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Genetic test for Patau’s syndrome.

A genetic test for patau’s syndrome is a rare and very serious genetic disorder caused by a genetic mutation. In this syndrome, an additional copy of chromosome 13 is present in some or all cells of the body. This disorder is also known as trisomy 13.

Each cell contains 23 pairs of chromosomes but a baby with Patau’s syndrome carries 3 copies of chromosome 13 instead of two.

genetic test

Symptoms of a genetic test for Patau’s syndrome

  • As this condition severely affects the normal development in many cases this often results in miscarriage or stillbirth. And after birth, the baby doesn’t survive for too long.
  • Babies with this syndrome have a wide range of health-related problems.
  • The brain of the babies does not divide 2 halves.
  • Some facial feature defects also cause cleft lip and palate.
  • An abnormally small eye or eyes.
  • Absence of both or 1 eye.
  • It can also cause other problems like an abdominal wall defect where the abdomen doesn’t fully develop in the womb. This results in the intestine being outside the body which is only covered by a membrane – this condition is also known as exomphalos.
  • There are also abnormalities of the hand and feet such as extra fingers or toes.

genetic testing

Screening for Patau’s syndrome-

This test is offered at 10-14 weeks of pregnancy and includes an ultrasound and blood test to check if you have a higher chance of having a baby with Patau’s syndrome. If it shows that you do have the risk then a diagnostic test is offered.

In this test few techniques like CVS and amniocentesis DNA are used to obtain samples from the fetus and then those samples are used to carry out a DNA test to check for Patau’s syndrome and other possible genetic disorders.

Treatment for this disorder

There is no known treatment for Patau’s syndrome and the doctor usually focuses on making the child comfortable and making sure the baby can feed.

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