© 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
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