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Diagnosis of Chromosome Abnormalities


Women at increased risk of carrying chromosomally abnormal fetuses are routinely offered amniocentesis with cytogenetic analysis of fetal cells. Indications for prenatal diagnosis include advanced maternal age, increased risk for fetal trisomy identified by maternal serum screening, family history, maternal anxiety, and abnormal ultrasound results. Currently, fetal chromosome abnormalities are diagnosed by standard chromosome analysis (e.g., karyotype). Fluorescence in-situ Hybridization (FISH) method can detects chromosome 13, 18, 21, X and Y aneuploidies accurately and is also capable of detecting visible structural abnormalities. It is an important diagnostic tool used in high-risk pregnancies and other medically indicated conditions.



Methodology


Conventional cell cultures techniques for culturing of amniotic fluid/ chorionic villus sample (CVS). Then cultures are harvested to get G-banded chromosomes for karyotype preparation for detection of numeric and structural chromosomal abnormalities as well as balanced and unbalanced chromosome rearrangements.



TESTS


Amniotic Fluid Chromosome Analysis –Karyotype.

Chorionic Villi Chromosome Analysis –Karyotype.

Aneuploidy Panel by FISH (13, 18, 21, X, & Y—newborn whole blood).

Chorionic Villus, FISH (13, 18, 21, X, & Y—CVS).

Chromosome FISH, Prenatal (13, 18, 21, X, & Y—Amniotic Fluid).