With Advances In Prenatal Testing, Difficult Choices Arise

Guests

Melanie Perkins McLaughlin, documentary filmmaker and mother of three children, the youngest of whom has Down syndrome
Ayelet Waldman, author of Bad Mother: A Chronicle of Maternal Crimes, Minor Calamities, and Occasional Moments of Grace

Technological developments in prenatal testing and screening methods have given women more information about the genetic status of their fetuses. Increased access to information can leave mothers and their partners with difficult choices about whether to continue or terminate a pregnancy.

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NEAL CONAN, HOST:

This is TALK OF THE NATION. I'm Neal Conan in Washington. Prenatal testing has been available for more than three decades, but new developments in technology provide more advanced tests and less invasive screening. And they give women unprecedented information about the genetic status of their fetuses often much earlier in their pregnancies than ever before.

But when the news includes disorders like Down syndrome or cystic fibrosis or spina bifida, women and their partners face a difficult decision: continue to term in the knowledge the child will almost certainly be disabled or terminate the pregnancy.

If you wrestled with this choice, what factors went into your decision? Give us a call, 800-989-8255. Email us, talk@npr.org. You can also join the conversation on our website. That's at npr.org. Click on TALK OF THE NATION. Later in the program we look ahead with dancer and choreographer Bill T. Jones.

But first the choices around prenatal testing, and we're joined by two women who faced this decision. Melanie Perkins McLaughlin is a filmmaker and mother. Through prenatal testing, she learned the fetus she carried would almost certainly have Down syndrome. She continued her pregnancy, and her daughter Gracie is now five years old and has Down syndrome. She joins us by phone from Boston. Nice of you to be with us today.

MELANIE PERKINS MCLAUGHLIN: Thank you, Neal, thanks for having me.

CONAN: And Ayelet Waldman is an author and mother. When prenatal screening of her third pregnancy showed the fetus would almost certainly have a genetic abnormality, she decided to terminate the pregnancy. She joins us now from a studio in Berkeley. Nice to have you back on TALK OF THE NATION.

AYELET WALDMAN: Thank you, Neal, it's nice to be back.

CONAN: And why in the first place did you decide to have the testing? Ayelet Waldman, let's start with you.

WALDMAN: I very blindly had the testing. You know, I was 35 years old, and I was right on the line. During the course of the pregnancy, I actually turned 35. And the pregnancy books and my doctor all said that 35 was sort of this magical moment. It was the moment when your chance of having a baby with a genetic abnormality, specifically Down syndrome, trisomy 21, outweighed - were greater than the chances of losing the baby to the amniocentesis, because amniocentesis has a - I don't remember exactly the specific - but there's a certain number of babies who are lost - perfectly healthy babies - as a result of the amniocentesis.

And when that equation flipped, when it was actually more likely that you would - that a woman my age would have a baby with Down syndrome, that was the moment when doctors said this is a reasonable choice to make. And I made it, I have to say, quite thoughtlessly. I just, you know, did it because it was one of those things you do when you're pregnant.

I hadn't done it with my others because I was younger then, and I had no expectation of getting any kind of result other than simply the, you know, all clear.

CONAN: Yeah, and Melanie Perkins McLaughlin, what about you?

MCLAUGHLIN: Well, for me it was a little bit different. I had two children before Gracie, but I also had two miscarriages. So after my second child, I had had two miscarriages. I was sort of trying to plan my life just so. I had my first two babies 21 months apart, and it was a little bit too close, and I was very much a Type A personality, and I felt like I would plan the third pregnancy so it would be a little bit farther apart, and my second would be potty trained.

And so the third pregnancy came very easily to me, but then I miscarried. The fourth pregnancy, same thing, miscarried about 12 or 13 weeks. So I had been devastated by the miscarriages and very much wanted to have another baby. I was 39 when we got pregnant for the fifth time, and we deliberated a lot about even trying again.

And I didn't want to have an amniocentesis because even though I did at that age have a one in 150 risk of having a child with Down syndrome and was aware of the risk, the statistics for amnio for me were like I think it was one in 200. Some people say one in 400 chance of something happening to the fetus if you have the amnio.

