Chromosomal Microarray (CMA-750K) + Karyotyping (KT)

1. Chromosomal Microarray (CMA-750K) (1)
   1. Chromosomal Microarray (CMA-750K)
2. Karyotyping (KT)- Prenatal (1)
   1. Karyotyping (KT)- Prenatal

The test “Chromosomal Microarray (CMA-750K) + Karyotyping (KT)” combines two different genetic tests that are often used in prenatal screening to detect chromosomal abnormalities in a developing fetus. These tests are performed to assess the risk of certain genetic conditions and birth defects.

1. Chromosomal Microarray (CMA-750K): Chromosomal Microarray, also known as Comparative Genomic Hybridization (CGH) or Chromosomal Microarray Analysis (CMA), is a high-resolution genetic test that can detect tiny deletions or duplications (copy number variants) in the DNA. It analyzes the entire genome and is capable of detecting both known and novel genetic variations. CMA can identify chromosomal imbalances associated with various genetic syndromes and developmental disorders. This test is particularly useful in detecting conditions caused by microdeletions and microduplications that are not easily detectable by standard karyotyping.
2. Karyotyping (KT)- Prenatal: Karyotyping is a classical genetic test that examines the chromosomes of an individual, in this case, a developing fetus. It involves analyzing the size, shape, and number of chromosomes in the fetal cells to identify any major structural abnormalities. Karyotyping is capable of detecting numerical abnormalities (e.g., trisomy 21 for Down syndrome) and large structural abnormalities, such as translocations and deletions.

Combining CMA and Karyotyping provides a comprehensive approach to genetic screening in prenatal care. While CMA offers high sensitivity for detecting small chromosomal imbalances, karyotyping can still detect larger abnormalities that may not be detected by CMA alone. Both tests together can provide a more complete assessment of the fetal chromosomal status.

This combined approach is recommended in cases where there is an increased risk of chromosomal abnormalities or when specific ultrasound findings suggest the possibility of genetic disorders in the fetus. It allows for a more accurate diagnosis and counseling of parents regarding potential genetic conditions that might affect the health of their baby.