Pediatric Heart Expert Forum
Detection Rates
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Questions in this forum are answered by pediatric cardiologists, cardiothoracic surgeons and anesthesiologists from The Children's Hospital of Philadelphia. This forum is for questions and support about pediatric heart problems, symptoms and topics such as heart murmurs, palpitations, fainting, chest pain, congenital heart defects (including management and intervention), fetal cardiology, adult congenital cardiology, arrhythmias and pre-participation athletic screening.

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Detection Rates

My daughter was diagnosed (6 days old) with a very large VSD, which could also be construed as a single ventricle via echocardiogram. Also found was an av canal, with a hypoplastic aortic arch. Her heart was angled at 90 degrees in her chest. According to my OB, this was not visible in the ultrasound that was performed at 17 weeks gestation. I have a copy of this ultrasound showing the four chamber view of the heart. I have done much research on the detection rates, however research does not really break down into these defects that she had. I am not a professional, but to me it seems clear in the ultrasound that these defects do show, and it also appears that her heart is in the middle of her chest instead of towards the left. Can you give any insight on the probability that these could be missed on ultrasound when they are actually visualized in retrospect?
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773655_tn?1340656399
The preferred time to perform targeted fetal echocardiograms is between 18 and 24 weeks gestation.  That time frame usually gives good imaging windows of the fetal heart.  Earlier gestational ages might have grainy, fuzzy images due to the small size of the heart.  Later in gestation, the images may be shadowed by the ribs and other bones.  That being said, at 17 weeks gestation it would not be impossible to get good images of the heart, especially if you were not very large at the time of imaging.  We routinely inform patients that VSDs may not be appreciated on a fetal echo.  However, if the VSD was so large as to be "construed as a single ventricle" and there was an AV canal defect, then one would likely see that.  The orientation of the heart may be difficult to ascertain easily, depending upon the position of the baby within the uterus, so not seeing mesocardia is understandable.  Imaging of the aortic arch may not be done by all practitioners.  In todays world, the detection rate of serious congenital heart disease is over 85-90% if a good 4 chamber view and the outflow tracts are imaged.  In this case, I think the gestational age may have influenced the interpretation of the images.  
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Also since the ultrasound may have been to "fuzzy" to see would that not warrant a fetal echo while I was still pregnant or maybe a repeat ultrasound?
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773655_tn?1340656399
I cannot say what the quality of the images actually was.  The decision for further testing or imaging is up to the practitioner.
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I really appreciate your time. I must explain to you that I needed this information just to ease my mind. My daughter passed away when she was six days old. According to the "experts" this should have been deteced on ultrasound. However malpractice is a slippery slope. I understand doctors are human. We all make mistakes. But unfortunately this mistake contributed to my daughters death. Thank you so kindly doctor as now I can move forward in my own healing process.
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Jeffrey R Boris, M.D.Blank
The Children’s Hospital of Philadelphia
Philadelphia, PA
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