Patau Syndrome Testing - What You Need To Know

Patau syndrome is an extremely rare chromosomal condition that affects about 1 in 10,000 to 16,000 live births in the world. This condition is often referred to as trisomy 13 because it develops as a random error that results in the affected individual inheriting three copies of the thirteenth chromosome.

Individuals with normal development inherit 46 chromosomes or 23 pairs of chromosomes. When an extra piece or a whole copy of a chromosome is inherited, this can lead to disruptions in physical and intellectual development.

The physical symptoms associated with Patau syndrome include cleft lip palate, abnormally small eye(s), absence of one or both eyes, reduced distance between the eyes, nasal passage development issues, smaller than normal head size, and much more. These health complications can be severe. For this reason, most children born with Patau syndrome do not make it past their first weeks of life.

Prenatal Screening for Patau Syndrome

In the first trimester, your doctor will perform routine screening tests such as ultrasound imaging and maternal blood tests. The results of these tests will give your doctor information about how your baby is growing and developing. For example, during an ultrasound imaging procedure, your doctor may notice abnormalities in the physical appearance of your baby that may indicate trisomy 13, such as the growth and development of the baby’s brain.

If your physician believes there may be a chance that your child has a chromosomal disorder, he or she may present you with the option of performing noninvasive prenatal genetic screening tests, like the MaterniT® 21 PLUS. This test will provide your doctor with information that will allow him or her to analyze the risk that your baby might be born with Patau syndrome or another chromosomal abnormality. If the results of this screening test show a high risk, you will be offered the option of conducting diagnostic testing.

Prenatal Diagnostic Testing for Patau Syndrome

Prenatal diagnostic tests will give your doctor a definitive answer as to whether your child has a certain chromosomal abnormality. Prenatal diagnostic testing options for Patau syndrome include procedures called chorionic villus sampling and amniocentesis.

Chorionic villus sampling is typically performed between gestational weeks 10 and 13. This procedure involves acquiring a sample of placental chorionic villi cells using a needle either through the abdomen or through the cervix.

Amniocentesis is another test that is performed after gestational week 15. This procedure involves acquiring a sample of the amniotic fluid by inserting a needle through the abdomen guided by ultrasound imaging. The chromosomes in the samples collected from both diagnostic tests are analyzed to detect chromosomal abnormalities in the growing fetus.

It is important to know that all prenatal screening and diagnostic testing is optional. If you choose to forego testing and your child displays signs of a chromosomal abnormality at birth, your doctor will conduct a blood test to determine a diagnosis.

Where Can I Get More Information About Patau Syndrome?

If you’re interested in learning more about Patau syndrome or about your personal risk of having a child with Patau syndrome, talk to your healthcare provider or with a genetic counselor.

You can also find information from online sources. The National Institute of Health provides thorough and comprehensive information about Patau syndrome as do various organizations that support research for this condition.