PreventionGenetics Presents New Genetic Tests to Answer Questions on Stillbirths, Miscarriages, and Neonatal Death

February 1, 2017

Experiencing a miscarriage, stillbirth, or neonatal death can be devastating. It can leave parents with a lot of questions, like will it happen again or can it be prevented? A new panel may now be able to help answer these questions.

Dr. Elizabeth McPherson, Medical Geneticist and Director of the Wisconsin Stillbirth Service Program, and PreventionGenetics Laboratory Director Dr. Diane Allingham-Hawkins joined Sunrise 7 on The Doctor Is In segment to talk about the problems many families face and details on PreventionGenetic’s Comprehensive Miscarriage, Stillbirth and Neonatal Death panel.

McPherson said “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.”

According to PreventionGenetics, 15 percent of clinically recognized pregnancies are miscarriages. About 1 in 160 pregnancies in the U.S. are stillbirths, and neonatal deaths happen to about four million families globally. A large percentage, including 50 percent of miscarriages are due to abnormalities of the developing fetus, often including a genetic component. This new genetic testing will help figure out why the deaths occurred. (source)

The Panel

The Comprehensive Miscarriage, Stillbirth, and Neonatal Death Panel includes Chromosomal Microarray (CMA-ISCA) followed by the 40 gene NextGen sequencing panel in cases with a normal microarray result. Chromosomal microarray (CMA-ISCA Test Code 2000, $990) and the Miscarriage, Stillbirth, and Neonatal Death NextGen Sequencing Panel (Test Code 4777, $1590) may also be ordered individually.

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 (Reddy et al. 2012; American College of Obstetricians and Gynecologists 2013; Sahoo et al. 2016). If this is negative, the test would reflex to the 40 gene panel of single gene disorders.

The 40 gene NextGen sequencing panel was developed under collaboration between dual-certified molecular geneticist and cytogeneticist, Dr. Diane Allingham-Hawkins, and Dr. Elizabeth McPherson, experienced Medical Geneticist and Director of the Wisconsin Stillbirth Service Program, 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. Disorders include Fetal Akinesia/Lethal Multiple Pterygium syndromeSmith-Lemli-Opitz syndrome (SLOS)Noonan Spectrum DisordersPeroxisomal DisordersGlycogen Storage Disorders, and Long QT Syndrome.

Learn more about PreventionGenetic’s testing options at their site here.


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