Gastroschisis

In Week 13 of my pregnancy, Lucy was diagnosed with gastroschisis.  Here are some quick answers to FAQs about where we've been and where we're going.  

What is gastroschisis?

Image courtesy of Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental Disabilities.

Gastroschisis is a congenital birth defect of the abdominal wall.  It develops very early in pregnancy (around Week 10) when the abdominal wall doesn’t fold over completely, leaving a hole in the belly that is usually to the right of the umbilical cord.  The baby’s intestines and sometimes other organs, such as the stomach and liver, stick outside the baby’s body through the hole.  Unlike other abdominal wall defects, gastroschisis is not believed to be genetic.  It’s almost always an isolated occurrence and is rarely associated with other anomalies.

 How rare is gastroschisis?

The statistics vary depending on where you look.  I’ve seen everything from 1 in 10,000 births to 1 in 2,000 births.  The Centers for Disease Control and Prevention (CDC) estimates that about 1,871 gastro babies are born each year in the United States.  Based on 2011’s birth rate, that is about 1 in 2,000 births.  Our hospital, CPMC, sees up to 10 cases per year, while UCSF sees about 20 cases per year.  So, while rare, gastroschisis is not unheard of, and the course of treatment is well established.

What causes gastroschisis?

The cause of gastroschisis is unknown.  There is a correlation with young maternal age (teens and early 20s).  There is also a correlation with mothers who smoke during pregnancy.  Neither of these applied to me, so the cause of Lucy's gastroschisis remains a mystery to us.  Several recent studies have shown a link to atrazine, a pesticide that can sometimes be found in drinking water.  One thing that is known is that the prevalence of gastroschisis is significantly increasing worldwide.  It is one of the few birth defects that is one the rise rather than the decline. 

How is gastroschisis treated?  What is the prognosis?

Gastro babies are treated immediately after birth and spend the first few weeks of their lives in the Neonatal Intensive Care Unit (NICU).  The average stay is 6-8-weeks.  In very rare, worst-case scenarios, additional complications can result in hospital stays of several months.  Lucy spent 4.5 weeks at CPMC in San Francisco.  She ended up being one of the best-case outcomes and had no major setbacks.

Some gastro babies with a small amount of intestine sticking out can receive “primary closure” surgery to put the intestines back inside the body as soon as they’re born.  However, most gastro babies (including Lucy) have too much sticking outside to be candidates for primary closure.  For these babies, the intestines and any other organs outside the body are placed in a silo that hangs above the body.  This allows the organs to fall back into the body gradually.  Allowing gravity to do the work is a lot easier on the baby’s body than stuffing everything back in at once.  The silo is like a tube of toothpaste, and each day they squeeze the tube a little more to help guide everything inside.  It usually takes about a week to get everything back into the abdominal cavity.  At that point, the baby either undergoes surgery to close the hole, or they allow the hole to close on its own (“sutureless closure”).  We were blessed to be in the hands of a very skilled team of pediatric surgeons from the Lucile Packard Children’s Hospital at Stanford, which contracts with CPMC.  They are pioneers of sutureless closure and have been getting great results from this method over the past several years.  Apparently the baby’s skin wants to close on its own, and allowing it to do so results in less scarring and a more normal looking belly button.  More importantly, the baby doesn’t have to undergo surgery, anesthesia, etc.  Lucy turned out to be an excellent candidate for sutureless closure and never once had to go under the knife.  

After the "defect" is closed, the hard work begins: eating and pooping!  Up to this point, the baby is fed through a central feeding line and waste products are removed via a repogle tube that goes through the nose or mouth to the stomach.  The neonatologists at the NICU start by introducing small amounts of breast milk (approx. 2 mls).  Then they wait for poop.  If all goes well they gradually increase the feeding amounts until the baby is able to breastfeed.  This is typically the longest part of the recovery process since it can take a while for the intestines to start functioning properly.  Oftentimes the baby will vomit bile, indicating that the stomach contents are not making it through the intestine, and you have to start all over again. When the baby can take a full bottle and poop, she can go home.  Lucy began feeds in her second week of life and, miraculously, never had any issues digesting milk.  Once home, we were able to successfully breastfeed until she was about 9 months old.   

The overall prognosis for gastroschisis is very good.  The survival rate is generally thought to be over 90%.  The majority of gastro babies go on to lead normal lives without any serious complications.  Sometimes they can have reflux and feeding issues, and in rare cases, intestinal malrotation.  Fortunately for us, Lucy has never had any of these problems.

How did you deliver?

Gastroschisis babies do not have to be born via C-section unless complications arise that would cause anyone to have a C-section.  However, Lucy was breech, which necessitated a C-section for us.  There were about 8-10 people in the OR when she was born.  First, they placed her in a sterile bag up to her armpits to protect the organs and reduce the risk of infection.   Then they rolled her isolette over to me so that I could meet her and touch her hand before they transported her down the hall to the NICU and set her up with a silo.

How is Lucy now?  

Lucy is 100% healthy and has never had any subsequent complications related to her gastroschisis.  She eats, drinks, and poops like a normal kid.  She has no dietary restrictions and LOVES to eat.  She has a "special spot" where her closure healed that looks similar to an outtie belly button.  She is also on the small side for her age (around the 20th percentile at age 1), which is typical for gastro kids.