Which genetic diseases can be prevented with IVF-PGT?

You have to first understand:

1. Pre-implantation genetic testing for monogenic (single-gene) defects (PGT-M): is performed to find specific inherited conditions controlled by a single gene such as autosomal recessive, autosomal dominant or X-linked disorders
2. Pre-implantation genetic testing for chromosomal structural rearrangements (PGT-SR): is used to test for inherited chromosomal anomalies such as chromosomal inversions, reciprocal translocations, Robertsonian translocations, etc.

What diseases does PGT screen for?

It is important to know the family history of genetic disorders to see what problems were present in the family tree that may be passed to the new babies.

The most commonly diagnosed conditions with PGT include:

1. Cystic fibrosis
2. Hemophilia A
3. Sickle cell anemia
4. Spinal muscular atrophy
5. Duchenne muscular atrophy
6. Fragile X syndrome
7. Myotonic dystrophy
8. BRAC 1 & BRAC 2 genetic mutations
9. Huntington’s disease
10. Tay-Sachs disease

Family history of X-linked disease

Monogenic diseases that are passed through an X-linked inheritance are usually discovered while taking family history or at the birth of a child who is affected.

X-linked recessive diseases usually only affect males as they have only one X chromosome and any mutation to the genes on that will cause the disorder. That’s why conditions like Hemophilia, Fragile X syndrome, etc. are more common in men.

If a woman has the affected gene on one X chromosome, its effect is masked by the normal X chromosome. However, they will still be carriers and may pass it to their children. If the child is a boy, the disease will likely show and if it is a girl, she might become a carrier too.

Late on-set disorders

Some genetic diseases are present at birth while others develop later during your childhood or adult life. These include cardiomyopathies, predisposition to cancer, neurodegenerative conditions such as Alzheimer’s and Huntington’s.

The usage of PGT is now being extended to check for gene mutations that may cause late-onset disorders.

While it may be beneficial, experts urge to exercise caution against the overuse of PGT, which may have people investing in unnecessary procedures to detect a problem that may or may not occur later in life.

Inherited predisposition to cancer

Genes that raise the risk of developing breast and ovarian cancer in women can be identified with PGT but women who don’t have any fertility issues or the need for expensive reproductive methods, are not encouraged to do it.