New prenatal screening test for Down syndrome raises questions

by Leisa Scott from The Courier Mail:
IT RAINED the day they got the news. Big, pelting drops, as if some screenwriter well-versed in melodrama was dictating the scene.
Annie Love couldn't take the call. She'd been going "slowly nuts" waiting for diagnosis day to arrive and was only just holding herself together. Her husband, Ben, answered the phone. He nodded. Then he mouthed the words. "It's positive. Baby has Downs."
They cried. Huge, heaving sobs to rival the rain. In the days and weeks that followed, they'd pull themselves together, then lose it all over again. And they grieved. This was not the picture they had of their family. This baby was meant to be "normal" just like Sam, then 4, and Charlie, then 2. Now the picture had changed, fuelled by stereotypes: an overweight kid with a bad haircut being teased, a life on the fringes.

But they'd already decided after many heart-wrenching talks in the preceding four weeks between suspicious scan and confirming amniocentesis that they would have the baby. If he had Down syndrome, they'd paint a new picture.
So they prepared. Months of grief gave way to a readiness and a joy. Everyone close to them knew their baby would be born with Down syndrome. Now it was time to get on with it. They wrote a birth plan. No-one in that delivery room was to be negative. This was their baby and they were happy. He arrived at 2.55am on March 20, 2012. Nicholas Fenton Angus Love, 3.8kg, 52cm long.
And here he sits on the floor right now, goo-gah-gurgling as he plays with his toy with gusto. Plump, healthy, with a knockout grin. And "chromosomally enhanced", as his mother likes to say.
As she looks at Nicholas playing at their home in Gordon Park, on Brisbane's northside, it's hard for Annie, a Catholic, to admit she considered abortion. So did Ben. "From a relationship perspective it was probably one of the hardest things we've ever had to go through," says Annie.
That the Loves decided to have Nicholas after the amniocentesis confirmed Down syndrome makes them a rarity. Most don't. Only 5.3 per cent of pregnancies where there is a prenatal diagnosis of Down syndrome are continued. This figure comes from a respected Victorian study, the only (now-defunct) research in Australia that followed the link from prenatal diagnosis to live births of babies with Down syndrome. Released in 2008 and based on figures from 1986 to 2004, the study was co-authored by associate professor Jane Halliday, a public health genetics expert with Melbourne-based Murdoch Childrens Research Institute. "The vast majority, 95 per cent, were terminated," she says.
It's similar across the Western world. About 90 per cent of foetuses with a diagnosis of Down syndrome are terminated in New Zealand, about 92 per cent in the US, about 93 per cent in the UK.
Now, a new element in the vexed issue of Down syndrome and reproductive choice is entering the fray. From this year, non-invasive prenatal testing is available in Australia. The existing invasive methods of diagnosis amniocentesis and chorionic villus sampling (CVS) are taken up by about 6 per cent of pregnant women, generally after an abnormal scan. They carry the risk of miscarriage the main reason women do not seek the test. But the new tests, although expensive and, for now, limited to the wealthy at a cost of up to $2000, do not pose such risks.
Which raises the very real question: Is this the beginning of the end for Down syndrome?

THE refrains of "I'm A Little Teapot" Coming from Brodie Logan's iPad are starting to get a bit too loud.
Mum Angela suggests the five-year-old turn it down. Brodie shoots her a look as if to say 'Party pooper!' and keeps the volume where it is. On the second request, Brodie considers her options and turns it down. Yep, just like most five-year-olds.
Angela smiles at her daughter's chutzpah and continues reeling off Brodie's achievements. "She's writing her own name. She can count well into her teens. She loves to learn, she loves to be with other kids and be involved and play. She packs her lunch (for a mainstream school), wants to help cook dinner. She's independent, fiercely so."
That's not the picture that was painted for Angela and husband Ben, of Ipswich, when Brodie - their first, followed by Harvey, 3, and Sammie, 18 months - was born with Down syndrome. Angela says while the medical care at a major Brisbane hospital was top-class (Brodie needed a heart operation at 11 weeks), she was shocked by the "overwhelmingly negative" advice from medical staff and social workers about life with Down syndrome.

