Down Syndrome During Pregnancy - 3 Causes, 10 Symptoms & 12 Treatments

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While pregnancy is a time of great joy and excitement, those nine months are also one of your most anxious and annoying. You always want to know about the health of your unborn baby and want to do everything to eliminate any health risks.

Sometimes, your baby may suffer from a condition known as Down’s syndrome, which can lead to many problems. However, before you panic, consider reading our post to learn more about Down syndrome symptoms during pregnancy.

What Is Down’s Syndrome?

Down’s syndrome is a type of genetic disorder that leads to various delays in terms of physical growth as well as intellectual ability. In most cases, the average mental age of a person suffering from Down’s syndrome is equivalent to that of an eight or nine-year-old child, even though it may vary (1).

Causes Of Down Syndrome During Pregnancy

Under regular circumstances, a human cell contains 23 pairs of chromosomes, where each pair consists of one chromosome from each parent. Sometimes, there can be an abnormal pairing in the cells, which involves chromosome 21. In such a condition, there is an extra genetic material that comes from the chromosome 21 and leads to the characteristics and features that result in Down’s syndrome. The cause of down syndrome during pregnancy may be due to any of the three genetic variations listed below:

1. Trisomy 21:

Trisomy 21 is the leading cause of Down’s syndrome in almost 95 percent of the cases. In this case, the baby gets three copies of the chromosome 21 in all cells, instead of getting two, one from each parent. It happens as a result of an abnormal division of cells while the sperm cell or the egg cell is still developing.

2. Mosaic Down Syndrome:

Mosaic Down syndrome is a rare form of Down’s syndrome. In this type of Down’s syndrome, the baby gets an extra copy of the chromosome 21 in only some cells, making it a mosaic of normal as well as abnormal cells. It happens as a result of abnormal cell division that usually takes place just after the egg is fertilized by the sperm.

3. Translocation Down Syndrome:

Translocation Down syndrome is the type of Down syndrome the baby gets the regular two copies of the chromosome 21 but also has some additional material that comes from chromosome 21. Down’s syndrome can also happen when some part of the chromosome 21 attaches, or gets translocated to another chromosome. It can happen both before as well as after conception (2).

[ Read: Genetic Counseling During Pregnancy ]

Is Down’s Syndrome Genetic?

Contrary to popular belief, a baby does not inherit Down’s syndrome. It only happens when there is an error in the way the cells divide the body while the egg, sperm, or embryo are in their developing stages.

  • The only type of Down’s syndrome that may pass on from a parent to a child is Translocation Down syndrome. However, it is a rare form of Down’s syndrome, and only about a total of four percent children who have Down’s syndrome have Translocation Down syndrome. Out of these four percent, only about one-third children will contract it from their parents.
  • In case the Translocation Down syndrome is inherited, it means that either the father or the mother will have some rearranged genetic material. However, there will be no extra genetic material, which means that the person is a balanced carrier. A balanced carrier is one who will not have any of the signs and symptoms that are associated with Down’s syndrome, but can easily pass it on to the baby. In such case, the baby will get an extra genetic material from the chromosome 21.
  • The risk of passing on the Translocation Down syndrome to the baby will depend on the gender of the parent who has the rearranged chromosome 21. If it is the father, the baby will have about a three percent chance of getting Down’s syndrome. If it is the mother, the baby will have.

[Read: Genetic Testing During Pregnancy]

Symptoms Of Down’s Syndrome In Pregnancy

The symptoms of Down’s syndrome will depend on whether the condition is mild or severe. The delays and developmental issues can differ from baby to baby and in some cases may also be associated with other health complications. Here are some of the most common signs of Down syndrome during pregnancy:

  • A small head as compared to the rest of the body.
  • Facial features that appear flattened.
  • A short neck that may look almost non-existent in some cases.
  • A protruding tongue.
  • The eyes will be shaped in a slanting position in an upward direction, which may be unusual for that particular ethnic group to which the baby belongs.
  • The baby’s height will be much shorter as compared to other babies of the same age.
  • The baby’s ears will also be smaller as compared to other babies.
  • The fingers will be shorter than is regularly seen, and the arms and legs will also be shorter.
  • There can be the appearance of small white spots on the iris, which is the colored part of the eyeball. The spots are known as Brushfield spots.
  • The baby’s hands will also be broad, and there will be only one crease in the palm (3)

Diagnosing Down’s Syndrome In Pregnancy

Doctors typically conduct two tests to diagnose Down’s syndrome during pregnancy, but in most places these are part of optional tests, which means you can ask for the tests and these will not be part of your routine tests.

The two diagnosis test done during pregnancy for down syndrome are:

  • Amniocentesis.
  • Chorionic Villi Sampling (CVS) (4).

In both the tests, the results show an image of the unborn baby’s chromosomes, which help the doctor understand whether the unborn baby does have Down’s syndrome. Babies who will be born with Down’s syndrome will have an extra number of the 21-chromosome or 47 chromosomes instead of the usual 46.

[ Read: Sequential Screening during pregnancy ]

Treating Down’s Syndrome In Pregnancy

The right treatment and intervention at an early stage can make a huge difference in the severity of the condition as well as help babies reach their full potential and improve the quality of life. Your baby’s doctor will be able to refer you to a specialist, who may suggest you a medical team with the following professionals:

  • A primary care pediatrician.
  • A pediatric cardiologist.
  • A pediatric gastroenterologist.
  • A pediatric endocrinologist.
  • A pediatric neurologist.
  • A developmental pediatrician.
  • A pediatric ENT specialist.
  • A physical therapist.
  • A speech pathologist.
  • A pediatric ophthalmologist.
  • An audiologist.
  • An occupational therapist (5)

While Down’s syndrome is not curable, it is certainly a condition where your baby can still be happy and safe as long as you provide the required love, care, and treatment. Make sure you speak to your doctor to know all the fine details of risk factors for down syndrome pregnancy .

Moms, have you cared for a baby who has Down’s syndrome or did you get the test done when you were pregnant? Do share your experience with other moms. Leave a comment below.

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