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Podcast family as is the tagline for this show, medicine moves fast. Now, the reason medicine moves fast is because science, on which medicine is based, also moves fast. It's always being tested, it's being updated, we're figuring out more information. So as science changes, changes, medicine changes, it's science. So that's a good thing because we don't live in a humdrum, you know, that's how I used to do it, world. Things are always on the move and that's a good thing. For example, even though we've had multiple guidances on screening for chromosomal abnormalities in the past, both from the American College of Medical Genetics, ACOG and smfm, and a variety of other sources, things are always moving, like in January of 2026. Now, as point of reference, we are doing this in January 2026, but ACOG this month has released a practice advisory that's called the pa, the title of which is Screening for Fetal Chromosomal Abnormalities. Now, this is actually going to replace the previous guidance from the college, which was practice bulletin 226. Okay, now let me, let me tell you how all this worked out. Okay? Back in November of 2025, just at the end of last year, the SMFM released console series 74, which is going to be our main focus in this episode. Console series 74, that is cell free DNA screening for anuploid is now, at that time, ACOG endorsed it. Now, trust me, from my time at the board, those words mean something. Endorsed means, sure, we'll stand with you, but we just won't say anything yet. We'll just, we'll stand it with you. Okay, so we put a little stamp like, yes, we've seen this. We're okay with this. Boom. Little stamp goes on it. However, that later can get adopted into a practice advisory, which is what happened here January 2026, with the new one titled Screening for Fetal Chromosomal Abnormalities. Now, why did it change? Because science is always on the move. It's science. And that's a good thing. Now, there are a couple of things that aren't gonna go anywhere that didn't change. Like, like, yes, it is still the most accurate. So free DNA is still the most accurate for chromosomal disorders like chromosomal trisomy 18, 13 and 21. That's a no brainer. But the big focus here guys, the big change really has to do with SCAs. SCAs, sex chromosome abnormalities. And we're going to focus on this. We're going to talk about whether this should be just offered to everybody, willy nilly. Just, just check the box part of your cell free DNA screen for 13, 18 and 21. Or should patients have to actually opt in for it? Now let me explain. Opt in mean it's not universal, already set, they have to opt out. It's just the opposite right now. It's not included. You have to ask them do you want sex chromosome abnormality screening? Which ideally they should say yes. However, by asking them to opt in, it now puts the challenge and the task on us to do our job, which is tell them the limitations of cell free DNA for sex chromosome abnormalities. Which are different guys. Which are different than the limitations for 13, 18 and 21 sex chromosome abnormalities. Those results are just not at the same level of accuracy as they are for autosomal trisomies. We're going to explain why the positive predictive value depends on what the thing finds, if something is abnormal, and how to counsel a patient with that. We're also going to talk about what to do once you have a sex chromosome abnormality. Well, what do we do with that? We're going to touch down that in very quickly and then we're going to get into this question. Even though there are commercially available products where you can go to the store right now, because science is phenomenal, it should be open to everyone. You can buy a kit that you can self do it at home to collect and then send in to a lab to let you know, is your child a boy or a girl. These are commercially available. All right, so you can do OTC as over the counter direct to consumer testing for fetal sex as a commercial slash entertainment thing. There's actually something in the SMFM guidance about that and whether that is recommended or not. And as you can guess, it's not recommended because of the limitations of sex chromosome abnormality testing. And then what to do with the result if something comes out, a little whack. Now when you do an over the counter test, it's only looking for the presence of the Y chromosome. Okay, So I want to make this thing very clear from the intro. Determining fetal sex is one thing, looking for sex chromosome abnormalities is the other thing. Those are very different. They're related but they are different. Okay, so we're going to get into this because the science is similar because it has to do with the Y chromosome, but at the same time it's different because it's much more involved when you're looking for sex chromosome abnormalities versus just doing the screen basically for the Y chromosome. Very similar to like 3D ultrasound. 