A husband who turned to Reddit after a prenatal screening test result suggested he and his wife's baby may have a condition was ultimately convinced by Reddit users that they shouldn't go through with an abortion.

Key Takeaways:

• Turner syndrome is a genetic condition affecting females that causes short stature, infertility, and other concerns, but women who have it lead healthy lives.

• A father who was told his baby girl might have Turner syndrome turned to Reddit for advice when his wife wanted to have an abortion.

• Reddit users told him not to have an abortion without further testing and even advised him that testing showed it was his wife who may have Turner syndrome, not their baby.

• Further testing showed that the baby was healthy and the wife had mosaic Turner syndrome, and the baby was not aborted.

The Details:

A man and his wife, who were expecting their second child, learned through the non-invasive prenatal screening test (NIPT) Natera that their baby might have Monosomy X, a condition known as Turner syndrome. Although doctors advised them to undergo an amniocentesis, the wife wanted to have an abortion.

But when the husband turned to Reddit for advice, everything changed.

In the Reddit post, the father of the baby, under the username baahubal, shared that his wife had undergone the NIPT screening with Natera and they were "shocked" to learn that the baby may have "possible Mosaic in Monosomy X with Turner syndrome." They were advised to go for an amniocentesis. However, his wife wanted to skip the amnio and have an abortion right away.

He posted:

We did couple more NIPT again (NextGen and Natera) for additional confirmation. We’re schedule to meet with MFM in 4 days. Wife does not want to go for Amnio and instead wants to Abort. I want her to take an informed decision than just gut feeling and I also don’t want to do something against her will.

I have read a lot about the False positives for NIPT results and she’s aware of that too but she’s not ready to proceed with this pregnancy. I know we’re young and can have another one but I don’t want to take a decision based on a test that can have several false positives.

He's right. NIPT testing comes with a significant chance of a false positive, especially for conditions that are less common. These tests do not show a positive or negative result but the level of risk that exists for certain health conditions. In fact, Natera was recently forced to pay $8.25 million in a class action settlement over allegations that it had misrepresented the accuracy of its NIPT products, Panorama and Vasistera.

For Turner syndrome, the risk of a false positive NIPT screening is about 62% to 74%.

The National Institutes of Health explained:

In contrast to the very high positive predictive values (PPVs) achieved with cfDNA analysis for trisomy 21 (91% for high-risk and 82% for low-risk cases), the PPVs for monosomy X are much lower (~26%). This is because the maternal plasma sample contains both maternal cfDNA and placental DNA, which is a proxy for the fetal genome. Underlying biological mechanisms for false positive monosomy X screening results include confined placental mosaicism, co-twin demise, and maternal mosaicism.

Somatic loss of a single X chromosome in the mother is a natural phenomenon that occurs with aging; this could explain many of the false positive cfDNA results. There is also increased awareness of women who have constitutional mosaicism for 45, X who are fertile. It is important to recognize that a positive cfDNA screen for 45, X does not mean that the fetus has Turner syndrome. A follow-up diagnostic test, either amniocentesis or neonatal karyotype/chromosome microarray, is recommended.

Turner syndrome is a genetic condition that affects girls who have a missing or incomplete X chromosome. Women with Turner syndrome are often short, have distinct physical features such as low-set ears, swelling of hands and feet, potentially heart issues, and potential infertility due to early ovarian failure and underdeveloped ovaries. But some women live with Turner syndrome for years without knowing it.

In mosaic Turner syndrome, only some cells are missing all or part of an X chromosome while others are normal, which causes milder symptoms.

When responding to the question of what this couple should do, Reddit users potentially saved the baby's life.

Zoom In:

The majority of those who replied to the father's Reddit post encouraged the couple not to abort. They wrote:

• "MFM will do another scan that will give you more information. If sonogram is normal there, is VERY likely that you are dealing with a false positive. I echo never terminating for NIPT alone, especially for turners. It is a screen, not a diagnostic test."

• "I understand your wife's anxieties and sadness. But it really does sound like her anxiety is overruling her logic. There is an approximately 70% chance that your baby is completely fine right now, and if she doesn't want the amnio she doesn't have to get it! You can continue the pregnancy and have increased sonograms instead. Right now she is considering terminating a completely healthy pregnancy rather than taking a miniscule risk of miscarriage with the amnio."

• "Amnio is a lot less risky than aborting. Your wife’s line of thinking frankly makes zero sense here."

