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Hormozgan University of Medical Sciences

Cell-free fetal DNA: new perspective and clinical implication in diagnosis of polycystic kidney diseases

(2014) Cell-free fetal DNA: new perspective and clinical implication in diagnosis of polycystic kidney diseases. Renal failure.

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Official URL: https://www.ncbi.nlm.nih.gov/pubmed/?term=Cell-fre...

Abstract

Initially, the existence of cell-free fetal DNA (cffDNA) in the blood of pregnant women was discovered in 1997 by Lo et al.1 During pregnancy, cffDNA could be passed through the placenta that circulates in the maternal blood.2 Generally, cffDNAs originated from trophoblast and fetus cells that undergo apoptosis and circulate in the maternal blood. Importantly, they could be detected from 5 to 16 weeks of gestation.3 However, with the discovery of cffDNA in the pregnant women serum or plasma, we are able to develop and improved noninvasive prenatal diagnosis (PND) approaches. Of note, currently, many works have been published in these fields which revealed very important clinical applications of cffDNA in PND, especially.4 Currently, we would like to express new point of PND, particularly in the urological disorders such as polycystic kidney diseases (PKD). PKD are considered as monogenic disorders characterized by the growth of numerous cysts in the kidneys, and affect �1–2 in 1000 people. Generally, there are two common features of PKD: autosomal dominant PKD (ADPKD) and autosomal recessive PKD (ARPKD). ADPKD is the most common form of PKD that results in mutations in PKD1, PKD2 genes and symptoms usually develop between the ages of 30 and 40 years, but they can begin earlier, even in childhood. While, ARPKD is a rare form of PKD that results in PKHD1 gene mutations and its symptoms begin in the earliest months of life, even in the uterus.5 Currently, there are several diagnostic imaging procedures widely used for the detection of the PKD. The most common approaches include computed tomography (CT scan), magnetic resonance imaging (MRI) and ultrasonography. 6 Ultrasonography imaging is a safe procedure and can be applied to cysts detection in the kidneys of a fetus but should be done in the second trimester of gestation. However, it is conceivable that PKD could be diagnosed in earlier stages of pregnancies. Therefore, cffDNA investigation can be applied as an alternative noninvasive prenatal diagnosis approach for the early detection of PKD.

Item Type: Article
Keywords: Cell-free fetal DNA
Subjects: QU Biochemistry. Cell Biology and Genetics > QU 300-560 Cell Biology and Genetics
Depositing User: مهندس هدی فهیم پور
URI: http://eprints.hums.ac.ir/id/eprint/4921

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