Women's Reproductive Health

At SignatureDx, we apply our technology of noninvasive liquid biopsy to combat several concerns to women’s health. Our involvement in women’s health is centered around prediction and early detection of specific conditions and complex diseases. Early detection of health conditions offers more time to prepare preventative health plans which could provide a more positive outcome for the patient.

Noninvasive Prenatal Screening

There is a growing need for accessible and low-risk prenatal screening as a proactive measure to assess the health of the pregnancy and discover signs of birth-related complications. Expectant mothers should be empowered with the knowledge to make informed decisions about concerns that may impact their health and the health of their baby.

Historically, amniocentesis and chorionic villus sampling (CVS) have been used for prenatal testing in high-risk pregnancies to detect genetic conditions and abnormalities, but these invasive procedures come with their own risks and should only be administered when necessary for confirmatory purposes.

nps_1

50%

of spontaneous miscarriages involve fetal chromosomal abnormalities
(Hassold et al., 1980)

20%

of infant deaths are directly related to birth defects
(Matthews et al., 2015)

10%

of clinical pregnancies have chromosomal abnormalities
(Nagaoka et al., 2012)

Our Solution

Noninvasive Prenatal Screening (NIPS) offers an effective way to detect the potential of genetic conditions and complications of pregnancy. Using maternal plasma, we look for DNA methylation biomarkers to evaluate the fetal genetic health at a low risk to both the mother and baby.

Noninvasive prenatal screening is recommended for all pregnancies, regardless of maternal age or chromosomal risks (Rose et al., 2020). By screening for genetic conditions and abnormalities early on in the pregnancy, expectant mothers can collaborate with their care team to determine if additional diagnostics testing makes sense.

Preterm Birth

Preterm birth—any birth that occurs before 37 weeks gestations—is associated with high risks of morbidity and mortality, making it a major health concern in obstetrics. Infants who survive preterm birth are often at a higher risk for chronic diseases and disabilities.

preterm_birth_2

12%

of U.S. births are preterm
(Witt et al., 2014)

1M

Every year, 1 million preterm infants die worldwide due to complications from preterm birth
(Blencowe et al., 2013)

20%

Over 21.5% of preterm infants are born with birth defects
(Board on Health Sciences Policy, Institute of Medicine, & Committee on Understanding Premature Birth and Assuring Healthy Outcomes. (2007))

Our Solution

The prediction of spontaneous preterm birth could allow for revised birth plans and other implementations to improve the likelihood of a healthy birth.

Rather than obtaining amniotic fluid or fetal blood, we are developing a solution using a maternal blood sample as a low-risk and minimally invasive method to identify DNA methylation biomarkers. These biomarkers may help predict the risk of pregnancy complications.

Endometriosis

Endometriosis is a gynecological disorder characterized by the presence of endometrial tissue outside its normal anatomic location. There is currently no known cure for the disorder, often causing many debilitating symptoms and a severe impact on a woman’s quality of life. Women with endometriosis have a high risk of infertility as well as developing endometriosis-associated ovarian cancer.

endometriosis_2

15%

15% of reproductive age women are impacted by endometriosis
(McLeod & Retzloff, 2010)

30-50%

30-50% of women with endometriosis experience infertility
(Bulletti et al., 2010)

Our Solution

Traditional diagnostics of endometriosis typically involve a laparoscopy—an invasive surgery that is often not a timely or accessible option for many patients. Our solution involves using patient plasma to look for DNA methylation biomarkers for minimally-invasive early detection of endometriosis.

References

  • 1 Blencowe, H., Cousens, S., Chou, D., Oestergaard, M., Say, L., Moller, A., Kinney, M., Lawn, J., Born Too Soon Preterm Birth Action, Born Too Soon Preterm Birth Action Group, & the Born Too Soon Preterm Birth Action Group (see acknowledgement for full list). (2013). Born too soon: The global epidemiology of 15 million preterm births. Reproductive Health, 10(1), S2-S2. https://doi.org/10.1186/1742-4755-10-S1-S2
  • 2 Eskenazi, B. & Warner, M. L. Epidemiology of endometriosis. Obstet Gynecol Clin North Am 24, 235-258, doi:10.1016/s0889-8545(05)70302-8 (1997).
  • 3 Hassold, T., Chen, N., Funkhouser, J., Jooss, T., Manuel, B., Matsuura, J., Matsuyama, A., Wilson, C., Yamane, J. A., & Jacobs, P. A. (1980). A cytogenetic study of 1000 spontaneous abortions. Annals of Human Genetics, 44(2), 151-164. https://doi.org/10.1111/j.1469-1809.1980.tb00955.x
  • 4 McLeod, B. S. & Retzloff, M. G. Epidemiology of endometriosis: an assessment of risk factors. Clin Obstet Gynecol 53, 389-396, doi:10.1097/GRF.0b013e3181db7bde (2010).
  • 5 Rose, N. C., Kaimal, A. J., Dugoff, L., Norton, M. E., American College of Obstetricians and Gynecologists’ Committee on Practice Bulletins—Obstetrics, Society for Maternal-Fetal Medicine, & Committee on Genetics. (2020). Screening for fetal chromosomal abnormalities: ACOG practice bulletin, number 226. Obstetrics and Gynecology (New York. 1953), 136(4), e48-e69. https://doi.org/10.1097/AOG.0000000000004084
  • 6 Witt, W. P., Cheng, E. R., Wisk, L. E., Litzelman, K., Chatterjee, D., Mandell, K., & Wakeel, F. (2014). Preterm birth in the united states: The impact of stressful life events prior to conception and maternal age. American Journal of Public Health (1971), 104(2), 73.
  • 7 Nagaoka, S. I., Hassold, T. J., & Hunt, P. A. (2012). Human aneuploidy: Mechanisms and new insights into an age-old problem. Nature Reviews. Genetics, 13(7), 493-504. https://doi.org/10.1038/nrg3245