How Genetic Testing Is Used For IVF

In-vitro fertilization, or IVF, can be thought of as more than a procedure, but an entire process, beginning from the initial screening, through implantation of the embryo, and continuing through the duration of the pregnancy until the baby is delivered. Every step along the way has its own trials and tribulations, during which the expectant mother must manage her expectations, while maintaining a positive outlook, which is often difficult to balance.

Since IVF is an undoubtedly costly procedure, it is important to ensure that chances for success are as high as possible. Thus, genetic testing plays an important role. Pre-implantation genetic screening (PGS) and pre-implantation genetic diagnosis (PGD) are methods for screening embryos for the risk of developing genetic diseases, and the presence of specific diseases, respectively. This allows the assisted reproductive therapy specialist to avoid implanting embryos that are likely to result in miscarriage as well as birth defects.

The application of genetic testing has strong implications for IVF success in the Philippines, especially since repeated failed IVF cycles can become costly.

Genetic testing is available to screen for single-gene disorders, such as autosomal dominant, autosomal recessive, and X-linked genetic illnesses. Some of the more frequently diagnosed diseases are listed in the following table:

Autosomal Dominant Autosomal Recessive X-linked
  • Huntington’s Disease
  • Myotonic Dystrophy
  • Cystic Fibrosis
  • Sickle Cell Disease
  • Spinal Muscular Atrophy
  • Duchenne Muscular Dystrophy
  • Fragile X Syndrome
  • Haemophilia A

Additionally, couples in which one partner is diagnosed with, carries, or has a family history of a hereditary disease can opt for genetic testing.

Genetic testing can be used for embryo selection for implantation, since harvested oocytes have varying chances for success at different stages of development after fertilization. This is increasingly important for women of advanced maternal age, as well as patients who have had repeated IVF failures.

Genetic testing is used to screen for chromosomal abnormalities such as aneuploidy. This abnormal number of chromosomes can result in spontaneous abortions, or diseased live births (e.g. Down syndrome, Patau syndrome, Edwards syndrome). Embryos who demonstrate euploidy as opposed to aneuploidy have a much higher chance of a more successful pregnancy, with less maternal risk. They have a potentially longer life span after birth, and can expect a much higher quality of life.