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Provider Blog

Microarray Testing, A Prime Solution in Diagnosing Neurological Disorders

07 Jul 2017
James W Wheless, MD, FAAP, FAAN
Historically, epilepsy and other common neurological disorders such as autism have been described based on their clinical features. They were grouped this way to assess response to treatment and to aid in diagnosis. In the modern era, genetics increasingly plays a role in determining these disorders’ etiology and influencing treatment decisions. For children with autism spectrum disorder, a chromosomal microarray analysis is indicated as part of the initial diagnostic evaluation for all children. Additionally, other...
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Finding Closure to my Miscarriage (Part II)

04 May 2017
Stefanie Castro, RN, BSN, CD, CPD
When you last heard from me, I was awaiting test results on a child I miscarried nearly 5 years ago but never got answers to as “why”. Finding out about CombiMatrix and having this opportunity fell in my lap, so to speak. I wasn’t looking for answers at the time, but when the chance presented itself to learn why I suffered such a tragedy, I felt the need to pursue it and was eager to...
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The Importance of Genetic Testing for Stillbirth and Miscarriage

27 Apr 2017
Thomas Westover, MD, FACOG
The American College of Obstetrians and Gynecologists (ACOG) notes in Practice Bulletin #102, “Management of Stillbirth”, that stillbirth (a.k.a intrauterine fetal demise, IUFD, or fetal death) is one of the most common adverse obstetrical outcomes, occurring in approximately 1 in 160 births at ≥20 weeks of gestation. These tragic losses affect approximately 26,000 patients per year in the USA and more than two million patients per year across the globe. Miscarriage (the loss of a...
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Finding Closure to my Miscarriage?

04 Apr 2017
Stefanie Castro, RN, BSN, CD, CPD
As I stand in my backyard, I am processing the fact that in the weeks to come I’ll have answers for which I’ve waited years and that I never imagined possible. These answers revolve around the unborn baby I lost nearly 5 years ago. I lost this baby with no real explanation as to why the miscarriage occurred and I’m flooded with emotion realizing that soon I’ll actually know more about this child. It’s surreal...
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The Shifting Paradigm in Prenatal Screening

23 Mar 2017
Kathy Salari, MD
Every parent wants a healthy baby. The purpose of prenatal screening and testing is risk stratification and diagnosis of pregnancies affected by an anatomic or genetic abnormality. Results from prenatal testing help inform parents about the health of their baby, as well as guide pregnancy management. Historically, prenatal screening and testing primarily focused on the detection of Down syndrome, as the incidence increases with maternal age and accounts for almost half of all cases of...
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Loss in the Eyes of a Nurse…

02 Mar 2017
Stefanie Castro, RN, BSN, CD, CPD
As I write this entry, I am reminded of being in the hospital, holding the hands of all those patients who were experiencing one of the worst days of their lives. I had not yet experienced my own miscarriage, however, I found a way to be there and nurture so many families when they were faced with this horrible news. I think two things can occur from caring for patients who suffer loss: either you...
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Understanding High-Density versus Targeted Sequencing for PGS

24 Feb 2017
Matthew C. Goering Ph.D., HCLD
Understanding High-Density versus Targeted Sequencing for PGS The newest and most widespread method used for preimplantation genetic screening (PGS) available to practitioners and patients today, involves the use of Next Generation Sequencing (NGS) technology. I will admit that I was hesitant to endorse the new technology when it first became available because there were only a few published studies describing the application of this powerful genomic technology for PGS, and there was little consistency in...
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