What Is Genetic Testing

Genetic Testing in reproductive medicine involves analyzing a person’s DNA to identify genetic changes or abnormalities that may affect fertility, pregnancy outcomes, or the health of future children. This testing can be done for individuals, couples, or embryos as part of assisted reproductive treatments.

Purpose

  • Identify inherited genetic disorders that could be passed to children
  • Explain unexplained infertility or recurrent pregnancy loss
  • Guide treatment options for IVF and embryo selection
  • Determine carrier status for common genetic diseases
  • Reduce the risk of certain birth defects and genetic syndromes

Types of Genetic Testing in Fertility Care

  • Carrier Screening – Checks if an individual carries genes for specific inherited disorders (e.g., cystic fibrosis, sickle cell anemia, thalassemia)
  • Preimplantation Genetic Testing (PGT) – Performed on embryos created via IVF to identify chromosomal abnormalities or specific genetic conditions before implantation
  • Karyotype Analysis – Examines the number and structure of chromosomes to detect abnormalities such as translocations or inversions
  • Y Chromosome Microdeletion Testing – For men with very low or no sperm count, to detect missing sections of the Y chromosome that can affect fertility

Procedure

  1. Sample Collection – Usually a blood draw or cheek swab. For embryos, a few cells are biopsied at the blastocyst stage.
  2. Laboratory Analysis – DNA is analyzed to detect gene mutations, chromosomal abnormalities, or other genetic markers.
  3. Result Review – A genetic counselor or reproductive specialist explains findings and implications.

Preparation Tips

  • Bring family medical history if available.
  • Discuss any known genetic disorders in the family.
  • If testing embryos, plan for IVF and embryo biopsy.

Possible Next Steps

  • If you are a carrier of a genetic disorder, your doctor may recommend PGT to avoid passing the condition to your child.
  • If a chromosomal abnormality is detected, you may be offered specialized IVF protocols, donor eggs/sperm, or other reproductive options.
  • Counseling can help you make informed decisions about treatment and family planning.