The report by Sumitra Deb Roy can be accessed at this link. Below is the report with how almost every sentence is wrong following in italics in brackets.
Down’s Syndrome detection with zero risk to mother and baby now in Mumbai
MUMBAI: A new revolutionary technology called NACE (Non-invasive Analysis for Chromosomal Examination) with more accuracy as compared to 1st trimester screening has been introduced in Mumbai. [has not been shown more accurate in all populations] It can detect chromosomally linked diseases like Down’s syndrome with a simple blood test. [disease? Down syndrome is not contagious] It can precisely tell a pregnant mother, as early as three months into her pregnancy, whether her child suffers from Down’s syndrome. [again not in all populations, and “suffers?” really? when 99% of individuals with Down syndrome say they are happy with their lives?]
Currently, tests such as amniocentesis and Chorionic Villus Sampling (CVS) are widely used to detect any chromosomal abnormality but these tests are invasive and carry a high risk resulting in a miscarriage. [the risk of miscarriage is typically less than 1 percent] The NACE test is performed on the cell free fetal DNA, which is extracted from the mother’s blood via a simple blood draw, hence posing zero risk to the baby and to the mother. [the test is of placental DNA, not fetal DNA; given the high termination rate following a prenatal result, it can hardly be said to pose “zero risk to the baby“]. It is done from the 10th week to the 16th week of pregnancy, giving enough time for the woman to be counseled accordingly. [non-invasive testing can be done at any time after 10 weeks, including past the 16th week. And, what does “enough time for the woman to be counseled accordingly” mean? I suspect Voldemort.]
NACE test has a 99% specificity of either confirming or ruling out genetic disorders such as Down’s syndrome. [not in all populations, particularly low-risk populations] In case NACE confirms the possibility of a genetic disorder; invasive amniocentesis can be done to validate the results. The main advantage of using NACE is that it is non-invasive and it poses zero risk to fetus and has no risk of abortion,” said Dr Ashish Parulekar, gyanecologist and IVF specialist. [again, not exactly “zero risk to fetus” given the high likelihood of abortion following a positive result]. He added that the test is especially suitable for women with a high risk of chromosomal abnormalities after the 1st trimester screening (scan and hormonal analysis, double and triple marker test) or who have had a previous pregnancy resulting in Down’s syndrome, Edward’s syndrome, Patau’s syndrome or sex linked abnormalities. [it’s not “especially suited” for high-risk moms: the International Society for Prenatal Diagnosis only recognizes non-invasive prenatal screening, like NACE, for women considered high-risk].
Every year approximately 23,000 to 29,000 children are born in India with Down’s syndrome in India. Around 85-90% of such cases can be detected if pregnant mothers opt for genetic screening.
According to Dr Pere Mir, medical director of Iviomics, “NACE is a revolutionary screening test offering a highly accurate analysis by using the latest next-generation sequencing technology. This simple and safe analysis averts the risk of fetal loss present in amniocentesis procedure, hence available for every pregnant woman.” [Again, the ISPD, which would be the relevant professional organization, does not recognize NIPS for “every pregnant woman.”]
It appears obvious that the reporter Sumitra Deb Roy cut-and-pasted from an Iviomics press release about its version of NIPS, which it calls NACE. If only Roy had read this collection of what we’ve learned about non-invasive prenatal screening, including its limitations, these inaccuracies could have been avoided.
Future posts will focus on what NACE means for India and how Iviomics markets its version of NIPS. Not to spoil the analysis, but this first impression is reflective of the ethically problematic statements Iviomics makes about its testing.