So I had decided not to have the amnio until about 18 weeks, 19 weeks. I had a level three ultrasound. And they found a congenital heart defect, which is 50 percent of fetuses with Down syndrome have this particular congenital heart defect. So my odds went up significantly, to one in five. And we actually were at the doctor's office and changed our mind several times that day about whether to get the amniocentesis that they offered us on the spot, drove all the way home and ended up driving back up and getting the amnio that afternoon and found out, conclusively through the amnio, about a week later, I guess.

CONAN: And what was that like? I mean, that had to be devastating, as you say, from the miscarriages to...

MCLAUGHLIN: It was. You know, it was the week that was really difficult waiting, as well because after we had the amnio, we were under the impression that we were going to have the results within 24 hours. And after I think 24 hours passed, and then 36 hours passed, I finally called the doctor's office and said we haven't heard from anyone, and they said there was not enough chromosome samples, and it would actually be, you know, several more days before we would find out.

And it was just an excruciating, lonely time, excruciatingly lonely time. I just - waiting for the results. And then finally when I got the results, I was actually in a grocery store by myself on a cell phone. I got a call from an anonymous, you know, sort of genetic counselor that I hadn't met before, I mean someone that I had never worked with, and she just said I suspect you already know this, but your fetus has Down syndrome.

And I didn't already know that, and, you know, I broke down into tears, and I left the grocery store.

CONAN: I can understand that. Ayelet Waldman, what about - how did you find out?

WALDMAN: Well, we waited - you know, they have short - they can expedite the results if there's a reason to, but they also have sort of an elongated period. So we, it was two weeks after I had - almost two weeks after I had the amnio. And we were actually on our way to Hawaii on vacation. And we were leaving on Friday, and it was Wednesday, and I really wanted to know. I just, I called the doctor, and I said I'm just calling to get my results so I can go to Hawaii with a clear mind.

And she said, are you sitting down? And I...

CONAN: Hello?

MCLAUGHLIN: Hello?

CONAN: I think we just had a problem with the connection with Berkeley. We'll try to get that back up. That's where Ayelet Waldman is with us and was telling us about the moment that she found out about the results of the test, which showed that her baby had Down syndrome - or her fetus had Down syndrome.

Melanie Perkins McLaughlin, let's go back to you. at that moment, I mean obviously you leave the grocery store, you go back home. Who did you talk to?

MCLAUGHLIN: Well, I called my husband actually in the car, in the parking lot of the grocery store, and gave him the news. And, you know, he was very upset, as well. And then I went home, and we cried together for a little bit, and then, you know, I just stayed in my bedroom by myself.

We had two other children, and so I just was only really allowed the luxury of probably of being in the room by myself for that evening, but I just pulled the shades and was alone. And like I said, it was a very, very lonely time, and I was heartbroken. You know, and I had to - I was at about 20 weeks at that point. So I didn't have a lot of time to, you know, to mourn, to sit and mourn. I had to think about what was next.

But I did give myself that night to just sort of cry, and, you know, I could feel the baby kicking, and it was a terrible place to be.

CONAN: And where did you go after that?

MCLAUGHLIN: Well, I think - the next morning, I'm a researcher by nature, I do research for my film work. So I knew that I needed to do some research, and I needed to do it quickly. And so I started online, and, you know, where most people go, I guess. And I happened upon this Massachusetts Down Syndrome Congress, and we live in Mass, and there's a program called the Parent's First Call Program.

And they'll connect you with other families of individuals who have Down syndrome. And I called anonymously at first because I wasn't sure what I was going to do. I also called my obstetrician that day and asked procedurally, you know, if we decided not to continue, how much time we had. And she went through the procedure with me in terms of what my options were, whether I wanted to deliver, you know, the fetus and have time to say, you know, goodbye, or whether I wanted to have a D&E.

And, you know, so I had researched that option. And then I researched this other option of - I just felt like if I was going to make an informed decision, it was probably - not probably. It was really responsible to at least meet somebody who had Down syndrome.

CONAN: Was it emotionally helpful, also, to do something you knew how to do, research?

MCLAUGHLIN: It was definitely. And I - but I also know as a journalist that I had to get both sides. So that was hard because I felt like I needed to hear all ends of it. So I was trying to approach it as a journalist but also it's very hard to do, as you probably know, when it's personal, as well.

CONAN: Yeah, let's get some callers in on the conversation, people who have also faced these difficult decisions. We'd like to hear from you, if that's you, 800-989-8255. Email is talk@npr.org. And Patty's(ph) on the line with us from Modesto in California.

