Hirschsprung Disease Genetics

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Keep reading to learn more about Hirschsprung Disease Genetics. There is no greater joy quite like the moment you finally get to see your newborn for the very first time. Being a parent is a priviledge not many people can have, nor experience.

But to parents who were once diagnosed with Hirschsprung’s Disease at one point in their childhood, the feelings may very well be mixed. This is, more often than not, because they know their newborn is more likely to be suffering from the same condition as the dreaded disease is hereditary.

Early symptoms of infants with Hirschsprung’s Disease

You are overjoyed when you see your little one, but then your doctor comes to tell you that one thing you have been worrying from the first trimester of your pregnancy – your newborn may or may not have Hirschsprung’s Disease as they are showing symptoms that are heavily linked to the condition. Symptoms such as:

  • Abdominal bloating due to excessive gas
  • Abdominal swelling
  • Significant delay of growth
  • Anemia in extreme cases
  • Vomiting
  • Explosive diarrhea, in some cases even bloody, once stimulated

Your doctor informs you that a prompt action is needed and a few tests must be done immediately to properly diagnose whether or not your newborn inherits your medical issue. Despite of having been there once in your life, you can’t help but feeling devastated. You just can’t see your child suffering and going through the pain and discomfort you once had to endure.

Recurrence rate of Hirschsprung’s disease

Parents who had Hirschsprung’s Disease in their childhood or those who are perfectly healthy but already has one child with the condition, has greater chance of having another child with the same condition – all of this is possible due to the factors of genetic risk for Hirschsprung’s Disease.

Risk of developing Hirschsprung’s Disease in boys is much higher than the risk in girls, with 5 to 1 ratio and 1.8 to 1 ratio in short segment of Hirschsprung’s Disease and long segment of Hirschsprung’s Disease male to female ratio.

As far as the recurrence risk, with the assumption of the same parents, it can be easily estimated even without a genetic testing done beforehand as the recurrence rate of Hirschsprung’s Disease within the family is up to 33% for subsequent-pregnancies listed as follows:

  • If the first child is male, the chance of having a second child with Hirschsprung’s Disease is 5% for male and 1% for female.
  • If the first child is female, the Hirschsprung Disease Genetics is 5% for male and 3% for female.

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