Preimplantation Genetic Testing for Monogenic Disorders

Advanced Embryo Testing for Inherited Single-Gene Conditions

At SAFE Fertility Group PCL, we provide PGT-M, or Preimplantation Genetic Testing for Monogenic Disorders, for couples who are at risk of passing a specific inherited genetic condition to their children.

PGT-M is an advanced genetic testing technique used together with IVF/ICSI treatment. It allows embryos to be tested for a known single-gene disorder before embryo transfer, helping couples make more informed decisions and reduce the risk of passing certain hereditary diseases to their future child.

What is PGT-M?

PGT-M stands for Preimplantation Genetic Testing for Monogenic Disorders.

Monogenic disorders are genetic conditions caused by a mutation or defect in a single gene. These conditions can be passed from parents to children and may result in serious health problems, including birth defects, disability, early-onset disease, or life-threatening conditions.

PGT-M is used to test embryos created through IVF/ICSI for a specific known genetic mutation before pregnancy begins. Embryos that are not affected by the tested condition may then be considered for embryo transfer, depending on the couple’s treatment plan and doctor’s recommendation.

Understanding Monogenic Diseases

Monogenic diseases are inherited disorders caused by changes in one specific gene. A person may carry a genetic mutation without showing symptoms, but the condition may still be passed on to their children.

Some monogenic conditions may be inherited when:

๐ One parent carries or has a dominant genetic condition
๐ Both parents are carriers of the same recessive genetic condition
๐ The mother carries an X-linked genetic condition
๐ There is a known family history of a specific inherited disease
๐ A previous child or pregnancy was affected by a genetic disorder

Because these conditions can be passed through families, genetic counseling and testing are important for couples who may be at risk.

Why PGT-M is Important

PGT-M helps identify embryos that carry or are affected by a specific inherited genetic condition before embryo transfer.

This can help couples:

๐ Reduce the risk of passing a known genetic disease to their child
๐ Make informed decisions before pregnancy
๐ Avoid uncertainty during pregnancy where possible
๐ Plan embryo transfer with greater confidence
๐ Receive personalized genetic counseling and fertility care
๐ Support family planning for couples with known hereditary risks

PGT-M does not test for all possible genetic diseases. It is designed specifically for a known gene mutation identified in the family.

Who Should Consider PGT-M?

PGT-M may be recommended for couples or individuals who have a known risk of passing on a single-gene disorder.

It may be suitable for:

๐ Couples who are both carriers of the same genetic condition
๐ Individuals affected by a dominant inherited disease
๐ Women who are carriers of X-linked genetic disorders
๐ Couples with a previous child affected by a monogenic disease
๐ Couples with a family history of inherited genetic conditions
๐ Couples who have had previous pregnancies affected by a genetic disorder
๐ Patients who have completed genetic carrier screening and received an abnormal result
๐ Couples undergoing IVF/ICSI who want to reduce the risk of passing a known genetic mutation to their child