PATTY: Hi Neal, I - in 1983, my son Garret(ph) was born with spina bifida, and at that time there was no prenatal testing. And his spina bifida was fairly severe. He's paralyzed from the waist down and in a wheelchair. We waited about - several years to decide whether or not we were going to have another child, and my second son was born in 1988.

Prior to that, I chose not to have an amniocentesis, but at five months I was sent to San Francisco to have kind of a thorough ultrasound just to check the spine. And when the doctors gave us the results, they said, you know, the spine looks fine, you know, there's only one concern. They continued on, and we're like one concern, what is it.

And they said that it showed that the baby had a lemon-shaped skull, which is I guess a second marker for spina bifida. So I asked him at that time if, you know, the prevalence of children that they detect this lemon-shaped skull, how many are actually born with spina bifida, and they said, well, that's not in the books yet.

So we had four months. We had made the decision ahead of time, already having a child with spina bifida, that we would not have the option of abortion. But we went for four months, you know, not knowing whether or not he was going to be born with spina bifida. And he was not. And so I have two wonderful boys.

And my oldest son Garret recently was married to a young lady with spina bifida. They met through an online chat room. And so it's - they're doing very well, and everything turned out well for us.

CONAN: But in that second case, imperfect information is almost worse than no information at all.

PATTY: Oh yeah, it was four months of not knowing, and that was difficult.

CONAN: The choice, though, you said you'd made it in advance.

PATTY: We did. We - you know, I mean, Garret had probably been through eight surgeries by the time he was like three years old. And we knew at that point what life with a child with a disability was like. And the joy was - you know, the joy was much more than, you know, the medical issues that he's encountered throughout his life.

We knew that abortion was not an option. I mean, that's just something that my husband - we waited. I mean, Garret - my second son was born in 1988. So, you know, we waited a good amount of time to make a decision of whether to have a second child or not. So - and that decision was whether or not he has a disability or not, you know, he's our son and our child, and...

CONAN: And that's that. Patty, thank you very much for sharing the story. I know these are not easy calls to make.

PATTY: Thank you.

CONAN: If you've wrestled with what to do next after genetic testing revealed an abnormality in your fetus, tell us your story, 800-989-8255. Email talk@npr.org. Stay with us. I'm Neal Conan. It's the TALK OF THE NATION from NPR News.

(SOUNDBITE OF MUSIC)

CONAN: This is TALK OF THE NATION from NPR News. I'm Neal Conan. When a woman becomes pregnant, she may undergo several tests to determine the health of her fetus. Late in the first trimester, screenings for Down syndrome and other chromosomal abnormalities are common. In the second, tests can reveal whether a baby is likely to be born with neural tube defects like spina bifida.

In the past couple of years, though, more advanced tests have become available. They make it possible to detect Down syndrome with 99 percent accuracy just nine weeks into a pregnancy. Fetal genome mapping is making major strides. That could allow doctors to look for all sorts of genetic issues. And a new test called chromosomal micro-array uses computer chips to find abnormal chunks of DNA.

Each test promises more information about the fetus, but if abnormalities are found, it can lead to a wrenching decision. If you've wrestled with a choice to continue or end a pregnancy after learning of an abnormality, what factors did you consider? Give us a call, 800-989-8255 is our phone number. Email talk@npr.org. You can also join the conversation at our website. That's at npr.org. Click on TALK OF THE NATION.

Filmmaker Melanie Perkins McLaughlin is with us, and back with us, Ayelet Waldman in Berkeley, and welcome back.

WALDMAN: Thank you, sorry about that. Neal, one of the things I think that's important for families facing these decisions to recognize is that we have almost an illusion of information. You do get a tremendous amount of information. We can test for a lot of genetic abnormalities. But even finding out that you have a baby with a genetic abnormality, whatever that may be, isn't necessarily as much information as you need to make your decision whether to carry the baby to term or whether to terminate.

I assumed going in that I would get a very clear answer: This is the abnormality that your baby has, this is what it's going to mean for your baby's life, and here are the things that you weigh in making these decisions. But in fact what I think takes most women by surprise is that there isn't that kind of clarity often. It's often difficult to know just how affected your baby will be or what the genetic abnormality will result - what kind of life they'll have.

