MARSHFIELD, Wis. – PreventionGenetics has launched a first-of-its kind “Comprehensive Miscarriage, Stillbirth and Neonatal Death” panel designed to answer difficult questions and provide answers for families.
“When families experience miscarriage, stillbirth, and neonatal deaths, there are often many difficult questions around why it happened,” said Dr. Elizabeth McPherson, Medical Geneticist and Director of the Wisconsin Stillbirth Service Program. “Couples who experience these kinds of challenges are compelled to seek answers to questions like whether the event will happen again and if it could it have been prevented. Genetic testing can sometimes open the doors to answers.”
Miscarriages occur in 15 percent of clinically recognized pregnancies. Stillbirths occur in about one in 160 pregnancies in the United States. Neonatal death affects about 4 million babies annually worldwide. At least 50 percent of early miscarriages, 25 percent of stillbirths and 20 percent of neonatal deaths are due to abnormalities of the developing infant, most of which have a genetic basis. Genetic testing is important because many of these birth defects are difficult to recognize clinically. The two major genetic etiologies for miscarriage, stillbirth, and neonatal death are chromosome abnormalities and single gene disorders.
The Comprehensive Miscarriage, Stillbirth, and Neonatal Death Panel includes Chromosomal Microarray (CMA-ISCA) followed by a 40-gene NextGen sequencing panel in cases with a normal microarray result. Chromosomal microarray (CMA) testing has been suggested as a first line test in both miscarriages and stillbirths because it does not require growing cells, as karyotyping does, and it will also detect submicroscopic imbalances. In the case of a negative CMA, the test would reflex to the 40-gene panel of single gene disorders, developed under collaboration between dual-certified molecular geneticist and cytogeneticist, Dr. Diane Allingham-Hawkins, and Dr. McPherson, who has more than 30 years of experience evaluating stillbirths and neonatal deaths.
“This one-of-a kind panel encompasses several classes of genetic disorders that would be expected to increase the risk of miscarriage, stillbirth, or neonatal death, including Fetal Akinesia/Lethal Multiple Pterygium syndrome, Smith-Lemli-Opitz syndrome, Noonan Spectrum Disorders, Peroxisomal Disorders, Glycogen Storage Disorders, and Long QT Syndrome,” said McPherson.
As a gold sponsor of Seattle Children’s Pediatric Laboratory Utilization Guidance Services (PLUGS®), PreventionGenetics offers cost-effective testing strategies that align with utilization management best practices. The PreventionGenetics panel includes chromosomal microarray followed by the NextGen sequencing panel only in cases with a normal microarray result, in efforts to offer a cost effective testing strategy. The NextGen sequencing panel can also be offered individually if CMA has already been performed.
Testing through PreventionGenetics can lead to diagnosis and answers that have huge impact on families for multiple generations. In cases where the test does not yield a diagnosis, reflex to whole exome sequencing is available for a small additional cost. In addition, fetal DNA banking is available that would allow for future testing as science advances. For more information, contact PreventionGenetics.
About Prevention Genetics
PreventionGenetics, LLC is a CLIA-accredited and ISO certified lab that offers clinical molecular diagnostic testing for nearly 2,000 clinically-relevant genes. We offer a rapidly growing set of NextGen panels, single gene tests, and deletion/duplication testing via our high-density gene-centric aCGH and CMA, as well as cancer testing. We also offer an affordable DNA banking service.