First Confirmed Detection of a Complete Molar Pregnancy with Cell-Free DNA Test
Precancerous condition identified in first trimester with PanoramaTM prenatal screen
SAN CARLOS, Calif., May 28, 2015 /PRNewswire/ — Natera, Inc., a leader in non-invasive genetic testing, today announced a study published in Ultrasound in Obstetrics & Gynecology demonstrating that the Panorama single-nucleotide polymorphism (SNP)-based non-invasive prenatal test (NIPT) can identify a complete molar pregnancy in the first trimester.
A study based upon data collected in the UK indicates that complete molar pregnancies occur in about 1 in 1,000 pregnancies, although other studies have reported higher incidences of molar pregnancies in several Asian countries and in women over 40.1,2 Diagnosis of complete molar pregnancies can be made using various techniques, including ultrasound. However, during the first trimester, diagnosis may be more difficult and misclassified as a miscarriage.
Normally, a baby has one set of chromosomes from its mother and one from its father. In a complete molar pregnancy, both sets of chromosomes are from the father, a condition known as paternal uniparental disomy (UPD). Panorama’s unique methodology, which incorporates genetic information from both parents, can identify the parental origin of fetal cell-free DNA in maternal blood samples and, therefore, detect UPD. Other NIPT methods, which only count the number of chromosomes, cannot detect this abnormality.3
Early diagnosis of a complete molar pregnancy is important because this condition may be associated with medical complications, such as hemorrhaging, and therefore requires increased caution during surgical removal of the abnormal tissue. Of greater concern, in 15% of cases of complete molar pregnancies, following removal of the molar tissue, there may be evidence of persistent disease with invasion of the uterus. Even more serious and life threatening, in 4% of complete molar pregnancy cases, metastatic cancer may be present.4 Therefore, in all cases of this condition, surveillance, expert follow up and management are indicated and when necessary, potentially curative therapies are available.
“Natera’s research continues to lead the way in the field of non-invasive genetic testing,” said Susan Gross, M.D., chief medical officer of Natera and senior author of the paper. “We are pleased that Panorama can identify a complete molar pregnancy at such an early stage, and allow physicians to take potentially life-saving measures when necessary for the health of expecting mothers.”
The study, entitled Detection of a complete molar pregnancy by single nucleotide polymorphism-based noninvasive prenatal testing can be found online at onlinelibrary.wiley.com.
- Froeling FEM and Seckl MJ. Gestational trophoblastic tumours: An update for 2014. Curr Oncol Rep 2014; 16: 408-417
- Lurain JR. Gestational trophoblastic disease I: epidemiology, pathology, clinical presentation and diagnosis of gestational trophoblastic disease, and management of hydatidiform mole. Am J Obstet Gynecol 2010; 203: 531-539.
- Norwitz ER and Levy B. Noninvasive prenatal testing: The future is now. Rev Obstet Gynecol 2013; 6: 48-62.
- Berkowitz RS and Goldstein DP. Molar pregnancy. N Engl J Med 2009; 360: 1639-1645.
Panorama is a safe and simple way for expectant mothers to learn about the health of their baby without an invasive diagnostic procedure. Panorama uses a simple blood draw from the mother to examine fetal cell-free DNA in maternal blood for chromosomal abnormalities, including trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), trisomy 13 (Patau syndrome), monosomy X (Turner syndrome) and triploidy. Panorama is also able to screen for five genetic abnormalities due to microdeletions, which are small pieces of DNA that are missing from specific chromosomes. The test can be performed as early as nine weeks of gestation without any risk to the fetus.
Natera is a genetic testing company that develops and commercializes non-invasive methods for analyzing DNA. The mission of the company is to help families diagnose and manage genetic disease. In pursuit of that mission, Natera operates a CAP-accredited laboratory certified under the Clinical Laboratory Improvement Amendments (CLIA) in San Carlos, CA, and currently offers a host of proprietary genetic testing services primarily to OB/GYN physicians and fertility centers. Tests include pre-implantation genetic screening and diagnosis to identify chromosomal anomalies or inherited genetic conditions in embryos during in vitro fertilization (IVF); miscarriage testing to rapidly analyze fetal chromosomes to understand the cause of a pregnancy loss; carrier screening tests to detect whether parents carry genetic variations that may result in disease in their child; and Panorama™, a safe, simple test for pregnant women that screens for the most common chromosomal anomalies in a fetus as early as nine weeks of gestation.
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