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Charlotte Lozier Institute

Phone: 202-223-8073
Fax: 571-312-0544

2776 S. Arlington Mill Dr.
#803
Arlington, VA 22206

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Charlotte Lozier Institute

Phone: 202-223-8073
Fax: 571-312-0544

2776 S. Arlington Mill Dr.
#803
Arlington, VA 22206

Fetal Development

Non-invasive Prenatal Screening Expands Disability Discrimination Abortion

recent report on prenatal genetic screening from the New England Center for Investigative Reporting has caused quite a stir.  The report showed significant inaccuracies in non-invasive (i.e., using blood tests and not invasive means such as chorionic villus sampling and amniocentesis) prenatal screening and told the stories of a number of women who chose to terminate based on these inaccurate test results.  The report, which is the result of a three-month investigation by the group, found that prenatal testing companies are overselling the accuracy of their screening tests and doing little to inform parents and doctors of the major risk of unreliability of these test results – a circumstance that can lead to a multitude of problems.

Since the first of these tests was introduced by Sequenom in late 2011, three other companies now offer some variation of the same test.  All claim to offer expectant parents the chance to know with almost 100% accuracy, and as early as 10 weeks into a pregnancy, the likelihood that the developing baby has any genetic abnormalities such as Down syndrome, Edwards syndrome (trisomy 18), Patau syndrome (trisomy 13), or a few other chromosomal anomalies.

Prenatal screening, when used to facilitate discrimination against a child with a disability, is never acceptable. The added complication these tests provide to traditional screening methods is that their claims of accuracy lead many women to choose to abort their babies based solely on these screening results. This report gives evidence that some women are discovering that the inflated claims of the manufacturers have been inaccurate, and that their child was perfectly healthy – or aborted with no rationale at all. Data from Quest Diagnostics shows that a positive result for Edwards syndrome in older mothers is only accurate 64% of the time.  Moreover, additional research from Illumina, manufacturer of genomic testing equipment and the Verify prenatal test, showed that younger mothers evince an even higher chance of error in testing results for Edwards syndrome. Only 40% of these tests were determined to be accurate.

However, other aspects of the story are also striking and call for further discussion.  The first issue is that these popular prenatal tests are completely unregulated by the Food and Drug Administration.  Due to a loophole dating back to the 1970’s, these sorts of screening tests are not subject to the same scrupulous attention as other medical devices or procedures.  This despite the momentous decisions parents make based on these test results. In September, the FDA did publish draft regulations for the screening industry – however, these regulations are not expected to be fully implemented for at least nine years and the screening industry is expected to challenge their legality.

Secondly, before these tests are performed or their results delivered, too little emphasis is placed on the fact that these tests are merely screening and not diagnostic tests. While the manufacturers recommend that a positive indication on the test should be confirmed with an invasive test such as an amniocentesis, some parents are choosing to abort their unborn children based entirely on these screenings – in fact, 22 out of 356 babies in one study conducted by Natera, manufacturer of the Panorama test.

By way of comparison, a common screening test among men of a certain age is a PSA, a blood test which may indicate prostate cancer.  However, no doctor would move to operate merely because of a high result on a PSA, as it only indicates the possibility of prostate cancer.  Doctors would instead conduct a diagnostic test and biopsy before delivering a diagnosis and recommending a course of action. The fact that mothers are basing decisions on preliminary tests that only indicate the possibility of a chromosomal disorder is profoundly disturbing.  “The companies have done a very poor job of education [and] advertising this new technology, failing to make clear that it is screening testing with very good but not perfect test performance…and that doctors are recommending, offering, ordering a test they do not fully understand,” said Dr. Michael Greene, director of obstetrics at Massachusetts General Hospital.  Both doctors and testing companies need to make clear to expectant parents that these screenings are not definitive and can be inaccurate.

Even more troubling is the casual assumption that the tragedy of these inaccurate tests lies only in the fact that healthy babies are being terminated and, in some cases, babies with certain disorders are being born.  If these screenings were completely accurate, they would still be problematic if they were used to eliminate children whose lives have been judged as having less value due to disability.  While the health of the unborn child should be of prime importance during pregnancy, the discovery of a health issue or abnormality should not result in the immediate decision to terminate but instead in the provision of options for treatment or possibly perinatal hospice care.

As techniques to explicate the entirety of an individual’s inherited DNA advance, the conditions for which abortion will be recommended will almost certainly expand.  Intellectual forces are already hard at work attempting to protect decisions for abortion based on any health issue, even minor conditions and illnesses that will appear later in the individual’s life.  Inaccurate testing of more and more existing and potential debilities only sharpens the human tragedies that result when science and medicine turn away from the dignity of every human life.

Nora Sullivan is a research assistant at Charlotte Lozier Institute and is pursuing graduate studies overseas.

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