A wide variety of prenatal screening and diagnostic tests are available. Each offers varying levels of information and performance and each has relative advantages and limitations.
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Preimplantation Genetic Testing for Structural Rearrangements.
What is genetic chromosomal abnormalities. A chromosome mutation is an unpredictable change that occurs in a chromosomeThese changes are most often brought on by problems that occur during meiosis division process of gametes or by mutagens chemicals radiation etcChromosome mutations can result in changes in the number of chromosomes in a cell or changes in the structure of a. Chromosomal abnormalities alterations and aberrations are at the root of many inherited diseases and traits. Features may affect many parts of the body and may include developmental delay.
Chromosomal abnormalities often give rise to birth defects and congenital conditions. To test embryos that are at risk for chromosome gains and losses related to parental structural chromosomal abnormalities eg translocations inversions deletions and insertions preimplantation genetic testing-structural rearrangements is used. Chromosome 9p deletion is a chromosome abnormality that occurs when there is a missing copy of genetic material on the short arm p of chromosome 9The severity and the signs and symptoms depend on the size and location of the deletion and which genes are involved.
Prenatal testing for chromosomal abnormalities is designed to provide an accurate assessment of a patients risk of carrying a fetus with a chromosomal disorder.
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