Panorama SNP-based non-invasive prenatal test can detect complete molar pregnancy

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. 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.

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. 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."