Chromosomal Disorders

What are Chromosomal Disorders?

Chromosomes are the critical building blocks of life. They are the structures that contain a person’s genes. So, they have all the information needed by the body to grow and develop.

Chromosomal diseases are unfortunate abnormalities in the developmental process. Errors in cell division can lead to a missing chromosome or the formation of an extra chromosome. Common Chromosomal Disorders include Down syndrome, Turner syndrome, and Klinefelter syndrome.

Read on further to learn all about the possible causes, symptoms, and treatment options for chromosomal diseases.

Common Symptoms of Chromosomal Disorders

Chromosomal Disorders can result in several symptoms based on the type of disorder and how severe it is. Some common symptoms include

  • Cognitive impairment where the child has difficulty concentrating, remembering, and learning new things.
  • Short stature and developmental delays where the child experiences speech impediments and challenges with social skills.
  • Structural defects include limb or facial defects, and problems with the heart or other internal organs.
  • Difficulty in swallowing and breathing problems.
  • Movement difficulties due to weak or stiff muscles.
  • Neurological problems such as stroke or seizure.

Possible Causes

Chromosomal Disorders occur due to the deletion or addition of extra chromosomes during the developmental process. Several causes can increase the risk of a fetus developing chromosomal abnormalities.

  • Maternal age - If the mother’s age is more than 35, the risk of having a child with chromosomal abnormalities increases. The viability of a woman’s eggs reduces as she ages.
  • Environmental factors - Air pollution in urban areas can harm the baby in the womb. Exposure to chemicals or radiation can have a severe negative impact on the development of the baby.
  • Lifestyle factors - Poor lifestyle choices of the mother can cause genetic abnormalities in the fetus. Smoking and consumption of alcohol during pregnancy can cause several developmental issues in the fetus.

When to See a Doctor

It is important for a couple trying to have a child to be in close touch with a medical practitioner. Genetic testing can play an important role in looking for faulty genes or chromosomal abnormalities.

If mothers have had two miscarriages, this could be a sign of chromosomal abnormalities. If they have other children with genetic disorders, there is a higher risk for the next child.

Regular screening throughout the pregnancy is crucial. This will help diagnose any abnormalities early on. Having proper knowledge will help them decide if they should carry on with the pregnancy or not.

Treatment Options

Chromosomal Disorders have no permanent cure. However, many treatment options are available to reduce the progression of these disorders. Once the baby is born, the goal is to improve the child’s quality of life. Doctors prescribe treatment based on the type of disorder and its severity. Common treatment methods include

  • Surgery to correct any structural issues.
  • Medications and chemotherapy to prevent abnormal growth of cells.
  • Physical therapy to help with any movement difficulties.
  • Speech and cognitive therapy to improve brain function.
  • Nutrition counselling and supplements to ensure optimum growth of the body.

A Concluding Note

Chromosomal Disorders are major disorders that can negatively impact people throughout their lives. So, parents need to take every possible step to ensure that their child does not develop any chromosomal abnormality.

For couples who are currently pregnant or planning to have a child, it is crucial to know about the risk of chromosomal abnormalities. Regular screening and genetic tests can help in early diagnosis and better treatment of any disorder. For further information and in case of any doubt, contact our fertility centre in Varthur.

Request an appointment at Apollo Fertility, Varthur

Call 1860-500-4424 to book your appointment.

1. Can chromosomal abnormalities be prevented?

These disorders cannot be fully prevented. But you can lower the risk of having a baby with a chromosomal abnormality. Have a healthy lifestyle and seek consistent medical care when you are planning to get pregnant.

2. Are chromosomal abnormalities inherited from parents?

There is a slim chance of inheriting these diseases. Most chromosomal abnormalities are not inherited. They are caused due to errors in cell division that occur randomly.

3. Are chromosomal disorders curable?

There is no permanent cure for chromosomal abnormalities. The goal of doctors is to manage the symptoms and improve the child’s quality of life.

4. Can chromosomal abnormalities be detected before birth?

Yes. Prenatal diagnosis of several disorders can be done by amniocentesis and other genetic tests.

5. Can a child with chromosomal abnormalities live a normal life?

Children with mild cases of chromosomal disorders can have a normal lifespan. However, every case is different. So, it is important to consult a doctor to get accurate information.

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