Child born 2/22/19. For the New York State Newborn Screening his birthweight is erroneously reported as 1751 grams. He was actually 3952 grams. His CAH (congenital adrenal hyperplasia) score is reported as "less than 35ng/mL, and therefore normal. The Health Care Provider Manual from the Newborn Screening Program, in paragraph 14 states "The infant's birth weight is crucial to correctly interpret the screening results. Weight differences may determine whether a result will be classified as normal or abnormal." On 3/6/20, at one year of age, the Pediatrician diagnosed "Developmental disorder of speech and language, unspecified." On 9/10/21 he notes "I have concerns regarding Pervasive Disorder." On 11/8/21 he writes "Delayed milestone in childhood. Does not speak." On 1/18/22, at 23 moths of age, blood work is done and the diagnosis of hypothyroidism is made. The TSH is 8.290 ulU/mL, with the normal range being 0.940-4.963.
Question: Was the erroneous reporting of the birthweight a departure and if so did it likely contribute to this child's injury because of a delay in treatment?
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No questions yet!
Do you believe there might have been medical error?
Although the weight was reported erroneously, most babies born with CAH will have a very elevated 17-OH progesterone level, oftentimes in the 1000s. I do not feel that CAH contributed to developmental delay. Babies with CAH will often be very sick and will have electrolyte abnormalities like low sodium and high potassium.
Do you believe there might have been causation (i.e. the medical error resulted in an injury)?
Although the birth weight was recorded erroneously, this wouldn’t affect the results of the test for hypothyroidism. A TSH of 8.290 is normal for a 23 month child as children have different normal levels than adults. Most children with true congenital hypothyroidism have TSH levels in the 100s. I don’t think hypothyroidism is causing developmental delay.
What makes you a good expert for this case?
I am a board certified pediatric endocrinologist and specialize in newborn screenings.
How often do you encounter cases similar to this one in your practice?
Very often. I constantly review newborn screen results and discuss them with the state.
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