And so it's the stress - the thing that was the most stressful for me was the information I didn't have rather than the information I did have. And I think that as more and more genetic counselors face this panoply of new or a whole array of abnormalities they need to counsel people about, they need to have a greater sense of the ambiguity that they're presenting their patients with. It's...

CONAN: And I just wanted to ask Melanie Perkins McLaughlin, not only is every medical case different, everybody's family is different.

MCLAUGHLIN: It's true, and I think what Ayelet was saying is absolutely true. There is so much differing information, and there are a lot of vagaries. And for me, I just felt like had I had another diagnosis myself, had I had a, say, breast cancer diagnosis or anything else, I would want to meet someone who had been through that.

And so for me as a journalist, I felt like it was really important to meet a family that had a child with the same diagnosis that my potential fetus had. So I met people with Down syndrome, and I had not had much experience with people with Down syndrome prior to the pregnancy. So it was a real education for me in terms of what life was like raising a child with Down syndrome.

And now, since Gracie's been born, it's been five years now, I've become very involved in the disability community as a whole, and so I've gotten to know a lot of people of many varying abilities. And I feel like, you know, I had this experience where I went from a black and white world to a color world where I could really sort of see people in all their various imperfections. And that's been really wonderful for our family.

WALDMAN: And we also reached to - at the same time we made our decision, we reached out to people who had children with the diagnosis that our baby had received and also people who had made the decision to terminate. And I - the information and support that I received both on the Internet - there was an organization called A Heartbreaking Choice of women who had terminated after genetic abnormalities were discovered via amnio or CVS, and also there's - I saw a therapist in our community, and I, you know, talked to our rabbi.

But being able to speak to someone who had actually gone through the same experience was extraordinarily helpful. And that's one of the blessings of the Internet and all of the information that's accessible to us. At the same time that you're stuck in this situation that's far more ambiguous than you ever imagined it would be, you have tremendous resources out there that you can look at and read and find out about. And people are remarkably generous. People spoke to me in the middle of the night, people who had never met me.

CONAN: Let me read this email we got from Kelly(ph) in Salt Lake City. I was pregnant last July, married for 10 years, first baby at 34. My husband and I decided to do the prenatal genetic testing because we agreed it was best for our family not to continue the pregnancy if major defects were present, though nobody in our family history had issues.

We started with an early sonogram. It revealed a large nuchal fold measurement, which they thought could be trisomy defects, including some very frightening possible outcomes. We had to wait several agonizing weeks for genetic tests. We had both the F-I-S-H, the fish, and chromosome map. Both came out clear. However, at the advice of our genetic counselor, we had a fetal echocardiogram done at 20 weeks. It revealed major heart defects, including transposition.

While our child could have been born and possibly lived to adulthood, it would have had to go through major open heart surgery at birth and seen in the NICU for up to a month, as well as lifelong cardiac care or open heart surgeries, if everything went well.

Though little research has been done, because my husband is a physician, he knew where to find information, which did not point in a positive direction in terms of quality of life. It was a heartbreaking choice and one that had a time limit of one week in the state of Utah. My doctor would not perform the procedure at the university hospital because it was not deemed life threatening due to new infant surgeries they can perform. So I would have had to go to the only abortion clinic in Utah. They were very kind to me. We did not continue the pregnancy, and though we have been devastated at the loss of our son, it was for our family.

MCLAUGHLIN: You know, I think that's really great because - interesting and wonderful that that person was willing to share that with us because I think it is really important that people understand. When I was trying to - when we were trying to decide, we wanted anyone - I wanted anyone to make the decision for me. I was so desperate and in so much pain.

And, you know, I called a few people, and I was reaching out to people, and I called an author who had done a lot of research on this topic. He had written a book on this topic. And I reached out to him, and he said, you know, I can tell you this much, that, you know, for the folks that I talked to, whatever decision they made it was always the right one for them.

And I always tell women I counsel now, who come to me with prenatal diagnosis through the First Call program I volunteer with, that I use that as well. I say, whatever decision you make for your family, I'm sure it will be the right one for your family because I don't think women or families go into these decisions lightly.

And I think - Ayelet, I know some of the folks from the website you talk about, as well, and I've spoken with them, as well, and they've been very open and willing to talk to me. And I was on a website, as well, babycenter.com has some websites that you look on, as well. And I think the openness between women and the ability to communicate the loneliness and the fear is really important. And for us...

