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#1
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Suspected omphalocele at 8 weeks
I went for my first ultrasound last monday, at 8 weeks, and the doctor
found out a big mass coming out of the baby's tummy, and they suspect it can be omphalocele. It is more or less as big as the tummy itself. I'm going back at 10 weeks for the second u/s, and if it's still there they'll probably offer to do a CVS. Is there anyone out there that saw this so early, and when did they confirm the diagnosis? And especially, did anyone see this, and then it disappeared and their baby was fine? Thanks! |
#2
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Zara wrote:
I went for my first ultrasound last monday, at 8 weeks, and the doctor found out a big mass coming out of the baby's tummy, and they suspect it can be omphalocele. http://www.pedisurg.com/PtEduc/Omphalocele.htm "As the fetus grows in pregnancy, the intestines grow and get longer and project from the abdomen into the umbilical cord. This growth is taking place from the sixth to the tenth week of pregnancy. Normally the intestines return rapidly into the abdomen by the eleventh week of pregnancy. If this fails to happen, an omphalocele is present." I also found a PubMed cite from 2000 (link contains nasty stuff almost certainly not relevant to you; if I were you, I'd be disinclined to read it - http://www.ncbi.nlm.nih.gov/entrez/q...&dopt=Abstract) discussing an omphalocele diagnosed at 11 weeks, and the authors say "this is one of the earliest diagnosis of [...] omphalocele." IMHO, both 8 and 10 weeks are too early for a confirmed diagnosis. Phoebe |
#3
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Zara wrote:
I went for my first ultrasound last monday, at 8 weeks, and the doctor found out a big mass coming out of the baby's tummy, and they suspect it can be omphalocele. It is more or less as big as the tummy itself. I'm going back at 10 weeks for the second u/s, and if it's still there they'll probably offer to do a CVS. Is there anyone out there that saw this so early, and when did they confirm the diagnosis? And especially, did anyone see this, and then it disappeared and their baby was fine? Hmm...my understanding, which may be out of date, is that it's not really an omphalocele until and unless the intestines fail to go back into the abdomen in the 10-12th weeks--and most of the time they do. Some even go back later than 12-18 weeks. It seems like maybe 10 weeks is a bit on the early side to be rechecking. On the other hand, since omphalocele is associated with a higher risk of chromosomal defects, doing CVS gives you the earliest heads up as to whether something more serious is going on, but it comes at a risk and seeing this mass at 10 weeks isn't necessarily a great indicator that there will be an omphalocele. Bottom line: it's common for something like this seen at 8 weeks to disappear, and it's certainly possible that one detected at 12-18 weeks will disappear (especially if it's not a very large one). Best wishes, Ericka |
#4
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Thanks Phoebe.
The doctor also says we can only wait for now and that the final diagnosis can be done probably aroud 12 weeks. However, I read an article that says that if the mass is larger than 7 mm in diameter, the diagnosis can be made earlier as they have never seen a physiological midgut herniation go away when it's so big (the physiological midgut herniation is the normal part of the embryo development for which the intestines get out of the tummy, rotate and then go back in by 12 weeks). So that's what is really worrying me, that it's so big. Plus, the doctor seemed really concerned. Pleae let me know if there is someone who has seen this and then it disappeared. |
#5
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Zara,
My son, Nathan James, had a giant omphalocele. We discovered it first via the AFP coming back wacky, and then an u/s at 18 weeks. It was as large as his belly, if not slightly larger. The majority of his large intestine, part of his stomach, and part of his liver where inside the omphalocele. We never had an early u/s, so I have no idea if it would have shown up then or not. I have heard of tons of women having early u/s, due to infertility treatments, and have never heard of any of them showing anything that could have been called an omphalocele, even in the early stages. I sincerely hope that the intestines go back inside around the 10-12 week mark, as they are supposed to. The CVS may not give you any details...we did an amnio when we found Nathan's problem, and it came back clean. Although "most" omphaloceles are connected with chromosomal anomalies, not all of them are. In the end, after multiple consultations with various