Birth Defects in Culture and Ethics
Although birth defects are seen in 7.6 million births each year (9), some are more commonly seen in births of certain ethnicities, from different cultures, and belonging to particular socioeconomic groups. Prevalence of and responses to congenital abnormalities are greatly influenced by their societal context. Because of differences in belief systems and laws, ethical debates regarding methods of dealing with children with birth defects, including genetic testing and counseling, prenatal screening, surgical intervention and abortion, are constantly occurring.
Tay-Sachs Disease
The defective gene responsible for Tay-Sachs Disease is most prevalent in parents of Ashkenazi Jew descent. About 1 out of 30 people in the Ashkenazi Jew population is a carrier of the disease, as compared to 1 out of 200 people in the general population (4). Those of French-Canadian, Pennsylvania Dutch, and Cajun descent are also likely to carry the affected gene (10). Despite these populations being at such high risk for conceiving a child with the fatal disease because of their genetic composition, the incidence of babies born with Tay-Sachs Disease has dramatically decreased since the 1970s with the increased use of universal genetic testing and counseling.
Genetic Counseling and Testing
Genetic counseling is defined as the giving of advice by a health professional to prospective parents about their chances of genetic disorders in a future child, as determined by genetic testing (5). Genetic testing involves the sequencing of the parents’ DNA in order to discover genetic differences, anomalies, or mutations that may prove pathological and possibly detrimental to the development and well-being of a child (6).
Genetic testing and counseling have slashed the incidence of Tay-Sachs among the Ashkenazi Jew population by more than 95% in the last 40 years (8). A particular genetic screening initiative is present in the Ashkenazi Jew community, spearheaded by the Dor Yeshorim Committee for Prevention of Genetic Diseases, based in Brooklyn and Israel. In 2003, only ten infants were diagnosed with the condition in the United States, none of them being Jewish, along with only one child diagnosed in Israel that same year (3). This decline in new cases is attributed to Dor Yeshorim’s routine genetic testing for couples of Ashkenazi Jewish descent; Jewish marriage customs make it highly likely that two carriers would bear children together, so prenatal screening is available for carriers who do decide to conceive children.
Genetic testing and counseling have slashed the incidence of Tay-Sachs among the Ashkenazi Jew population by more than 95% in the last 40 years (8). A particular genetic screening initiative is present in the Ashkenazi Jew community, spearheaded by the Dor Yeshorim Committee for Prevention of Genetic Diseases, based in Brooklyn and Israel. In 2003, only ten infants were diagnosed with the condition in the United States, none of them being Jewish, along with only one child diagnosed in Israel that same year (3). This decline in new cases is attributed to Dor Yeshorim’s routine genetic testing for couples of Ashkenazi Jewish descent; Jewish marriage customs make it highly likely that two carriers would bear children together, so prenatal screening is available for carriers who do decide to conceive children.
Prenatal Screening
A prenatal screening is one of many diagnostic procedures used to determine if a developing fetus has a genetic abnormality (11). To the right you can see the process of amniocentesis, which involves extracting amniotic fluid from the womb and testing the fetal cells’ DNA composition.
[Click on the diagram to enlarge it]
[Click on the diagram to enlarge it]
However, the use of genetic testing/counseling and prenatal screening is considered to be both a blessing and a curse. Universal genetic screening is feared by experts in ethics to be the start of a troubling era where individuals receive information they either may not be fully educated about (therefore leading to misunderstanding) or may not be prepared to handle about diseases that may or may not prove to be deadly (8). The knowledge gained from genetic screenings may lead to the parents to make decisions regarding abortion, a highly debated procedure that will be covered later in this section since its use and implications applies to all birth defects.
Another major ethical issue of Tay-Sachs involves the end of life care of the child, since the disease is fatal. Many question the ethicality of artificially sustaining life for the child once they have begun succumbing to the disease. This same debate occurs in all types of medical conditions (such as those affecting the elderly, like Alzheimer’s Disease), but it is heavily considered when the patient is so young. It is widely agreed that the child should be cared for with the utmost love and support and given the fullest life he or she can experience in their short lifetime (4).
