Down Syndrome: Pathological, Clinical Manifestations, and Treatment of the Condition – Genetics&Birth Defects Example

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"Down Syndrome: Pathological, Clinical Manifestations, and Treatment of the Condition" is a great example of a paper on genetics and birth defects. This paper aimed at conducting a literature review of Down syndrome with a significant emphasis on the pathological, clinical manifestations, and treatment of the condition. The first question of this study aims to identify the most effective prenatal diagnosis for mothers with Trisomy 21. Before 1985, maternal age alone was used as a primary screening test with later advances in screening methods such as ultrasound, CVS, amniocentesis, and maternal serum screening (Weichert, 2017; Rudolf et al. , 2017; Kazemi, Salehi, & Kheirollahi, 2016; & Asmin et al. , 2015).

In 2012, 46% of all prenatally diagnosed fetuses with trisomy 21 were identified because of advanced maternal age, followed by the combined screening tests and 16% of the anomalies detected by ultrasound (Rudolf et al. , 2017& Smith and Visootsak, 2013). CVS and amniocentesis are considered as the most effective techniques with a positive detection rate of 99.2% for trisomy 21 and miscarriage rate of 0.5% to 1% which is statistically insignificant as compared to maternal serum screening with a 75% positive detection rate for women younger than 35 years and 80% for women above 35 years (Kazemi, Salehi, & kheirollahi, 2016; Smith & Visootsak, 2013; & Alfirevic, Navaratnam, & Mujezinovic, 2017). Down syndrome is a complex genetic disorder with debilitating effects caused by chromosomal abnormalities.

From the selected studies, the prevalence rate is ranging from 1 in 319 and 1 in 1000 live births (Wiseman et al. , 2009). However, there are some differences in the occurrence rates in different studies I in 400-1500 live births (Kazemi, Salehi, & Kheirollahi, 2016) and 1 in 700 live births ( Ruparelia et al. , 2010).

The major pathological cause identified in the study is an extra copy of chromosome 21 in the affected people (Ruparelia et al. , 2010 and Plaiasu 2017). Several risk factors are related to the DS, including increased maternal age reported in about 90% of the cases and DYRK1A phenotypes mainly caused by duplication of the DSCR region (Plaiasu, 2017 & Ruparelia et al. , 2010). Some of the identified phenotypes associated with chromosomal abnormalities include impaired dendritic growth by disturbing neuron-sensitive silencer factor (REST/NRSF) levels, leukemia, cardiac defects (Kazemi, Salehi, & Kheirollahi, 2016).

Consequently, the pathogenesis of DS involves three cytogenetic forms, including trisomy 21 causes 95% of the cases, translocation 3%, and mosaicism 2% (Kazemi, Salehi, & Kheirollahi, 2016). Limitations 1. The evidence of pathophysiology and diagnosis of Down syndrome comes from the available literature. However, this study is limited by the lack of quality evidence found on the topic in question. 2. The results of this study cannot be generalized, as this study performed a modified PRISMA methodology.

Such a modification may have left some studies out. 3. This study did not take into consideration the inclusion and exclusion criteria. 4. This study did not take into consideration raw data from the studies. Recommendations based on the literature 1. In the clinical diagnosis of trisomy 21, CVS and Amniocentesis techniques should be utilized 2. Though evaluation of prenatal diagnosis should be done before introducing new methods into clinical practice 3. The measure of outcome for the prenatal diagnosis should include diagnostic accuracy, total neonatal and antenatal pregnancy loss, and mothers’ views of the alternative procedures 4.

Advancements in research are instrumental in identifying the molecular mechanisms that cause the underlying phenotypes resulting in useful therapeutic intervention 5. Newborns suspected of DS should have karyotyping done to confirm the diagnosis and parents also need a referral to a clinical geneticist for genetic testing and counseling This study examined the topic of diagnosis and management of Down syndrome. Two research questions were assessed. The study on research question one found that the most significant aspect is related to prenatal diagnosis of women with trisomy 21.

The study on research question two found that the most significant aspect is related to chromosomal abnormalities of patients with trisomy 21. Further research on the topic of Pharmacotherapy of Down syndrome is further warranted.

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