Mahmoud Ismail, MD, Professor of Obstetrics and Gynecology and Co-Director of The University of Chicago Medicine Perinatal Network, gives an in-depth presentation on maternal fetal medicine.
MAHMOUD ISMAIL: We know that there are three levels of prenatal care, to answer the question. There is the routine prenatal care, and that's mainly done by OB/GYN, midwives, nurse practitioners, family physicians, and if there's any issue they consult the maternal-fetal medicine. Then the specialty care, which is another higher tier, and that would be done mainly by the OB/GYN or the family physician. And they can refer to the maternal-fetal medicine. And the 3rd tier, which is this subspecialty care, which is mainly maternal-fetal medicine. And they decided that the job of the maternal-fetal medicine is even to consult the obstetrician gynecologists on cases, and then they write a consult and they send them back to you. Or it could be consult and co-manage in certain complicated patients. We consult, but they say look, this lady is really complicated. You want your patient, you want to deliver her, great, but we want to co-manage her with you 'til you reach the point of the delivery. Or some people say, look, I have enough headache. Take the patient. This is yours, and we don't want to bother with it. And the main thing, what we do mainly, is look at the fetal indications plus maternal indication. Maternal indication is too long from preeclampsia, severe preeclampsia, diabetes. I just delivered a lady last night who have severe asthma. In the middle of the C-section she have asthmatic attack and they have to intubate her, and she cough. And I have an intern doing a C-section with me, an old man. And it took us a while. And anyway, the intern gave me a hug and then said, Dr. Ismail, you were so patient. And thank you. So we went [INAUDIBLE]. So that's fun. The main thing in the fetal indication is the structural abnormalities, and this is what we're going to be talking about today, and I want you to wake up with me. This is a beautiful picture of a nine week embryo, and that circle behind it is what? Anybody knows? Yolk sac, thank you very much. That's the yolk sack, and that's the baby in there and how that they look inside there. So the detection of fetal malformation is in the first trimester, and in Europe they're actually more active in calling things too early than us in the United States. We say we can tell you 100% around between 11 and 14 weeks if the baby's heart is out. That would be ectopia cordis. Or if the baby have anencephaly. Stuff like-- we can call it early. But things between 50 to 99%, things like cystic hygroma, gastroschisis, encephalocele, limb reduction, and stuff like that. And below, spina bifida is not that easy to call that early. You may have to wait after 20 weeks or so really to call it. And then sometimes, certain things you cannot detect, at zero detection, that you may not see it with your ultrasound at 20 weeks. You have to wait later. Especially kidney and sometimes gastrointestinal issues. This is a beautiful baby. I just wanted to show you the normal profile, so because we're coming to abnormal profile. Look at the eyes, the distance between them is nice. It should be actually two and a half times between extraorbital to intraorbital distances. And that's the baby, how it looks like. We should see the nasal bone. And I don't know if I have it. The pointer here. And the rest, that's normal for a profile and normal face. I want you to look at this lady here. This baby. One of our interns two years ago-- the patient came to triage-- and came out and said, Dr. Ismail, I think there's maybe something wrong with the baby, it's head. I said, what's wrong? Interns knew. And he's, I think this lady what we read in the book the frog-like picture. There is no head, there's no top to the head of the baby. And then I went back, and I looked, and I wrote that guy's evaluation. This is a genius, I mean three months as an intern and he can diagnose anencephaly like that. So anencephaly is actually rare. We see it maybe one in every 3,000 deliveries. Main risk factors of pregestation diabetes more than anything else, obesity, hyperthermia. And it's uniformly fatal, postnataly. These babies don't die. They have a lot of fluid around them, and some of them, if you don't induce them, they go post-term. And the reason-- once the skull is off, the brain gets absorbed because of the amniotic fluid around it, and it won't. So they stay alive, they breath, their heart beat but there is no upper faculty in them. And usually they are good donors for other organs, because there is nothing chromosomaly abnormal in them. Here's another lady who turned out to have trisomy-13. And look at the head. There is no brain tissue. This is what we call holoprosencephaly. The whole thing is gone. And