I got this from the Strong's and thought I would let anyone know who hasn't read it. This is good stuff people! We are moving in the right direction. They are really thinking that there is a link here and it would be great for parents to be prepared in the case of SMA. In the future I hope that all pregnant women are given an ultrasound around around 10 weeks. You just never know that this runs in your family until it pops up!
Subject: SMA Research Needs SMA Moms
There is a new study that may help pave the way for SMA carrier screening to be offered to more women. Please help this study by calling Dr. Zadeh -- (650)721-1439. There is no blood work needed. There is no cost to you. Dr. Zadeh simply needs access to your medical records -- specifically the neck measurement of the fetus done around 10 weeks. Any mother who has or had a child with SMA can be part of this study.
From: Neda Zadeh, M.D. --
You are invited to participate in a research study on the possible association between Nuchal Translucency (NT) measurement and fetuses affected with Spinal Muscular Atrophy (SMA). Our goal is to determine whether there is an association between increased NT measurements and SMA. If so, diagnostic testing for SMA may be offered to women with increased NT and no evidence of a chromosome abnormality of the fetus. We are only recruiting mothers of children confirmed to have SMA by molecular testing.
Involvement in this study is entirely voluntary and confidential. It will require your permission to access particular medical records for both you and your child. Your participation will not involve invasive procedures such as blood draw or tissue sampling. There will be no monetary compensation for your participation.
If you are interested in participating, or would like to hear more about this study, please contact me at (650)721-1439.
Neda Zadeh, M.D.
Medical Genetics Fellow
Division of Medical Genetics