Finding Answers: Comprehensive Fetal and Neonatal Loss Panel
When families experience miscarriage, stillbirth, and neonatal loss, there are often many difficult questions. Why did this happen? Will it happen again? Is there anything that could have prevented the outcome? At PreventionGenetics, we are dedicated to helping answer these questions.
Losses Are Common
Miscarriages occur in 15% of clinically recognized pregnancies. Although the majority of these losses occur early, 2-3% are in the second trimester (van den Berg et al. 2012; Hardy and Hardy 2015). Stillbirths occur in approximately 1 in 160 pregnancies in the United States (Wou et al. 2014). Neonatal death affects approximately 4 million babies annually worldwide (Jehan et al. 2009).
At least 50% of early miscarriages, 25% of stillbirths and 20% 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. There are two major categories of genetic etiology for miscarriage, stillbirth, and neonatal death: chromosome abnormalities including triploidy, common aneuploidies (chromosomes 13, 18, 21, and X), other chromosomal imbalances (Wapner 2010), and single gene disorders, including, but not limited to, fetal akinesia syndrome, metabolic disorders, glycogen storage disorders, Noonan syndrome, and sudden cardiac death disorders (Wapner 2010; McPherson and Cold 2016; Sahoo et al. 2016).
The Fetal Concerns Panel includes sequencing and copy number variation detection of 40 genes.
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 syndrome, Smith-Lemli-Opitz syndrome (SLOS), Noonan Spectrum Disorders, Peroxisomal Disorders, Glycogen Storage Disorders, and Long QT Syndrome.
Our testing has been validated using whole blood (3-5 ml EDTA), umbilical cord blood (3-5 ml), fetal cell cultures (3-4 confluent T25 flasks from chorionic villus or amniocentesis cultures), DNA (5 ug at a concentration of at least 100 ng/ul), and fresh or frozen fetal tissue, including fetal placenta (2mm x 2mm x 2mm). As in all of our tests where there are risks for maternal cell contamination, we offer maternal cell contamination studies as a quality control measure for no additional cost.
Finding answers in tough situations is our expertise. However, at times, extensive testing may still leave unanswered questions. DNA Banking for Fetal Concerns is another service that we offer, which may provide hope for the future.
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American College of Obstetricians and Gynecologists. 2013. ACOG committee opinion. Washington, DC: American College of Obstetricians and Gynecologists.
Hardy K., Hardy, P.J. 2015. Translational Pediatrics. 4: 189-200. PubMed ID: 26835373
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