Abstract

Clinical procedures that took both time and effort in terms of prior diagnosis are being aided by technology and significant advancements in recognizing and predicting outcomes long before they actually take place. The aim of prenatal diagnosis is to detect fetal structural and genetic abnormalities. That is why it is possible to talk in the unborn fetus about preventing and detecting inherited and congenital illnesses. The most comprehensive and intrinsic makeup shared by all and therefore a vital subject to comparative analysis even before birth is the unmistakable nucleotide sequence that directs all physical and chemical changes. Amniocentesis involves taking out a small sample of amniotic fluid from the sac surrounding the fetus and analysis of its composition, so in essence genetic amniocentesis refers to examination of genetic abnormalities that might be prevalent in the developing fetus This permits taking decisions concerning about the progress of pregnancy to be made before viability. Comparatively less commonly, amniocentesis is performed in the beginning of third trimester instead of earlier testing. Advanced genomic study technologies such as Chromosomal Microarray Analysis (CMA) provide much more accurate and detailed information about the fetus. The ideal site for amniocentesis for localization should be determined by an ultrasound scan but in the absence of this facility, a site may be selected after careful palpation of the gravid uterus. Trisomy, Micro deletions/ micro substitutions can be detected by genetic amniocentesis. Fluorescence in Situ Hybridization is a dependable and brief technique for identifying maximum chromosomal variations and has now been carried out as a routine symptomatic strategy for the discovery of fetal irregularities.

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