Thursday, September 4, 2014

You Never Think It'll Be Your Baby

One of the most common questions we've heard this pregnancy is, "Everything's OK, right?"

We're not sure people really consider the possible answers when they ask this question.

But everything's OK, right?

No, not really.  We are hoping it will be someday, but that day isn't today.  It won't be in a week, or a month, or even upon delivery.

During the second trimester ultrasound, the technician noticed a physical abnormality of the abdominal wall called an omphalecele.  When internal organs develop in the early weeks of a pregnancy, they do so partially outside of the abdomen.  As the baby grows, the organs return inside the abdomen as muscle and skin tissue grow over, surrounding the umbilical cord.  In some rare cases, (somewhere around 2.5 in 10,000), the muscle and skin tissue do not completely cover the abdomen, leaving some organs in a sac outside of the abdominal cavity.  The size of the omphalocele, the severity of any complications, and the degree of other associated abnormalities is extremely varied, and since they are so rare, there isn't really a "normal" outcome.  Even though the condition is rare, Kaiser (our health care provider) deals with this every year, so at the very least, we feel we are in good hands.

{We encourage you not to Google "omphalocele" or "abdominal wall defect" right away.  Some very scary images come up, and many of them will not be representative of what the baby is experiencing now or likely to experience after birth.  Some good websites that explain what it is with no pictures or cartoon-type pictures are linked blow.}

Based on the measurements from the ultrasound, the doctor told us that, right now, it looks like a small omphalocele of about 1 cm diameter.   They feel it is likely that only a portion of the intestines are outside of the abdomen, covered by a membrane or sac.  This is good news, as a small omphalocele is usually easier to repair than a large one.  If the omphalocele is small enough, soon after birth the baby will have surgery to return the intestines to the abdominal cavity and close the hole.  The baby will stay in the NICU until he/she is able to eat normally.  There is a possibility of digestive issues, and the baby may not be able to eat by mouth right away.  The baby won't be released from the NICU until normal feeding and digesting are happening.

If the omphalocele is large, they would stage procedures to return the organs to the abdominal cavity.  Basically, the abdomen wouldn't be large enough to put everything back right away, so the skin and muscle layers are encouraged to grow over time, and eventually the baby would have a final closure.  This could take a number of months, but the baby might be allowed to go home for some of the time.  Sometimes this staged procedure is called "paint and wait."  Babies with a large omphalocele also often have lung function complications, since the pressure in the abdomen isn't quite right.  Based on the initial images, the doctors think this is a less likely scenario, but it is still possible.

Something to Lighten the Mood: Ultrasound Pics, August 13, 2014

One of the scariest things we learned when we learned of the omphalocele is that the abnormality is often associated with other birth defects.  Estimates vary, but roughly half of babies with omphalocele also have a chromosomal abnormality.  After consulting with various doctors and counselors at Kaiser about the increased risks, we chose to have amniocentesis (amnio) done while we were still at the hospital.  Amnio is scary because of the very slight (1 in 300 to 1 in 500) risk of miscarriage, but we decided that the risks associated with the omphalocele were high enough for us to go ahead with the additional testing.  Everything went well during the amnio procedure (except for Chris getting light headed), but then the waiting game started until we got results back.

Amnio can't check for every possible chromosomal abnormality, but it does provide a karyotype (picture) of the chromosomes which can confirm or rule out some of the most common and serious conditions, including Trisomy 21 (Down syndrome), Trisomy 18, and Trisomy 13.  After a week and a half of painful waiting, we received happy news with the first set of results, confirming the baby has the right number of chromosomes (46).  These results ruled out some of the scarier possibilities that are commonly associated with an omphalocele.

Since this is considered a high-risk pregnancy, we were also offered a more specific array test that looks for major deletions or abnormalities within the chromosomes.  Although this test took much longer (3 weeks of anxiety!), we finally got the best news we could get - no abnormalities found!  This rules out a bunch of conditions we don't know the names of or symptoms for, but we are thrilled.  Like all diagnostic tests, it can't test for everything, but it did test for a lot.  For you science nerds out there, the array test cannot detect genomic imprinting.

One genomic imprinting condition that is often associated with omphalocele is Beckwith-Wiedemann syndrome.  This syndrome is associated with overgrowth of limbs, organs, or as I'm sure many of you have guessed - cancer.  There is such a variety of possible prognoses, that we honestly haven't focused much research on this area.  At upcoming visits, we'll watch for other warning signs that make Beckwith-Wiedemann more or less likely, but with just the ompalocele, we were counseled not to worry about it too much.  After birth, we will be prepared to watch for warning signs, and may have extra check-ups to make sure everything is growing normally.

In addition to the chromosomal conditions, omphalocele is also often linked with other physical birth defects such as heart or spinal defects.  In the ultrasound where they saw the omphalocele, they looked very closely for any other defects and so far they haven't seen anything else.  However, Elizabeth and the baby will be under more frequent supervision to make sure we are aware as soon as possible if any other defects exist or develop.  On the bright side, we will get lots of extra pictures to share!

Speaking of Pictures: Elizabeth and the Beastie at 22 weeks, September 3, 2014

The past few weeks have been a huge roller coaster, and it's been very scary!  We are trying to be both optimistic and practical.  The baby will definitely be in the NICU, but we don't have any idea right now if that will be for a few weeks or many months.  We're already prepping a list of questions for the doctors, and we will try to keep that up to date as we get answers.  Please use the comments on that page if you have a question that we have not listed that you think we should ask.

Kaiser has been awesome so far (except for testing turn-around time - argh!).  It's really convenient having everything in one place, and all the doctors have access to Elizabeth and the baby's records.  This will make it very easy to transition from prenatal, to labor and delivery, to NICU (including pediatric surgeon, who we will meet ahead of time), to pediatrician.

We'll need to figure out our game plan with work, visitors, etc., since things will be different than a typical delivery and newborn phase.  We appreciate your support and patience and will keep you updated as we continue to learn more.


Resources we found helpful:

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