WALDMAN: Absolutely. What's so nice, Melanie, is I think - well, I found that this is a discussion that had almost nothing to do with the politics of abortion.

MCLAUGHLIN: Right.

WALDMAN: The people who actually confront this decision and make it and decide either way, they leave that discussion aside. I mean, every woman who has faced this believes that she made the decision that she needed to make for herself and her family. But people looking in, they want this to be a debate about abortion when really it's a debate about what every family needs to do for themselves.

MCLAUGHLIN: Right, it's true, and I think that other people looking in on the outside can say what they would do in that situation, but I think we all think we know what we'll do in a situation. I think I thought I knew what I would do in the situation, and truly you don't until you're in the situation, and you're faced with this decision, and you are looking at all the angles and all the options, and you have the circumstances of whatever your family's situation might be.

So I think it's easy to judge on the outside looking in, but until you've been in that situation, I don't think you can do that.

CONAN: Let's get Sheila(ph) in on the conversation, she joins us from East Aurora in New York.

SHEILA: Thanks, Neal, for having me. Yeah, I have to agree. I was in a situation where my husband and I decided to go for testing. He had already been a father 19 years earlier, and this would have been our third attempt. I had two miscarriages prior to what is now my daughter. And I had the alpha fetal protein test.

And they had said that she was going to be spina bifida. My doctor had told me to abort. And at that time Internet wasn't as prevalent as it is now. So I went to the library, I got a lot of information, did see that there were false positives with this particular test and ultimately decided to have a sonogram done.

And having the sonogram done and seeing that little baby in there, at that point I was about 17 weeks along, both my husband and I, even though we thought we'd go into if there's an issue to abort, we couldn't do it emotionally. We decided to follow through with the pregnancy, and we had a perfectly healthy child who is now 17 years old.

CONAN: I'm so glad to hear that, that it all worked out.

SHEILA: Thank you.

WALDMAN: And the good news is now I think it's rare that a doctor would counsel to abort because there's so much more information, and people have really come to the realization that it's not the doctor's job to counsel one way or the other. The - it's the doctor and the genetic counselor's job simply to provide you with as much information that you can so that you can handle this deeply ambiguous, ambivalent, terrifying and traumatic decision.

MCLAUGHLIN: I think that's true, but I unfortunately think there is still a lot of misinformation out there, and especially for doctors who maybe are a bit older and sort of may not have - you know, still looking at sort of case studies from adult situations. So I see certainly a lot of misinformation, and it wasn't until I met people in the particular community that we were looking at that I learned so much more.

I had very well-meaning, well-educated friends who, you know, told me that if we had this baby, she would never read, she would never go on vacation, she would never have a babysitter, and, I mean, they couldn't have been more wrong. And I was surprised that the people that I thought were going to embrace my decision the most were friends who I would call, I guess, sort of, you know, the intellectual - my intellectual friends, you know, in Boston.

And they were surprisingly the ones who were the most discriminating when I told them, you know, that we had decided to continue and that the baby had an intellectual disability. So I think that there's still, unfortunately, a lot of misinformation out there.

SHEILA: And I would have to agree with that too.

CONAN: Thank you very much for the call, Sheila.

SHEILA: Thank you.

CONAN: Here's an email we have from Mona(ph): This issue of early prenatal testing definitely presents new crises for parents. My husband and I found out at the end of my fifth month through an ultrasound that our baby was fatally deformed and would die at birth. We then had to decide whether to wait three months for the baby to die or have a late-term abortion. There was no good choice here. After a week of second opinions, soul searching and grief, I decided I would lose my sanity if I waited three months for my baby to die. So we chose late-term abortion. I am one of the relatively small number of women who have had late-term abortions. It was an act of mercy in my case. I have thought about what would have happened without early prenatal testing. I would have experienced my grief and shock when the baby was born without having to make an impossible decision or going through the grief or choosing to terminate my pregnancy. There is no easy answer, but prenatal testing doesn't always improve our experience or lead to a helpful outcome.

And, boy, no easy answer, Ayelet Waldman. I think that's the case.

WALDMAN: Absolutely. Absolutely.

