DNA sequencing versus standard prenatal aneuploidy screening.

BACKGROUND: In high-risk pregnant women, noninvasive prenatal testing with the use of massively parallel sequencing of maternal plasma cell-free DNA (cfDNA testing) accurately detects fetal autosomal aneuploidy. Its performance in low-risk women is unclear. METHODS: At 21 centers in the United States, we collected blood samples from women with singleton pregnancies who were undergoing standard aneuploidy screening (serum biochemical assays with or without nuchal translucency measurement). We performed massively parallel sequencing in a blinded fashion to determine the chromosome dosage for each sample. The primary end point was a comparison of the false positive rates of detection of fetal trisomies 21 and 18 with the use of standard screening and cfDNA testing. Birth outcomes or karyotypes were the reference standard. RESULTS: The primary series included 1914 women (mean age, 29.6 years) with an eligible sample, a singleton fetus without aneuploidy, results from cfDNA testing, and a risk classification based on standard screening. For trisomies 21 and 18, the false positive rates with cfDNA testing were significantly lower than those with standard screening (0.3% vs. 3.6% for trisomy 21, P<0.001; and 0.2% vs. 0.6% for trisomy 18, P=0.03). The use of cfDNA testing detected all cases of aneuploidy (5 for trisomy 21, 2 for trisomy 18, and 1 for trisomy 13; negative predictive value, 100% [95% confidence interval, 99.8 to 100]). The positive predictive values for cfDNA testing versus standard screening were 45.5% versus 4.2% for trisomy 21 and 40.0% versus 8.3% for trisomy 18. CONCLUSIONS: In a general obstetrical population, prenatal testing with the use of cfDNA had significantly lower false positive rates and higher positive predictive values for detection of trisomies 21 and 18 than standard screening. (Funded by Illumina; ClinicalTrials.gov number, NCT01663350.).

Is office-based counseling about media use, timeouts, and firearm storage effective? Results from a cluster-randomized, controlled trial.

OBJECTIVE: The objective of this study was to determine whether patients' families' violence-prevention behaviors would be affected by their primary care practitioner's use of a violence-prevention clinical intervention during the routine well-child examination. METHODS: In this cluster-randomized, controlled trial (2002-2006), 137 Pediatric Research in Office Settings practices were randomly assigned and initiated patient recruitment for either an office-based violence-prevention intervention or a control group (educational handout on literacy promotion provided). Primary caregivers of children who were aged 2 to 11 years and presented for a well-child visit were surveyed at baseline and 1 and 6 months. Practitioners were trained to (1) review a parent previsit summary regarding patient-family behavior and parental concern about media use, discipline strategies, and children's exposure to firearms, (2) counsel using brief principles of motivational interviewing, (3) identify and provide local agency resources for anger and behavior management when indicated, and (4) instruct patient-families on use of tangible tools (minute timers to monitor media time/timeouts and firearm cable locks to store firearms more safely where children live or play). Main outcomes were change over time in self-reported media use <120 minutes per day, use of timeouts, and use of firearm cable locks. RESULTS: Generalized estimating equation analysis revealed a significant effect at 6 months for decreased media use and safer firearm storage. The intervention group compared with the control group showed an increase in limiting media use to <120 minutes per day. There was no significant effect for timeout use. There was a substantial increase in storing firearms with cable locks for the intervention group versus a decrease for the control group. CONCLUSIONS: This randomized, controlled trial demonstrated decreased media exposure and increased safe firearm storage as a result of a brief office-based violence-prevention approach.

Firearm ownership and storage patterns among families with children who receive well-child care in pediatric offices.

OBJECTIVE: In this study we examined firearm storage patterns and their associations in a diverse sample of families who attended pediatric practices from both rural and nonrural areas across the United States. METHODS: Parents who brought their children who were aged 2 to 11 years (N = 3745) to 96 Pediatric Research in Office Settings practices from 45 states, Canada, and Puerto Rico participated in an office-based survey before a well-child examination. The survey measured demographic variables; family history of guns in the home; and firearm types, storage behaviors, and ownership. RESULTS: Twenty-three percent of families reported firearm ownership. The majority (60%) of respondents reported making firearm storage decisions. Only one third of firearm owners reported safe firearm storage. Gun type owned was associated with storage habits, with long-gun owners storing their gun in places other than locked cabinets but with ammunition separate from guns and handgun users more likely to store guns loaded and to use gun locks. In a multivariate analysis, not being raised with a firearm was associated with safe storage behaviors. Families who had children aged 2 to 5 years and owned long guns were more likely to store their guns safely than families with older children. CONCLUSIONS: Few families reported safe firearm storage. Storage patterns are most influenced by firearm type(s) owned, family socialization with guns, and the age of the child. Primary care providers need to understand better not only whether firearms are in the home but also which types are present and whether parents were raised in homes with guns.