Multiple Pterygium Syndrome - A Rare Cause of Recurrent Pregnancy Loss
Friday, September 28, 2007
Kenneth F. Trofatter, Jr., MD, PhD
Posted by to Fruit of the Womb at Tue Sep 18, 02:37:00 PM 2007
Hi,
My name is Nikky. I am 31 years old. I am currently 4 weeks pregnant for the 5th time. My first, third, and fourth pregnancies were ended due to the babies having multiple pterygium syndrome. It really surprised the doctors that this rare genetic syndrome has happened three times to me. The first baby was lost at 22 weeks, the third at 20 weeks, and the fourth at 19 weeks. I have a healthy 3 year old daughter (second pregnancy). Do you know if there are any ways to prevent this from happening in this pregnancy? Since we are the ones that educate the doctors about this, we are kind of stuck with just going for weekly ultrasounds until we notice the fetal abnormalities and lack of fetal movement. I am taking prenatal vitamins, 4 mg of folic acid, and vitamins B6 and B12. I also get a CVS (chorionic villus sampling) done at 11wks, but this cannot catch this abnormality. Do you think there are any tests to detect this? We were told that this syndrome can be found early second trimester or even in the third trimester. I just want to have a normal pregnancy. Thanks.
Hi Nikky. Thanks for writing and for sharing your story. Multiple pterygium syndromes (MPS) comprise a group of disorders characterized by multiple congenital anomalies typified by pterygia (webbing) of the neck, elbows, and knees and associated with limited fetal movement and joint contractures (fetal akinesia - arthrogryposis sequence), and many other abnormalities. MPS have been traditionally divided into lethal and nonlethal (Escobar) types. The lethal forms of the condition frequently exhibit facial clefting, intracranial abnormalities, large cystic hygromas, progressive fetal edema (hydrops) and death by midgestation and, as in your case, they have been found to be a rare cause of recurrent midtrimester pregnancy losses (Lockwood, et al., Am J Obstet Gynecol. 1988;159:474-6).
The inheritance of MPS appears to be variable, but the lethal form described by your history is most likely the result of either autosomal recessive inheritance or X-linked recessive inheritance. If the inheritance in your situation is autosomal recessive, that means that both you and your husband each carry one dose of the ‘bad gene’ (I am presuming neither one of you, nor your daughter, have characteristics of MPS) and 25% of your children (male and female) would be entirely normal genetically, 50% would be unaffected carriers, and 25% would develop the lethal condition and die prenatally.
If, on the other hand, the inheritance is X-linked recessive, then you must be the unaffected carrier (because your husband could not have the mutation or he would not be alive) and 50% of your daughters would be genetically normal, 50% would be carriers, 50% of your sons would be genetically normal, and 50% of your sons would die in utero. Sons who have the 'bad gene' on their X-chromosome cannot live and the genetically normal sons will not pass the ‘bad gene’ on to any of their children. Incidentally, if any of the children you lost were daughters, then you and your husband must have the autosomal recessive type of inheritance pattern detailed in the paragraph above.
So, to answer one of your questions, regardless of the inheritance, since this is a genetic problem, there is no way you can prevent it from happening. You just have to take your chances each time you get pregnant. But, the lethal forms of this condition can also often be detected earlier in pregnancy than 20 weeks in families known to carry the genetic mutation, thereby allowing them to make decisions about whether or not they continue to carry the pregnancy until the baby dies. The lethal condition is frequently associated with large septated cystic hygromas, or widened ‘nuchal translucencies’, frequently appearing to completely surround the body and in some cases the limbs, that may be visualized by ultrasound in late first trimester. Potentially, many of the other major physical abnormalities (such as diaphragmatic hernias, scoliosis, intracranial malformations, short forearms, and facial clefting), variably associated with the lethal syndrome, and hydrops fetalis may also be present well before 20 weeks.
You correctly point out that CVS cannot readily detect MPS because it is not a chromosomal abnormality per se, it is a genetic defect. Recent studies have shown that in a least some cases of MPS specific genetic defects have been identified as “germline-inactivating mutations in the embryonal acetylcholine receptor gamma subunit (CHRNG) in families with both lethal and nonlethal MPS” and have actually been mapped to the short arm of chromosome 2(2q36-37) (Morgan, et al., Am J Hum Genet. 2006;79:390-5). This finding does open up the possibility of earlier diagnosis by CVS and, possibly, even preimplantation genetic diagnosis, and with that is the potential for some form of interventive therapy.
In view of this information, Nikky, I suggest you review your history with a genetic counselor to find out if diagnosis of the condition can be established in your case on fetal tissues early in the pregnancy at some laboratory somewhere in the world - perhaps the one that did the study cited above! Again, thank you for reading and for sharing your situation with us. Best wishes for you and your family in the future.
