Chromosomal disorders

All About Chromosomal Disorders | Shree IVF Clinic - Dr. Jay Mehta

What is a Chromosome Disorder?

Any syndrome characterized by malfunctions or malformations in any of the body’s systems which results in the abnormal number of the chromosome is known to be chromosomal disorders. Each of the pairs of chromosomes varies in shape and size & is numbered by arrangement. One of the pairs is the sex chromosomes, & the rest twenty-two pairs are autosomes. If there is any disparity in the pattern, it causes abnormalities. There might be replication or absence of chromosomes from any of the pairs, or sometimes an unscathed set of twenty-three chromosome pairs can also be replicated thrice or more times.

Everything You Need to Know About Chromosomal Disorders

Chromosome Test | When to see | Risks | Causes | Symptoms | Prevention | Genetic Disorders | Diagnosis | Treatment

What is a chromosome test during pregnancy?

Chromosome testing is recommended by doctors when doctors want to see the result of the genetic tests. The result of this test will help to determine the medical condition of your child. Each person can have a varied structure of genetic materials in the cells. This thing helps the doctor to determine if there are any abnormalities in the child or not.

The two chromosomal testings involve amniocentesis and CVS or Chorionic villus sampling.

Amniocentesis is the process that involves taking the amniotic fluid from the uterus and send for treatment and testing as well. This fluid is responsible for surrounding and protecting the baby during the time of pregnancy. Amniotic fluid contains various types of proteins and fetal cells. One can get vital information about the health of the baby with the help of amniotic fluid. Amniocentesis can help to determine:

  • Fetal lung testing

When removed from the uterus and sent for testing, this fluid can help to know the baby’s lungs’ condition and determine whether they are mature for birth or not.

  • Genetic testing

It involves taking the fluid from the uterus and testing it to determine conditions like Down syndrome.

  • Paternity testing

Amniocentesis helps to collect DNA that can be compared to the DNA of the potential father.

  • Treatment

Treatment is done to drain the excess amniotic fluid from the mother’s uterus so that excess amniotic fluid does not cause any issue during the time of pregnancy.

  • Fetal infection diagnosis

It helps to determine whether the baby is suffering from any illness or infection. Depending on that, diagnosis is carried on.

Chorionic villus sampling or CVS is one of the prenatal tests, which involves removing the chorionic villi from the placenta for examination. The sample is either taken from the abdominal wall or the cervix. The placenta is responsible for providing nutrients and oxygen to the growing infant and removing waste products from the baby’s blood. This test can be done as early as 11 to 14 weeks of pregnancy.

This test can reveal whether the baby has any chromosomal condition or not, such as down syndrome or any other genetic disorder, for example, cystic fibrosis. This test provides valuable information about the health of the baby. You must also be prepared to understand the risks involved and prepare for the outcomes of the test.

  • When the results from the prenatal screening test are positive?

Doctors suggest this test, or you may opt for this sampling test when the screening tests’ outcomes, which include prenatal cell-free DNA screening or first-trimester screening, are problematic or positive. It helps to determine whether there is any need for diagnosis or not.

  • History of a chromosomal condition in the last pregnancy?

Sometimes the previous pregnancy is affected by some chromosomal condition or down syndrome. Therefore the current pregnancy might have higher risks too. The doctor recommends this test to find out whether there is any risk or not.

  • In case the woman’s age is 35 or older?

When women conceive at the age of thirty-five or are older, women have higher risks of down syndromes.

  • Family history or any of the partners is known to be the carrier of a genetic condition?

This test can help to identify if the baby is having down syndrome or not. It also helps to determine if there are any underlying genetic conditions in the baby or not. Single gene disorders like cystic fibrosis or Tay-Sachs may also be identified with this test.

When to see a doctor?

Some of the reasons when doctors recommend chromosome test during pregnancy are:

  • Severe pain in the abdomen which does not settle with paracetamol or rest
  • Bleeding from the vagina
  • Leaking of fluid from the vagina
  • Feeling unwell all of a sudden with high temperatures

Risk factors for chromosomal disorders in pregnancy

Some of the risk factors for chromosomal disorders in pregnancy are:

  • History of prior stillbirth or multiple miscarriages
  • The age of the mother is 35 or even older
  • The age of the father is 40 or even older

Causes of chromosomal abnormalities in pregnancy

The chromosome structure is like a stick structure, and it is located in the middle of every cell in our body. There are 23 pairs of chromosomes in each and 46 chromosomes. If there is any issue in the chromosome, it causes problems in the entire body.

