Genetic Screenings for enhancing success of IVF

When an individual or couple is considering starting a family, a helpful tool can be taking a universal carrier screening test. These tests look at a large list of common genetic conditions through a blood or saliva sample. The test looks to see whether there are changes in an individual’s DNA that increase the chance of having a child with that genetic condition. Most individuals are carriers for a handful of genetic conditions, even if there is no family history.

Carriers are not expected to have any significant health risks. If both parents are carriers for the same condition, there is a 1 in 4, or 25% chance of having a child with the condition. These test results can help individuals, or couples, make the right choice for them when it comes to starting their family.

What is Preimplantation Genetic Diagnosis (PGD)?

As per AMRI Hospitals “When a parent or parents carry a mutation that puts them at risk for having a child with a hereditary disorder, preimplantation testing of embryos can diagnose an embryo as affected or unaffected and embryos which do not carry the affected gene can be selected for transfer and this process is called PGD".

It can significantly reduce the chances of having an affected child. It is typically done on patients who have no difficulty conceiving. Many couples know that they are at risk due to a family member with the disease, but some patients may be silent carriers. Preconception carrier screening can help identify patients and couples at risk for having a baby with a common genetic syndrome.

What is Preimplantation Genetic Screening (PGS or CCS)?

Preimplantation Genetic Screening is different from PGD because it is done on patients who do not carry a known disease-causing mutation, but wish to reduce their chances of chromosomal imbalance which could lead to miscarriage or a baby with an extra or missing chromosome, such as Down’s syndrome. As women age, their eggs are at higher risk of carrying a missing or extra chromosome. 

Preimplantation genetic screening of embryos can include all 24 chromosomes and is, therefore, sometimes referred to as comprehensive chromosome screening (CCS).
PGS can be performed in conjunction with a standard IVF cycle in any couple, but is typically considered in patients where the female partner is over 35 years of age. An additional benefit of PGS is that in improves our ability to choose the healthier embryos in a cohort, achieving a high success rate with a single embryo transfer and reducing the risks of twin pregnancies.