Cytogenetics is a branch of genetics. Every individual has 46 chromosomes with XX sex chromosomes in females and XY in males. These chromosomes are carriers of the genetic material that encodes for all genetic information. Thus any abnormality in the chromosome number or structure leads to a genetic condition with mild to severe clinical presentation depending on the type of chromosomal abnormality.
Chromosomal abnormalities can happen in any cell in the body when egg and sperm cells are being made, during early fetal development, or after birth. A routine cytogenetic analysis involves evaluating 15 to 20 cells to determine their modal chromosome number and assessing the structural integrity of each chromosome in the complement. Thus, cytogenetics has a direct effect on the diagnosis, management, and prevention of many disorders that are caused by chromosome aberrations.
The cytogenetics department at CIMAR has the best cytogenetics lab that work together with maternal-fetal medicine department and infertility department.
The cytogenetics testing involves prenatal diagnosis, neonatal and paediatric investigations for recognised syndromes, investigation of developmental delay, learning difficulties, multiple congenital abnormalities (dysmorphism), investigation of infertility and reproductive disorders in adults. In conjunction with collaborating laboratories, we also undertake specialist cytogenetics testing for rarer genetic syndromes.
Cases referred for chromosomal analyses (cytogenetics testing) include a wide range of individuals with the following clinical conditions:
Parental cytogenetic testing may be requested following the conception of a cytogenetically abnormal fetus, the birth of a cytogenetically abnormal child, the loss of a pregnancy with a suspected chromosome abnormality, or an unexplained stillbirth/neonatal death. Samples can be referred for a wide variety of reasons (see below):
Following an abnormal cytogenetic result in a fetus or child NB the proband’s report will state if parental cytogenetics testing is indicated.
Our fully equippedcytogeneticslab aids both the maternal-fetal medicine unitand theinfertilityunit.