Outcomes of children diagnosed via newborn screening

see Developing a public health-tracking system for follow-up of newborn screening metabolic conditions: a four-state pilot project structure and initial findings

The nationwide expansion of newborn screening programs provides an opportunity to better understand how early identification affects health outcomes of children. But lack of standardized data collection and of collaborative long-term follow-up has hindered efforts to determine whether children diagnosed with metabolic disorders receive appropriate health-care services. To address this issue, the US Centers for Disease Control and Prevention funded a three-year pilot project to expand and enhance public health data-collection programs in four states: California, Iowa, New York, and Utah. The authors report that the project not only improved state-level data but also, importantly, provided pooled data that sped the process of acquiring sufficient information to better understand how these rare disorders affect health outcomes. A total of 261 infants diagnosed with 1 of 19 metabolic disorders were followed through age 3. The research revealed that 88% received care at a metabolic clinic at least once in their first year of life. Those figures fell slightly to 77% in their second year and 74% in their third year. In the first year of follow-up, almost all the children (94%) saw a metabolic geneticist at least once; most (78%) also saw a metabolic dietitian, and half received services from a genetic counselor. The authors argue that continuing to track the long-term outcome of children diagnosed with metabolic disorders through newborn screening is necessary to maintain quality of care, identify areas for improvement, and observe the epidemiology of disorders recently added to the screening panel. —Karyn Hede, News Editor

Connecting the Dots Between Prenatal Testing and a Violent Society

see Impact of prenatal technologies on the sex ratio in India: an overview and Prenatal technologies and the sex ratio

Noninvasive prenatal testing undoubtedly serves a vital role in early detection of genetic defects, but the authors of a review and an accompanying commentary in this issue bring critical focus to the technology’s darker uses. Widespread use of prenatal diagnostic technologies to discover a fetus’ sex early in pregnancy has led to highly skewed female-to-male ratios in China and (the focus of the review) in India. The review’s authors draw troubling correlations between low female birth rates in several Indian provinces and higher levels of violence against women. They point out that, despite Indians’ ingrained cultural preference for a boy, the problem had previously been contained. Recently, however, it has resurfaced owing to the availability of increasingly common and inexpensive methods for prenatal sex selection as well as financially burdensome demands for brides’ dowries. The ability to identify a male fetus via noninvasive prenatal testing, available since the mid-2000s, is further encouraging prenatal sex determination, the authors state. They report that India’s current female/male sex ratio of 0.914 among children under 6 is historically low and that in some areas, it is well below 0.9.

In his related commentary, Peter Benn, Director of Diagnostic Human Genetics Laboratories at the University of Connecticut Health Center, argues that clinical geneticists must confront these difficult moral quandaries: “The example of prenatal gender identification illustrates that even the most basic genetic information can fundamentally affect societies in worrisome ways.” He notes that the recent public outcry about gruesome crimes against women in India could be used to put pressure on authorities to enforce laws banning prenatal sex selection. —Karyn Hede, News Editor