these patients usually-- we see them one in 8,000, in the second trimester mainly. It's 40% of them are chromosomal, 75% percent trisomy-13. And maternal diabetes, again, increase the risk 200 times of having this anomaly. And if chromosomes are normal and the craniofacial are normal, then these babies may have long term survival, but they of course, mentally, they're usually way behind. And here's a story of a young lady broke my heart. She's 22 years old and her boyfriend is 23 years old. He's in college, and she's in college, and they met in college. And they have a beautiful life. They love each other, and they came for ultrasound. And in the ultrasound we see-- do you have a pointer? How can I use the pointer? Oh, here it is. If you look here, this is the choroid plexus. And when we see the choroid plexus dangling like this, that's a bad sign. That means we're dealing with-- So around 25 weeks, was referred to me 25 weeks. And she came and she said Dr. [INAUDIBLE] told me, if there's any chance, you would be my doctor and you'd do right. I said OK, you come in here, but why do you want to carry this baby? This baby is already have hydrocephalus. And I don't know how is the outcome for this baby? How is the ability, the cognitive ability of this child? She said, look, we want to keep this baby. Then I called her mom, and I called her mother-in-law, they both came next time she came. They said, we have the full support for them, please continue their pregnancy. So they have large intracranial ventricles, more than 10 millimeters. That's when we start having what we call ventricularmegaly. 10 to 12 millimeter would be minimum, 12 to 15 is moderate, after 15 millimeter, then it's severe ventricularmegaly. So this lady came back, and at 30 weeks things are getting a little bit worse. Then at 34 weeks I could not take it any longer. I said, look, I have to give you steroids, I have to get this baby out. If there's any brain tissue left, I want that to be there. So I called Dr. [INAUDIBLE], I said, look, I have to get this lady out, and you have to be in town. So he gave me have time, and then we find the time that he's in town. And I sectioned her, because the head already around 10 centimeters or more. This would not go through normal vaginal delivery. We got the baby out, and neurosurgery took him, did some work on him, and the baby's still alive. Baby did well in the nursery, and we just saw her last week. We put Merina in her so she should not get pregnant again until she finished college. So this is the-- it's enlarged intracranial, it's usually more than 10 millimeters. 40% associated with CNS, or extra-CNS abnormalities. And this baby, luckily there was nothing else wrong except the aqueductal stenosis. Yes? SPEAKER 1: I have a question. [INAUDIBLE] craniocentesis at all? [INAUDIBLE] to get some of the fluid out? MAHMOUD ISMAIL: Then they will-- no if you do that they will bleed, and then you'll move from fluid to blood in the brain. it's not easy. SPEAKER 1: It's not done anymore? MAHMOUD ISMAIL: You do it if you want the pregnancy not to continue, then you will have a dead baby. They wanted a living baby. Then we did the karyotype, of course. We did an amnio, karyotype, and the baby was normal karyotype. So in 12% of the time, these are abnormal karyotypes. Moving on another one, meningomyelocele, you're all familiar with that, and you all have seen that patient is ours. All these pictures are ours, by the way, at the University Chicago. None of them-- If it's not ours, I'll tell you it's not ours. So this day they came in, and here is the issue with the meningomyelocele, it's an open spinal cord defect protrude dorsaly, not covered by skin associated with spinal nerve paralysis. It happens maybe one in 2000 pregnancies. Risk, of course, for patients to have this obesity, patients who are anticonvulsant medication. There's other risk factors which we can be easily prevented with the short interpregnancy interval. Normally, we tell the patient you have to space your kids 18 to 23 weeks is the optimal time for interpregnancy interval. And that was one was of the board questions for those who took the board recently, what's the interval should be. Then genetic of course, polymorphism and stuff like that. We did a karyotype. The karyoptype was normal, so she carried the pregnancy. And then usually, most are isolated and multi-factorial. I have to still tell you, there is a study going on now in the United States in two or three centers in the United States to treat these in utero. They will go open the uterus, suture, then close this and put it back. And this is called the MOMS study, M-O-M-S study. And those who do it, they say this is the outcome for these babies is better than the ones that you suture after the baby is born and delivered. And they say better as far as their legs, better