Medicolegal Issues Surrounding the Correction of Congenital Abnormalities

17 May 2024

In around 2–3% of pregnancies, the resulting infant is born with a congenital abnormality. The impact of these can be significant: worldwide, over 400,000 children, from new-borns to 5 years of age, die annually due to birth defects. As mortality rates from other causes have declined, congenital abnormalities have become a relatively more important cause of death in this age group. These disorders are also a major contributor to long-term disability, globally contributing to over 25 million disability-adjusted life-years. Not only does this impact the individual patient, the effects are also felt by their family and wider society. 

Congenital abnormalities are classified as either structural or functional defects. Major defects produce functional impairment requiring treatment, while other abnormalities do not usually require medical intervention to improve function, cosmetic appearance may still be an issue. The importance of cosmetic appearance should not be underestimated, as it has significant implications for individuals sense of self and ability to integrate socially.

 The commonest potentially life-threatening congenital abnormalities include heart defects, neural tube defects and Down’s syndrome. While a minority of birth defects are caused by genetic abnormalities, they are more likely to be caused by environmental and demographic factors, such as maternal age; exposure to radiation, pollutants, some drugs or certain illnesses or infectious diseases during pregnancy; and maternal nutritional deficiencies. However, for many abnormalities, no obvious cause is ever found. 

Congenital abnormalities arise during intrauterine development. Although most are identified during prenatal screening or at birth, some, such as hearing problems or metabolic, endocrine and blood disorders, may only manifest later in infancy. Early screening leads to earlier detection and initiation of treatment, which in turn reduces morbidity and mortality. For example, early correction of hearing loss can lead to significantly better language, speech and communication skills, while early referral for congenital cataracts means that surgical correction is possible and the likelihood of sight increases. However, there may be cultural barriers to treatment: in some countries, congenital defects are viewed as the “will of God” and treatment is considered undesirable. 

Recent medical advances mean that many once-fatal congenital abnormalities can now be treated, although affected children will often need long term support, including physical and speech therapy, as well as family and community involvement. It is therefore important that patients, and particularly their parents, have realistic expectations of what can be achieved. Metabolic, endocrine and haematological disorders can often be treated medically, leading to a significant improvement in subsequent quality of life. A good example of this is congenital hypothyroidism. With early detection and successful treatment, the child should achieve full physical and mental development, leading to a healthy adult life. However, a missed diagnosis or lack of treatment may result in significant intellectual disability. Non-surgical treatments can also be used for some cosmetic disfigurements. Ear deformities are very common but rarely correct themselves. However, the use of ear moulding devices in new-born infants can reduce or even remove the need for surgical correction and its associated risks. 

For many congenital abnormalities, surgical intervention will be required. In the case of conditions such as congenital heart defects, successful surgery may be life-saving. For other defects, including cleft lip/palate, there is a marked reduction in associated morbidity and a significant psychological benefit to the patient. However, all surgical procedures carry risks. Although mortality rates are generally low, they do vary according to the condition being treated. For example, one study reported mortality rates of 0 for surgical treatment of spina bifida, hypospadias and clubfoot, but 9.7% for hydrocephalus. 

The timing of any planned surgical intervention must also be carefully considered. Any decision must take into account the current effect of the abnormality on function and appearance, and how this will be altered by the subsequent growth and development of the child. Usually, the most fundamental choice is whether to intervene early or to wait. Although there are some general guidelines, each patient should be considered on a case-by-case basis, particularly with regard to the aims of the procedure in terms of improvement of function and cosmetic appearance. For complex repairs, surgery may need to be delayed until the child’s body has developed sufficiently to provide enough suitable material for grafting or other reconstruction techniques. For example, the repair of ear deformities does not usually take place until the child is several years old, although cleft lip can be repaired shortly after birth. However, a delay in the correction of syndactylism can result in malformed and dysfunctional fingers, as well as social stigma. 

As many congenital abnormalities cannot be completely cured, prevention can be a useful strategy. Measures include vaccination against diseases known to cause birth defects, fortification of staple foods to ensure an adequate intake of folic acid or iodine before and during pregnancy, and adequate prenatal health care. For diabetic women, good control of their condition during pregnancy is vital: in mothers with poor control, the risk of birth defects in their offspring is 2–4 times higher, due to the effects of the disease on the developing foetus. Where relevant, genetic counselling also allows prospective parents to make better decisions about the risks associated with subsequent pregnancies. 

Further reading:

Corsello, G., & Giuffrè, M. (2012). Congenital malformations. The Journal of Maternal, Fetal & Neonatal Medicine, 25 Suppl 1, 25–29.

Sitkin, N. A., Ozgediz, D., Donkor, P., & Farmer, D. L. (2015). Congenital anomalies in low- and middle-income countries: the unborn child of global surgery. World Journal of Surgery39(1), 36–40.