Welcome to Family Policy Matters, a weekly podcast and radio show produced by the North Carolina Family Policy Council. Hi, I'm John Rust and president of NC Family, and each week on Family Policy Matters, we welcome experts and policy leaders to discuss topics that impact faith and family here in North Carolina. Our prayer is that this program will help encourage and equip you to be a voice of persuasion for family values in your community, state, and nation. And now, here's the host of Family Policy Matters, Tracy DeVette-Griggs. Thanks for joining us this week for Family Policy Matters.
Nothing can turn the joy of expectant parents on its head like a prenatal diagnosis of a genetic abnormality. Sadly, many parents who receive such a diagnosis are encouraged by their health care providers to abort their children. And those who carry to term often struggle to ensure their babies receive basic medical care.
Well, recently, the American Academy of Pediatrics updated its recommendations for how physicians should approach these types of cases.
So we invited an expert with 39 years of experience treating these patients to help us understand what parents and physicians should know and do in these scenarios. Today, we're joined by Dr. Marty McCaffrey, a professor of pediatrics at UNC Chapel Hill in the Division of Neonatal Perinatal Medicine and director of the Perinatal Quality Collaboration of North Carolina. He's a retired U.S. Navy physician, husband, and father of three, including a daughter with Down syndrome.
Dr. Marty McCaffrey, welcome to Family Policy Matters. Hey, Tracy, thanks for having me.
Well, how wonderful to have the opportunity to talk to.
Someone on this issue has so much experience as a doctor, but also as a father.
So, give us some more details on your experience as a doctor first. What kind of patients do you serve, and what kinds of care do you all provide there? I work in the neonatal intensive care unit at the University of North Carolina. We're a level four neonatal intensive care unit.
So we see all types of pathology and medical issues related to infants and children. But a large portion and an increasing portion of our population now are babies with genetic disorders that may be identified prenatally. What kinds of outcomes are you seeing in these babies who are born with genetic abnormalities? Yeah, so when we speak about genetic abnormalities, I think the major groups we're talking about would be babies with trisomy conditions. And that's truly what we're doing now with non-invasive prenatal testing, NIPT.
The major screening is looking for anomalies related to trisomy 21, Down syndrome, trisomy 18, Edwards syndrome, or trisomy 13, Patow syndrome. And so we see a fair number of those babies in our unit. Over the years, Down syndrome has become something that That is treated on a regular basis, although 30 to 40 years ago, this was not necessarily the case. But families and parents who elect to deliver their babies and go towards term are babies that receive full care in our units, and they're receiving things like heart surgeries and a host of other medical interventions and treatments. The lifespan of children with Down syndrome has dramatically increased over the last 20 years.
I mean, we're now looking at an average lifespan for those children and adults now that can be into the 50s and early 60s. Trisomy 13 and 18, the other group that is screened for most aggressively, are a little bit of a different story. They have been traditionally talked about as lethal disorders. What literature over the last five to ten years has shown us is this is not the case. These are life-limiting disorders, and indeed, we have children with these disorders that are now living into their 20s and 30s.
Clearly, they have medical complexities, and they do have severe cognitive and motor deficits, which make life with them challenging. But the literature is very clear to us that these are children and adults that are valued members of their family when they're given the opportunity to survive. And there are places who are dealing with larger numbers of these babies that are reporting survivals now that are approaching 40 to 60 percent at one year of life. And if a child with one of these disorders lives to be one year old, the survival to go to five to ten to fifteen to twenty years is actually quite high, somewhere in the 60 to 80 percent range.
So the world has changed quite a bit over the last five to ten years for families dealing with a prenatal diagnosis, especially of trisomy 13 or 18. In the midst of these improvements, the American Academy of Pediatrics has just updated their guidelines for physicians and how they should treat these anomalies. And you're not very happy with that.
So, explain to us. Why?
Well, I think what the guideline tries to do is turn the cultural tide of describing these disorders as lethal or just assuming they're extremely life-limited with a life that can be no longer than a few weeks. The literature tells us otherwise.
Now, I want to be clear, and I'm not saying these children are uncomplicated and have no issues, but what we have failed to do as a medical group, as pediatricians, as obstetricians, and the literature proves this, is that we have failed to offer families the informed consent about the potential for life that these children and adults ultimately may have. And we are not often, as much as I would like, allowing them to make those decisions. The American Academy of Pediatrics guideline that was just released attempts to open the door to tell providers that it is ethical to allow for life-saving interventions for babies prenatally diagnosed with trisomy. 13 and 18. But it does this for my liking in a very faint-hearted way.
It is accepted as something that is ethical for families, but it is presented in terms that include aggressive life-saving interventions, and it reports survivals for these babies as 5 to 10% at one year. What I really feel this statement fails to point out is that when we make a prenatal diagnosis through screening or an amniocentesis, that a baby may have trisomy 13 or 18 or does have trisomy 13 or 18, what happens is often the family is counseled either for abortion, and the statement from the American Academy of Pediatrics suggests that this is actually a very ethical approach, or they are then provided information related to perinatal hospice or comfort care or what has been called perinatal palliative care. And for babies, what this means, if a parent is going down one of these Three roads, which are all basically the same for many babies. It is: we're going to provide comfort for the baby, we will provide warmth, we will provide narcotics, we want the baby to be born alive if possible. We want the family to have time with the child, but we are not going to institute any life-saving measures.