as far as paralysis, urinary bladder control, and the rest of their life. This lady, this patient would not go to other centers. We kept her. We delivered her. And Dr. Frem actually immediately, after they delivery, they took her to the OR in Comer and did this study. This is what we call the non-nuchal fold. A lot of patients come in the first trimester. Actually, American College say that every patient should pregnant lady should have a nuchal fold. It's an area in the back of the neck between the skin and the lower and the area below the skin. And it should be less than 25 millimeters. Anything above 25 millimeters is an indication. It's not 100% that you are dealing with some chromosomal anomaly. So patients, we do that. Then, we take about from them and we've send for first trimester screen. However, first trimester screen now I have been have been challenged by something in the market called cell free fetal DNA. It turns out that every pregnant lady, some of the fetal DNA will go in her blood and will circulate. And it stays there, then when she delivers the baby and 30 days after that, and then disappears. If she gets pregnant again, another fetal DNA, another cycle and so on. So now there are three or four companies in the market that only do this the cell free fetal DNA. The names are like Maternity 21, Harmony, Verify, and something, something. None of the universities are doing this. And these people put tons of money. And they say 99% sensitive, 98% specific. And time will tell. And we'll see if that's to hold true or not, only for high risk patients. And I find that a lot of practitioners in Northern Indiana, and some in the south suburbs just do it on every patient. And I keep telling them look, if you do it on every patient, this test is not made for low risk patients, only made for high risk. We'll start having false positives because you're going to test when it's not really indicated for that. So whenever this nuchal fold is big, then we start looking for problem. And here is a case of cystic hygroma. This whole thing, this is the skull. And then we found this huge mass behind the skull with lots of septation in it. This says they have cystic hygroma. She's one of our patients also. Anyway, it's more common than the other one, 1 in 350, 50% of the time these patients a aneuploidy, XO, and those without aneyploidy, 50% risk of major structural malformation, mainly cardiac or skeletal. A prenatal evaluation with no additional abnormality, 5% will have residual risk for abnormal pediatric outcomes. They all have stiff neck when they live. When I was resident, I had a nurse who have cystic hygroma. And she walks with that, because the tissues are scarred in the back. And this is, for those what are taking their boards, this is the trisomy 13. And you see the chromosome 13, three of them. And it's famous for mid line cleft lip and cleft palate. And look at the fingers, they've kind of difficult-- they write that in the textbooks-- and the rocker bottom feet and some of the things in there. And whenever you talk about trisomy 13, you have to talk about trisomy 18 because both of them the babies don't make it, don't live. And with this case, here is the chromosomes, three chromosomes of 18. Baby have special hand again, on top of each other and the feet are also the rocker bottom feet. And they both have cardiac anomalies. And they have oral porencephaly and have other things like that again, and again. There's a normal profile. And I want you to look at the face. Look at the nasal bone. Look at the nose, mouth and the chin and the cheek. Because I'm going to show you other ones, please bear with me because this lady is still pregnant. She came to us and she have twins, mono/di monochorionic, diamniotic. And here is the baby when we looked with the ultrasound, we were arguing is this the nose and this is the mouth and this is the chin? Or the chin is there? So immediately we went to what we are blessed with, the 3D, and we found this is the nose. This whole area is the mouth and the chin is way down here. So this is what the court micrognathian. And we see that with trisomy 13. We see it without trisomy 13. This is twin A and here is twin B. And we told ma'am, you're having a problem called a micrognathia, and the problem with it is mandibular hypoplasia. These babies at birth, they need to be intubated because they cannot breath. And they have a lot of major problem in feeding them. And she would not let us do an amniocentesis on her. She's still pregnant. She's 24 weeks now. And we told her look, there's a trisomy 8 and trisomy 9 and 13, and 18 are associated with this micrgnathia. A lot of sometimes [INAUDIBLE] causes that, and a lot of syndromes that have micrognathia in them without trisomies. And if you going to get amazed, look at this one. This is a cleft lip and