specialists, an echocardiogram, multiple u/s's, and lots of hard thinking, we decided to end the pregnancy at 24 weeks via labor and delivery. Coincidentally, 6 years before we had Nathan, my sister had a baby diagnosed with an omphalocele via u/s. Although the omphalocele seemed pretty big, the baby was otherwise healthy, and my sister decided to continue the pregnancy. When the baby was born, the doctors said that it didn't look as large as they thought. They were able to push everything back into the hole and sew it up, and now my niece Kinsey is 11 years old and has an inch long scar near her belly button. During our ordeal, I talked to my sister a lot, and tried as best I could to "compare" the omphaloceles, to see if there was a chance that Nathan's outcome would be as good. Unfortunately, it seemed that Nathan's omphalocele was larger than Kinsey's, and he also had some heart issues, a possibly curved spine, and some blood pooling in his abdomen, so his prognosis was much worse. Sending hugs your way, and prayers that your baby is okay. -- Jamie Earth Angels: Taylor Marlys, 1/3/03 -- My Big Girl, who goes pee pee and poo poo on the potty! Addison Grace, 9/30/04 -- The Crawler, who is officially crawling and has her first two teeth! Check out the family! -- www.MyFamily.com, User ID: Clarkguest1, Password: Guest Become a member for free - go to Add Member to set up your own User ID and Password "Zara" wrote in message oups.com... I went for my first ultrasound last monday, at 8 weeks, and the doctor found out a big mass coming out of the baby's tummy, and they suspect it can be omphalocele. It is more or less as big as the tummy itself. I'm going back at 10 weeks for the second u/s, and if it's still there they'll probably offer to do a CVS. Is there anyone out there that saw this so early, and when did they confirm the diagnosis? And especially, did anyone see this, and then it disappeared and their baby was fine? Thanks! |
#6
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So... did anybody see this mass at 8 weeks, and their doctor was
worried about it? |
#7
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Zara wrote:
So... did anybody see this mass at 8 weeks, and their doctor was worried about it? Most people aren't having u/s at 8 weeks, so most wouldn't even know. And keep in mind that at 8 weeks, you're talking about only an inch long embryo. U/s can be a marvelous thing, but this is still very early and very small. I know you can't help worrying--I'd be doing the same--but I just don't think you are going to get high quality information for a while yet. You can think about a lot of if-then scenarios, but you just don't have the information yet to know anything with any specificity in your particular situation, and when you add in that not so many women have 8 week u/s, even the collective experience on m.k.p might not be a particularly good barometer. There may even be situations where a mass was detected, but not even mentioned because it was just assumed to be a normal midgut herniation. I noticed that there are some online omphalocele support groups. It might be that among the population of women who've had babies with omphaloceles, some had early u/s and did or didn't find anything suspicious at that time. Here are some things you might find useful: Radiology. 2004 Jul;232(1):191-5. Fetal omphalocele detected early in pregnancy: associated anomalies and outcomes. Blazer S, Zimmer EZ, Gover A, Bronshtein M. Department of Neonatology, Rambam Medical Center and Faculty of Medicine, Technion-Israel Institute of Technology, 8 Ha'Aliyah St, Haifa 35254, Israel. PURPOSE: To detect omphalocele and associated anomalies at ultrasonography (US) early in pregnancy and to describe the outcomes in fetuses with isolated and nonisolated omphalocele. MATERIAL AND METHODS: Fetal endovaginal US was performed in 43,896 pregnant women at 12-16 weeks gestation. The women found to have fetal omphalocele were offered an amniocentesis to determine the fetal karyotype. For parents who decided to continue the pregnancy, repeat targeted transabdominal fetal US was performed at 20-24 weeks gestation. Additional follow-up US examinations performed until delivery were recommended. Postnatal pediatric examinations were performed in all of these fetuses. For the pregnancies in which no anomaly was detected at early US, the women were advised to undergo repeat US at about 24 weeks gestation for the detection of late-manifesting fetal anomalies. For pregnancies in which the baby was not delivered at the authors' affiliated hospital, the woman, her obstetrician, and her pediatrician were asked to inform the authors of any detected anomaly. RESULTS: Omphalocele was visualized at US in 38 fetuses, who were categorized into two groups. One group consisted of 22 (58%) fetuses with associated structural anomalies. According to the karyotype determined for 18 of these fetuses, 11 of them also had chromosomal anomalies. The pregnancy was terminated at the parents' request in 19 of these 22 cases. There were two cases of missed abortion, and a small omphalocele in one fetus disappeared at 21 weeks gestation. The second group consisted of 16 (42%) fetuses with a normal karyotype and an omphalocele as an isolated US finding. In eight of these fetuses, the omphalocele disappeared at 20-24 weeks gestation and no defect was seen at delivery. In six other fetuses, omphalocele was identified at delivery. There was one case each of missed abortion and pregnancy termination. There were no false-negative diagnoses of omphalocele. CONCLUSION: Isolated omphalocele diagnosed during the early stages of gestation typically has a good prognosis. In cases of a small defect, the anomaly may disappear later in the pregnancy. Copyright RSNA, 2004 From http://www.emedicine.com/radio/topic483.htm: "Results of recent ultrasonographic studies suggest that in differentiating between normal physiologic herniation and a concern for omphalocele one should note that physiologic midgut herniation should not exceed 7 mm in diameter and that physiologic herniation should not be apparent in fetuses with a crown-rump length greater than 44 mm." "Physiologic herniation occurs at 10-13 weeks' gestation. The best method for differentiating this from an omphalocele is repeat sonography after 15 weeks' menstrual age. A large defect with liver exteriorized indicates an omphalocele at any gestational age." "When the ratio of the diameter of the omphalocele to the transverse diameter of the abdomen is less than 60%, the lesion usually contains bowel and not liver. The relative size of the omphalocele may decrease during pregnancy." "False Positives/Negatives: An anterior abdominal-wall mass has a wide differential diagnosis. Problems may exist in differentiating between a midline omphalocele and physiologic midgut herniation in early pregnancy and the bowel herniation of gastroschisis." " * One group assessing the accuracy of routine ultrasonography in detecting fetal anterior abdominal-wall defects found a detection rate of 60% with a false-positive rate of 5.3% (Walkinshaw, 1992). o In this study, sonographic examination was performed between 16 and 22 weeks in an unselected population. o Fetuses with gastroschisis were incorrectly assigned as having exomphalos in 14.7% of cases recognized before 22 weeks." |
#8
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Thanks everybody for your support.
I went for another U/S on Monday, and the defect is still there. The doctor said there is still a 30% chance that it'll go away, but to start thinking of what we want to do if it doesn't. She booked me for another U/S in two weeks, and for the CVS the same day, should we want to do that. The CVS has a 1% risk of miscarriage, plus it only gives you some answers about some specific genetic problems that could be associated with the abdominal wall defect, but it doesn't exclude many others. She said they only can be sure of what else (if anything) is wrong by looking at the baby when he's born. DH and I are just so torn right now. |
#9
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Zara,
I'm sorry that it still seems to be there. You and your dh and baby will be in my thoughts and prayers. Whatever you do, you have my support. If you do consider terminating, please check out http://www.aheartbreakingchoice.com/ . There are tons of people there who can help support you. Hugs. -- Jamie Nathan James, AHC, 3/98, giant omphalocele and heart defects 8 other little angels Earth Angels: Taylor Marlys, 1/3/03 -- My Big Girl, who goes pee pee and poo poo on the potty! Addison Grace, 9/30/04 -- The Standing Fool, who climbs to standing every chance she gets! Check out the family! -- www.MyFamily.com, User ID: Clarkguest1, Password: Guest Become a member for free - go to Add Member to set up your own User ID and Password "Zara" wrote in message oups.com... Thanks everybody for your support. I went for another U/S on Monday, and the defect is still there. The doctor said there is still a 30% chance that it'll go away, but to start thinking of what we want to do if it doesn't. She booked me for another U/S in two weeks, and for the CVS the same day, should we want to do that. The CVS has a 1% risk of miscarriage, plus it only gives you some answers about some specific genetic problems that could be associated with the abdominal wall defect, but it doesn't exclude many others. She said they only can be sure of what else (if anything) is wrong by looking at the baby when he's born. DH and I are just so torn right now. |
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