Can an extra chromosome be detected in genetic testing in pregnancy?
Chromosomal genetic tests in pregnancy can analyze long lengths of DNA and whole chromosomes to see if there are any genetic changes, such as an extra copy of a chromosome, that cause a genetic disorder.
There are various ways in which chromosome tests can be done.
Such as:
Karyotyping —
This process includes pairing and ordering all the chromosomes of a person, thus providing a genome-wide picture of all of an individual's chromosomes. Karyotyping can be performed with the help of almost any tissue including bone marrow, blood, amniotic fluid, placenta etc. Karyotypes are produced using standardized staining process that reveal distinctive structural features of each chromosome. Further inspection of karyotypes can also disclose subtler structural changes, like chromosomal replications, deletions, translocations, or inversions. For eg. For eg. Through karyotyping we can detect Down’s Syndrome, in which an extra chromosome is there- chromosome no. 21.
FISH analysis —
Fluorescence in situ hybridization (FISH) is the most convincing technique for locating the specific DNA sequences, diagnosis of genetic diseases, gene mapping, and identification of novel oncogenes or genetic anomaly that contribute to various types of cancers.
In FISH analysis, only specific parts of chromosomes are tested which then detects tiny segments of chromosomes that are either missing or extra. For eg. Duchenne Muscular Dystrophy.
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