cleft palate. We see that. We see that with patients who have seizures and on seizure medications. And sometimes they totally non-syndromic. It happens in 1 in 700 births. And 25% of them may have other malformations. If they don't have other malformations, it's easy to get the lip and the cleft palate taken care of. Here's another case. This lady came to me from Indiana because they don't know where is the stomach and where is the heart and what's going on in this lady. So this patient we found when we looked at her, we found that the stomach and the heart are on the same level. And then we put 3D. And here's the diaphragm and this is the chest and here is the stomach and here is the heart. So what happened? There was a hole in the diaphragm and the stomach went up. And of course, with the stomach some bowels went up and it pushed the heart from the left to the right. And then we have congenital diaphragmatic hernia. And she did not want to do anything to the pregnancy. She wanted to keep the baby. So we kept the baby. We kept her pregnant. Actually, I sectioned her last week. She has testing every week. We did Cesarean and I said please let's do it vaginally. She said know no, I don't want anything to happen to the baby. I want to give the baby every chance in the book to survive. So she delivered. Before we delivered, we call ECMO service because this baby needed to be put on ECMO immmediately. And then happened? They took the baby from Labor and Delivery, intubated, to the NICU, baby cried at birth, then after that. They said the baby could not maintain. So they have to put the baby on ECMO. And the baby stayed actually 10 days on ECMO. It turned out the baby's lungs are very stiff, very little lungs on them. And the decision is waiting on the parents to make up their mind what do they want to do and the ECMO team also. But the beauty of all, what I have for you today is this. This is a baby with a huge mass in its neck. This is what we call cervical teratoma. We watched this from 18 weeks until 36, to 37 weeks, 35, 36 weeks. Do you remember that, Kathy? Something like that. Then this mass got bigger and became more cystic and have more blood on it. So when you have a case like this, then you have to call in all your friends, whoever will do you a favor. So we got the ENT, because we know this lady need to be intubated-- this baby is a girl by the way-- to be intubated immediately. When we have the surgeons, the pediatric surgeons, we need anesthesia. We need neonatology. And you need OB-GYN and Kathy and myself and all the people there to do the case and get the baby. So what we did, here is the case. We did something called EXIT procedure on this baby. And here is the baby after birth. But the man was holding the baby with the putting the tube in the baby is Dr. Baroody, Fuad Baroody from ENT. Myself is standing here somewhere. These are my hands in the picture. , Anyway and that's the baby. And that baby was intubated, taken to the surgery. But the delivery of this baby was magician. Why? Because the idea is you do not want to get the baby out. You need to keep the placenta going, pumping. And the baby getting blood from mom til the ENT put tube in the baby, and the baby can breathe. And so we made the incision, left the percent attached, put the baby on the table immediately net to us. And Dr. Baroody was scrubbed and he intubated the baby. Well, it was a lot of production. It's not easy. Then, the baby was taken after that to surgery and the baby actually made it. To be honest with you, it was a miracle. And here is "The University of Chicago Saves a Baby With a Rare Tumor." And they made a publication and I think it's went to the news. And there's the lady and her husband and her other baby. And they are very happy with the outcome. [APPLAUSE] All right. Moving on, we see things in the chest sometimes. I'm going system by system and please bear with me doctors. Let me have ten minutes more. Can I? Yeah, all right. After this crap shoot. [LAUGHTER] All right, so here is a baby and here is a four chamber heart, nice chest. And then, there's a big mass instead of the lung here. This is what we call CCAM, or congenital cystic adenomatoid malformation. And after we learn the word CCAM, they changed the main name and said no, it is CPAM. It's cystic pulmonary adenomatoid malformations. So for those who are taking the board, this is the new name. Be careful. Anyway, these legions usually, most of them go away by the time the baby is delivered. Every now and then, they stay. And if they stay, then the pediatric surgeon has to take it because the baby will have pneumonia after pneumonia after pneumonia. And then they will be in trouble. Now, I'm going to quiz one of the audience and tell me what do you see here? I delivered this lady myself, because nobody wanted to deliver her. The