Context
Early treatment is essential to avoid the cardiac complication of Neonatal hyperthyroidism (NH). Our results have direct implications for clinical care.
Objective
NH can cause potentially fatal neonatal thyrotoxicosis. Here, we evaluated the feasibility of neonatal hyperthyroidism screening using the thyroid-stimulating hormone value in dried blood collected routinely on filter paper on the third postnatal day of life for congenital hypothyroidism screening.
Design
Retrospective case-control
Methods
Cases were identified using data from our previously published study of 280,000 infants born in ten maternity units in France in 2007-2014. Controls were identified among the 1,362,564 infants born in the Ile-de-France region during the same period.
Results
A screening thyroid-stimulating hormone level below 0.18 mIU/L on the third postnatal day had 71% (95% confidence interval [95%CI], 44%–90%) sensitivity, 99% (95%CI, 99%–100%) specificity, 81% (95%CI, 74%–86%) positive predictive value, and 98% (95%CI, 97%–99%) negative predictive value for detecting severe NH. By univariate regression analysis, the screening thyroid-stimulating hormone value was the strongest predictor of NH (p<0.00001), with an area under the receiver-operating characteristics curve of 0.98 (95%CI, 0.95–1.0). Expected frequencies were not significantly different from observed frequencies (Hosmer-Lemeshow test, p=0.99).
Conclusions
The screening thyroid-stimulating hormone test can be used to detect severe NH, the optimal cut-off being 0.18 mIU/L. The additional cost compared to screening for congenital hypothyroidism only would be small. Infants with neonatal hyperthyroidism would benefit from an earlier diagnosis with treatment initiation at the pre-symptomatic stage in many cases, ensuring optimal outcomes.
Efforts to implement family cord blood banking have been developed in the past decades for siblings requiring stem cell transplantation for conditions such as sickle cell disease. However, public banks are faced with challenging decisions about the units to be stored, discarded, or used for other endeavors. We report here 20 years of experience in family cord blood banking for sickle cell disease in two dedicated public banks. Participants were pregnant women who had a previous child diagnosed with homozygous sickle cell disease. Participation was voluntary and free of charge. All mothers underwent mandatory serological screening. Cord blood units were collected in different hospitals, but processed and stored in two public banks. A total of 338 units were stored for 302 families. Median recipient age was six years (11 months-15 years). Median collected volume and total nucleated cell count were 91 mL (range 23–230) and 8.6×108 (range 0.7–75×108), respectively. Microbial contamination was observed in 3.5% (n=12), positive hepatitis B serology in 25% (n=84), and homozygous sickle cell disease in 11% (n=37) of the collections. Forty-four units were HLA-identical to the intended recipient, and 28 units were released for transplantation either alone (n=23) or in combination with the bone marrow from the same donor (n=5), reflecting a utilization rate of 8%. Engraftment rate was 96% with 100% survival. Family cord blood banking yields good quality units for sibling transplantation. More comprehensive banking based on close collaboration among banks, clinical and transplant teams is recommended to optimize the use of these units.
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