• "I got a very similar result from Natera. ... I went in to MFM and opted for the amnio. The MFM was actually surprised that I wanted one with the NIPT results that I had. I’m paraphrasing here, but he basically said that this result was highly unlikely to be Turners and that he personally wouldn’t even be remotely stressed if he got that result. I still went ahead with the amnio at 16 weeks and it went well. My results came back normal and my daughter is now 13 months old and is the absolute light of our lives with no developmental issues."

• "Please do not [abort]. I’m a false positive story. Except I actually had a 'high risk' result on my Nipt for my baby girl for Turners. It was a false positive….. i had a mosaic placenta. My baby girl is 2 and a half years old and perfect."

• "As others have said that would be a big mistake. TS has a high percentage of false positive, why would she want to go through the trauma of termination when the baby may not even have TS?"

One woman explained that the NIPT is not diagnostic and it could be the placenta, not the baby, that had mosaicism. "I would 100% go for amnio- the NIPT is NOT DIAGNOSTIC! I had confined placental mosaicism and here is my completely healthy baby girl," she wrote.

Perhaps most shocking were the number of people who explained that the NIPT result actually showed that the baby's mother was likely the one who had mosaic Turner syndrome.

A woman whose baby has Turner syndrome explained:

"Someone correct me if I’m wrong here, but it states it 'is suspected to be of maternal origin'… doesn’t that mean your wife would likely be the one with Turner syndrome in this scenario? Many women find out they have mosaic Turner syndrome from their NIPT testing because they never presented signs of it beforehand, or at least none that led to them being diagnosed prior."

Similar comments from Reddit users included:

• "Also after reading this more closely — the results suggest it looks like your wife is most likely the one with mosaic TS. So pretty much every NIPT she ever gets when she’s pregnant is always gonna say this if that is correct (and it most likely is)."

• "Since it says likely maternal origin, your wife may have mosaic Turner’s Syndrome or XXX. She should get a karyotype done on herself asap to find out. If you still have no answers I’d recommend an amnio. I am pro-choice but if this baby was wanted it would be very sad to abort based on a screening and not diagnostic test. There is a VERY high chance the baby is completely fine, especially since it says this is likely maternal origin."

• "This isn't a high risk or positive result. It's a no result due to suspected maternal mosaicism."

• "You didn’t get high risk you got a no result. Moving to termination (assuming this is a wanted pregnancy) is wildly premature. Anyway—it could be what I got—turns out I have mosaic turners. You’d never know that to look at me."

• "Per the report they SUSPECT YOUR WIFE IS MOSAIC, NOT THE FETUS! Mosaic means that your wife may have a missing X is some (but not all) of her cells. Because mom might be mosaic, they give no result for the fetus.

  Next step is a karyotype on your wife to confirm if she has mosaic Monosomy X. You can also consider amnio for the fetus since they didn’t asses for Monosomy X for the fetus (due to your wife potentially being mosaic). Most likely the fetal chromosomes will be normal though. If you terminate now you will likely be ending a healthy pregnancy…"

The husband noted that the comments were helping him convince his wife not to undergo the abortion. He wrote, "This is truly giving me courage in our current situation."

He also said, "My wife agreed to go for an Amnio. I sat next to her and made her read through each and every response you all gave and we had a good understanding of the situation," and "All your responses were giving me positive vibes and Confidence for me that this baby would not have any issue and would be completely fine."

He later updated:

"Got the Karayotype done for Wife. She’s the one having Mosaic Turners as expected. However that doesn’t completely rule out whether the baby had Monosomy X, so we went for Amnio yesterday."

And then he shared, "Amnio Karyotype done for the baby. It is a normal healthy baby girl. No Turner’s syndrome. Everything is good."

Why It Matters:

Turner syndrome is not a death sentence, and those who live with it lead very happy, normal lives.

This Reddit thread shows how inaccurate NIPT testing can be, as well as how unhelpful a test result without a doctor's interpretation can be. Reddit users correctly pointed out that the mother had mosaic Turner syndrome, not the baby.

How many babies may have been aborted because of similar results and misunderstandings?

Furthermore, abortion is never a necessary reaction to prenatal diagnosis or suspected diagnosis. Having and raising a child with a health condition can feel daunting, but it is not the end of the world. In fact, one Reddit user has Turner syndrome and told the father:

I'm an adult with Turner's Syndrome. Even if that's the diagnosis, there's no guarantee of severe issues. It's such a difference in cases. Most babies that make it to term have some medical issues, but nothing untreatable. I lived a normal life as do most that I know who have it. I'm married, own a home, and have a Masters degree. I have medical issues I have to keep up with, but it doesn't keep me from living my life.