Down syndrome is associated with a chromosomal abnormality that causes congenital malformations as well as intellectual and physical developmental issues in newborns. Such abnormalities appear to be common in human reproduction and as they relate to Downs syndrome, abnormalities are referred as autosomal aneuploidy, meaning they do no relate to sex chromosomes (Shalaby, 2011). Specifically, the cause of Down syndrome has to do with additional genetic material from chromosome 21, where three instances of the chromosome are identified when there are normally two (Sheets, et al., 2011).
What remains as the predominate risk factor associated with Down syndrome is the age of the mother at the time of conception, where the older a female becomes the inherent risk associated with conceiving a child born with Down syndrome increases as well (Shalaby, 2011). However, recent efforts have uncovered a range of other potential risk factors associated with the mother as well as with other issues. For example, a woman at the age of 40 is more likely than one who is 25 to give birth to a baby having Down syndrome.
The first has to do with consanguinity, referring to a pregnancy resulting from sexual relations between family members (cousins, uncle/aunt). Secondly, there also appears to be a high correlation between the risk of Down syndrome and living in rural environments (Shalaby, 2011). A mother regularly exposed to environmental toxins or is a drug abuser significantly increases the risks of bearing a child with Down syndrome. It appears that the level of education of the mother as well as the father plays a role in increased risks. A mate who smokes or regularly consumes coffee, or both, also increases the risks associated with Down syndrome; and whether the mother has experienced past stillbirths or abortions also appears to increase the risks associated with babies born with Down syndrome (Shalaby, 2011). Lastly, mothers who in the past have not accessed prenatal screening are at significantly higher risk of having a baby born with Down syndrome (Shalaby, 2011).
The National Society of Genetic Counselors (NSGC) has provided health care professionals with guidelines addressing the needs and concerns of parents who are posed with a child being born with Down syndrome. In the case of Mr. S.J. and his question pertaining to why Down syndrome was identified and what this means in terms of the future, the NSGC suggests that both parents be informed at the time of diagnosis and, when confronted with parents whose primary language is not English, offer the services of a medical interpreter so that they better understand the nature of what is being presented to them (Sheets, et al., 2011). Assuming that a nurse will in fact discuss the issue with Mr. S.J. and his wife, it is also advisable that an assessment be conducted to better understand the parents’ emotional and intellectual states at that time.
Perhaps the most important information provided during this encounter relates to up-to-date medical and scientific data on Down syndrome, which is required by The Prenatally and Postnatally Diagnosed Conditions Act of 2008 (Sheets, et al., 2011). The parents would then need to know issues related to how Down syndrome occurs; the range of intellectual disabilities (mild to moderate); associated potential medical issues such as heart defects; how children with Down syndrome are more like other children than they are different; Down babies and children require additional care; they may participate in recreational and sporting activities; and will also have employment and independent living opportunities at the appropriate ages (Sheets, et al., 2011). Of course, much more information should be forthcoming during later appointments, however the parents should also be provided with a range of informational and community resources in which to access during the term of the pregnancy, as well as beyond.