3D ultrasound, it really shouldn't be used for a keepsake. Okay. 3D ultrasound is a medical test looking specifically designed to look for fetal anomalies to better characterize something found on 2D ultrasound. But of course, 3D ultrasound is used as something to memorialize as a memento. I get that. And not necessarily against it. I am against doing it without proper counseling. And that's what we're getting at here. Just as 3D ultrasounds can find things sometimes as a memento and you're like, oh, doing these over the counter direct to consumer tests for just for fetal sex can find some things or can muddy issues versus looking for a sex chromosome abnormality. So we're going to talk about this because there's a specific section in this committee opinion. I'm sorry, in this new console series from FMFM that addresses this. Okay. And the specific title, it's a little paragraph towards the end. We're quickly going to summarize it. It's very clear. The title is what basically what do we do with this technology, this science for commercialization. Okay. And it's much more deeper than just looking for fetal sex. It is a genetic test that's meant to look for anomalies. Well, we're going to talk about it. So again, this is all based on console series number 74 from SMFM, which ACOG endorsed back in November and now has issued a practice advisory. Some things have not changed. Micro deletion screening using cell free DNA is still not recommended. So let me say that again. I know some of us like to click that little box for microdeletion testing. If we're worried about microdeletion testing, they need a diagnostic test. Cell free DNA is a screening test is still too many questions for microdeletion screening. Okay, so we're going to get into this. We're going to talk about what didn't change, what did change, and then how results for an abnormal sex chromosome abnormality, how those results for an abnormal result should be managed. What should we do next with that? Okay, so that's basically where we're going. Oh, here it is. Sorry, I just popped up. What is the role of cell free DNA in fetal sex determination, I.e. section 2.16 in the console series. We're going to talk about that. Even though, as we've already alluded to, it's not recommended as a direct to consumer test. As you find out if it's a boy or girl, that's kind of a misuse of the science. Quote. The non medical use of cell free DNA solely for fetal sex determination is not recommended. End quote. Sorry, guys, I know that's a bummer. I know patients would like to do that and they totally can. And I am 100% pro ca. Capitalist baby. I think it's a great idea for a company to do with unfortunately, not a lot of counseling. And that's one of the issues. Because science, of course, shouldn't be abused. It should be respected. It's science. It's science, as Ron Burgundy would say. All right, podcast family, think I've set it up enough. We're going to talk about the practice advisory number 74, which really has to do with console series number 74 from SMFM, which ACOG endorsed, thank you very much. In November of 2025. I set it up enough. We will be right back.
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This is Dr. Chapa's ob gyn no spin podcast. All right, so let's do this, because science is pretty cool. Michael told me. Hey, you said Ron Burgundy. There's gonna be some people who don't know who that is. Are you serious? You don't know who people don't know who Ron Burgundy is? It's science. Maybe so. And that's tragic. It's not for everybody's humor. Guys, Will Ferrell is the anchorman. That's not new. But Will Ferrell, Science. It's science. All right, if you don't know what that is. Not a sponsor anyway. So practice advisory January 2026, having to do with SMFM console series number 74. Let's just do this as rapidly as we can. Famous Last words. So some things did not change. Of course it is still recommended. So for DNA, which is our focus here, obviously still recommended for the main types of trisomies, which is trisomy 21, 18 and 13. And the practice advisory says it should be available to all patients if they understand their pretest prevalence. Okay, in other words, a positive abnormal cell free DNA result for say down syndrome has much more positive predictive value in a patient over 40 than it does in a patient who is under 20. All right, so after pre test counseling, and that's nothing new. ACOG says we should always be telling patients this anyway, that a positive result here does not mean something's wrong with a child. Come on guys, we all get this already and we're still talking about this January of 2026. Cell free DNA is a screening test. There are false positives and there are some false negatives, although it's much more