Perinatal and Prenatal Diagnosis

Perinatal and Prenatal Diagnosis

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 chromosome abnormality. Chromosome rearrangements are associated with a wide range of phenotype in adult population. Anomalies of sexual development can also result from chromosomal abnormalities.

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 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 FISH tests are available for specific aneuploidies (change in chromosome number), common microdeletion/duplication syndromes and for subtelomeric rearrangements.

Benefits of Testing

  • Cytogenetic testing may be able 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.