Prenatal genetic testing results wrong ‘81-93%’ of the time for rare conditions, NY Times investigation finds 

A new investigation carried out by The New York Times has revealed that prenatal blood testing results for rare conditions are ‘usually wrong’ – with grave predictions made by such tests proving to be incorrect between 81 and 93 per cent of the time.

New York Times reporters Sarah Kliff, Aatish Bharia and Adam Playford, who carried out the comprehensive investigation, said that they found that findings of rare genetic disorders are wrong ‘a surprising amount of the time’ when NIPT (non-invasive prenatal testing) is carried out.

Taking to Twitter to share the bombshell revaluations, Sarah Kliff wrote: “It turns out, the grave predictions made by those tests are usually wrong”. The team of reporters “spent months talking to experts, tracking down studies and analyzing data” to gather the shock findings.


Recently, commercialised prenatal screening tests available across the world that analyse fetal DNA in the mother’s blood have become increasingly common. These non-invasive early prenatal tests, known as NIPT, promise to inform expectant parents as early as ten weeks into a pregnancy. However, critics have said that  it is not made clear that these are screening and not diagnostic tests. 

Some people opt to carry out the testing because certain conditions run in their families, and learning of a likely condition may help them to feel better prepared for the arrival of their child by learning more, joining support groups, and so on. 

However, early genetic testing is also facilitating abortions with increasing frequency. It is no secret that parents have reported feeling huge stress from being pressured by doctors into considering abortion following NIPT. 


In October 2020,  a BBC report highlighted the pressure facing parents of children prenatally diagnosed with Down Syndrome. 90% of women who receive a positive prenatal non-invasive blood test for Down Syndrome go on to have an abortion in the UK.

“The support was only there if I chose an abortion,” Lorraine, mother of Jaxon, who loves swimming, cars, dinosaurs, Mickey Mouse, and was aged six at the time of the report, said. 

Emma Meller, whose little girl Jaimie also has Down Syndrome, said that she was offered abortion up to 15 times after her baby was prenatally diagnosed with the chromosomal condition.

“In all honesty we were offered 15 terminations, even though we made it really clear that it wasn’t an option for us, but they really seemed to push and really seemed to want us to terminate,” she told the BBC.

Other parents have shared stories of receiving incorrect results through prenatal testing — leading them, along with their doctors — to believe their babies have major disorders when they are, in fact, healthy.

A 2015 study acknowledged the possibility of receiving a false positive, and revealed some reasons for the misdiagnosis of genetic conditions, including harmless variations in a mother’s DNA that can trigger false positives in screening for chromosomal defects. 

From The New York Times story

“In just over a decade, the tests have gone from laboratory experiments to an industry that serves more than a third of the pregnant women in America, luring major companies like Labcorp and Quest Diagnostics into the business, alongside many start-ups.

“The tests initially looked for Down syndrome and worked very well. But as manufacturers tried to outsell each other, they began offering additional screenings for increasingly rare conditions.

“The grave predictions made by those newer tests are usually wrong, an examination by The New York Times has found. That includes the screening that came back positive for Ms. Geller, which looks for Prader-Willi syndrome, a condition that offers little chance of living independently as an adult. Studies have found its positive results are incorrect more than 90 percent of the time”.

In the report, eight women interviewed “said they never received any information about the possibility of a false positive, and five recalled that their doctor treated the results as definitive”.

The findings  are laid bare in this shocking graphic from The New York Times

C: NY Times


For these five tests, positive results are often wrong.

As prenatal tests have expanded to more rare conditions, a larger share of their positive results are incorrect. Some of the worst-performing tests look for microdeletions, which are small missing snippets of chromosomes.

Why these five tests?

Testing companies currently offer seven microdeletion screenings. But two syndromes — Langer-Giedion and Jacobsen — are so rare that there is not enough data to understand how well the tests work. A few other tests for conditions that are not caused by microdeletions are also widely offered, with varying degrees of reliability. The screenings for Patau syndrome (which often appears on lab reports as “trisomy 13”) and Turner syndrome (“monosomy X”) also generate a large percentage of incorrect positives, while the screenings for Down syndrome (“trisomy 21”) and Edwards syndrome (“trisomy 18”) work well, according to experts.

Sources: Figures are pooled from multiple studies: Diagnostic Labs (Labcorp, Baylor Genetics, Combimatrix); Natera (2021, 2017, 2017, 2014). The estimate for Wolf-Hirschhorn syndrome is based on limited data (one true positive and six false positives).

‘A decision about whether to have an abortion’

Interviews conducted by The New York Times with expectant mothers who had received false positives during their pregnancies, highlighted the trauma and stress caused by prenatal testing.