likely to be false positive than false negative. Tries to me. 21, 18 and 13 should be offered to all patients as a reminder, even though when it first came out, this is back like in 2011, it was only for high risk because we didn't have the data in a otherwise quote, low risk population, meaning those under the age of 35. So should be offered to everybody in every patient population. And quote, after pre test counseling, every patient has the right to pursue or decline prenatal screening and or diagnostic testing as they like, end quote. In other words, you ask them, number one, do you want this? Do you want screening to see if the child has the most common chromosomal issues? Yes or no? And they say yes, then go, great, you want cell free DNA, this is the way that's preferred by the acog. There is another test that is diagnostic. It's a bit more invasive and it carries some risks. And then you go down that trail. Patients should be offered both screening and diagnostic testing as they desire. Okay, so screening or I guess diagnostic testing. Now they also say that for twin gestations, cell free DNA is still okay for the CRO for the common fetal aneuploids 21, 18 and 13, and that's fine. The sensitivity and specificity even in multi fetal gestation is still intact. So it's totally okay to do in a twin gestation. All right, so quote, among. Although the number of affected pregnancies are limited, the detection rates associated with trisomy 18 and 13 appear to be consistently high in twin gestations. And cell free DNA screening for these conditions is recommended, as is first line screening for trisomy 21 in twin gestation as that is still first line. So even in twins. Okay, Even in twins, using cell free DNA for trisomy 21, 18 and 13 is still recommended. Okay, that's grade 1B recommendation. So because these are so good for the typical aneuploidies, cell free DNA 4, 18, 13 and 20 went okay in a singleton and in twin gestation. Okay, so that's fine. And it's a good reminder that, quote, because of the lack of data cell free DNA, however, screening for sex chromosome aneuploidy and in twin gestations or in higher order multiples is not recommended, end quote. So you can only use cell free DNA. Guys, here's a good clinical pearl right here. You can only use cell free DNA for 13, 18 or 21, which has high sensitivity and specificity and is recommended in singletons and in twins. Okay? In singleton and in twins, however, we have no data on cell free DNA in higher order multiples. Okay, so singletons or twins, you're good. But quote, cell free DNA screening for higher order multiples are not recommended, end quote. So for triplets, cell free DNA has no data. So that's a clinical pearl. You can do cell free DNA 13, 18, 21, singleton twins. Singleton twins. But as a reminder, sex chromosome aneuploidy. So here's the, here's how again, here's a. Here's a little caveat here. Cell free DNA screening for sex chromosome aneuploidy in twin gestations is not enough data. Okay, so you can do autosome screening in singleton and twins, but sex chromosome screening using cell free DNA in twins, we don't have enough data. And you cannot do cell free DNA for any autosome or sex chromosome aneuploidy in triplets or more. Okay, so 13, 18, 21, singletons and twins. Yes, sex chromosome issues with cell free DNA not in twins. And then you cannot do cell free DNA at all in higher order multiples. Okay, I think that's fine. So we'll leave it at that. Cell free DNA screening for sex chromosome aneuploidy in twin gestations is not recommended. Now that's going to be our little segue as we get into talking about scas, sex chromosome aneuploidies or sex chromosome abnormalities. All right, Sex chromosome aneuploidies. All right, so just a quick reminder there, something else that did not change is that screening for microdeletions using cell free DNA is still not recommended by ACOG and SMFM using microdeletions it is not recommended for, for the routine general screening. If they're interested in this, then they really need to go for diagnostic testing as opposed to cell free DNA. That's one of the recommendations from the practice advisory which is in console series. So what have we said so far, kids? Very quickly because then I'm going to dive into the SCA part. Trisomy 18, 13, 21 using cell free DNA. Super good. Whether you're multiple or twins using cell free DNA for sex chromosome issues in twins limited shouldn't do it. Cell free DNA overall in triplets for more can't do it either. Okay. Because there's lack of data in those and the sex chromosome abnormalities in singletons we're going to get into here in just a minute. And once again, quote, as we just mentioned about microdeletions, we do not recommend routine general population screening for for any microdeletion condition patients rather should be offered diagnostic testing as opposed