lady came to me earlier in pregnancy because they won't know what's wrong with those baby are they in one sack, in two sacks, arm between them, what's going on. It turned out that this lady had conjoined twins. Conjoined twins usually happened after division of the embryo after day 13. So they want to do three. If the egg split, you have di/di twins. After three to eight of fertilization, then it will become mono/di. And if between 8 and 11, mono/mono. After that, then you have conjoined twins. Then after that, the don't split the eggs. That's it. The whole thing is made. But this is interesting twins. They are conjoined by-- look here. Here is the spinal. Here are spines and here is another spine. So they have two heads. So do we call this para 1 or para 2 now? That's the question ethically. Ethics got involved in this case because they say no, these are two human beings, two heads, two brains. Once you have a brain, that's a human being. So two babies. And they have one arm on one each side and one leg on each side. They have one heart, and one abdomen and two kidneys, one stomach and bladder, two kidneys. So what they did, I called I think it was our plastic surgeon, Gottlieb, Gottlieb. Gottlieb got involved and they split them. Of course, you have to give the heart to somebody, one of the two. So one of them lost its life immediately. And I think the other one they tried. And I really am not sure of the outcome because we had three or four conjoined twins. And I know two of them made it, and two did not make it. So I don't know which one of those. But I know I delivered this lady. A week after I deliver-- I don't know how it got to news-- I got a call from Arkansas. A doctor there said Dr. Ismail. I said yes. He said I heard you delivered twins conjoined and you did no transverse c-section. How did you do that? I said, why are you asking and who told you this. He said oh, the news is all over the place. I want to know what did you do. I told him you go ahead and you make a low transverse c-section and make it smile all the way up. And then what happened? It was a nice. What I did, I actually delivered one head and then I went and delivered the other head . And then after that, I just pulled it with the shoulders. And he said are you sure I can do that. I said look, if not send her to me to Chicago. I'll do it for you. I don't know what else to do. He said I'm going to do classic. I said you do whatever you want to do. [LAUGHTER] I'm just telling you. I told him this is the Ismail way and that's your way. Chose. Anyway, but these are there and whenever-- whenever we see them we just laugh. And I don't know how he got the news, but I think one of our residents is from that town. And he went home and he told him what happened. See you residents can be your best ambassadors. They tell you about these things. The next one is very easy. And I'm sure all the people in the room know. A baby with bowels are floating in the amniotic fluid, that's gastroschisis. And then, it is common. It's like 1 in 100,000. But the people it's isolated abdominal wall defect. And usually, the defect is to the right of the umbilical cord. Wherever the umbilical cord goes, to its right you'll find the hole. And the bowels get out. And the only thing that gets out is really bowel, nothing else. Usually young ladies and usually smokers, between 18 and 22. Every gastroschisis I saw is a young lady, smoker between 18 and 22. What happened? I don't know. We think it's an insert that tapped into the abdominal wall, some vascular occlusion early in the pregnancy, around day 28 of the pregnancy. And of course, some of these patients, I know a lady that because it's the bowel stays there, at the end when we deliver out, the bowel was dusky. And they have to take most of the bowel. And the baby then after that got infected, and then it died. But it could happen. But most of them do well. Most of them do well. Now, we cannot say anything about gastroschisis without saying about its cousin, omphalocele. Omphalocele is the bowels are out in the amniotic cavity, but they are covered with membranes. So the umbilical cord is actually right here. It doesn't get to the baby's abdomen. And this problem with omphalocele, and this is with 3D picture. This is a complication that has a lot of chromosome abnormalities, mainly trisomy 18. It's a larger defect and sometimes you have liver in it. It's rare, but when it happens-- actually, we have a patient right now who has this. We did an amniocentesis. Luckily, she does not have-- two weeks ago, she did not have any chromosomal anomaly in it. So this baby, actually, there is nothing in the abdomen. So once she is delivered, the neonatology they put them in a silo and attach it to a hanger so the bowels and the liver and everything takes time. And some times it takes a month for all this