MCLAUGHLIN: It's very - yeah. It's very complicated. Gracie had, as I said, a heart defect, and we knew that, you know, should we continue the pregnancy, she would also require open heart surgery. And that was one of our concerns when we were deciding, were we going to decide to continue the pregnancy and have the baby and then, you know, have something happen in the surgery or the baby would pass?

And my heart breaks for the woman who wrote in. It's - it is - there is no easy decision in situations like that. And, again, I don't think people make these decisions lightly. I certainly hope they don't.

CONAN: Melanie...

WALDMAN: And I think what's - oh, sorry. I was - I think what's amazing - that we don't realize, when you're in the sort of universe of healthy babies and happy children and everything is perfect, perfect, perfect, and you hear that perfect over and over again, you don't realize how often people make these decisions and these choices and what a large community of disabled children and their families there, and what a large community of families who've made the decision to terminate there is.

And it - you know, I used to make these sort of dark - when I was in my - in the most pain, I would make these dark jokes about this club that I had no idea existed, that I was suddenly a member of. But as the pain passed, I realized that it was that club, that group of women, mostly, and also some men that really made that terribly painful period - it allowed me to survive it intact.

CONAN: We're talking with Ayelet Waldman, New York Times best-selling author. She chose to terminate her pregnancy when her baby was diagnosed with a genetic abnormality. Melanie Perkins McLaughlin, Emmy Award-winning filmmaker and mother. Her daughter, Gracie, now 5, was born with Down syndrome. You're listening to TALK OF THE NATION from NPR News.

And let's go to Nicky(ph), and Nicky with us from Guerneville, California.

NICKY: Yes. Hi.

CONAN: Go ahead, please.

NICKY: Well, when I was 39, I had gotten pregnant for the second time, and I already had a daughter that was born back in '95, completely healthy, full term and everything. And my boyfriend at the time of my full-term pregnancy was in a little bit of trouble. So him and I had started talking, and I ended up getting pregnant.

And we went through all the testing, you know, and the - all the meetings with the doctors and nurses (unintelligible), you know, women who are 35 and older need to have these tests done because they have a higher risk of giving birth to babies with Down syndrome and other defects.

So I had to go through the amniocentesis, and I waited, and I waited, and then the test result came back. When it did, the woman had asked me if I knew what the sex of the baby was. And I said, no, they had never told me, and she said, well, you're having a son. And I said, oh. Well, she said, the bad news is that your test result came back not positive for Down syndrome, but for trisomy 13.

And so I asked her what that meant, and she said, well, babies who have this are born with severe deformities and severe retardation. So when I talked to my boyfriend about this, I, you know, I said, I don't know if I could handle dealing with this later in life. And he said, I don't think I can either. So we have chosen to terminate the pregnancy if the second test came back.

Well, I had another amniocentesis, which was the second one, and the test result came back in three days. And when the doctor called me back, she said, I just wanted to call you with some good news: Everything's fine.

CONAN: Oh.

WALDMAN: Oh, my goodness.

MCLAUGHLIN: I know. That's amazing. I'm so sorry you had to go through that.

WALDMAN: Yeah. You know, I had a - it's so - that - actually, I had a similar - not to that dramatic extent. That's just devastating. But I also had a false diagnosis with my fourth son, a preliminary diagnosis of trisomy 13 as well that ended up not being the case. And I mean, that's a thing that, I think, there are no guarantees in this business of prenatal testing, and there are no guarantees that if your baby is genetically normal, that your baby won't have a birth defect of some kind or a disability of some kind. And I think that's what, you know, in our quest for perfection, I think we have to come to terms with the fact that there is a certain amount of unknowable information in this business of having children. And you have to be willing to embrace the unknowable if you are willing to be a parent.

MCLAUGHLIN: I think that - couldn't have said that better myself. I think that in life, not just in prenatal diagnosis, in life, you know, there is the unknown, and it's an imperfect life. And I would argue that we're all imperfect to some degree and, you know, what does this mean, and would you want to have a perfect life, and what is the quest for perfection? And who decides what makes a life worthwhile? I think that's sort of a bigger question as you look at the ethical issues at these tests expand because right now, it's restarting chromosomal anomalies. But what will it be 10 years from now, 20 years from now? I think that's an important question that people need to ask.

CONAN: Nikki, thanks for the call, and thanks to our guests as well. Stay with us. It's the TALK OF THE NATION from NPR News.

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