Congenital Anomalies

Approximately 1 in 35 children are born with congenital anomalies or birth defects. Significant proportions of children with congenital anomalies, mental retardation and developmental delay have chromosome abnormalities. About 1/150 live births have chromosome abnormality, which is either a change in the number of chromosome or structure of chromosome. Chromosome abnormalities are a cause of a wide range of disorders in pediatric population. Anomalies of sexual development can also result from chromosomal abnormalities. In adults, chromosome abnormalities can be associated with infertility and repeated miscarriage. Diagnosis of disorders resulting from chromosome abnormalities requires cytogenetic testing to identify the cause of the disorder. This testing is available for newborns, children and adults.


Chromosome abnormalities are detected by cytogenetic testing which include Standard Karyotype analysis and/or Fluorescence In Situ Hybridization (FISH).

Karyotype analysis examines the number and the structure of the chromosomes in the cells. Individual FISHtests are available for specific aneuploidies (change in chromosome number), common microdeletion /duplication syndromes and for subtelomeric rearrangements.

Benefits of testing

  • Cytogenetic testing can be used to diagnose a genetic disorder in a newborn or child with symptoms.
  • Parents of a child with chromosome abnormality can undergo preconception testing before deciding to become pregnant, and have an option for prenatal diagnosis during the next pregnancy.
  • This test can help physician’s select appropriate treatments for patients with infertility or history of repeated miscarriage.