And the end result of this is that many of these babies will die within the first week of life. And that is truly the reason for a large proportion of the mortality that we see in this group. What the American Academy of PEET statements does not remark on is this fact: that most parents are electing, if they go to a live-borne delivery, to go down the road of comfort care, palliative care. And regarding palliative care, many would say, well, palliative care, Marty, is not saying a baby will die, but we have the literature that tells us what people interpret palliative care to be for babies who are born with potentially life-living anomalies. This was a study.
Done in 2016 by Annie Janvier, neonatologist up in Canada. And what she discovered is that when a baby is prenatally diagnosed with trisomy 13 and 18, palliative care, comfort care for that baby is very different than what a baby who's diagnosed afterbirth with trisomy 13 or 18 will receive. What they found is that prenatally, what happens then is babies are given warmth, the parents are given psychological support, and there are narcotics given for the comfort of the baby. It also should be known that these narcotics potentially can suppress breathing. And so the question comes: what is the intent of comfort care or what they call palliative care for these babies?
And the conclusion of those investigators, Annie Janvier et al., is that palliative care for the babies with a prenatal diagnosis of trisomy 13 and 18 is focused on as short a life as possible for the baby afterbirth. Food for these babies? Are mothers holding them and breastfeeding these babies? It's variable.
So, when I paint a broad stroke with palliative care and comfort care, having worked in this area supporting families through an organization that I work with called Be Not Afraid, which walks down the road in partnership with families trying to get their babies to a live birth and beyond, I can tell you that there are a few places where palliative care might be real palliative care, where we're going to try and support the baby maybe with some limited interventions. And that would include feeding. But many, many places, when palliative care is raised as the pathway, it is truly comfort care, and feeding is not a regular part of that pathway. Jean Vier et al. did not find feeding was a regular part of that pathway.
And there may be breastfeeding, but there is no indication that in these pathways, on a generalized basis, that there is an intent to hydrate the babies or provide nutrition.
So, that offers up another opportunity for a baby not to survive. If a baby is not being fed adequately for several days or a week or two, there's certainly going to be a number of deaths within that first month of life. And that's certainly what the statistics for trisomy 13 and 18 show. Wow. We've all seen those studies about even healthy babies that are left in a bed and are not nurtured, not held, and how they often fail to thrive.
And so, you think about these children that already have a life-threatening condition and what kind of effect that would have on them.
So, what is your response? Do you feel like you have any control over making some changes to this? The control really hopefully would refer back to us as providers and changing our stance on this and recognizing that our past biases. I will fully admit, up until not that long ago, back in the early 2000s, I was one of the people that would say that your baby has a lethal disorder and will provide comfort care. Literature, though, really shows us that this is.
not the case. And my approach has totally changed. I think it has changed for a number of people, but not enough. And I wish the American Academy of Pediatrics statement had emphasized this a little bit more. The best data that we have still shows that there's incredible bias in the obstetrical and the pediatric, meaning neonatology as well, community towards these babies.
So what I would personally hope for, and I wish the American Academy had advocated for, is giving these babies a chance, at least offering upfront and emphasizing the need to offer stabilization, evaluation of these babies, because of the little that we know, because of the biases that we hold, and because of the literature that tells us these babies can actually survive into childhood and adulthood for years that we did not understand before. Right. And you mentioned that there were some families that you have followed whose children have been born with these abnormalities that have found that to be a life worth living.
Well, the literature shows that. When you ask these families in published articles, they will tell you that absolutely these children were a gift to us. It has been my overwhelming universal experience that that's the case with the families that I've worked with over the years. But in the literature, and I think one of the really critical questions is in the literature, when families are asked if you had another child, a pregnancy with trisomy 18, what would you do with that pregnancy? 89% say either we would have the baby and we will take the baby and do the best we can for the child, or we would never do prenatal testing again.
Only about 10 to 11% say they would terminate the pregnancy.
So that should scream to providers that we need to offer parents informed consent at a minimum. I'm a pro-life guy and I think these children all deserve a chance at life, but at least their parents deserve the chance to make an informed decision. And that is not the standard of. Care right now across this country. Wow, what a compelling story.
And thank you so much for serving on the front lines and using your expertise to fight this battle. It sounds like it's a good fight. We are just about out of time for this week, though. If people want to follow up on this, do you have some literature that they can go to? Do you have a website or anything where people can go to follow your good work?
Yeah, you know what I would suggest they do? They go to www.be notafraid.net. This is an organization, as I mentioned, where we partner with families with a difficult prenatal diagnosis, not just trisomies, and walk with them through the pregnancy. What we realize is that as soon as a family gets a hint of a prenatal diagnosis like this, even if it's just a screening test, that family is traumatized and that pregnancy changes forever.
So we are committed without cost, without charge, to partnering with families and walking with them every day through. This journey and afterwards, after their babies are born. We have case managers who are trained in trauma-informed care. They are wonderful, and there are medical advisors, including myself, who are standing at the ready to help support families as they walk this challenging road. All right, Dr.
Marty McCaffrey, we are grateful that you joined us today on family policy matters. Thank you for listening to Family Policy Matters. If you enjoyed this episode, please subscribe to the show and leave us a review. To learn more about NC Family and the work we do to promote and preserve faith and family in North Carolina, visit our website at ncfamily.org. That's ncfamily.org.
And check us out on social media at NC Family Policy. Thanks and may God bless you and your family.
