Observing Pregnancy and Infant Loss Awareness Month
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Pregnancy and infant losses affect women and families every day. The prevalence of these tragic losses led President Ronald Reagan to designate October as National Pregnancy and Infant Loss Awareness Month in 1988. Miscarriages are both common and distressing complications of early pregnancy, occurring in 15% of clinically recognized pregnancies. The majority of miscarriage losses occur early; however, 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 and unknown causes remain the most common contributor (Wou et al., 2014). Neonatal death affects approximately 4 million babies worldwide out of the estimated 130 million infants born each year. The majority of these deaths occur within the first week, with the first 24 hours being the most common time of loss (Jehan et al., 2009).
Why does this happen?
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. The major genetic cause is chromosomal abnormalities, including aneuploidy, triploidy, and unbalanced chromosomal rearrangements. The most common form of aneuploidy is trisomy 21 (Larsen et al., 2013). Chromosomal analysis of tissue from an early miscarriage offers an explanation in at least 50% of cases (Jeve and Davies, 2014; Sahoo et al., 2016). A smaller but significant proportion of stillbirths and neonatal deaths are caused by chromosomal abnormalities. The second major genetic etiology for miscarriage, stillbirth, and neonatal loss is single gene disorders including fetal akinesia syndrome, metabolic disorders, glycogen storage disorders, Noonan syndrome, and sudden cardiac death disorders (Wapner, 2010; McPherson and Cold, 2016).
What can we do?
Genetic testing often plays an important role in pregnancy and infant loss because many of these birth defects are difficult to recognize clinically. At PreventionGenetics, we have developed an innovative test to aid in the understanding of these events. Our Fetal Concerns Panel currently includes sequencing and copy number variation analysis of 40 genes via NextGen sequencing. The panel covers the following disorders (among others): Fetal Akinesia/Lethal Multiple Pterygium syndrome, Smith-Lemli- Opitz syndrome (SLOS), Noonan Spectrum Disorders, Peroxisomal Disorders, Glycogen Storage Disorders, and Long QT Syndrome. If the Fetal Concerns Sequencing Panel is negative, there is the option to reflex to PGxome? whole exome sequencing (WES) to evaluate all clinically relevant genes.
Excitingly, we are now offering at PreventionGenetics Copy Number Variant (CNV) detection with all of our exome-based sequencing tests, including the Fetal and Neonatal Loss Panel. There will be no extra charge for CNV detection. CNV detection via exome sequencing is equally or more sensitive than CMA. This new option provides the opportunity to bypass standard CMA testing (Reddy et al., 2012; Sahoo et al., 2016) resulting in considerable savings in both dollars and time. While miscarriage and neonatal loss are unfortunately common, our hope is to be able to identify the reason for your patients’ loss(es) to provide closure and accurate recurrence risk estimates. For situations where an answer is not found, families have the option of banking the remaining fetal DNA for future testing.
References:
Hardy and Hardy, 2015. PubMed ID: 26835373
Jehan et al., 2009. PubMed ID: 19274365
Jeve and Davies, 2014. PubMed ID: 25395740
Larsen et al., 2013. PubMed ID: 23803387
McPherson and Cold, 2016. PubMed ID: 26373818
Reddy et al., 2012. PubMed ID: 22467168
Reddy et al., 2012. PubMed ID: 23215556
Sahoo et al., 2016. PubMed ID: 27337029
Van den Berg et al., 2012. PubMed ID: 26099443
Wapner, 2010. PubMed ID: 20661047
Wou et al., 2014. PubMed ID: 24902725