We had our big anatomy ultrasound last Friday and this week our healthcare provider called to let us know that they found a intracardiac echogenic focus or IEF on the baby's heart. After a Google search I discovered that an IEF is a mineral deposit, typically a calcium deposit, and that it shows up as a bright white spot on the heart during an ultrasound. Finding an IEF is relatively common, occurring in 3-5% of pregnancies, and usually resolves on it's own prior to birth. However, the presence of an IEF has been statistically linked with a higher incidence of trisomy 13 and trisomy 21.
Trisomy 21, is familiar to many and is colloquially known as Down Syndrome. Prior to birth it is difficult to predict the symptoms of a Down's child. However, children born with this chromosomal abnormality typically have an average IQ of 50, stunted growth, and many have complex heart defects. Trisomy 13 or Patatu's syndrome is less well known, probably because 80% of infants with this syndrome are either still born or die within the first few months of life. Surviving children, often have severe neurological problems and/or very complex physical defects which require high levels of medical care.
During my last visit with my healthcare provider I requested and received second trimester screening (a quad screen). This test measures a fetal liver protein called alpha feto protein. This is a marker for several possible birth defects as well as trisomy 21. In neural tube defects, the level is often higher because the skin of the fetus is not intact and therefore more of the protein leaks out into the amniotic sack. While in trisomy 21, the level is often lower that average because the yolk sac and fetus are smaller than usual. Anyway, the way this works is that my level of alpha feto protein, estradol, and HCG are compared against levels found in average healthy pregnancies and the risk factor for trisomy 21 is calculated. This calculated risk is linked to trisomy 21 detection in 80% of cases. My levels came back within normal range which means that as a 32 year old female I have a 1/725 chance of having an infant with trisomy 21. However, the IEF indicates a four fold increase in my risk.
Therefore, my healthcare provider recommended that I receive a detailed anatomic survey to look for other ultrasound markers and did not recommend an amnio at this time. The problem is my appointment isn't for another two weeks at which time I will be 21 week pregnant. Amniocentesis is typically done between 16 and 20 weeks gestation because of the increased risk of preterm labor and fetal harm. In addition, it takes two weeks to get back the results of an amnio which would put me at 23 weeks. Meaning, I would have less than a week to make a decision about termination.
No parent wants to hear that there is a possibility (however unlikely) that their child will not be born healthy. And after working at Kennedy Krieger I am more than aware that raising a special needs child takes a huge amount of emotional and financial resources. For these reasons, I am reeling from the identification of this IEF. M and I have discussed it but are still unsure as to what the right move is. Should we press for an amnio (the only definitive test) despite the risks? Should we wait for the results of the more detailed ultrasound? The 'right thing to do' is ambiguous from both a medical and ethical perspective.
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