Abstract
Prenatal testing provides crucial information about the health status of fetuses as well as recommending better treatment. For the past decades, prenatal testing using chorionic villus sampling and amniocentesis were the two majorly used forms of invasive prenatal diagnostic approaches. However, to facilitate prenatal testing without causing any danger to the fetus, the noninvasive prenatal diagnostic method, which uses circulating cell-free deoxyribonucleic acid (DNA), has become a suitable method of prenatal diagnosis. This review discusses the recent bioinformatics approaches used for analyzing fetal DNA concentration.
Highlights
Prenatal testing is an eminent form of human prenatal care that is categorized into two types: (1) the prenatal diagnosis and (2) prenatal screening
Prenatal testing is commonly used to screen for chromosomal anomalies or genetic mutations, as well as neural tube defects that can potentially lead to a series of various genetic aberrations and other birth deformities such as spina bifida, anemia, Down syndrome, cystic fibrosis, thalassemia, and muscular dystrophy in viable fetuses.[1]
There have been various technological approaches and different bioinformatics algorithms developed for assessing circulating deoxyribonucleic acid (DNA)
Summary
Prenatal testing is an eminent form of human prenatal care that is categorized into two types: (1) the prenatal diagnosis and (2) prenatal screening. DNA is derived from cytotrophoblastic cell apoptosis at the fetal stage of development.[7] Besides, since the discovery of cell-free DNA, different prospective forms of noninvasive methods of testing including highly efficient separation and massively parallel technologies such as next-generation sequencing and whole genome approaches for the detection of fetal anomalies have been developed.[8] Unlike the previous invasive prenatal diagnostic approaches (chorionic villus and amniocentesis), the newly invented NIPT method of testing allows fetal tissue examination without any risk to the fetus.[1] for cfDNA-based NIPT method of testing, the quantity of fetal DNA sample present in the total cfDNA molecule obtained from pregnant women is expressed as the fetal fraction of the DNA, which is preeminent for the comprehensive performance of the NIPT analysis.[9] during NIPT analysis for aneuploidy, the extracted fetal DNA fraction from maternal plasma is inversely proportional to the degree or magnitude of chromosomal anomalies present in plasma of the expectant.[9] Noninvasive tests can be used to identify a fetus with monogenic diseases,[10] a group of genetic mutations in a single gene that can be inherited as autosomal recessive, autosomal dominant, or x-linked recessive, while in some minor cases, multiple mutations within a gene can cause the disease These genetic changes can occur in a spontaneous manner, even so within or between families without previous history of the disease.
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