Abstract
Chromosomal disorders arise from errors in cell division and many are detected during prenatal development. Prenatal genomic screening techniques involve invasive methods such as chorionic villus sampling and amniocentesis. In this feature, current invasive techniques for genetic screening will be examined in relation to the development of non-invasive prenatal technology. As cell-free fetal DNA methods continue to develop and be integrated into clinical practice, there is an opportunity for improvement in the detection and reliability of the screening process. In clinic, there are disparities between clinicians and patients surrounding both understanding of the processes and the discussion on the technique limitations. Non-invasive methods are continually being improved for detecting genetic disorders through the use of cell-free fetal DNA, and with these advancements, these processes will become safe, cost-effective, and reliable for pregnant mothers when undergoing genetic screening and counselling.
Highlights
Chromosome disorders, involving portions of chromosomes altered by mistakes in cell division, are widely prevalent and affect approximately 1 in 250 people.[1,2] During meiosis, nondisjunction occurs when two of the same sister chromatids or homologues fail to separate, resulting in doubling of the amount of genetic information in a single gamete.[1]
Nondisjunction occurs when two of the same sister chromatids or homologues fail to separate, resulting in doubling of the amount of genetic information in a single gamete.[1]. This can lead to trisomy or monosomy conditions such as Down syndrome and Turner syndrome respectively.[1]
This method is reliable for diseases involving large chromosomal change, but has difficulty elucidating small changes to the gene sequences.[3]
Summary
Chromosome disorders, involving portions of chromosomes altered by mistakes in cell division, are widely prevalent and affect approximately 1 in 250 people.[1,2] During meiosis, nondisjunction occurs when two of the same sister chromatids or homologues fail to separate, resulting in doubling of the amount of genetic information in a single gamete.[1].
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