Another major ethical issue of Tay-Sachs involves the end of life care of the child, since the disease is fatal. Many question the ethicality of artificially sustaining life for the child once they have begun succumbing to the disease. This same debate occurs in all types of medical conditions (such as those affecting the elderly, like Alzheimer’s Disease), but it is heavily considered when the patient is so young. It is widely agreed that the child should be cared for with the utmost love and support and given the fullest life he or she can experience in their short lifetime (4).
Fetal Alcohol Syndrome
Worldwide, the incidence of Fetal Alcohol Syndrome (FAS) is about 2 per 1000 live births (9). Teratogen-induced birth defects like Fetal Alcohol Syndrome are more common in middle- and low-incomes communities and countries due to poverty, maternal malnutrition, and lack of availability of health care. In the more industrialized nations, an estimated 5-10% of all birth defects are of post-conception origin, while the estimate for lower-income countries is higher at 10-15% (7). It is worth noting that the statistics for incidence of FAS are difficult to definitively state because of problems in accurately identifying and reporting FAS, with its hallmark facial features being hard to ascertain and the mental retardation associated with it not being detectable until several years after birth (1). The highest incidence of FAS in the United States has been found to be among women of Native American tribes, specifically the Apache and Ute tribes (1). These tribes have been found to encourage solitary drinking and risk taking, behaviors which may hold true even when a woman is pregnant. The Native American population is widely known to suffer from alcoholism in general.
The ethical debate surrounding FAS is not necessarily in the treatment of it, but rather in the development of it. FAS is a unique condition in that it is solely caused by the mother’s consumption of alcohol, and it is entirely preventable. Alcohol consumption may take place while the mother does not know she is pregnant or while she is fully aware of her pregnancy but chooses to drink anyway. In the United States, alcoholic beverages have mandatory labels stating the Surgeon General’s warnings against consuming alcohol while pregnant, and many public places like bars and restaurants clearly post signs advising pregnant patrons to abstain from alcohol because of its detrimental effects to the fetus.
The ethical debate surrounding FAS is not necessarily in the treatment of it, but rather in the development of it. FAS is a unique condition in that it is solely caused by the mother’s consumption of alcohol, and it is entirely preventable. Alcohol consumption may take place while the mother does not know she is pregnant or while she is fully aware of her pregnancy but chooses to drink anyway. In the United States, alcoholic beverages have mandatory labels stating the Surgeon General’s warnings against consuming alcohol while pregnant, and many public places like bars and restaurants clearly post signs advising pregnant patrons to abstain from alcohol because of its detrimental effects to the fetus.
Cleft Lip and Cleft Palate
Although their exact roots are inconclusive, cleft lip and cleft palate are more likely to be found in Native American (3.6 per 1000 live births) and Asian (2 per 1000 live births) populations in the U.S. African Americans are least likely to be affected by cleft palate or cleft lip, with a birth prevalence of 0.3 per 1000 live births (1). Unlike Tay-Sachs and FAS, babies with cleft lip or cleft palate have the full potential to grown up and experience healthy lives even with their congenital abnormality. However, without surgical intervention, feeding, speech, hearing, and psychosocial problems are prevalent in children growing up with a cleft palate, with these consequences being most prevalent in low-income areas where surgery cannot be afforded (1).
Surgical Intervention
While each case of cleft lip/palate is unique, the images to the right depict the general surgical method for repairing the cleft. Surgery has risks (like anesthesia complications, bleeding problems, and infection) no matter what the procedure entails, so surgical intervention is sometimes frowned upon for a problem that is not life-threatening or when it is performed at too young of an age.
Despite great advances in biomedical technology and surgery, 26 pregnancies of fetuses found to have cleft lip or cleft palate were aborted in 2011 in the United Kingdom. Scroll through the article about it below:
Despite great advances in biomedical technology and surgery, 26 pregnancies of fetuses found to have cleft lip or cleft palate were aborted in 2011 in the United Kingdom. Scroll through the article about it below:
Abortion
Perhaps the largest and most contentious area of ethical debate regarding birth defects is abortion. Abortion is the deliberate termination of pregnancy, carried out through a number of varied procedures involving removing the fetus from the womb (2). In the scenario of Tay-Sachs Disease, abortion is widely seen in affected communities as being the only “cure” for the condition - by not birthing the fetus at all. However, abortion may be against personal opinion or religious beliefs, especially in the cases of those of Ashkenazi Jewish origin.
