Journal of Down Syndrome & Chromosome Abnormalities
Open Access

Testing on Down Syndrome

Olagunju Abdulrahmon^{* *}Correspondence: Olagunju Abdulrahmon, Faculty of Health Sciences, University of Kwazulu-Natal, Nigeria, Email:

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Introduction

Since 1968, when Nadler reported one of the earliest diagnoses of Trisomy 21 from cultured amniocytes, amniocentesis has been the first procedure for prenatal detection of Down syndrome. Merkatz and colleagues discovered a link between low levels of bethahoriongonadotropin and a high incidence of Down syndrome in 1984. That was the beginning of maternal Down syndrome screening, which used biochemical markers in the blood of pregnant women to assess the chance of Down syndrome. Since then, prenatal testing for Down syndrome has advanced significantly, with the launch of Non-invasive Prenatal Tests (NIPT) in August 2011 in Hong Kong and the United States. Prenatal screening and diagnostic testing for Down syndrome are now widely utilised and integrated into standard prenatal treatment for expecting women. NIPTs, which are aggressively provided by private firms, are meant to replace commonly done biochemical first and second trimester screening tests because to their great sensitivity [1]. Nonetheless, the issue remains whether women of reproductive age are aware of the benefits and limits of Down syndrome testing accessible from health care practitioners or direct-to-consumer firms. When compared to biochemical screening, NIPT has a better sensitivity and specificity. It is still used as a screening procedure, with a Chorionic Villus Sampling (CVS) or Amniocentesis performed following a positive result (AC) should be made available to verify the outcome. NIPT, on the other hand, might assist identify highrisk pregnancies and avoid more intrusive treatments with a higher risk of problems [2]. The advantages and disadvantages of each test are discussed during prenatal genetic counselling sessions, but not every woman in Bulgaria has access to such consultations with a medical genetics professional. Medical societies are aware of the many limits of various tests, but are women of reproductive age similarly knowledgeable and able to make an informed decision? As a result, the purpose of our study is to look at women's awareness of prenatal Down syndrome tests in Bulgaria [3].

Conclusion

The most crucial aspect of today's prenatal treatment is preventative medicine. Down syndrome screening tests are available in all nations with well-developed healthcare systems. However, the results of the study suggest that pregnant women in Bulgaria are unaware of the capabilities and limits of existing prenatal Down syndrome testing. They also point out that, in comparison to commonly done tests, there is a dearth of understanding regarding NIPT; nevertheless, as technology advances and costs fall, NIPT is projected to become the first choice test. Women should be better educated and counselled throughout their pregnancy appointments. Qualified obstetricians and medical geneticists should collaborate to develop a patient education programme in order to achieve this.

References

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