Miscarriage/Pregnancy Loss

Experiences Involving Hygroma, Hydrops, Arthrogryposis, Lethal Multiple Pterygium Syndrome

This write up of experiences involving hygroma, hydrops, arthrogryposis, lethal multiple pterygium syndrome and termination is lengthy but intended to assist other parents in dealing with these issues and hopefully provide some constructive data. You can expect to see this post on multiple forums of this type to ensure I've reached all those concerned.  I'll start by saying I'm the dad which may not be common on these forums.

My wife and I have one healthy daughter born in 2014.  This pregnancy was uneventful with no issues or complications.  We started trying again in 2016 (wife's age 38) and had two fairly early miscarriages (what I'll call #1 & #2), both at 9.5 weeks as measured, and discovered around the 11 week mark.  Cause for these is unknown, though assumptions can be made from what followed.

Pregnancy #3: The third pregnancy showed signs at the 9 week point of a hygroma behind the head.  Due to my wife's age and history we were seen by a high risk doctor with an advanced ultrasound. The hygroma was larger at 12 weeks and discussions started with the doctor on outcome.  Our doctor advised that many infants are diagnosed with a hygroma, however if there's to be a favorable outcome the size needed to decrease by the 20 week point. At 14 weeks the hygroma on our baby had increased in size and the doctor diagnosed hydrops (retention of fluid).  Again, the advice was these symptoms should decrease upon the next couple of visits if there was to be a favorable outcome. At the 18 week ultrasound the hygroma was again larger and the hydrops more pronounced. We elected to have an amniocentesis performed to gather more information.  Further we were told the baby looked to have arthrogryposis because the arms and hands were always tucked & curved downward (like a t-rex). Throughout the process the doctor remained hopeful, however we could tell that he wasn't optimistic. He advised if the hydrops/hygroma lead to a fatal result pre-term then it would likely occur between 30-35 weeks.  Here's where the situation starts to get very tough. Termination of a baby isn't something we would normally consider, but all of a sudden we were faced with this question. The subject wasn't anything we'd ever researched or given any thought to. Upon researching we learned that any termination after 21 weeks in our state was illegal. This meant we had to rush our decision or decide to go out of state should the prognosis continue to be bad.  Worse yet, the amnio results stated they could take up to 3 weeks for return (they took longer). At the 20 week visit with the hygroma again bigger and the hydrops more pronounced, we pinned the doctor down on a no BS prognosis. Of course he wouldn't commit but said in his 30+ years of practice he had never seen a baby survive to term with these conditions. After very long discussions going against our ethics we decided termination would be the best thing for mother and baby.  We decided shooting for that miracle in this case wasn't realistic.

in our state terminations aren't done in hospitals because they're all religious based, so it had to be done at a clinic.  The doctor performing 20+ week terminations was only there once per month and happened to be available the same week. Now if you'd asked me 2 months earlier if a state regulation limiting terminations past 20 weeks should be enacted I would have told you, sure it sounds reasonable enough.  Only now this state law caused us to rush this decision, still having no amnio results. We asked if there was an exception for a fatal diagnosis, no is the answer. Insurance doesn't pay for terminations except in cases where the mother's health is in immediate danger, it wasn't. So $2,500 is the cash price for a 21 week termination.  In looking at the clientele in a clinic like this I don't want to sound arrogant and say we were better than these people, but we were better than these people. On the way in we had to cross through protesters calling us murderers. While my wife was visibly upset we sat amongst people laughing, joking and watching videos on you tube. Since my wife was visibly upset the counselors at the clinic questioned if she was a candidate for termination and it took convincing of a medical diagnosis.  A 21 week termination is a two day process, day 1 rods are inserted to expand the cervix, and day two is the actual removal. Since I was the man, and apparently evil, I had to wait outside the whole time. The amnio results came back negative for any of the most commonly tested for genetic disorders.  

