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How to diagnose chromosomal abnormalities (4 ways)

User Attersson
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Final answer:

There are four ways to diagnose chromosomal abnormalities. These include karyotyping, genetic testing, non-invasive prenatal testing (NIPT), and preimplantation genetic testing (PGT).

Step-by-step explanation:

1. Karyotyping: Geneticists use this method to identify abnormalities by observing the individual's karyotype. Cells are collected from a blood sample or tissue, stimulated to divide, and the chromosomes are arrested and spread apart for observation.

2. Genetic Testing: This involves analyzing DNA or chromosomes to detect abnormalities. Techniques such as fluorescence in situ hybridization (FISH), array comparative genomic hybridization (aCGH), and next-generation sequencing (NGS) can be used.

3. Non-Invasive Prenatal Testing (NIPT): This screening test analyzes cell-free fetal DNA in the mother's blood to detect chromosomal abnormalities in the fetus. It is commonly used to detect conditions like Down syndrome.

4. Preimplantation Genetic Testing (PGT): This technique is used in assisted reproductive technology to screen embryos for chromosomal abnormalities before implantation. It involves extracting cells from embryos and analyzing their genetic makeup.

User Sfactor
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