Approximately 1 in 500 persons in the general population carry a chromosome rearrangement. These individuals usually have a personal history or a family member with infertility, multiple miscarriages, stillbirths, or a child with a chromosome abnormality. Chromosome rearrangements are associated with a wide range of phenotype in the adult population.
Chromosome rearrangements like Balanced Translocations are more common amongst infertility patients as compared to the general population.
Diagnosis of disorders resulting from chromosome abnormalities requires cytogenetic testing to identify the cause of the disorder. This testing is available for adults, stillbirth, products of conception, prenatal diagnosis from amniocentesis, chorionic villi and cord blood samples.

Chromosome abnormalities are detected by cytogenetic testing which includes standard karyotype analysis. Karyotype analysis examines the number and the structure of the chromosomes in the cells.

  • Cytogenetic testing can help to identify the cause for the miscarriage, stillbirth or perinatal death. This test can provide important information for prenatal diagnosis in future pregnancies for the family.
  • 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.
  • Finding of a chromosome abnormality in an individual with infertility or history of repeated miscarriage can establish the diagnosis.
  • This test can help physician’s select appropriate treatments for patients including selection of assisted reproductive technology, fertility treatment and options for prenatal diagnosis.