“In interviews, 14 patients who got false positives said the experience was agonizing. They recalled frantically researching conditions they’d never heard of, followed by sleepless nights and days hiding their bulging bellies from friends. Eight said they never received any information about the possibility of a false positive, and five recalled that their doctor treated the test results as definitive.”

One of the women interviewed for the report was Meredith Bannon. When Meredith’s prenatal test came back positive for DiGeorge syndrome, a condition that can cause a range of lifelong problems, including heart defects and learning disabilities, a nurse called and told her she and her husband would soon be confronted with “tough decisions” related to their child’s “quality of life.” Ms. Bannon took this to mean a decision about whether to have an abortion.

The call came as Ms. Ban on was driving to her parents’ home, with her young son in the back seat proudly wearing a “big brother” t-shirt. 

“I was coming home to tell them that I was pregnant, but instead I had to tell them the news I got this horrible result back,” Ms. Bannon recalled.

Further testing, however, showed that the initial result was, in fact, wrong. Her baby, now expected to be healthy, is due in April.

She is not alone in feeling pressure to consider abortion following a poor prenatal screening result. “Some women began tentatively planning abortions after receiving positive screenings,” the New York Times story states.

Another mother interviewed, Allison Mihalich, 33, told The New York Times that she also considered abortion when her screening indicated that her baby might haver Turner syndrome, a condition affecting female infants which can cause infertility and heart defects.

“I couldn’t help but have termination on my mind,” Ms Mihalich said. She was in the process of arranging an abortion before Indiana’s 22-week cut-off point. Studies, however, show that the tests’ positive results for the condition are wrong 74 per cent of the time. Indeed, Ms Mihalich’s test turned out to be a false negative.

An Irish tragedy — “Christopher was a normal, healthy baby” 

In Ireland, a recent example of the tragedy facilitated by prenatal testing can be recounted in the tragic case of baby Christopher Kiely who was aborted in the National Maternity Hospital. Baby Christopher’s life was ended after his parents were mistakenly told he had Trisomy 18, also known as Edward’s Syndrome, a rare genetic disorder that causes developmental delays due to an extra chromosome 18.

Prior to Ireland’s legalisation of abortion after the 2018 referendum, abortion was not permitted in such cases — however, the Repeal Campaign placed a huge focus on what they described as ‘fatal fetal abnormalities’ in their push for the legalisation of abortion. Before and during the referendum, the public heard of a series of personal stories that highlighted the experience of parents who had received a poor prenatal diagnosis and had travelled to the UK or Europe to end their pregnancies when told their expected child was likely to have a life-limiting condition.

These stories, which rarely highlighted alternative options for families facing a difficult diagnosis, including palliative care and emotional and practical help from support groups to continue with such pregnancies, had an undoubtedly huge impact on Irish voters, and was a key reason abortion was legalised in 2018 by popular vote.

Section 11 of Ireland’s new abortion act, enforced after that vote, paved the way for abortion without time limit for babies diagnosed with life-limiting conditions. 

It reads: “A termination of pregnancy may be carried out in accordance with this section where 2 medical practitioners, having examined the pregnant woman, are of the reasonable opinion, formed in good faith, that there is present a condition affecting the foetus that is likely to lead to the death of the foetus either before, or within 28 days, of birth.”

Four days after the president signed Ireland’s abortion act into law, Rebecca Price and her partner, Patrick Kiely, received the news they had been longing for. Rebecca was pregnant. After being told she would have to wait until she was 17 weeks for a scan at her local hospital, Rebecca chose to go private. 

She and Pat attended their first scan at the Merrion Fetal Health clinic, and to their joy, the news was positive and everything with the baby appeared to be perfect.  However, as she prepared to leave, the nurse at the clinic asked if she would be interested in doing a non-invasive prenatal test to check whether there was any sign of Down Syndrome (trisomy 21) or two other possible conditions, trisomy 18 and trisomy 13. 

In an indication of the financial aspect of prenatal testing, according to Rebecca, the nurse said that if she took the Harmony test that day, she would get it at a reduced rate. In her mind, Rebecca said she thought that at 35, as an older mother, there would “be no harm in getting any information we could” and thought if there was something detected, at least the couple could be in a position to prepare for it.

“We went across the road and had a coffee and thought about it,” Rebecca told the Irish Examiner. Following her reasoning, they couple rang back and said yes, they’d do the test. That afternoon she took the test. 

A week later, Rebecca received a call from consultant obstetrician Fionnuala McAuliffe at the NMH telling her that the test had detected Trisomy 18. The couple were told that if their baby survived birth, he wouldn’t live for long.

“We wanted to see if there was any way that there could be a chance that he might survive and live for a while at least,” Rebecca said.