to cell free DNA screening for microdeletion syndromes. End quote. Okay, so I think that's good. With that. Very quickly now, let's jump into the sea part and why it is part of this practice advisory to be called Opt In. Opt In. Now, I was talking with a resident with this and I can tell they were distracted as they should be because they're doing multiple things. I'm like, hey, just FYI, we should do this. Or journal club, new practice advisory. Just when next time that we're in clinic, tell your other peeps, don't just check the box. Patients need to be specifically asked, which means they have to be counseled about some of the pros and cons of doing cell free DNA for sex chromosome abnormalities. Okay? And I'm not saying it takes 30 minutes to do this, guys. It literally takes like five minutes. And it's very easy. Hey, we can check the baby for sex chromosome issues. It's very good. However, Unlike checking for 21, 18 and 13, the accuracy of sex chromosome abnormalities, it's just not the same. The accuracy may be a little bit off. And if something's off, we will work together. I just want you to know that if something is off, it doesn't mean that necessarily something is really wrong because there's a higher rate here of some false positives. And we'll work through that. See, that's all it takes. It just takes a bit of counseling. They go, I accept that. Great, you have opted in. Okay. They don't need to go to a full counselor before they get their blood draw for sex chromosome Abnormalities, it just means talk to the patient about some possible reasons why if something comes back, hold on, it should be okay. But there are some false positive results for scas because mosaic in the fetus, the placenta could have a mosaism. If mom has some weird copy number variant that she's otherwise asymptomatic that may get picked up on a sex chromosome abnormality. And of course, if there's some kind of malignancy in mom, then that may be picked up by cell free DNA overall. Remember, that's one of the flags that we've learned for years and we've covered this, that if the cell free DNA shows some weird chromosomal issue that's not compatible with the child living or looking normal, and you do it, you know, second trimester, detailed ultrasound, like, baby looks fine. If you find a weird result on cell free DNA, that's weird because somewhere's picking up aberrant DNA and that may be reflective of mom harboring a malignancy. And this is also in that console series 74. It is rare. It's like one in 1500 pregnancies. But it's been reported and we've covered this, guys. The unanticipated finding of a patient undergoing cell free DNA and then later found to say, oh my gosh, there's probably a malignancy is like 0.03 to 0.12%. So extremely small. But it is out there and we've had some. Okay, so just to be aware, if a cell free DNA result comes back with something that's like really funky and you're like, that is not even compatible with a living child. It's so weird. Or there's multiple autosomal trisomies identified on the screen, then patients need to be told, you know, hey, we took a look at the child. I don't think it's actually coming from the child, but somewhere there's this weird DNA that maybe, maybe it's coming from you. Now, what to do with that is unclear, but there's a lot of guidance. I'm a big fan of whole body MRI along with, of course, a full physical exam. You can do some blood tests like a cbc, complete metabolic profile, fecal occult blood testing. Some people start with a chest X ray and breast imaging. I think that's reasonable. But there's all these different avenues to do this. The point is, do not go, oh, that was so weird. Boy, that cell free DNA was funky. But baby looks fine. It's not the child. Never. It's just A false positive? No, no, no. Weird, funky results on cell free DNA may harbor maternal malignancy and that can get picked up. Okay, so that's part of the pretest counseling. Guys, you see this? Which we should do for everything, not just for the sex chromosome abnormalities stuff. So false positive results can happen for a lot of reasons. Did you only know even fibroids can do it? Or recent blood transfusion. If she had a recent blood transfusion because it can pick up some weird DNA from those transfused cells, that can be a harbinger of a false positive. So ask patients. These are weird things. If she's had a previous organ transplant, that can trigger weird cell free DNA stuff. Guys, those are the outliers. I get that. The point is, false positive results for cell free DNA overall do happen. And they're much more likely to happen when we screen for sex chromosome abnormalities. Okay, so short of it is, yes, screening for sex chromosome abnormalities are very accurate. It's very, I'm sorry, it's very sensitive and specific. But the accuracy, the accuracy, which is different, has to do with positive and negative predictive values. The accuracy for cell free DNA for test chromosome abnormalities is not as good as it is for autosomal trisomies. All right? And that's the catch. I think we should definitely screen for this. I think it's worth it with proper patient counseling. But as I'm going to read right now, out of section 2.13, patients need to know the accuracy of cell free DNA screening for SCA is lower than the most common trisomies, especially 21 and 18, end quote. And in one small study, 8.6% of positive cell free DNA results for an SCA, in other words, found some sex chromosome issue. 