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New diagnostic methods for non-invasive prenatal diagnosis of sickle-cell anemia

Isil Uyanik, Yordan Slavov, Georgi Shopov, Aneta Angelova, Maria Levkova


Introduction: Sickle-cell disease is an inherited blood disorder. The pathology behind this disorder is the synthesis of abnormal haemoglobin protein. Due to the abnormal haemoglobin the blood cell`s shape is changed to a `C` like shape, this impairs the transport function and increases the chance of developing blood clots potentially leading to stroke. This disorder is inherited in an autosomal reces­sive pattern. There are several invasive methods that could be used to detect the disease prenatally, however due to their invasive nature they can be harmful for the fetus and the mother. This drawback has led to the development of several methods for non-invasive prenatal diagnosis (NIPD).

Materials and methods: The information for this scientific overview was gathered using the search engine of PubMed and Google scholar using the keywords: non-invasive, prenatal, diagnosis, sickle, cell, and anemia. The articles used in this review are all written after the year 2010 and have been pub­lished in peer review magazines.

Results: The NIPD is based on acquiring blood from the pregnant mother and isolating the cell-free fetal (cffDNA). Using this cffDNA we can implement different techniques such as digital polymerase chain reaction or pyrophosphorolysis-activated polymerization (PAP) assay to multiply the cffDNA and find out if the tested cffDNA has the necessary mutation to cause sickle-cell anemia.

Conclusion: Studies show that pregnant women have declined invasive prenatal diagnosis (IPD) be­cause they believe that it poses a risk for their child and have expressed their willingness to go with a more safe and easy testing method such as the NIPD. NIPD methods are cheaper, safer, more pre­ferred than IPD and have a success rate of about 98% when detecting sickle-cell anemia. Because of all these qualities they could become the leading way for diagnosis of sickle-cell anemia.


non-invasive; prenatal; diagnosis; sickle; cell; anemia



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