By Keith S. Wexler, MBA, Maternal Fetal Medicine, Prenatal Diagnosis and Biotech /Life Sciences Consultant, 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
With the wonderful advancements with Microarray Screening Panels, a patient can be screened prior to a pregnancy, for a single disease up to a “general panel” that can help screen for hundreds of diseases.
If the patient were found to be a carrier of a disease and/or diseases then the patient’s partner can be tested to help rule out his/her carrier state for those diseases.
Thrombocytopenia Amegakaryocytic (Congenital) is an Ashkenazi Jewish inherited disease with a carrier frequency of (1 in 75) and affects (1 in 7,401) pregnancies.
Thrombocytopenia Amegakaryocytic (Congenital): Autosomal recessive inheritance (25% if both parents are gene carriers) has been described.
Thrombocytopenia Amegakaryocytic (Congenital) is characterized by low blood platelets in infancy which progresses to low red and white blood cells in later childhood. Thrombopoitin (TPO) which regulates platelet production is increased but there is little to no platelet production response to the increased TPO.
Mutations in the C-Mpl gene – a TPO surface receptor located on the short arm of chromosome #1 (1p34) has been described in many of these cases.
Symptoms include bruising and bleeding. There is an increased risk for the development of acute myelogenous leukemia and myelodysplastic syndrome (where the body makes abnormal cells in blood or bone marrow). Platelet transfusions and ultimately bone marrow transplantation is usually required in severe cases.
*The Preconception Ashkenazi Jewish Screen is available in a variety of Panels:
- Basic Panel – 3 Diseases
- Expanded Panel – 8 Diseases
- *Full Panel – 18 Diseases – (One company is running a 3 part Ashkenazi panel that has up to 39 diseases)
*The Full Panel is now also part of many Microarray Panels that can test for over 100 diseases.
The Jewish population is the United States as of 2012 was 6,543,820 making up 2.1% of the entire U.S. population (1).
The Ashkenazi Jewish Inherited Disease Panel was created to help screen for specific ethnic inherited diseases. Preconception testing is suggested to help identify or rule-out the parents as being carriers.
(1) US Census Bureau, Statistical Abstract of the United States, 2012.