© 2018, GENASSIST, Inc.    

By Keith S. Wexler, MBA, CFO, Business Development Director GENASSIST, Inc.

Paul Wexler, M.D., F.A.C.O.G., Medical Director, GENASSIST, Inc.

Clinical Professor, Department of OB/GYN, University of Colorado Health Sciences Center

Clinical Professor, Division of Genetics/Dept. of Pediatrics, Univ. of Colorado/The Children’s Hospital

Patau Syndrome (Trisomy 13) is characterized by three copies of chromosome #13 instead of the expected

two copies.  

The incidence of Patau Syndrome is approximately 1 in 2000 to 1 in 5000 births.

Ultrasound performed in pregnancy after 15 weeks gestation can help identify some babies with Trisomy 13.

Patau Syndrome Ultrasound “Markers:

  • Small Head
  • Small Orbits
  • Sloping Forehead
  • Low Set Ears
  • Cleft Lip/Cleft Palate
  • Extra Fingers and/or Toes
  • Possible Ambiguous Genitalia
  • Occasional Deficiency Development of the Front of the Brain
  • Excess Fluid Accumulation
  • Diaphragmatic Hernia
  • Hernia of Abdominal Wall
  • Heart Defect(s)

(1) The American College of Obstetricians & Gynecologists, Committee Opinion Number 545 December 2012, Publications Committee, “NonInvasive Prenatal Testing for Fetal Aneuploidy”.  The American College of Obstetricians and Gynecologists Committee on Genetics, The Society For Maternal-Fetal Medicine