cause of congenital anomaly cannot be identified though potential reasons can be single gene defects, chromosomal disorders, multifactorial inheritance, consanguinity, environmental teratogens (an agent, which can cause a birth defect), and micronutrient deficiencies.

Pune, 23rd January, 2019: Comprehensive neonatal checkup, including screening newborns for congenital diseases is necessary according to doctors. This helps to identify any serious developmental disease at the beginning which in turn may reduce the number of infants succumbing to the disorder. In the long run, it may also help bring down the number of adults living with a problem due to late detection of the disorder.

Some of the common congenital diseases found in children include congenital heart defect, clubfoot, cleft lip or palate, spina bifida, underdeveloped limbs, sickle-cell disease, phenylketonuria, Down syndrome, and fragile X syndrome. Congenital heart disease is one of the most common types of birth defects; nearly 60,000 to 90,000 children in the country have critical CHD.

 “Congenital anomalies or birth defects can be defined as structural or functional (e.g. metabolic disorders) anomalies that occur during intrauterine life and can be identified prenatally, at birth or later in life. They are also known as birth defects, congenital disorders or congenital malformations and are the major cause of new born deaths within four weeks of birth. It can result in long-term disability with a significant impact on individuals, families, societies and healthcare systems. The newborn survival rate depends a lot on the baby’s access to screening, early diagnosis and treatment – if s/he gets everything in time, the baby has as much as 95 per cent chance of survival with good long-term outcome. However, in developing countries like India, access to specialized healthcare is sporadic, especially in semi-urban or rural areas. Hence, neonatal deaths due to congenital problem cannot be completely avoided as of late. In Columbia Asia hospitals, we do mandatory testing for 7 common inborn errors of metabolism for all newborn. Also the parents are asked to bring back the newborn for hearing tests,” says Dr. Pranjali Deshpande,Consultant – Pediatrics, Columbia Asia Hospital, Pune.

The prevalence of birth defects in India is 6 – 7 per centile nearly 1.7 million birth defects annually. The common birth defects include congenital heart disease (8 – 10 per 1000 live births), congenital deafness (5.6-10 per 1000 live births), and neural tube defects (4-11.4 per 1000 live births). In nearly half of the cases, the exact cause of congenital anomaly could not be identified. However, there are some known risk factors include single gene defects, chromosomal disorders, multifactorial inheritance, environmental teratogens (an agent, which can cause a birth defect), and micronutrient deficiencies.

Some birth defects are clinically apparent at birth; others may only be diagnosed later in life. The structural defect such as spina bifida is manifested at birth whereas haemophilia, a functional defect (a bleeding disorder), is not usually obvious until infancy or childhood. In many of the cases, diagnosis takes long due to rapid population growth and lack of access of formal healthcare services. Besides, many women in India still deliver at home in unsupervised settings and away from the mandatory checks of a formal healthcare system. 

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