BBC asks Archers listeners to vote on future of Down's Syndrome baby

By Anita Singh from The Telegraph:

Fans of The Archers have protested at a “tasteless” BBC poll which asked them to vote on whether characters in the Radio 4 soap should abort their Down’s Syndrome baby.
The characters, Mike and Vicky Turner, recently learned from the results of an amniocentesis that their unborn baby has the syndrome.

The programme’s official Facebook page invited listeners to vote on what the couple should do next.

A message read: “Mike and Vicky’s dilemma makes up this week’s vote: should they go through with the pregnancy?”

Listeners complained that the BBC was treating a serious issue so lightly.

“Can’t help thinking this vote a little distasteful?” said one.

Another wrote beneath the vote message: “What a disgusting poll to run,” while others called it “disturbing and upsetting”, “crass”, “offensive” and “tasteless”.
One listener commented: “I was very surprised when I saw this poll. The storyline is hard, the considerations are complex and any decision will be fraught with doubts - not a scenario which can be answered by yes/no, by people who have never been there. Please remove this poll.”
Initially, the BBC defended the vote, writing on Facebook: “Sorry you feel this way. The polls tend to reflect the storylines that are most talked about in the programme, and this is Vicky and Mike’s dilemma. The result of the poll doesn’t affect the outcome of the storyline.”
However, it later bowed to calls for the vote to be removed from the website.
Writers for The Archers worked on the storyline in conjunction with the Down’s Syndrome Association, who described the vote as “unfortunate”.
A spokesman for the association said: “The scriptwriters wanted to get it right and they have been a joy to work with. They have been very thorough and the storyline shows the discussion that happen on a day-to-day basis as parents go through the screening process.”
A BBC spokesman said: "The Archers storyline on Mike and Vicky’s pregnancy has been well-received by the audience and raises a number of important issues about Down’s Syndrome, informed by the advice and expertise of the Down’s Syndrome Association.
"However this issue is too complex and sensitive for an online poll and we regret any offense the poll may have caused.”

will Sue Sylvester's baby have Down syndrome in "Glee" season 4?

Glee Spoiler Alert!

from Wetpaint by Beth Douglass and Ryan Gajewski:
Back in Glee Season 3, Episode 15: “Big Brother,” an abnormal test result gave Sue (Jane Lynch) the shocking news that her unborn baby might potentially have Down syndrome. Nothing could be certain, though, so we still held out hope that Sue might give birth to a happy and healthy little tot.
Sadly, it seems that just won’t come to be. Jane Lynch spoke with E! Online on August 5, she shared that though Sue will have “just given birth to a beautiful baby girl” when the show returns for Season 4 this fall, the tiny infant also “has Down syndrome.”
Given the care and sensitivity Sue has displayed when working both with Becky (Lauren Potter) and with her late sister, Jean, we have no doubt that the new mother will more than rise to the occasion. Plus, can you imagine a Sue-Becky-Baby trio — how adorable will that be?

from Glee Wiki:
Sue is currently pregnant as of On My Way. In Big Brother, she finds out that her child is female and has a high risk of having Down syndrome, similar to how her sister Jean and cheerio of hers, Becky, the two people closest to her, had Down syndrome. Her baby will be born by the time season four starts

also from Glee Wiki:
In Big Brother, Becky shows up in Sue's office door, hovering without saying anything. Sue tells her that she is, in fact, interrupting. Becky tells Sue that she heard about her baby. Sue had learned earlier in the episode that there were irregularities in the test results for the baby, so she clearly assumes that is what Becky is talking about. When Becky says that she heard the baby is a girl, Sue smiles and says, "Just like you," and hugs her, thoughtfully repeating the phrase, indicating that the baby likely has Down syndrome. Becky offers up a parenting tip for Sue to work on her patience.

