New Finding That Testing Could Identify Defects in Fetuses Is a Genetics Baby Step

Abstract

The paper summarizes the article “New Finding That Testing Could Identify Defects in Fetuses Is a Genetics Baby Step” by Kent Sepkowitz. It was published in June 2012 edition of The Daily Beast, Newsweek. The author summarizes a new scientific research from Sepkowitz (2012) article conducted by researchers to identify the “point mutations” which are the marked abnormalities carried by the double helix DNA of the fetus. The context of the article also describes various other scientific approaches for the detection of genetic defects and also highlights the land mark achieved by the group of researchers.

Keywords: Genetic defects, point mutations, new research, Kent Sepkowitz

New Finding That Testing Could Identify Defects in Fetuses Is a Genetics Baby Step

“Genetic defect” is certainly one of the most horrifying news for the parents to know about their babies to born. In United States, 1% of the new born babies are reported to have apparent genetic disorders which are visible at the time of birth, these genetic defects includes Down Syndrome also called Trisomy 21 which is very common to the most inexplicable defect called as Ichthyosis expressed in “New Finding That Testing Could Identify Defects in Fetuses Is a Genetics Baby Step” written by Kent Sepkowitz for The Daily Beast, Newsweek in June 2012.

Genetic medicine is the branch of genetics which includes the study of these genetic disorders at a very early stage so that the couples can decide that whether they should plan a baby or not. The goal of genetic medicine is to identify the causes leading to these disorders and devise the possible treatments to fix them to a greater extent even before the baby is born.

As published in medical journal “Science Translational Medicine” and also reported by “The New York Times, the researchers have retrieved the complete genetic order of a fetus without drawing the sample from the real fetus sample. In this article, Sepkowitz (2012) reported that they have also identified many of the “point mutations” which are the marked abnormalities or genetic defects carried by the double helix spiral and these point mutations lead to the clinical anomalies.

In advanced researches this is taken a novelty as the sample is the mother's blood and saliva of the father from which the required information is collected. The sample of the mother's blood contains large quantities of free cell DNA of the fetus. In this way no sampling is done directly from the fetus. The previously employed methods for this purpose used invasive means like Chorionic villous sampling or abbreviated as CVS. In this method the placenta was undertaken for a biopsy procedure. The procedure is comparatively safer than the previous as it carries less risk to the fetus and there are minimal chances of fetus loss. Amniocentesis is another approach to detect the fetal genetic defects in late pregnancy which carries more complications, high risk of fetal loss and the decision to terminate pregnancy ...