The test is marketed at providing 99% accuracy, yet it is only designed to identify a “high risk” of the presence of the trisomies and a follow-up invasive test, which carries a risk of miscarriage, is required for confirmation.

At 15 weeks pregnant, Rebecca was asked to come in for a chorionic villus sampling (CVS) test, which promised to provide a definite diagnosis. The initial CVS result confirmed that the baby had a ‘fatal foetal abnormality’ and they were told to come in the following week for a consultation about ‘how to proceed’. 

Whilst the couple asked if there was any hope for their baby, in the end “we were told that the results were definite, that this was full-blown Trisomy 18 and the final result would only show if there was something else wrong as well,” according to Rebecca.  “I asked were we being told there was no hope and she said yes.”

They were advised the best course of action would be to seek an abortion. They went through with the abortion.

Yet just two weeks after saying goodbye to their baby boy, the results of the test, which were processed in a lab in Glasgow, found no evidence of the Trisomy 18. 

After the abortion of their baby, Christopher’s devastated parents went on to win a court case against the hospital, five consultants from Merrion Fetal Health Clinic and the laboratory for the ‘wrongful’ abortion. The couple said that they had made it “absolutely clear” in early March 2019 to Professor Fionnuala McAuliffe that they only considered her advice to have an abortion because they were told their baby had no chance of survival.

“Christopher was a normal healthy baby boy,” the devastated couple said in a statement read outside court after liability was conceded by the defendants in the case. In June 2021, the couple said there has been “no apology from anyone associated with the case” almost two years on from the devastating abortion of their baby.

Speaking in August 2021, Rebecca Price, Christopher’s mother, told RTE Radio 1 listeners of the couple’s ‘horrendous’ loss.

“It’s absolutely horrendous… there’s no words [for this grief],” Rebecca told the programme, over two years on from the devastating abortion.

Speaking about how the loss of her little boy has changed her, Rebecca said she’s no longer as outgoing and the loss has “put me into a cave of despair and isolation”. 

Although a hugely difficult testimony to tell, the couple are determined to ensure their tragic story is heard to try to prevent a similar tragedy happening to another family. Rebecca has told Irish media that clinicians must be counselling couples based on accurate and full information.

“We feel there needs to be a deep dive into these cases and to see if this happened to anyone else.

“And to ensure moving forward, that if clinicians are counselling parents through something life changing they’re doing it based on all the information and accurate information.”

The couple believe their trauma has been compounded by how the tragedy was dealt with by the maternity hospital in question, Holles Street, and a State that appears unable to take control of the situation following the legalisation of a broad-based abortion law in 2019.

“We are different people than we were before this,” Patrick told the Irish Examiner, adding that: “Part of that is down to the tragedy, but the other thing is closure. 

“There is still the ongoing risk as far as we are concerned. The risk to other couples has not been addressed.”

While the couple were told Trisomy 18 was a ‘fatal, foetal abnormality,’ that is not a medical term, and advocates for better care point out that babies diagnosed with Trisomy 18 often live after birth, sometimes for days, and in some cases, even for years.

In The New York Times report, three US geneticists also recount recent tragic examples in interviews. One geneticist described a harrowing case in which the follow-up testing also revealed the baby was healthy. But by the time the results came back, the patient had already had an abortion.

NIPT: Driven by bottom lines?

Prenatal testing has created a lucrative industry, with companies generating a substantial amount of money selling early-gestation, prenatal blood tests that search for rare conditions beyond Down Syndrome. 

Some experts consulted during the NYT investigation said the blood screenings that look for the rarest conditions are “good for little more than bolstering testing companies’ bottom lines”.

As previously covered by David Mullins for Gript, there is big money to be made from prenatal testing.

As he writes here, “Indeed, the British Medical Council (BMC) has long recognised that the relationship between the health science industries and the medical profession can give rise to competing interests.  Identifying some of the competing interests that can arise, the BMC states that personal financial interest is a clear factor: 

“’Personal financial interest – the possibility of financial gain, either personally or in relation to a family member – may include direct or indirect payments or financial interests in health providers or products. Non-personal financial interest – the possibility of payment or other benefit to an organisation in which you are employed, including research grants, grants or sponsorship to posts or members of staff.'”

He adds: “The Irish Medical Council is equally clear regarding the risks surrounding competing interests:

“You should not accept gifts (including hospitality) from pharmaceutical, medical devices or other commercial enterprises. This does not prevent you attending educational meetings or receiving payment of reasonable fees for professional services to commercial enterprises. You should be aware that even low-value promotional materials can influence prescribing and treatment decisions,” it states.”

The Harmony Test — which was taken by baby Christopher Kiely’s parents only after they were offered it — has become one of the most popular forms of NIPT in Ireland. 

