I want to be a mother, but before that I would like to know if I will pass on genetic mutations to my child.


X-LINKED CARRIER TEST

The X chromosome likely has more than 1000 genes. In addition to being more prominent than the Y chromosome, it is also responsible for many traits and diseases.
A mother always passes an X chromosome to her offspring; if the X chromosome has mutated genes related to a disease, her son may inherit the disease. Some conditions can be treated medically, while others are rare diseases without treatments. 

X-LINKED CARRIER TEST

The X-Linked Carrier test is a test specifically designed for women who want a pregnancy. The test is used to investigate genetic mutations passed from a mother to her children where they cause disease.
 
The genetic mutations studied are linked to the X chromosome and cause X-linked recessive hereditary diseases. X-linked recessive hereditary disease has a mutation in a gene on the X chromosome and mainly affects boys. Men have one X and one Y chromosome, (XY); therefore, if the X chromosome is inherited with a mutation in a gene, men don’t have another X chromosome to compensate for the mutation, and they may be affected by a disease.
 
On the other hand, women have two X chromosomes on the other hand, have two X chromosomes, (XX); therefore, if one of the X chromosomes is inherited with a mutation in a gene, women can compensate for the mutation with the other X chromosome and be healthy carriers. Since it is unlikely that women have two mutated copies of the gene which causes the disease, men are more affected by X-linked recessive inherited illness than women.

X-LINKED RECESSIVE HEREDITARY DISEASE 

In boys: one copy of the mutated gene is sufficient to cause the disease.

In girls: two copies of the mutated gene are needed to cause the disease; it is more likely that the woman inherits only one copy of the mutated gene and becomes a healthy carrier.


TIMELY COUNSELlNG HELPS PREVENT X-LINKED DISEASE SUCH AS:

  • Adrenoleukodystrophy (ALD)
  • Choroideremia 
  • Alport syndrome
  • Duchenne muscular dystrophy (DMD)
  • Hypohidrotic ectodermal dysplasia
  • Hemophilia A (HEMA)
  • Hemophilia B (HEMB)
  • Emery-Dreifuss muscular dystrophy 6
  • Fragile X syndrome 
  • Fabry disease
  • Retinoschisis 1, X-linked, juvenile (RS1)
A mother always passes an X chromosome to her offspring

- GET TESTED BEFORE TRYING TO GET PREGNANT -

HOW TO DO IT: