Methodology for establishing a population-based birth cohort focusing on couple fertility and children's development, the Upstate KIDS Study.

BACKGROUND: Critical data gaps remain regarding infertility treatment and child development. We assessed the utility of a birth certificate registry for developing a population cohort aimed at answering such questions. METHODS: We utilised the Upstate New York livebirth registry (n = 201,063) to select births conceived with (n = 4024) infertility treatment or exposed infants, who were then frequency-matched by residence to a random sample of infants conceived without (n = 14,455) treatment or unexposed infants, 2008-10. Mothers were recruited at 2-4 months postpartum and queried about their reproductive histories, including infertility treatment for comparison with birth certificate data. Overall, 1297 (32%) mothers of exposed and 3692 of unexposed (26%) infants enrolled. RESULTS: Twins represented 22% of each infant group. The percentage of infants conceived with/without infertility treatment was similar whether derived from the birth registry or maternal report: 71% none, 16% drugs or intrauterine insemination, and 14% assisted reproductive technologies (ART). Concordant reporting between the two data sources was 93% for no treatment, 88% for ART, and 83% for fertility drugs, but differed by plurality. Exposed infants had slightly (P < 0.01) earlier gestations than unexposed infants (38.3 ± 2.8 and 38.7 ± 2.7 weeks, respectively) based upon birth certificates but not maternal report (38.7 ± 2.7 and 38.7 ± 2.9, respectively). Conversely, mean birthweight was comparable using birth certificates (3157 ± 704 and 3194 ± 679 g, respectively), but differed using maternal report (3167 ± 692 and 3224 ± 661, respectively P < 0.05). CONCLUSIONS: The birth certificate registry is a suitable sampling framework as measured by concordance with maternally reported infertility treatment. Future efforts should address the impact of factors associated with discordant reporting on research findings.

A framework for key considerations regarding point-of-care screening of newborns.

Newborn screening is performed under public health authority, with analysis carried out primarily by public health laboratories or other centralized laboratories. Increasingly, opportunities to improve infant health will arise from including screening tests that are completed at the birth centers instead of in centralized laboratories, constituting a significant shift for newborn screening. This report summarizes a framework developed by the US Secretary of Health and Human Services Advisory Committee on Heritable Disorders in Newborns and Children based on a series of meetings held during 2011 and 2012. These meetings were for the purpose of evaluating whether conditions identifiable through point-of-care screening should be added to the recommended universal screening panel, and to identify key considerations for birth hospitals, public health agencies, and clinicians when point-of-care newborn screening is implemented.

What questions should newborn screening long-term follow-up be able to answer? A statement of the US Secretary for Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children.

The US Secretary of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children provides guidance on reducing the morbidity and mortality associated with heritable disorders detectable through newborn screening. Efforts to systematically evaluate health outcomes, beyond long-term survival, with a few exceptions, are just beginning. To facilitate these nascent efforts, the US Secretary of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children initiated a project to define the major overarching questions to be answered to assure that newborn screening is meeting its goal of achieving the best quality outcome for the affected children and their families. The questions identified follow the central components of long-term follow-up-care coordination, evidence-based treatment, continuous quality improvement, and new knowledge discovery-and are framed from the perspectives of the state and nation, primary and specialty healthcare providers, and the impacted families. These overarching questions should be used to guide the development of long-term follow-up data systems, quality health indicators, and specific data elements for evaluating the newborn screening system.

Long-term follow-up after diagnosis resulting from newborn screening: statement of the US Secretary of Health and Human Services' Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children.

The US Secretary of Health and Human Services' Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children provides guidance to reduce the morbidity and mortality associated with heritable disorders, with a special emphasis on those conditions detectable through newborn screening. Although long-term follow-up is necessary to maximize the benefit of diagnosis through newborn screening, such care is variable and inconsistent. To begin to improve long-term follow-up, the Advisory Committee has identified its key features, including the assurance and provision of quality chronic disease management, condition-specific treatment, and age-appropriate preventive care throughout the lifespan of affected individuals. There are four components central to achieving long-term follow-up: care coordination through a medical home, evidence-based treatment, continuous quality improvement, and new knowledge discovery.