Manufactured by Eurofins Biomnis, it has significantly expanded its laboratories and facilities in Dungarvan, allowing the Group to double the volume of samples tested annually at this site and offers nationwide services seven days a week. The information provided on its worldwide revenue indicates that it generated a staggering €1.743 billion in 2018 up from €1.396 billion in 2017. 

Despite promises made by marketing teams that NIPT is highly reliable, Aatish Bhatia, one of the investigative reporters behind the New York Times’ report, said that he and colleagues “found a stark contrast between what companies advertise and how some of their tests actually perform”.

Alberto Gutierrez, the former director of the FDA office that oversees many medical tests, reviewed marketing materials from three companies offering NIPT and described them as “problematic.” 

 “I think the information they provide is misleading,” he told reporters. 

Patients who receive a positive result are advised to pursue follow-up testing, which often involves a drawing of amniotic fluid or a sample of tissue from the placenta. However, these tests are not always accessible to patients, seeing as they can sometimes be costly, and can be highly invasive, carrying a small risk of miscarriage. Moreover, they often cannot be performed until later on in the pregnancy, and often past the point where abortion is legally permitted. 

In reality, there is a huge and crucial difference between a prenatal test that can detect a potential problem and one reliable enough to diagnose a life-threatening condition for certain: the screening test only does the former.

According to The New York Times, the companies have “known for years that the follow-up testing doesn’t always happen,” and sadly, that many parents revert to abortion without getting another test to confirm the result of the initial one. A 2014 study found that 6 per cent of patients who screened positive had an abortion without getting a second test. Also in 2014, The Boston Globe quoted a doctor who described three abortions following unconfirmed positive results.

A 2014 study found that 6 percent of patients who screened positive obtained an abortion without getting another test to confirm the result. That same year The Boston Globe quoted a doctor describing three terminations following unconfirmed positive results.

According to Mary Norton, an obstetrician and geneticist at the University of California, San Francisco, “It’s a little like running mammograms on kids. The chance of breast cancer is so low, so why are you doing it? I think it’s purely a marketing thing.”

The New York Times said that the Food and Drug Administration (FDA) does not regulate these prenatal tests, or the marketing claims manufacturers make. 

Such testing, regarded as mostly unnecessary, illustrates an approach to healthcare which strives to “avoid every possible risk” that makes costs unmanageable. The reality that results can have an 81-93% likelihood of showing a false positive rarely makes its way into patient brochures, or laboratory result sheets — because of a lack of regulation of tests or the marketing claims that accompany them.

Marketing communication is much more likely to refer to “clear answers” and “information you can trust” that will lead to peace of mind – when, in fact, testing often has the opposite effect. 


In October 2021, a leading Irish support network called for safeguards to be put in place after a study revealed that NIPT for the screening of chromosomal abnormalities in twin pregnancies showed correct results just 15.4% of the time.  

Vicky Wall of support group, Every Life Counts, described the results of the study as “shocking” and said that most people who had been led to believe that such tests were almost infallible would find the percentage of false positives “truly alarming”.

“Parents are told that these tests are reliable and very accurate – and are often pushed towards abortion on the basis of these results. The results of this study underline the need for safeguards and for medical professionals to exercise caution and to avoid advising parents towards a course of action that may have devastating consequences.

Ms Wall pointed to the case of baby Christopher Kiely, a case which she said has rocked Irish maternity services. 

It’s frightening to think that this new study shows that 85% of the results were incorrect for twin  pregnancies,” Ms Wall said. “We need to be assured, especially after the tragic case of baby Christopher, that safeguards will be put in place so that parents are not misinformed and not pushed towards abortion.”

In response to the report, Twitter users called for those in the medical field to pay serious attention to the findings, whilst calling for regulation for the ‘high-risk’ tests.


Responding to the story, parents took to social media to share their personal stories of receiving a false positive after undergoing prenatal testing.

“This happened during my second pregnancy. Upon giving us upsetting news based on the results from one of these tests, our doc said, “Whatever you decide to do, we don’t judge here.” My baby was born 6 months later. Absolutely perfect,” one user wrote in response to the thread.


Sharing her experience on Instagram, one mother wrote: “I received a very difficult diagnosis, and we had counselling scheduled. I asked that the option of termination never even be spoken about in front of us. Our diagnosis proved to be incorrect on so many levels…astonishingly so. I wish instead the narrative was ‘your baby may have a difficult road ahead, but here is how we can help and support you’.”

Share mdi-share-variant mdi-twitter mdi-facebook mdi-whatsapp mdi-telegram mdi-linkedin mdi-email mdi-printer mdi-chevron-left Prev Next mdi-chevron-right Related
Comments are open

The biggest problem Ireland faces right now is:

View Results

Loading ... Loading ...