Noninvasive Prenatal Testing from Basic knowledge to Clinical Applications: Review of Literature; An Overview and Guidelines

Document Type : Review articles

Authors

1 Prenatal diagnosis and Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre Cairo,

2 Clinical Genteics Department. Human Genetics and Genome Research Institute, National Research Centre Cairo, Egypt

3 Medical Molecular Genetics Department. , Human Genetics and Genome Research Institute, National Research Centre Cairo, Egypt.

Abstract

Cell-free fetal DNA (cffDNA) examination is an important non-invasive prenatal diagnostic tool playing an important part in screening of chromosomal or monogenic diseases in fetus. It includes fetal DNA recognition in maternal main bloodstream. It can be examined starting from four to six weeks of pregnancy. Invasive procedures are not manageable in some circumstances. Novel methods with noninvasive procedure are highly necessary at that time. Noninvasive techniques are preferred due to it is simple and easy technique. In addition, it is preferred due to its availability, via quantifiable detection or precise sequencing. Maternal plasma placenta derived cffDNA sequencing has progressed from a research project to be implemented into clinical care. The clinical use of cffDNA sequencing for chromosomal aneuploidy screening has by now has an international impact, motivated by pregnant women's need for safer prenatal screening. NIPT only is able to test specific conditions, according to type of NIPT used.

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