8.6% of those had to do with maternal sex chromosome mosaism, meaning mom is totally asymptomatic. There's nothing wrong with her. It's not a cancer. She just carries a mutation in one of her cell lines of a mosaic and that's what throws it off. Guys, that's almost 9%. That's a lot. Okay, so 9% of abnormal cell free DNA for sex chromosome abnormalities can be traced back to maternal mosaism. And all I'm saying is this is good news, actually, because if you have a positive 13, 18 or 21, it's a little bit more worrisome. Even though interpretation and the positive predictive value is helpful to know based on maternal age. And you still need a diagnostic test. These are just screening tests. But having an abnormal Sex chromosome abnormality is not the end of the world per se. Okay? Because there are some false positives that can be detected there because of Mosaism. All right, now here's a good question to ask a resident or one of your med students. When we do cell free DNA, is it better at picking up an abnormality in the X chromosome or the Y chromosome? Anyone? What is the higher sensitivity and specificity for looking for a sex chromosome abnormality? Is it something that contains an X or a Y? Anyone? Now this is pretty clear. Think about it. If we're looking for Y chromosomes, there can be a lot of contamination there because the carrier, aka the mama, has two X chromosomes. She's 46xx, so it leaves more room for error there. However, mama should not have a Y chromosome because she's a woman. All right? So it's much more sensitive and specific. Cell free DNA is much more sensitive and specific for disorders involving the Y chromosome than those involving the X chromosome because it's living in a sea of X chromosomes, which is the mother. Does that make sense? So just things to keep in mind. Oh my goodness. All right, I told you I wanted to run through this very quickly. So a couple of things that did not change. Autosomal trisomy screening with cell free DNA for twins and singleton. Boom. Way to go. Still considered great. Still considered highly accurate for 18, 13 and 21 offer those twins should not get cell free DNA for sex chromosome abnormalities and cell free DNA should not be used at all in higher level multiple the meaning triplets or more. Okay, so we already covered that and SCA screening should be an opt in process. So let's do this very quickly. We're going to wrap this up. What do we do now? When a patient has a abnormal or a positive cell free DNA for a sex chromosome anomaly or aneuploidy sca. Well, number one is talk to him down from the fence, tell them a lot of these are false positive. It's okay, but we need more investigation. Now the accuracy of this test, the positive predictive value of this really depends on what the test found. They are not all the same. Okay, so the positive predictive value for cell free DNA depends on what is found. So the sensitivity and specificity, in other words, the accuracy of these things really var theories based on what abnormality is discovered. And that's why every result, guys, at the bottom, you got to read the extra pages that come with it, they tell you how accurate this result is based on the abnormality that is found. All right, so number One, take a look at the positive predictive value of the test. Talk to a medical geneticist or your friendly MFM so that they can give the appropriate information to see if they would like to pursue the next immediate step, which should be number one, fetal diagnostic testing and number two, consideration for maternal karyotype assessment. Now that is especially valid guys in those who have an issue with the X chromosome on screening. In other words, if the result comes back 45x turners or 47xxx, that's used to be called the super female 47xxx. In other words, an extra X chromosome, if the cell free DNA says Turner's missing an X or just the opposite, an additional X, then mom should have a maternal chromosome assessment to figure out if mom is a mosaic. Okay? Because those are highly likely to be false positive because mom is actually carrying a cell line with some of those. Right? Remember, mom is asymptomatic, so the next step is fetal diagnostic testing. So offer mom complete amniocentesis if desired. And mom