POST-NATAL CHROMOSOME ANALYSIS

Genes define a person’s inherited physical characteristics with an impact on growth, function and development.

Chromosomes contain the body’s genetic blueprint, each containing thousands of genes in specific locations. These genes define a person’s inherited physical characteristics with an impact on growth, function and development.

Peripheral Blood Sample

For newborn / infant / child with:

  • Serious anomalies

  • Two or more dysmorphic features or anomalies

  • Ambiguous genitalia, small penis, or hypospadias

  • Developmental delays, learning disabilities or behavioral problems

  • Unexplained mental retardation

  • Suspected chromosomal abnormality

For adolescent with:

  • Inguinal hernia, primary or secondary amenorrhea

  • Premature ovarian failure

  • small testes or gynecomastia

  • Suspected syndrome caused by chromosomal abnormality

  • Ambiguous genitalia

  • Abnormal growth such as relatively short stature or excessive growth.

  • Failure to develop secondary sexual characteristics

For adult/couple with:

  • Infertility problem with unknown etiology

  • 2 or more pregnancy losses or stillbirths of unknown causes (about 6% have a chromosomal abnormality)

  • Chromosome abnormality or unusually variant detected in prenatal chromosome study

  • Child or family history of chromosome abnormality

  • All males seeking assisted reproductive technologies

Two thirds of miscarriages in the first trimester of pregnancy are due to an imbalance in the genetic makeup (chromosome imbalance) of the conceptus.

Products of  Conception

Chromosome analysis on products of conception from miscarriages or termination of pregnancy may shed lights on reason for miscarriage or abnormalities in the fetus. Two thirds of miscarriages in the first trimester of pregnancy are due to an imbalance in the genetic makeup (chromosome imbalance) of the baby.
A very small percentage of miscarriages are due to parents being carriers of a balanced chromosome rearrangement. For couple who had three successive miscarriages, it is advisable to investigate for possible carrier status. If a chromosomal rearrangement is indeed present, a genetic counsellor will be able to give more precise advice about the genetic risks in their future pregnancies.