Patau Syndrome

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Diagnosis

Patau syndrome can be diagnosed during pregnancy or after birth:

During pregnancy

In order to make a confirmed diagnosis during pregnancy, doctors can run invasive tests, such as Chorionic Villus Samples (CVS) and amniocentesis. Or, they can withdraw blood—containing fetal DNA—from the mother.

At Birth

At birth, the disease is confirmed by examining the infant’s chromosomal pattern through karyotyping. This is done by staining and grouping similar looking chromosomes together, in order to photograph and analyze them. If there are three copies of chromosome 13, the baby is diagnosed with Patau syndrome.

References

Chitayat, D. (2011, February 8). Trisomy 13 (Patau Syndrome). Retrieved from http://www.aboutkidshealth.ca/EN/HEALTHAZ/CONDITIONSANDDISEASES/GENETICDISORDERS/Pages/trisomy-13-patau-syndrome.aspx

Fundukian, L. (2010). The Gale encyclopedia of genetic disorders (3rd ed., Vol. 2). Farmington Hills, MI: Gale.

Haldeman-Englert, C. (2013, August 9). Trisomy 13. Retrieved from https://www.nlm.nih.gov/medlineplus/ency/article/001660.htm

Trisomy 13. (2013, November 3). Retrieved from http://ghr.nlm.nih.gov/condition/trisomy-13

Patau Syndrome

Click here to edit subtitle

Diagnosis

References

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