PREVENTING BIRTH DEFECTS, Possibilities And Limitations
- Polelo Mawela
- Mar 3, 2023
- 4 min read
Birth defects which are also referred to as congenital disorders are abnormalities of structure or function that are present from birth (Lebese, Aldous & Malherbe, 2016). These abnormalities can be detected intrauterine, at birth or later on in development (Aliyu, 2021). Birth defects account for 240 000 new-born deaths annually, furthermore, 170 000 children between 1 month and five years die from birth defects (WHO, 2022).
Birth defects are a leading cause of death for infants and young children globally. Those who survive and live with these conditions are at increased risk for lifelong disabilities (CDC, 2022). It is estimated that 150 000 children born annually in South Africa are affected by a significant birth defect or genetic disorder by the age of five years. Globally, the most common severe birth defects are heart defects, neural tube defects and Down syndrome (WHO, 2022). In South Africa, the most common birth defects are:
Albinism
Downs Syndrome
Foetal Alcohol Syndrome (FAS)
Neural tube defects (spina bifida) (Western Cape Government, 2022)
Birth defects are a consequence of socio-economic and demographic factors, environmental factors, genetic factors and unknown causes (WHO, 2022). Ninety-four percent of children with birth defects are born in low and middle income countries and 95% of those who die as a result of birth defect also born there (Aliyu, 2021: WHO, 2022 ). Low and middle income countries carry this burden as a result of poverty. Women of childbearing age in low and middle income countries commonly lack access to sufficient nutritious foods, have an increased exposure to harmful agents or factors such as infection and alcohol (WHO, 2022). In such settings, pregnant women receive minimal to no antenatal care as a result of an incapacitated healthcare system (Aliyu, 2021).
Most birth defects are said to be preventable. In South Africa, 70% of the birth defects are preventable and treatable (Dalana, 2019). Birth defects of a genetic nature cannot be prevented however; those that are caused by environmental or socio-economic factors can be avoided. Prenatal care and awareness of past or current conditions can help with prevention (Kancherla, 2022; Baschat, 2023).
Taking prenatal vitamins such as folic acid for women of reproductive age, as well as avoidance of alcohol, tobacco and illegal drugs when actively trying to conceive or during pregnancy is recommended in the prevention of birth defects (Baschat, 2023). Enclosing all past details of pregnancy and birth defects can also be useful in preventing birth defects i.e. If a previous pregnancy had spina bifida, a high dose of folate can help prevent future spina bifida (Baschat, 2023). Pregnant women should have regularly for prenatal care. Even before pregnancy, proper healthcare can help prevent birth defects and other poor outcomes. Maintaining a healthy weight and controlling diabetes if you have it can help in prevention of birth defects (CDC, 2022).
Genetic counselling can also be used as a preventative measure albeit carries ethical/moral issues (SA Government, 2023). Genetic counselling is defined as a communication process in the possibility of given genetic disorders are being discussed with patients based on their genetics. The process comprehension of medical facts, diagnosis, prognosis and management; appreciation of the genetics of the disorder and risk of recurrence in relatives; understanding the options for dealing with the risk of recurrence; choice of an appropriate course of action in view of the risks and family goals; and making of the best possible adjustment to the disorder within the family (SA Government, 2023).
Difficult ethical issues arise for patients and professionals in genetic counselling, and often relate to the patient’s family or their social context (Clarke, & Wallgren-Pettersson, 2019). One of the most difficult ethical concerns that arise is that of being given or having the option to terminate a pregnancy because of a detected birth defect that is of a genetic nature (SA Government, 2023). Tackling these issues requires sensitivity to nuances of communication and a commitment to clarity and consistency. It also benefits from an awareness of different approaches to ethical theory. Many of the ethical problems encountered in genetics relate to tensions between the wishes or interests of different people, sometimes even people who do not (yet) exist or exist as embryos, either in an established pregnancy or in vitro.
Concern for the long-term welfare of a child or young person, or possible future children, or for other members of the family, may lead to tensions felt by the patient (client) in genetic counselling (Clarke, & Wallgren-Pettersson, 2019). Recent developments of genetic technology permit genome-wide investigations. Genetic counselling can leave practitioners as well as patients of given religious affiliations conflicted. In trying to prevent birth defects through genetics an unforeseen consequences of an ethical dilemmas has confronted both health professionals and patients. And so in such cases we ask, what is more harmful? Terminating a pregnancy that has genetic abnormalities or allowing it to come to term?
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Writer: Hlengiwe Selowa
Reference
Aliyu, L. D. (2021). Fetal Congenital Anomalies in Africa: Diagnostic and Management Challenges. In Congenital Anomalies in New-born Infants-Clinical and Etiopathological Perspectives. IntechOpen.
Baschat, A.A. (2023). Preventing and Treating Birth Defects: What You Need to Know. John Hopkins Medicine.
Clarke, A. J., & Wallgren-Pettersson, C. (2019). Ethics in genetic counselling. Journal of Community Genetics, 10(1), 3-33.
Dalana, A. (2019). Half of birth defects are preventable. Health-e-news: Journalism for Public Health.
Kancherla, V., Botto, L. D., Rowe, L. A., Shlobin, N. A., Caceres, A., Arynchyna-Smith, A., & Berry, R. J. (2022). Preventing birth defects, saving lives, and promoting health equity: an urgent call to action for universal mandatory food fortification with folic acid. The Lancet Global Health, 10(7), e1053-e1057.
Lebese, V., Aldous, C., & Malherbe, H. L. (2016). South African congenital disorders data, 2006-2014. South African Medical Journal, 106(10), 992-995.
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