Dr T
Labels: cystic hygroma, muliple pterygium syndrome, recurrent pregnancy loss
20 Comments:
At Wed Nov 28, 08:38:00 PM 2007,
Anonymous said…
Hi Nikki. I am so sorry for the loss of your previous pregnancies. Unfortunately, my husband and I have also suffered the loss of a son born with MPS six years ago. I have one daughter from a previous relationship, and one son that we concieved with the help of a sperm donor (this was the safest option for us). I try to stay up to date with the research done on MPS, but I am sure you are aware of the lack of information out there. From what I have gathered lately, they have not "found" the gene, therefore cannot specifically test for the syndrome. My husband and I opted to seek a sperm donor because I have one healthy daughter from a previous relationship, and he has no other biological children. My son lived for three months, but could not come home because of the his intense medical needs. I don't know where you are located, but I do know that staying in contact with a geneticist helps to keep you connected to the research being done on this rare syndrome. Best of luck to you and your husband...my name is also Nicky.
At Sun Dec 02, 08:07:00 AM 2007,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Nicky Nov 28: Thank you so much for sharing your story with us. It helps others who have and may go through what you have experienced to know that they are not alone. I wish more of our readers would provide us with this sort of feedback. It helps to share. Thanks for reading. Dr T
At Sat Jan 19, 04:22:00 PM 2008,
renee said…
Hi Nikki,
I too have had to terminate 3 pregnancies due to mps. Two were boys and the third was a girl. We do not have any children. We were told out best bet is a sperm donor, and we are going to start that process. It is so hard for both my husband and I because when you marry you never think these things will happen, and now I will have to pick out a donor for our baby. I hate that idea just because I want my husband's child, but i can not go thru the three months of waiting for mps to be diagnosed. We have spoken to geneticists and they all tell us there is a 25% chance that it will happen each time I get pregnant, unfortunately it had happened three times in a row and my mind and heart are at their breaking point.Emotionally i could not handle it if it happened again. I wish you all the best with your current pregnancy. I know haow hard this situation is. Best of luck
Renee
At Wed Jan 23, 06:14:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Renee: Jan 19: Thank you for your comment. Other readers will appreciate you willingness to share what you have been through. regards, Dr T.
At Sun Mar 23, 02:50:00 PM 2008,
Anonymous said…
They have found the gene where the mutation occurs to create the Multiple pterygium Syndrome. Or at least they have for our 2 children that are effected with the Escobar variant of the disease. According to the Molecular Neurosciences Group at Oxford, "The AChR gamma subunit gene (CHRNG) by PCR & DNA sequencing & detected a change in exon 5 of this gene. A single nucleotide insertion at position 392 in the gene (c392insA).
At Wed Mar 26, 07:13:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Anonymous Mar 23: Thank you for the information! Other readers will appreciate it as well.
Dr T
At Sat Apr 12, 08:53:00 AM 2008,
Andrea said…
Hi, I just wanted to share my story. In 2004 at my 20 week scan I was told my baby had Lethal Multiple Pterygium syndrome. She was born on 30th May 2004 at 21+6 weeks. I was 19 years old & this was my 1st pregnancy. I fell pregnant again 6 weeks later & now have a healthy 3 year old girl. Post Mortem confirmed my baby girl had MPS & we had genetic councelling. I was also told we have a 25% chance of this reoccuring. There is no history of this in our families so we are unsure if we carry the gene or if this was a 1 in a million thing.
Thank you to everyone for sharing you experiences, it's nice to know I'm not the only one out there.
Andrea
At Tue Apr 15, 07:08:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Andrea: Thank YOU for sharing and best wishes for the future! Dr T
At Sun May 25, 12:42:00 PM 2008,
Stella said…
Hi, I also want to share my story. My daughter was born in December of 1992. We are from a small town in Southwest Kansas. Nobody knew what was wrong with her, other than she couldn't bend her knees and she had some webbing present. It wasn't until her 10th birthday that a genetecist at the Children's Hospital in Denver diagnosed her with MPS. She's 15 now and will be a freshman in High School. After reading your stories, I was shocked that we didn't know anything about her condition for 10 years. She's doing well. She has limited mobility, she can't run but gets around ok. Thank you for letting me share my story.
Stella
At Tue May 27, 06:08:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
Stella: Thank you for writing and sharing. It is hard to believe you had to wait 10 years for a diagnosis, but sometimes it's hard for folks to see the forest through the trees. Best wishes! Dr T
At Tue Dec 09, 05:40:00 PM 2008,
vonzella said…
hi, sorry for your loss.. i lost my daughter to this in 1988..she was 4 months old .i wanted to know if there is any where i could go to find out more about this syndrome?
