Chromosomal Microarray

Chromosomal microarray (CMA) is a genetic test that can detect chromosomal abnormalities that may not be visible with traditional karyotyping. It is a type of genetic testing that examines all of the chromosomes in a person’s DNA in order to detect missing or extra pieces of DNA, called copy number variations (CNVs).

CMA is a more sensitive test than traditional karyotyping, and can detect a wide range of chromosomal abnormalities, including small deletions or duplications of DNA that may not be visible with traditional karyotyping. It can also detect structural abnormalities of chromosomes.

CMA can be used for prenatal, postnatal or preimplantation genetic diagnosis (PGD) and can be performed on blood, amniotic fluid, chorionic villi or preimplantation embryos.

The benefits of CMA include:

• Increased detection rate of chromosomal abnormalities compared to traditional karyotyping
• Can detect smaller chromosomal abnormalities that may not be visible with traditional karyotyping
• It can also detect submicroscopic imbalances and structural abnormalities which are not visible on karyotyping.
• It can also detect gene-specific copy number variations that may be associated with a specific genetic disorder.
• It can also be used for carrier testing for specific genetic disorders

Chromosomal Microarray (CMA) is a genetic test that can detect chromosomal abnormalities that may not be visible with traditional karyotyping. It is used to detect missing or extra pieces of DNA, called copy number variations (CNVs) and structural abnormalities of chromosomes. Indications for CMA include:

• Prenatal testing: CMA can be used to detect chromosomal abnormalities in a developing fetus, it can be performed on a sample of the mother’s blood, amniotic fluid, chorionic villi or the placenta. It can detect a wide range of chromosomal abnormalities, including small deletions, duplications and structural abnormalities of chromosomes.
• Postnatal diagnosis: CMA can be used to diagnose chromosomal abnormalities in newborns and children, it can be performed on a sample of blood, buccal swab or hair root.
• Preimplantation genetic diagnosis (PGD): CMA can be used to detect chromosomal abnormalities in embryos before they are implanted into the uterus, this is particularly useful for couples who are at a high risk of having a baby with a chromosomal abnormality or a genetic disorder.
• Carrier testing: CMA can be used to detect copy number variations that may be associated with a specific genetic disorder, this is particularly useful for families with a history of a specific genetic disorder or for couples who are at a high risk of having a baby with a genetic disorder.
• Recurrent miscarriage: CMA can be used to detect chromosomal abnormalities in couples who have had recurrent miscarriages.
• Recurrent implantation failure or recurrent IVF failure: CMA can be used to detect chromosomal abnormalities in couples who have had recurrent implantation failure or recurrent IVF failure.
• Poor quality embryos or poor ovarian reserve: CMA can be used to detect chromosomal abnormalities in couples who have had poor quality embryos or poor ovarian reserve.