from teen.com:

Sue gets good — and bad — news about her unborn baby. The good news? It’s a girl, like she wanted. The bad news? She finds out that there were some “irregularities in the amnio” and that her baby has Down Syndrome like Becky. Ok, it’s not unlikely that that would happen to a woman of her age that’s pregnant — but it is unlikely that she’s even preggers in the first place. From a “celebrity” sperm donor. Puleez.

from the Washington Post by Jen Chaney:

Before moving on to the musical numbers assessment, I should probably also note that Sue Sylvester found out that her unborn baby girl likely has Down syndrome, and that she’s also still feuding with Nene Leakes, who is now co-coach of the Cheerios.

from Remington Remer:

Anyways, the ironic part...Sue Sylvester the cheerleading coach (which you would have done too to be just like your favorite Aunite) found out she was pregnant with a girl that may have Down's Syndrome. That part in the show made me smile and the reason there were no tears is because to me you would have to be lucky to have a baby with Down's Syndrome just like you. Sue Sylvester hugged one of her cheerleaders, Becky because she also has Down's. Becky told Sue the only advice she had was for Sue to be "Patient!"

from E Online by Bret Malec and Liz Calvario:

Meanwhile, Lynch also dished on what's in store of Sue Sylvester and her new baby in season four of Glee.

"Momentarily I'm nice," she said. "I've just given birth to a beautiful baby girl who has Down syndrome and her name is Robin. Which to say hearkens thoughts of spring and new beginnings and her favorite Bee Gee."

validating statistics regarding aborted pregnancies with a Down syndrome diagnosis

from PolitiFact Ohio:

"The fact is 90-percent of Down Syndrome children were aborted in this country."
Mike DeWine on Monday, February 20th, 2012 in an interview with MSNBC

Ohio Attorney General Mike DeWine caused quite a ripple in the Republican presidential primary race when he dropped his endorsement of Mitt Romney and threw his support behind Rick Santorum.

Santorum’s holds some ultra-conservative views, especially when it comes to women’s reproductive rights. He opposes birth control and abortion.

Enter DeWine, who served with Santorum in the United States Senate and became a close friend. Now that he is backing him, DeWine found himself trying to calm the flames left behind by Santorum as he stomped through Ohio for the March 6 GOP primary.

DeWine appeared Feb. 20 on MSNBC’s "The Last Word with Lawrence O’Donnell" and was asked about Santorum’s assertion that amniocentesis, a prenatal screening test, directly leads to an increase in the number of abortions. Santorum had made the claim earlier that day on the campaign trail in Ohio.

Would DeWine advise Santorum to stop talking about amniocentesis, O’Donnell asked. DeWine responded he would not, adding that Santorum was correct.

"The fact is 90-percent of Down syndrome children were aborted in this country," DeWine responded. "Maybe some people don’t think that is a problem. I’m shocked by it. I think it’s a sad commentary. And what he was simply saying is the government should not compel every insurance policy that is written to cover that."

DeWine went on to share a personal story, saying that his wife declined prenatal testing during her eighth pregnancy when the doctor told her that if problems were detected with the fetus that abortion could be an option.

"My wife said, ‘no, I’m not going to do that,’ " DeWine said.

DeWine’s 90-percent figure caught PolitiFact Ohio’s attention.

His claim is similar to one made by state Rep. Richard Corcoran during a debate over six abortion bills in the Florida House of Representatives. Politifact Florida checked Corcoran’s statement in April 2011 and rated it True.

More recently, PolitiFact national rated a similar comment from Santorum. After finding some additional information about the data, Santorum’s claim got a rating of Half True. We’ve incorporated that data here.

Corcoran cited a New York Times article from 2007 that discussed how effective prenatal testing to detect Down syndrome could reduce the number of children born with the genetic condition, and how parents of children with Down syndrome were trying to convince others not to abort fetuses that tested positive for the condition.