During pregnancy, chromosomal abnormalities can happen due to an error during cell division. The anomalies can occur due to these reasons:

  • Meiosis – errors in the dividing of sex cells
  • Mitosis– error find while diving other cells
  • Teratogens–  things to which a mother is exposed during the time of pregnancy such as different medicines, alcohol, toxic chemicals, tobacco, radiations, bacteria and viruses, and uncontrolled diabetes

Symptoms of chromosomal abnormalities

Some of the symptoms of chromosome abnormalities are:

  • Infertility
  • Head shaped abnormally
  • Little to no hair on the body
  • Height of below average
  • Muscle mass reduced
  • Physical and mental impairments
  • Very less birth weight
  • Openings in the mouth or lip
  • Disabilities in learning
  • Defects in the kidneys, heart, stomach, lungs, and heart
  • Distinctive features of the face

Prevention for chromosomal abnormalities during pregnancy

The risk of passing chromosomal abnormalities to your babies increases as your age increases. You need to follow specific steps to prevent chromosomal abnormalities during the time of pregnancy. Some of the steps are:

  • Consult a doctor before three months you want to conceive. Discuss your health issues, history of your health, immunizations, and drugs
  • Avoid drinking alcohol and smoking
  • Take prenatal vitamins every day for three months before you want to conceive. The medicines should contain 400 micrograms of folic acid.
  • It would be best if you keep visiting the doctor often
  • Try to consume healthy foods. Foods that are rich in folic acids like grain products, orange juice, oranges, peanuts, and breakfast cereals are essential.
  • Start the process when you have a healthy weight
  • Use drugs that are only given by doctors who know that you are pregnant

Types of disorders can be seen during the time of pregnancy

  • Single gene disorders

When a disease is caused due to an alteration in one gene, it causes single-gene disorders. Some of the examples are sickle cell anemia, cystic fibrosis, hemophilia, Marfan syndrome, and Tay-Sachs disease.

  • Chromosomal abnormalities

This kind of situation occurs when there are missing chromosomes or some extra one. Down syndrome is considered to be one of the most common types of chromosomal abnormality. In this scenario, one additional chromosome number 21 is found. It is mostly inherited from the parents or mostly happens by chance.

  • Complex or multifactorial disorders

This situation is caused by the combination of environmental factors as well as genetic predispositions. It is very harder to understand who will be at risk. Some of the examples are cleft palate or cleft lip,spina bifida, and heart defects.

  • Teratogenic disorders

This occurs when the baby becomes exposed to different substances during the time of pregnancy. It can cause abnormalities, which are known as teratogens. During the time of development of the organs in the first trimester, babies are susceptible. Some teratogens include toxic substances and infections, drugs, alcohol, high radiation exposure, and certain medications’ involvement.

Testing for chromosomal disorders

There are two kinds of testing for chromosomal disorders. They are:

  • Screening tests – This test helps to know whether the baby has any kind of genetic disorders or not
  • Diagnostic tests – This involves several tests. The results of this help to determine specific genetic disorders.

The tests for chromosomal disorders are optional. Hence, they are available to women who do not have any risks at all.

Treatment for chromosomal disorders

The genetic makeup of a person is affected by chromosomal disorders. Therefore they cannot be restored by any sort of treatment. But there are still some treatments that can help make life easier for individuals with chromosomal disorders.

Some of the treatments are physical or occupational therapy, injected growth hormones, and hormone replacement therapies. These will help to treat some of the symptoms of chromosomal genetic disorders and the issues that are connected as well.

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Dr. Jay Mehta Fertility and IVF Specialist In Mumbai

Dr. Jay Mehta

Fertility and IVF Specialist


Verified & Most Trusted One

Dr. Jay Mehta is the Scientific Director of Shree IVF Clinic. He is a well-known Fertility and IVF Specialist and also among few doctors in the country who specializes in Embryology and Andrology.

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