Genetic Testing

Genetic testing provides information about a person’s genes and chromosomes. It allows doctors to make a more accurate patient diagnosis and personalize the fertility treatment to help improve the chances of achieving pregnancy while limiting the risks of complications. Genetic test results can confirm or rule out a suspected genetic condition. The results of tests also help to determine a person’s chance of developing or passing on a genetic disorder to their offspring. Changes in the genetic makeup are one of the major reasons for implantation failures, miscarriages, and other male/female-specific fertility problems.

Different types of genetic tests may be performed and they include:

• Karyotyping provides an overview of an individual’s chromosomes and helps to identify problems in the number or structure of chromosomes
• Carrier screening can tell us if a person carries a gene variant (modification) responsible for certain genetic disorders that may be passed on to the next generation
• Testing for a specific genetic disorder targets the gene of interest only (e.g. Fragile X syndrome, B-Thalassemia, etc.)
• Genome-wide screening is used when a genetic problem is suspected but the specific disorder or its cause (gene) is unknown.
• Chromosome microarray testing (CMA) detects gains or losses of genetic material across the entire genome.
• Y-chromosome microdeletion testing detects the missing gene(s) on the Y chromosome that affects the production of sperm and causes male infertility disorders like azoospermia
• Sperm DNA fragmentation testing is used to measure the damage in sperm DNA
• Sperm aneuploidy screening identifies errors in the number of chromosomes present in each sperm Y-chromosome microdeletion.
• Sperm DNA fragmentation, and Sperm aneuploidy testing help determine the treatment options for male factor infertility.
• Endometrial receptivity testing assesses the receptivity of the endometrium to identify the optimal timing for embryo transfer.
• Pre-implantation genetic testing evaluates embryos before transfer to the uterus.

During the initial consultation and counseling sessions at ART Fertility Clinics, the appropriate testing will be requested by the doctor based on the person’s reproductive and family history.