Aim: Global implementation of genomic medicine will require education of healthcare providers. There are limited international needs assessment data to guide curriculum development. Materials & methods: Genomics education experts developed and distributed a survey to individuals with knowledge of country-specific needs: 113 completed surveys (19% response rate) from 34 countries. A high percentage of respondents ranked non genetics physicians as the #1 target for genetics education. Over 70% indicated a need for moderate/extensive modification in physician training. The majority considered germline and somatic topics and targeting primary care and specialist providers equally important. Conclusion: Regardless of country economic level, there is a clear need for genomics education of healthcare providers. The study results can be used to focus future genomic medicine education efforts.
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OBJECTIVES/GOALS: Health insurance status is associated with differences in access to healthcare and health outcomes. The objective of this study was to test the hypothesis that among infants born in the United States, maternal private insurance compared with public Medicaid insurance would be associated with a lower infant mortality rate (IMR). METHODS/STUDY POPULATION: This ecological study used data from the Center for Disease Control and Prevention (CDC) WONDER expanded linked birth and infant death records database 2017-2018. We included hospital-born infants from 20 to 42 weeks of gestational age (wga) if the mother had either private or Medicaid insurance. We excluded infants with congenital anomalies and infants who died due to congenital anomalies. We used negative-binomial regression adjusted for race, sex, multiple birth, and any maternal pregnancy risk factors (as defined by the CDC) to determine the difference in IMR between private and Medicaid insurance. Chi-square or Fishers exact test was used to compare differences in categorical variables between groups. RESULTS/ANTICIPATED RESULTS: We included 6,901,328 infants; 53.6% had private insurance and 46.4% were insured by Medicaid. Privately insured infants had a lower IMR compared with Medicaid insured infants (2.84/1000 vs. 5.32/1000; adjusted relative risk (aRR) 0.71; 95% confidence intervals (CI) 0.62 to 0.81; p<.0001). The privately insured had higher rates of 1st trimester prenatal care compared to those with Medicaid (85.6% vs. 66.6%; p<.00001). Rates of infant morbidity and maternal morbidity (per CDC definitions) were lower among the privately insured compared to those with Medicaid (both p<.00001). The privately insured had lower rates of preterm (9.1% vs. 11.0%), extremely preterm (0.5% vs. 0.7%), low birth weight (7.1% vs. 9.6%), and extremely low birth weight (0.5% vs. 0.7%) births compared to those with Medicaid (all p<0.001). DISCUSSION/SIGNIFICANCE: Private insurance is associated with a lower IMR compared to Medicaid insurance. Privately insured pregnancies also have higher rates of early prenatal care, less morbidity, and less preterm and low birth weight births. There may be opportunities to improve access to care and pregnancy outcomes among Medicaid insured pregnancies in the United States.
Tetrasomy 21 is a rare occurrence. Only 14 cases have been reported in the literature, 8 of which are partial tetrasomy cases and 6 which are complete tetrasomy cases. Of the incidences, no proband with true complete tetrasomy 21 has survived the neonatal period. We report complete mosaic tetrasomy 21 in a female infant with the typical Down syndrome phenotype, including Hirschsprung's disease and atrioventricular (AV) canal defect. This is in contrast to cases of partial tetrasomy 21, which often have an atypical trisomy 21 presentation and multiple nonspecific traits, including short stature, microcephaly, and developmental delays. This case demonstrates the difference in clinical presentation between the partial and complete subtype of tetrasomy 21 and provides the first postnatal clinical picture of an infant with true mosaic complete tetrasomy 21.
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