Genetic counseling: Gastroschisis

Gastroschisis

Introductions

 * How are you doing/ how's the pregnancy going?
 * How far along are you?

Contracting

 * We want to explain what this finding means for your baby and your pregnancy
 * Ask a few questions about your pregnancy and family history

Tell me a little about how the pregnancy has been going

 * Any infections?
 * Cigarette use?

Gastroschisis

 * What have you been told? I know that it was recently diagnosed
 * The basics
 * A hole through which the baby's intestines are outside of the body
 * Do you want to see a picture of what it will look like? -
 * Cause
 * Usually gastroschisis is isolated and there are NO other abnormalities
 * believed to be related to the improper regression of the arteries/veins involved in the umbilical cord.
 * Basically during development, the baby has to go through a lot of changes as it grows. Connected to the mom through the yolk which becomes the umbilical cord. The yolk sac is the biggest thing until the baby starts to grow = the baby folds up and the umbilical cord becomes smaller. As these changes occur the baby's body folds across it's tummy around the umbilical cord.
 * Other things possibly associated with gastros. - work most of these in through the management plans
 * 12.5% risk of stillbirth (usually late in third trimester)
 * 20-40% other gastrointestinal disruptions (including malrotation, atresia, volvulus(twisting of the intestine causing blockage), infarction(lack of blood flow)
 * 77% have IUGR
 * 1/3 preterm labor - usually because of polyhydramnios
 * 0-8% have cardiovascular malformations (VERY RARE)
 * NOT associated with chromosomal abnormalities (previous studies have shown 1/128 cases of gastroschisis had chromosomal abnormality (trisomy 18) 0/57 cases had chromosomal abn. THEREFORE: quote maternal age risks for risk of aneuploidy. QUOTE 1% risk
 * Management during pregnancy
 * ultrasounds to monitor the status of the bowel
 * biophysical tests starting at 30 weeks to monitor the status of the baby
 * nonstress test - the belt around the mom's belly to make sure the baby is "happy".
 * measures the amnioic fluid level and the baby's growth
 * echo to monitor heart??
 * plans for induction/C-Section (always C-section at Good Sam)
 * offering of amniocentesis (insert outline)
 * explain genes and chromosomes
 * common chromosomal abnormalities
 * Treatment
 * surgery (2 types)
 * Primary closure (70%) - requires one time surgery. Reduced hospital stay, faster recovery to oral feeds. Ability depends on how much area is affected. Hospital stay usually 7-14 days.
 * Silo creation - the placement of a mechanism that allows for gradual return of the intestines to their appropriate location. Takes 3-5 days to finish. Requires a second surgery to remove the silo. May remain in hospital for weeks.
 * What can happen after birth
 * Risk of death from complications (91% survival rate) prematurity, sepsis(infection by an organism or toxin), bowel ischemia
 * Postoperative infections (intestinal dysfunction, intestinal ischemia (anemia due to blood restriction), bowel infarction, necrotizing enterocolitis (death of the cells of the membrane of distal portion of the intestine)
 * Delayed feeding issues (can't take food orally - usually short term, sometimes indefinitely)
 * Possible recurrent bowel obstructions - watch the feeding/bowel movements closely
 * Possible esophageal reflux
 * Hydronephrosis (swelling of kidney due to blockage) and urinary tract abnormalities (4/12 in a recent study)

Recurrence issues

 * Gastroschisis is usually sporadic and there is a very low recurrence chance
 * A study has shown 4.5% recurrence risk for siblings in families based on general pop. studies
 * 6 families have been identified to have the condition in an AD pattern
 * Next pregnancies we will monitor with ultrasounds.

Psychosocial issues throughout

 * Plans for this baby - not what you expected
 * Difficulty feeding
 * Surgery and hospitalization immediately following birth
 * Insurance issues?
 * Family support?
 * Coping style?