Questions of when life begins and the ethics of terminating a pregnancy with a birth defect are constantly raised, most notably in legislation. The debate is ongoing all over the world; below is a map of the United States’ legislative positions on abortion by state as of 2006:
Questions of when life begins and the ethics of terminating a pregnancy with a birth defect are constantly raised, most notably in legislation. The debate is ongoing all over the world; below is a map of the United States’ legislative positions on abortion by state as of 2006:
Critical Thinking Questions
1. Genetic testing and counseling, as well as prenatal screenings, are considered to be both a blessing and a curse due to an ethical fear that an era would emerge in which people would receive information that they would not be fully educated about, thus leading to misunderstandings. What steps do you think would be important and necessary to take in order to alleviate these misunderstandings, so as to ensure that the use of these methods would serve only as a benefit with minimal risks? Be detailed in your answer.
2. Given that there are many notices for mothers with regards to alcohol consumption during pregnancy, including labels on beverages with warnings from the Surgeon General, what other steps and methods of prevention or informing mothers do you think could and should be developed in order to further inform and assist in educating pregnant women on the dangers of alcohol consumption? Again, be detailed and thorough in your answer.
2. Given that there are many notices for mothers with regards to alcohol consumption during pregnancy, including labels on beverages with warnings from the Surgeon General, what other steps and methods of prevention or informing mothers do you think could and should be developed in order to further inform and assist in educating pregnant women on the dangers of alcohol consumption? Again, be detailed and thorough in your answer.
References
- Abel, Ernest, and Robert Sokol. "Incidence of Fetal Alcohol Syndrome and Economic Impact of FAS-related Anomalies." Drug and Alcohol Dependence 19.1 (1987): 51-70. ScienceDirect. Web. 1 Dec. 2012. <http://www.sciencedirect.com/science/article/pii/0376871687900871>.
- “Abortion.” The New Oxford Dictionary. 3rd ed. 2005. Print.
- "Company Developing Universal Genetic Tests Based On The Dor Yeshorim Concept."VosIzNeias.com. N.p., 7 Feb. 2010. Web. 30 Nov. 2012. <http://www.vosizneias.com/48829/2010/02/07/redwood-city-ca-california-company-developing-universal-genetic-tests-based-on-the-dor-yeshorim-concept/>.
- Ehrlich, Kenny. "Maximizing Quality of Life for Children with Tay-Sachs Disease." Nurse.com. 13 Aug. 2007. Web. 30 Nov. 2012. <http://news.nurse.com/apps/pbcs.dll/article?AID=2007708080307>.
- "Genetic counseling." The New Oxford Dictionary. 3rd ed. 2005. Print.
- "Genetic testing." The New Oxford Dictionary. 3rd ed. 2005. Print.
- Howson CP, Christianson AC, Modell B. 2008. “Controlling Birth Defects: Reducing the Hidden Toll of Dying and Disabled Children in Lower-Income Countries.” Disease Control Priorities Project (DCPP), Washington, DC. <http://www.dcp2.org/file/230/dcpp-twpcongenitaldefects_web.pdf>.
- Kolata, Gina. "Using Genetic Tests, Ashkenazi Jews Vanquish a Disease." New York Times. 18 Feb. 2003. Web. 30 Nov. 2012. <http://www.nytimes.com/2003/02/18/science/18DISE.html>.
- Lobo, Ingrid, and Kira Zhaurova. "Birth Defects: Causes and Statistics." Nature.com. Nature Publishing Group, 2008. Web. 30 Nov. 2012. <http://www.nature.com/scitable/topicpage/birth-defects-causes-and-statistics-863>.
- Marshall, Sarah and Siobhan M. Dolan. "Tay-Sachs Disease." Cigna.com. Cigna, 6 Sept. 2011. Web. 30 Nov. 2012. <http://www.cigna.com/individualandfamilies/health-and-well-being/hw/medical-topics/tay-sachs-disease-hw182975.html>.
- "Prenatal screening." WordNet 3.0, Farlex clipart collection. 2003-2008. Princeton University, Clipart.com, Farlex Inc. 1 Dec. 2012http://www.thefreedictionary.com/Prenatal+screening