to go back. Every week they close it slowly and slowly. This is easy. This is a young lady who came with a baby with multi-cystic kidney. Usually, these are not rare. It may happen once in a 1,000, usually unilateral and usually the babies do fine, if the other kidney is OK. And I have to tell you a story that I lived with last week. And this is this case. This lady came to my office in Indiana and the minute she sat in front me in the consultation room, she started crying. I said what are you crying about. She said because they told me my baby this and my baby that and my baby this and my baby that. So we did an ultrasound on her, and we found this whole thing. And these are the baby's kidneys And we could not see the baby. The baby was so pushed down. So we called Dr. [INAUDIBLE]. Immediately, it crossed my mind I'm dealing with one of two things, either posterior urethral valve or pot syndrome, or potbelly syndrome. So we did an MRI and I went down to see Dr. Orum. And he said Dr. Ismail, that's the biggest bladder I've seen on a baby in my life. These cases make most worry 10% of the all urological anomalies. What we do is we put a needle there, take of the fluid and throw it away. The next day, bring them back and put the needle, take the fluid and check for electrolytes, B-creatinine. We want to make sure these kidneys are functioning before you go any further. So the fluid was taken out. And after that, the picture changed. A week later, there was fluid around the baby. And that was injected then. When you put the needle, you pull out. You see if you can just inject saline there to see where you are after that. Anyway, they're still contemplating if they will want a catheter between the bladder and the amniotic fluid. If they want to go through it or not, the kidneys were echogenic. And the father was can you assure me that my baby is going to be OK. I said I really can't. I don't know what's the status of the lungs. I don't know what's the status of these kidneys. So they're still contemplating and talking to the family and to their support group. And this is it after that. But here is a story. Again, this is Mrs. KS, I call her. I saw her twins, mono/di again, one chorion, two amniots. And one baby is perfect, 20 weeks. The second baby has a lump in its back. That lump was small, five centimeters. Then it went up to 10 centimeters, but started having these cystic areas in it. By 28 weeks, I talked to Dr. Kendal and our pediatric surgeon. And they said well, by 30 weeks, if the baby have hydrops, this baby is no good. It's not going to live. So by 30 weeks, the baby had hydrops as if they were looking in the future. So I called two center. I called San Francisco. They deal with these. And I said tapping that demand in San Francisco is married to Dr.-- one of our previous residents-- [INAUDIBLE]. And he said look, this is no good. So the question is what you're going to do. Here is a living baby, good and other baby with this. So I gave her steroids and I talked to the family and we consulted with me. And at the end, I told them I have to get this. If there's a chance for this baby to live, I have to take it out. I don't want this baby to die and then it will affect the other baby. So you lose two of them. So by 32 weeks, I did a c-section. I got the babies. The first one was fine and lived and went home. And this one went into surgery and lost a lot of blood. And the outcome in this case, was not optimal because they could not hold, could not stop the blood loss. Because it was actually intrapelvic also. And the last case is a beauty, and I know I took more than my time. And this is a case and this is the baby's heart in the amniotic cavity. I have a nice video, but it could not fit. It would have been perfect. This is ectopic cordis. Baby lived to 34 weeks. And we were ready, actually, doc my plastic surgeon, myself, neonatology, and ethics and everybody in the University of Chicago to do it. She told us to come Monday for c-section. Monday morning she came. The baby was dead. And since then, I promised myself I'm not listen to anyone. I'll go with my guts. I want to deliver this baby at 33 weeks. Anyway, so ectopic cordis, we did fetal echo. Supposedly, this is here plan, cesarean delivery at term, neonatology, pediatric surgeon, cardiac immediately available, post natal survival rarely reported, but there is some omitted. Once you deliver them, you put them in water so the heart keeps pumping. All right and this rare. This is a club foot for those who want to see club feet. I'm done. I'm done yeah. And the last one is-- I'm done-- this is a lady who is diabetic and this baby one leg is fine and the other leg is not fine. And this is the baby with hydrops. And we're working to see if it's immune or non-immune. and Thank you very much. [INAUDIBLE], so goodbye to you. [APPLAUSE]