At Mon Dec 22, 09:47:00 PM 2008,
Deborah said…
I know this is an older message but I wanted to share my story as well. When I was 16 weeks pregnant with my first son we were told he had fetal hydrops. We went through weekly ultrasounds and tests and couldn't find the cause. We were told to not expect anything because he probably wouldn't make it. He is six now and 3 years ago he was diagnosed with MPS also the escobar type. We found out when I was already pregnant with my second which turned out a healthy baby. Just wanted you guys to know that I can relate. Although Elijah survived he has faced many challenges. We were also told that in future pregnancies we have a 25 percent chance of having another child with MPS.
At Mon Feb 16, 09:56:00 PM 2009,
Half-Pint said…
I'm so glad to have found this page. We lost our baby boy two weeks ago with what our geneticst is 99% sure is lethal MPS. He was born at 32 weeks and lived (on a ventilator) for 2 weeks until we disconnected him. A lab in Germany is analyzing his DNA to determine if it is in fact MPS, so I know there is a lab that has a gene probe for MPS in Germany, does anyone know if there is a lab in the US with a probe? (We live in San Francisco.) We want to try to have our own biological children, and are prepared to rely on CVS, but may eventually turn to Pre-Implantation Genetic Diagnosis. Is PGD possible in this situation? Thanks so much for your help.
At Wed Apr 08, 04:02:00 PM 2009,
carolynne said…
Hi Nikki
I had a son who was born still born and had LMPS. There is a doctor who is well versed in this Dr. Chen who actually published on this recently.
I have been in contact with him for each of my pregnancies. My first born a boy, they did studies on him (biopsies, bloodwork, etc).
For my second and third pregnancies, I did has dr. chen said and increased my folic acid before getting pregnant. That was a suggestion. I have a healthy son and daughter.
We will eventually try for another baby (even with the 1 in 4 chance of the baby having the disorder again).
I have seen the pictures Dr Chen had and there are boys who are born with the disorder.
If you want more information, Dr Chen is with LSU. During my pregnancy, they did ultrasounds (3d) and did the test where they measure the neck fold. As this is a good indicator.
If you want to talk, you can contact me as well. c a r o l y n n e @ a o l . com.
At Tue Apr 28, 04:02:00 AM 2009,
Anonymous said…
Hi All, Another similar story. My ex-wife and I also had all of our three pregnancies fail and diagnosed as MPS in the late 1990s. At that stage there was limited internet content and information and we seemed to be the only ones in the world. Each of us had siblings with children and it was difficult with so many neices and nephews to not be able to have success ourselves. Ultimately we divorced (not due to our procreating difficulties), each re-married. I now have two healthy children. Best of luck to all in a similar situation.
At Sun May 24, 08:40:00 AM 2009,
The Rills said…
Hi my name is Sharon. Thanks to all who have shared their stories. I bit less than six months ago my husband and I were faced with the terrible decision of whether to terminate our pregnancy with our first baby (girl). The doctor's suspected MPS and informed us of the implications. We chose to terminate at 24 weeks after her symptoms had worsened and hydrops had set in.
Just this week we went in for our first trimester screening for our second baby and the cystic hygroma and lack of movement were again present. We are beginning to feel hopeless about our chances of having a healthy and viable child.
I don't know if I am strong enough to keep trying, but I really want to have children with my husband as I'm sure is the case for most women. The postings here have given me hope and a lot of good information. Thank you again for sharing!
At Wed Jul 29, 06:00:00 AM 2009,
Anthony said…
I have 3 healthy children but lost my first baby to multiple pterygium at 16 weeks. There has been no history of this in our families as far as I know. Is there a likelihood at att of any of my 3 children having this gene. They are 22, 20 and 18 now.
At Sat Aug 01, 06:14:00 PM 2009,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Anthony July 28: They could carry the gene, but most likely in the autosomal recessive form that does not affect themselves. To put a baby at risk they would have to have a mate who also carried this gene (and the chances are rare) and even then they would only have a 1 in 4 risk of having an affected child. Regards,
Dr T
At Mon Sep 21, 04:16:00 PM 2009,
Anonymous said…
My husband and I have also had to go through the terrible nightmare of having to terminate 2 pregnancies due to mps - twin boys and a girl. We were also told that there was a 25% chance of it happening again. Our geneticists told us that we could perhaps consider Pre-Implantation Genetic Diagnosis - we were told that they had to find the defective gene in the first place for this to be viable and its like finding a needle in a haystack - tests were done on previous babies but they could not find the defective gene -the mutation did not occur on any genes previously reported. They confirmed that probably our best chance would be a sperm donor. Having decided that really wasn't for us we decided to try one more time and thankfully we are now blessed with a healthy and very lively 6 month old baby girl. It has been an awful couple of years for us but I wanted to let others know that there is still hope even in this situation.
At Tue Sep 29, 07:50:00 AM 2009,
Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous Sept 21: Thank you for sharing your story. It is a terrible thing to go through, but in the end the normal baby will make it all worth while. Best wishes to you.
Dr T
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