The story included almost the same line that Corcoran used — that "about 90 percent of pregnant women who are given a Down syndrome diagnosis have chosen to have an abortion."

The story linked to a 1999 study from the Psychology and Genetics Research Group at King’s College in London which discussed abortion rates after a prenatal diagnosis of Down syndrome. It compiled results from 20 other studies measuring abortion rates and concluded that, following a prenatal diagnosis of Down syndrome, 92 percent of women chose to have an abortion.

Other studies showed similar percentages.

A study from Wayne State University in Michigan examined 145 pregnancies with a prenatal diagnosis of Down syndrome from 1988-97 and found that 19 (13.1 percent) women chose continuation of the pregnancy, while 126 (86.9 percent) chose termination. Another study examined 131 prenatally diagnosed cases of Down syndrome in Hawaii from 1987-96 and found that women in 110 of those cases (84 percent) chose to have their pregnancies terminated. A study in San Francisco published in 2006 found an overall rate of 81 percent.

That data was cited to rate Corcoran’s statement.

However, in additional research for the Santorum comment and for this article, PolitiFact found information that makes the question less cut-and-dried.

A joint statement from the American College of Obstetricians and Gynecologists and other groups cautioned against generalizing about national patterns from a series of smaller, local studies.
   
"No current, comprehensive estimate of the number of pregnancy terminations following prenatal diagnosis exists," the statement said. "Several studies reporting older data, studies from single centers and studies from other countries have reflected variation in the number of pregnancies terminated. These studies are frequently cited, but given their limitations, are difficult to generalize to the current population of pregnant women in the United States. Undocumented observations from prenatal genetic counselors in the United States suggest that the rate of termination for prenatally diagnosed Down syndrome may vary across the country. New research is called for to comprehensively explore the uptake of prenatal testing and the outcomes of prenatally diagnosed pregnancies in order to more accurately define how women currently incorporate prenatal testing into their lives."

Mark I. Evans, a physician and president of the Fetal Medicine Foundation of America and a professor of obstetrics and gynecology at Mt. Sinai School of Medicine, emphasized that the percentage can vary significantly based on region and other factors.

"In liberal areas such as New York City, probably 80 to 90 percent of patients with severe abnormalties do choose to terminate when legal to do so," Evans said. "In conservative areas, the proportion of terminations is much lower, perhaps as little as 10 percent" in some cases.

The issue is addressed, too, in a paper in the journal Issues in Law & Medicine titled "Informed Consent or Institutionalized Eugenics? How the Medical Profession Encourages Abortion of Fetuses with Down Syndrome." The paper cites the example of a professor and practitioner, Elizabeth Gettig, who found that "almost 100 percent" of women with a Down syndrome diagnosis chose to abort when she practiced in North Carolina, but the number dropped to about half when she relocated to Pittsburgh. Gettig offered several reasons for the disparity.

"First, the Pittsburgh region has a higher percentage of Catholics," the paper said. "Second, there are more services than most cities in Pittsburgh to assist children who have disabilities."

There is an element of truth in DeWine’s claim. A number of studies have shown an abortion rate from 80 percent to 90 percent.

But all of those studies were localized. And we found experts who cautioned against applying that kind of research to the country as a whole, as DeWine did.

And DeWine’s comment was broader than Corcoran’s or Santorum’s and broader than what was encompassed in the studies.

Corcoran and Santorum specifically referred to cases in which there was a Down syndrome diagnosis. That also was the focus of the research.

In the interview, DeWine was asked about Santorum’s comments about pre-natal screenings and abortion. But his claim, that it’s a fact that "90-percent of Down syndrome children were aborted in this country," made no such mention of screenings and a Down Syndrome diagnosis. His statement would also include, for example, Down syndrome children born to mothers who had no prenatal testing.

That’s a critical fact that would give a different impression of the accuracy of his claim.

On the Truth-O-Meter, DeWine’s statement rates Mostly False.