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How is trisomy 13 diagnosed?

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Your doctor might spot physical signs of trisomy 13 during your routine first-trimester fetal ultrasounds. Or it could show up in tests such as cell-free DNA screening (NIPT) or the PAPP-A (pregnancy-associated plasma protein A).

These are all screening tests, which means they can’t tell your doctor whether your baby definitely has trisomy 13. They only alert your doctor that your baby is more likely to have trisomy 13, and that you need more tests to confirm it.

Your doctor likely will recommend you have a chorionic villus sampling (CVS) or amniocentesis to be 100% certain.

SOURCES:

Centre for Genetics Education: “Trisomy 13: Patau Syndrome.”

Dugo, N. Journal of Prenatal Medicine, January-March 2014.

Genetic and Rare Diseases Information Center: “Trisomy 13.”

The Mayo Clinic: “High Blood Pressure (Hypertension).”

National Institute of Arthritis and Musculoskeletal and Skin Diseases: “Scoliosis.”

National Organization for Rare Disorders: “Trisomy 13 Syndrome.”

Trisomy.org: “Trisomy 13 Facts” and “Care of the Infant and Child with Trisomy 18 or Trisomy 1.”

U.S. National Library of Medicine: “What is a Chromosome?”, “What is DNA?” and “Trisomy 13.”

University of Rochester Medical Center: “Trisomy 18 and 13.”

Reviewed by Renee A. Alli on August 29, 2020

SOURCES:

Centre for Genetics Education: “Trisomy 13: Patau Syndrome.”

Dugo, N. Journal of Prenatal Medicine, January-March 2014.

Genetic and Rare Diseases Information Center: “Trisomy 13.”

The Mayo Clinic: “High Blood Pressure (Hypertension).”

National Institute of Arthritis and Musculoskeletal and Skin Diseases: “Scoliosis.”

National Organization for Rare Disorders: “Trisomy 13 Syndrome.”

Trisomy.org: “Trisomy 13 Facts” and “Care of the Infant and Child with Trisomy 18 or Trisomy 1.”

U.S. National Library of Medicine: “What is a Chromosome?”, “What is DNA?” and “Trisomy 13.”

University of Rochester Medical Center: “Trisomy 18 and 13.”

Reviewed by Renee A. Alli on August 29, 2020

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