should be screened if there is missing an X or if there is an extra X. And again, MFM will help figure out which is best here. Now again, the positive predictive value really does depend on what is found with higher sensitivity and specificities, as we've already mentioned for the Y chromosome. But look how these, how these accuracies change based on the specific SCA found. All right, so for 45x, here's the good news, because this is most likely the most likely abnormality to come back. Oh my gosh. Maybe the Tao has Turner's which requires again detailed fetal anatomical survey. For 45x, the positive predictive value just by itself, okay, without talking about specific ages. Listen to this guys. 32%. For 47 triple X, the positive predictive value was 57%. If there is 47xxy, if that's what's found on cell free DNA, the positive predictive value is 67%. And if it is 47xxxxy, then the positive predictive value is 70%. My point is, I don't want you to necessarily remember those numbers, except that 45x positive predictive value is like 30%, 32%. Okay? And that's good news because that takes away some of the stress for patients and it should that not all of these are correct. All right, now as we remember, 45x is Turner syndrome. 47xxy used to be called super female. Those require mom assessment to make sure that mom is not a mosaic carrier. So the positive predictive value really is Based on age. And it doesn't always mean that something is wrong with the child. Right. 45x is Turner 47xxx, triple female, super female or triple X syndrome. 47xxy. Remember if mom had 46xx but has a Y chromosome hanging around, that's called Klinefelter. And just the opposite, if mom has two Y chromosomes 47 XYY, that is called Jacob syndrome. These are relatively rare. Jacob syndrome is like one in a thousand. All right, so Turner only has one X. Klinefelter has two X's with a Y XSY. And then Jacob's syndrome is 47 XYY, has two Y chromosomes. These are important things to remember. Turner's Klinefelter and Jacob as Jaco. Two Y chromosomes. Just things to keep in mind. All right. Okay, so what do we do next? The first step, if mom is found to have an abnormality in sex chromosome screening. Well, again go to the pretest possibility. First thing is offer next step would be to offer fetal diagnostic testing and consideration for maternal karyotype, especially with Turner's or with xxx. So missing one or an extra X just to determine if mom is is a carrier or not. Always a good idea of course to have a good fetal anatomical survey for other stuff that is weird because that also helps with post test counseling. Podcast family. This is the end. So here it is. What is the role of cell free DNA in fetal sex determination? In fetal sex determination. So is it a boy or a girl? Okay, well it's science. And we do a lot of investment in science to do sciencey things, not just to figure out if it's a boy or a girl. It's science. So in other words, we do value the input that science gives us. Even though people use this for a toy. I get it. And SMFM does have a statement for this quote. The non medical use of cell free DNA solely for fetal sex determination is not recommended. End quote. In other words, this is a test. Ideally this was done to look for X linked disorders and now we're just kind of expanded it to look for abnormalities of all sex chromosome abnormalities. Which now requires guys as an update, an opt in approach. Not that we shouldn't do it. We should absolutely do it once patients understand the limitations because the accuracy is not as good as for autosomal trisomies. I've done a lot of repetition in this guys, because these are things that we don't usually do unless you're an MFM or genetic counseling. And so it's just good for us to kind of sink into our brains, okay, into our hippocampus of what we're talking about here. So these are very accurate, they are very good, but again, nothing is perfect. So when you're doing an over the counter direct to consumer test for a fetal sex determination, they're looking for the Y chromosome. And yes, they're good, but the whole take home of this is that it's not really a toy. It's meant to do much more than just is it a boy or girl? It's looking for sex chromosome abnormalities. And as of right now, the official stance is the non medical use of cell free DNA solely for fetal sex determination is not recommended. And I'm harboring on that because patients will ask you, oh, can I buy the test over the counter so I can see if it's a boy or girl? My answer would be, why don't we do that for you? Because we're going to do much more than just tell you if there's a Y chromosome we're looking for to see if there's any abnormalities there, if you understand the risks and limitations. Okay. But again, patients can do it whatever they want to do and I'm not opposed to them doing it as long as they