Down Syndrome: Congenital Heart Disease and Prenatal Testing

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Table of Contents

Introduction
Chronic Health Conditions and Cognitive Deficits
Down Syndrome and Congenital Heart Disease
Prenatal Testing for Down Syndrome
Pregnant Women’s Attitudes and Decision-Making
Conclusion
References

Introduction

Down syndrome appears to be the most widespread human chromosome disorder. It is associated with multiple problems connected with cognitive abilities and chronic health conditions. In addition, in the context of the present-day developments, the possibility to detect a free-cell fetal DNA stays extremely relevant, and new suggestions in this regard are introduced. For this reason, pregnant women need more assistance and useful scales, which are highly likely to provide the essential help in conducting the most rational decision. For this reason, modern scientists attempt to research multiple issues connected with the presence of Down syndrome, from its detection to minimizing its negative consequences on further life. Therefore, the purpose of this paper is to review the recent publications on Down syndrome, outline key questions, and supply modern solutions in case it is possible.

Chronic Health Conditions and Cognitive Deficits

Patients with revealed Down syndrome are highly likely to have a range of chronic health conditions. However, the question of their influence on cognitive ability still stays unanswered. A group of researchers, Gandy et al., explore this issue in the article The Relationship between Chronic Health Conditions and cognitive Deficits in Children, Adolescents, and Young Adults with Down Syndrome: A Systematic Review. Its objective is “to assess this relationship by evaluating studies that measure cognitive performance in the context of Down syndrome-associated chronic health conditions” (Gandy et al., 2020, p. 1). The research includes participants of different ages, namely children, adolescents, and young adults with Down syndrome, and involved quantitative studies, the number of which comprised 15 items. Furthermore, the conclusions regard both chronic health conditions and cognitive abilities. The study revealed the connection between sleep disorder and cognitive dysfunctions and the presence of Down syndrome. Such patients have problems with attention, verbal processing, and execution, and they may be aggravated by sleep disorders. Therefore, it is important to take appropriate actions at the early stages to prevent adverse cognitive outcomes.

Down Syndrome and Congenital Heart Disease

Approximately half of the patients with Down syndrome have congenital heart disease (CHD), and the complete atrioventricular septal defect is the most widespread. Children, who are not diagnosed with CHD, have significantly better outcomes. The same tendency is characteristic for the patients, who addressed this problem at early stages. Islam et al. (2020) state:

“Some reported increase mortality rates, length of hospital stay, and morbidities such as duration of ventilation and infection rates, whereas others suggested similar or improved outcomes for patients with Down’s syndrome who underwent atrioventricular septal defect repair” (p.35).

The studies on the consequences of congenital heart surgery are conflicting, so the article Down’s Syndrome with Congenital Heart Disease: Our Surgical Experience is aimed to clarify this issue. It is based on the surgery practice of the authors and analysis of patients’ outcomes. The study reveals that CHD appears to be the primary reason for morbidity and mortality. Congenital Heart Surgery contributed to the solution to this problem and supplied better outcomes with a satisfactory level of morbidity and mortality.

Prenatal Testing for Down Syndrome

At the end of the last century, the possibility to analyze fetal DNA and detect a free-cell one, which appears in the maternal bloodstream, was applied to the practice. This approach is highly likely to be accurate for revealing Down syndrome in the fetus. In addition, this methodology may be considered more advantageous compared to the first trimester combined screening, as it implies minimization of miscarriages due to the non-invasive nature. Thus, prenatal testing for Down syndrome implication in standard NHS practice is perspective in the long run. For this reason, Bills et al. (2016) published the article Non-invasive Prenatal Testing for Down Syndrome in General Maternity Services. It is devoted to multiple issues connected with this approach.

The researchers provide a comparison between the first trimester of combined screening and non-invasive prenatal testing (NIPS). The latter implies significant advantages, such as a more accurate detection (99,2 %), “low false-positive rates (0,09%), non-invasive nature, and ability to reveal other syndromes (Bills et al., 2016, p. 557). However, there are some “special patient groups”, such as obese pregnant women, in whom the results may not be fully validated (Bills et al., 2016). In addition, the test may be conducted from 11 weeks gestation, and the process of additional testing and decision-making may endure to 15 weeks, which is an advanced gestational age (Bills et al., 2016). Moreover, there is a question regarding which health care specialists should deliver the counseling and conduct NIPS to match high standards (Bills et al., 2016). Thus, the method is progressive and highly likely to be beneficial in the long run, though it is crucial to address the issues mentioned above.

Pregnant Women’s Attitudes and Decision-Making

A limited amount of literature describes both how the Down syndrome diagnosis is established and how the decision is conducted by pregnant women, which incurs the impact of the social context, social media, and family. The article Pregnant Women’s Attitudes and Decision-Making Regarding Prenatal Down Syndrome Screening and Diagnosis: Scale Development and Validation is aimed to fill this gap. Its purpose is to “test the validity and reliability of a scale that measures pregnant women’s attitudes and decision-making concerning prenatal Down syndrome screening and diagnosis in urban areas of Taiwan” (Huang et al., 2020, p. 1). The study proved that the scale is valid and reliable enough to comprehend pregnant women’s attitudes and the process of conducting decisions on the question of Down syndrome screening and diagnosis. In addition, it appears to help establish appropriately tailored consultations for these women in clinics.

Apart from the aforementioned use, the scale can be applied for designing tailored messages needed in the process of decision-making. Huang et al. highlight: “using the scale in a clinical setting can provide healthcare providers to understand pregnant women’s attitudes and decision-making process before using decision aid tools” (2020, p. 8). Therefore, it presents a sufficient option, which may significantly contribute to reaching the most rational solution.

Conclusion

In conclusion, it should be mentioned that a great number of innovations and explorations are advanced in the field of Down syndrome research. Some of them do not provide a solution, which is effective in 100% of cases, though they significantly contribute to the improvement of the current situation and lead to a better lifestyle. In addition, some of the innovations in case of further adjustments and improvements may be beneficial in the long run and highly likely to provide the best possible options, which minimize the negative consequences. However, it is crucial to take all the details and specialties into consideration.

References

Bills, V., Ford, J., Duffner, A., & Soothill, P. (2016). Non-invasive prenatal testing for Down syndrome in general maternity services. British Journal of Midwifery, 24(8), 556-561. Web.

Gandy, K. C., Castillo, H. A., Ouellette, L., Castillo, J., Lupo, P. J., Jacola. L. M., Rabin, K. R., Raghubar, K. R., & Gramatges, M. M. (2020). The relationship between chronic health conditions and cognitive deficits in children, adolescents, and young adults with down syndrome: A systematic review.PLoS ONE, 15(9), 1-13. Web.

Huang, W.-H., Shih, S.-F., Lin, C.-L., & Liu, C.-H. (2020). Pregnant women’s attitudes and decision-making regarding prenatal Down syndrome screening and diagnosis: Scale development and validation.BMC Pregnancy and Childbirth, 20(407), 1-9. Web.

Islam, M. Z., Jahan, S. I., Moinuddin, S., Rushel, K. S. S. Z., Islam, S., Islam, F., Hasan. K. A. (2020). Down’s syndrome with congenital heart disease: Our surgical experience.Cardiovascular Journal, 13(1), 35-39. Web.

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