PIRC members at Prenatal Dx meeting

PIRC members Marsha Michie and Stephanie Meredith are speaking this morning at the Cambridge HealthTech Institute’s 6th annual Advances in Prenatal Molecular Diagnostics meeting in Cambridge, Massachusetts.

Both Marsha and Stephanie are on the opening panel (with Brian Skotko and Louis Muglia), on NIPT In The Clinic. Contact us if you’d like more information about our presentations!

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No safety differences between cfDNA screening and diagnostic testing?

Spring BabyOne of the major selling points for prenatal cell-free DNA (cfDNA) screening has been that it will reduce the number of miscarriages resulting from invasive diagnostic tests–amniocentesis and CVS. However, a randomized controlled trial in France, just published (paywall) in the Journal of the American Medical Association, has found no evidence of this promised benefit.

The SAFE21 Study Group randomized “high risk” pregnant women in 57 French clinics to either go straight to invasive diagnosis or, alternately, to have cfDNA screening first. Those in the cfDNA arm of the trial received invasive testing only if the cfDNA screen returned positive results. There were just over 1000 women assigned to each arm of the trial. In the cfDNA arm, nearly all the women had cfDNA screening, and 84 women (8.3%) had follow-up invasive diagnosis. Yet the miscarriage rate for the cfDNA arm was identical to that for the invasive testing arm, in which 751 women (76.5%) had invasive diagnosis. In each arm 8 women (0.8%) experienced miscarriage. Furthermore, in the invasive testing arm, researchers discovered 11 chromosomal anomalies (1.5%) that would not have been found using cfDNA screening. Continue reading No safety differences between cfDNA screening and diagnostic testing?

First baby born in stem cell transplant study

Baby Elianna Constantino has made history. The world’s first in utero stem cell transplant trial has reported the birth of a baby with alpha thalassemia after giving the fetus a blood transfusion enriched with the mother’s blood stem cells. Elianna was born to Nichelle Obar and Chris Constantino in February. The couple, who are from Hawaii, are both carriers of alpha thalassemia, and their fetus was critically ill during the second trimester. But researchers at UC San Francisco and UCSF Benioff Children’s Hospital Oakland are conducting an early-stage trial that aims to help babies with alpha thalassemia using their mothers’ stem cells. Continue reading First baby born in stem cell transplant study

Natera pays $11M for fraudulent billing

We are a bit late in reporting this ruling, but in March Natera settled with the US government for over $11 million to resolve claims of fraudulent billing for its Panorama prenatal cfDNA screening test. The government held that from 2013 through 2016, Natera knowingly submitted improper claims for payment from TRICARE (the insurance program for the US military), the Federal Employees Health Benefits Program, and Medicaid. By using improper billing codes, Natera misrepresented the services for which they were billing, causing these agencies to pay for testing that they would not otherwise cover – such as cfDNA screening for low-risk pregnancies and for microdeletion syndromes. Continue reading Natera pays $11M for fraudulent billing

Are professional societies conflicted about cfDNA?

Prenatal cfDNA screening, often called NIPT, has given rise to many differences of opinion among professional societies. Recommendations about using cfDNA for prenatal screening have evolved slowly as studies have validated these tests – and, of course, as the tests themselves have changed and expanded over time. ACMG, representing medical genetics and laboratories, has tended to make the most expansive recommendations in favor of cfDNA screening, while ACOG, representing the bulk of obstetricians, has tended to be the most conservative group. Others, like ISPD, have usually fallen between the two extremes.

7_Week_ultrasoundCommercial cfDNA labs, for their part, have grumbled about what they see as an overly slow pace of accepting this new technology (although, by historical medical standards, it’s actually been quite fast). One of their long-standing complaints has been revived in a just-published commentary in Prenatal Diagnosis. Adam Wolfberg, formerly employed by Ariosa (the makers of the Harmony™ cfDNA screen), argues in this new commentary that professional bodies have an inherent conflict of interest that has led them to resist more enthusiastic recommendation for prenatal cfDNA screening. Maternal-fetal medicine (MFM) specialists, he argues, see their livelihood endangered by this new technology, which threatens to undermine the fetal ultrasounds that are their bread and butter. Continue reading Are professional societies conflicted about cfDNA?

ISPD issues new guidelines for prenatal genome-wide sequencing

pregnancy_dnaGenome-wide sequencing is increasingly being conducted on fetal tissues, either as whole exome sequencing (WES), whole genome sequencing (WGS), or targeted analysis that uses clinical panels. These kinds of prenatal sequencing are sometimes done when more standard genetic tests have not yielded helpful results to explain structural anomalies, or if a specific genetic condition is suspected that would not be detected through other prenatal tests. While such sequencing is more likely to yield a positive result, it comes with its own set of risks and challenges – for instance, it is more likely to detect variants of unknown significance and other results that lead to excessive testing and stress on parents without significant benefit.

The International Society of Prenatal Diagnosis (ISPD), in conjunction with the Society of Maternal Fetal Medicine (SMFM) and the Perinatal Quality Foundation (PQF), just issued a joint position statement on the use of genome-wide sequencing for fetal diagnosis. While they recognize that sequencing can be useful in some instances, they generally take a cautionary approach. Based on “lessons learned from existing prenatal testing,” along with currently available literature and a panel discussion at the most recent annual ISPD meetings, their consensus opinion includes the following points. Continue reading ISPD issues new guidelines for prenatal genome-wide sequencing

Study estimates population & prevalence of Down syndrome in nine U.S. states

As part of their series of studies reviewing demographic statistics to estimate prevalence and total population of individuals with Down syndrome, Dr. Brian Skotko and his team of researchers have now delved into the numbers for nine specific states. Based on their analysis, while pregnancies positive for Down syndrome are at an all-time high, the number of babies born has plateaued with the introduction of prenatal testing.  Continue reading Study estimates population & prevalence of Down syndrome in nine U.S. states