Genetic Disorders In Babies - Everything You Need To Know

Genetic Disorders In Babies

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Do you know that your baby can come to this world with a hereditary disease? What a horrible thing to say, or type, but it’s one of the tragedies of life. A genetic disorder can feel like that, but hey chin up! Read about the subject and arm yourself with the right knowledge. How? Well scroll down and learn about genetic disorders in babies and how they develop.

What Are Genetic Disorders?

A genetic disorder is an inherited condition, which your baby might inherit from you or your partner. These disorders can also occur if your baby’s grandparents suffer from such disorders.

Types Of Genetic Disorders In Babies:

Here, we list some types of baby genetic disorders:

1. Teratogenic problems:

Sometimes, teratogens can cause abnormalities viz. alcohol, lead, high levels of radiations, certain medicines, etc. If your baby is exposed to such substances in the first trimester of your pregnancy, then your baby is at a higher risk of developing teratogenic disorders.

[ Read: Phenylketonuria (PKU) In Babies ]

2. Single gene defects:

Single gene defects are characterized by a single abnormal gene. There are fifty percent chances that the baby will inherit the disease if the parent has a history of a disorder. Such disorders are known as Mendelian Disorders of inheritance. Examples of such disorders include:

  • Sickle Cell Disease: The disease of abnormal red blood cells.
  • Cystic Fibrosis: There is excessive mucus secretion in the lungs and other problems related to food absorption and pancreas functions also occur. It is the disorder of the glands.
  • Tay-Sachs disease: The disease causes progressive degeneration of the central nervous system.
  • Marfan Syndrome: The disease causes heart defects and longer limbs as it is a connective tissue disorder.
  • Achondroplasia: It causes dwarfism due to abnormal bone development.
  • Hemophilia: An absence or a low level of a protein essential for clotting of the blood. If your baby is suffering from the disorder, then his wounds will bleed profusely, and the blood will not clot easily.

3. Multifactorial problems:

Multifactorial problems do not follow a single chromosomal or genetic abnormality pattern. The disease might occur due to the combined effect of the environment and the genes, making it impossible to predict the inheritance of the disease. Examples are neural tube defects, heart diseases, cleft palate or cleft lip, etc.

[ Read: Neurofibromatosis In Babies ]

4. Chromosomal abnormalities:

Such type of disorders occur if the parent is suffering from the disease or it might occur in the baby, even if there is no family history of the disorder. Examples of such disorders are:

  • Aneuploidy: In such cases the chromosome number is either more or less than the normal number. Examples of aneuploidy are Turner’s Syndrome, Down Syndrome.

[ Read: Symptoms Of Turner Syndrome In Babies ]

  • Inversion: If a chromosome breaks from somewhere and then reattaches itself but this time from the opposite sides, then the phenomenon is known as inversion. It might or might not cause any birth defect.
  • Translocation: The rearrangement of chromosomes from one location to the other is called translocation. It occurs either in the same chromosome or some other one.
  • Deletion: It occurs when the part of chromosome or DNA is missing.

[ Read: Types Of Down Syndrome In Babies ]

Diagnosing Genetic Disorders In Babies:

If you have a family history of genetic disease, then your doctor will check your newborn to detect any symptoms of genetic disorders in babies.

Some of the common diagnostic procedures include:

  • DNA analysis
  • Amniocentesis
  • Prenatal testing
  • Chorionic villus sampling

Treating Babies With Genetic Disorders:

Treating a genetic disorder can be a lifelong problem, and most cases have no known cures. However, some genetic disorders can be treated with gene therapy.

Did your baby suffer from a genetic disorder? If yes, what treatment did he undergo? Has the disease been cured? Share your story with other mommies by dropping in a comment below.

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