understand once again the issues involved. All right, but pretty darn accurate. There was a meta analysis that did look for the test performance for the Y chromosome. I mean, we're talking about sensitivities like 96%, specificities of close to 99% with a positive predictive value of 99%. They work, but again, things that are based on science and they're meant to be medical tests maybe shouldn't be done for entertainment purposes. So, podcast family, we've covered two big things here. ACOG's practice advisory for January 2026 and the original console series number 74 from SMFM which was endorsed back in November of 2025. There are eight total recommendations in this practice advisory. Pretty much we've done them. Number one, recommend cell free DNA screening for the common aneuploidies like 21, 18 and 13 to all patients because they're very accurate. Also recommended that sex chromosome anomaly screening should be an opt in process. We've talked about. Microdeletion screening is not recommended by cell free DNA. Is not recommended by cell free DNA. I had to say that twice. And then even in twin gestations, using cell free DNA for 21, 13 and 18 is a go. However, because of the lack of data, cell free DNA screening for sex chromosome aneuploid using twins and cell free DNA screening in triplets or more. That's a no go. All right. And then the last thing just to throw in there is that cell free DNA for large genome wide copy number deletions or duplications is also not recommended, end quote. So using things looking for a copy number variants needs formal diagnostic testing. All right, so no for microdeletions and no for, quote, large genome wide copy number deletions or duplications, end quote. That should have formal diagnostic testing. Wow. Was that a lot? It didn't really seem like a lot of info. I think I just kind of harbored on that a lot because I kind of want to do it justice because there are important points here. Very, very good tests for sex chromosome abnormality. They are very good. That has to do with sensitivity and specificity. But those sensitivity and specificity is different than accuracy. The accuracy of cell free DNA screening for scas is lower than that for common trisomines. In other words, it has to do with positive and negative predictive values. All right, podcast family, you may have to listen to this episode more than once. There's a lot of stuff in there, but I'm done. I think we've done what we're supposed to do. I gave my little hat tip to Ron Burgundy. It's science. It's science. It's true. Podcast family, we thank you for being part of our podcast community. Thank you for all the support. We really do care for you. Thank you for all of your messages. And now that we've done all that, Michael, let's. This is way too long. Let's get out of here one more time. Come on, let's do it. It's science. It is. It's science. We'll see you next time. Let's take it home. This has been Dr. Chapa Zobetyn, no Spin Podcast podcast family. Thank you for your support. Thank you for listening. And as always, we'll see you on another episode of the no Spin podcast. Sam.
Episode: cfDNA: Jan 2026 Practice Advisory
Date: January 10, 2026
Host: Dr. Chapa
Topic: New ACOG & SMFM Guidance on Cell-Free DNA (cfDNA) Screening for Fetal Chromosomal Abnormalities
This high-yield episode reviews the latest 2026 ACOG Practice Advisory on cfDNA for screening fetal chromosomal abnormalities, which updates and supersedes Practice Bulletin 226. Dr. Chapa provides practical pearls for medical students, residents, and clinicians on what has changed—especially regarding screening for sex chromosome abnormalities (SCAs)—and what remains the same. The episode drills into the science, accuracy, counseling, and clinical management implications of these new recommendations, connecting them to SMFM's November 2025 Consult Series 74.
“Medicine moves fast. Now, the reason medicine moves fast is because science, on which medicine is based, also moves fast.” (00:36)
“Trisomy 18, 13, 21 using cell free DNA. Super good. Whether you're multiple or twins…” (12:45)
“Micro deletion screening using cell free DNA is still not recommended.” (07:50, 12:30)
“By asking them to opt in, it now puts the challenge and the task on us to do our job, which is tell them the limitations of cell free DNA for sex chromosome abnormalities.” (03:45)
“Cell free DNA is much more sensitive and specific for disorders involving the Y chromosome than those involving the X chromosome, because it's living in a sea of X chromosomes, which is the mother.” (24:15)
“The non medical use of cell free DNA solely for fetal sex determination is not recommended.” (34:10; also 06:20, 33:30)
Humor:
End of Summary.
For further details and specific scenarios, listen to Dr. Chapa’s OBGYN Clinical Pearls, and refer directly to the 2026 ACOG Practice Advisory and SMFM Consult Series 74.