Opinion Article - Journal of Chemical Technology and Applications (2022) Volume 5, Issue 4
A biochemical perspective on prenatal genetic testing.
Hendrik Keita*
Department of Biochemical Engineering, University of Pretoria, Hatfield, South Africa
- *Corresponding Author:
- Hendrik Keita
Department of Biochemical Engineering
University of Pretoria, Hatfield, South Africa
E-mail: hendrik.keita@up.ac.za
Received: 28-June-2022, Manuscript No. AACTA-22-69156; Editor assigned: 30-June-2022, PreQC No. AACTA-22-69156(PQ); Reviewed: 15-July-2022, QC No. AACTA-22-69156; Revised: 18-July-2022, Manuscript No. AACTA-22-69156(R); Published: 26-July-2022, DOI: 10.35841/aacta-5.4.116
Citation: Keita H. A biochemical perspective on prenatal genetic testing. J Chem Tech App. 2022;5(4):116
Prenatal genetic testing is used to screen for birth defects and genetic conditions in babies. This article will discuss genetic testing during pregnancy, giving an overview of the types of testing that can be done and the conditions under which they can be used. Prenatal genetic testing determines whether offspring are at risk of developing genetic or hereditary diseases.There are two categories of prenatal genetic testing: screening tests and diagnostic tests. Screening tests include prenatal cell-free DNA (cfDNA) screening, and blood draw tests such as maternal serum screening and carrier screening. These tests provide information only about whether there is a higher or lower risk of genetic disease and do not give a definitive yes or no answer. Diagnostic tests, on the other hand, provide a definitive answer as to whether genetic status or birth differences occur. This prenatal genetic testing includes sampling of the chorionic villus and amniocentesis. However, diagnostic tests can carry the risk of miscarriage, among other risks [1].
Pre-birth cell-free DNA screening may be a test that can be performed as early as ten weeks into pregnancy. A non-invasive prenatal genetic screening method has been commonly referred to as the new gender test in recent years. This type of screening detects cell-free DNA levels in pregnant women's blood. These are parts of DNA that are indistinguishable to that of the creating child. Right now, this can be the foremost precise screening test accessible and decides if a hereditary condition is less or more likely to happen within the infant. Cell-free DNA screening can distinguish conditions such as Down Disorder, trisomy 18, trisomy 13, and contrasts within the X and Y chromosomes. In spite of the fact that precise, it cannot distinguish all hereditary conditions or intrinsic inabilities. Some genetic conditions require two different genes to be expressed in a person. On the off chance that somebody has one quality but not the other, they are called carriers [2].
They have the genetic information needed to inherit the condition, but do not have it themselves. Carrier screening can detect this gene in the carrier and provide information on whether or not the child will develop the disease. If a person tests positive for the gene, partner screening can determine if there is an increased risk of the child developing the disease. This type of prenatal genetic test can help determine the risk of developing certain disorders. These disorders include cystic fibrosis, spinal muscular dystrophy, Duchene muscular dystrophy, Fragile X syndrome, and Tay-Sachs disease. Because carrier screening only searches for a limited number of genes, testing may still be a carrier of hereditary status. The result is negative. Amniocentesis is a non-invasive procedure that requires the removal of cells from inside the amniotic sac with a syringe after an ultrasound is performed. The small amount of fluid that was removed from the patient will be sent to a specialist laboratory for testing. The risk of amniotic leakage or miscarriage is very low with most amniocentesis procedures. Amniocentesis is a procedure that is used to test for certain conditions, such as Down syndrome, Trisomy 13, and differences in the X and Y chromosomes. It can detect open neural tube defects. The diagnostic test results are considered to be definitive. It cannot detect all congenital disabilities. The abortion procedure is usually done during the first 15 to 20 weeks of pregnancy [3,4].
Chorionic villus sampling (CVS) is used to test for certain chromosome conditions, such as Trisomy 18, Trisomy 13, Down syndrome, and more. Cells from the chorionic villi in the placenta are collected between 10 and 14 weeks pregnant, and contain the same genetic information as the fetus. The procedure is done through the mother's abdomen or cervix. Sometimes the genetic information in the chorionic villi will differ from the offspring, so further tests are needed in these cases. CVS is a diagnostic test that can confirm whether a genetic condition is present in a baby. Ultrasound can't always detect all congenital disabilities or genetic conditions. Prenatal genetic testing provides information on the likelihood of genetic conditions and congenital disabilities/differences in a baby during the early stages of pregnancy. It is additionally utilized to identify the sexual orientation of a child. Whereas no test is culminating, pre-birth hereditary testing can offer assistance guardians make educated choices on what activity to require in case an intrinsic inability or hereditary condition is recognized [5].
References
- Tamminga S, van Maarle M, Henneman L, et al. Maternal plasma DNA and RNA sequencing for prenatal testing. Adv Clin Chem. 2016;74:63-102.
- Song Y, Huang S, Zhou X, et al. Non-invasive prenatal testing for fetal aneuploidies in the first trimester of pregnancy. Ultrasound Obstet Gynecol. 2015;45(1):55-60.
- Cuckle H, Benn P, Pergament E. Cell-free DNA screening for fetal aneuploidy as a clinical service. Clin Biochem. 2015;48(15):932-41.
- Nesbitt V, Alston CL, Blakely EL, et al. A national perspective on prenatal testing for mitochondrial disease. Eur J Hum Genet. 2014;22(11):1255-9.
- Vermeesch JR, Voet T, Devriendt K. Prenatal and pre-implantation genetic diagnosis. Nat Rev Genet. 2016;17(10):643-56.
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