Pregnancy #4:  I'll try to keep this shorter however the result is the same; hygroma and hydrops present by 12 weeks, increasingly worse at 16-18 weeks and accompanied by possible arthrogryposis in the legs this time.  An amnio was performed around 16 weeks. We decided to terminate again shortly after the 18 week appointment. Same amnio results (nothing for most common), same clinic, same protesters, same counselors, another $2,500.  Upon speaking with a genetic counselor at the doctor's office she recommended more advanced genetic tests to determine cause. After many discussions with our insurance company we were approved for a very detailed genetic test costing over $7,000  (cells were grown from the previous amniotic fluid sample). While it couldn't help us with this lost baby it hopefully would shed some light on future attempts. And it did, my wife and I are both carriers for lethal multiple pterygium syndrome, which displays as  hydrops, arthrogryposis & hygroma. This disorder is fairly rare and crazier still that we're both carriers for it. Being faced with this information we were both happy and upset. Happy because it was only a 1 in 4 chance of the gene being dominant, but upset the same situation could present itself; and let me tell you we wanted no part of that damn clinic scenario again.  

Pregnancy #5:  Since we now had a cause we determined if this issue could be identified early on we wanted to know so decisions could be made.  If a genetic cause is known a direct test can be done, which means amnio fluid is directly tested for that particular gene. At 12 weeks, which is the earliest an amnio can be performed, we elected for the procedure.  AND...the needle caused the sac to rupture and my wife's water broke at 12 weeks. Complications from an amnio according to the doctor are only 1%. As you can imagine after the genetic results and now this we were thinking of getting a lottery ticket.  My wife was placed on permanent bed rest for a few weeks in the hopes the sac would seal itself and the fluid would be regained. The fluid didn't return for several weeks and we kept getting the wait and see prognosis. Finally fluid started to return around 16 weeks and she was put on modified bed rest.  Of course now we're concerned about complications and developmental issues with having a lack of fluid for so long. Another gut punch comes shortly thereafter; the genetic test is fine, this baby doesn't have the genetic issue nor exhibits any symptoms. At this point it's great news but we're upset with ourselves for doing an amnio so early.  I won't hold the suspense any longer, we have a healthy baby girl that was born last month. She's perfect. The ironic thing was there was too much amniotic fluid towards the end of the pregnancy (which is a risk for stillbirth) so my wife was induced 11 days early. I guess everything went into fluid production overdrive after the earlier incident.  Zero complications and a natural birth.

We’re very thankful to have access to the high risk doctor with the fancy ultrasound.  It’s possible without that benefit we wouldn’t have known nearly as much. Something we were reminded of every time we went to the “regular” OB and looked at the blurry, fuzzy screen.  If issues are suspect parents should insist on seeing a high risk doctor with better ultrasound capability.

All of this happened over a span of only 2 years so  all I can say is I'm thankful we didn't have any issues getting pregnant.  My second daughter was born just prior to my wife's 40th birthday and at this point I think we're done!

We don't know the cause of the first two miscarriages, perhaps they were due to this disorder or coincidental.  We'll never know. The gender of #2, 3, & 4 (#1 unknown) were male and the genetic counselor agrees this likely had something to do with how the genetic puzzle pieces went together.  In theory it shouldn't matter what the gender was, it should be a 1 in 4 chance of dominance regardless, but so much still isn't known about genetic makeups. I won't pretend to know anything more over what was taught in Biology 101.  I'll also state that anything I've said above about medical procedures, timelines, symptoms or any other aspect is what we were told and experienced, I'm not a medical professional. If something is incorrect I'll go ahead and say you're probably right!  

I really hate to bring up politics but I’ll just say whatever your opinions on abortion, please don’t forget it’s not always black and white when considering laws and regulations.  

I hope that parents in the same situation can take something away from these experiences.  If anyone has any questions about these symptoms, disorders, or procedures I'm happy to answer based on what we've learned.  Best wishes.

Below is an excerpt on lethal multiple pterygium syndrome to save a google search:

"Lethal multiple pterygium syndrome has many of the same signs and symptoms as the Escobar type. In addition, affected fetuses may develop a buildup of excess fluid in the body (hydrops fetalis) or a fluid-filled sac typically found on the back of the neck (cystic hygroma). Individuals with this type have severe arthrogryposis. Lethal multiple pterygium syndrome is associated with abnormalities such as underdevelopment (hypoplasia) of the heart, lung, or brain; twisting of the intestines (intestinal malrotation); kidney abnormalities; an opening in the roof of the mouth); and an unusually small head size. Affected individuals may also develop a hole in the muscle that separates the abdomen from the chest cavity. Lethal multiple pterygium syndrome is typically fatal in the second or third trimester of pregnancy.”

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