BACKGROUND By late 1993, the genes for cystic fibrosis and Gaucher disease and the mutations common among Ashkenazi Jews had been identified. In response to these advances, heterozygote screening for cystic fibrosis and Gaucher disease was added to the more than 20-year-old Tay-Sachs disease screening program at New York University Medical Center, New York, NY. OBJECTIVE To review the outcome...

BACKGROUND The effectiveness of prenatal treatment to prevent serious neurological sequelae (SNSD) of congenital toxoplasmosis is not known. METHODS AND FINDINGS Congenital toxoplasmosis was prospectively identified by universal prenatal or neonatal screening in 14 European centres and children were followed for a median of 4 years. We evaluated determinants of postnatal death or SNSD defined...

One hundred fifty-five individuals at 50% risk of inheriting Huntington disease (HD) were given a questionnaire surveying their sociodemographic characteristics, experience with HD, and attitudes toward presymptomatic and prenatal testing in HD. About two-thirds (63.2%) of the persons indicated they would take a presymptomatic test even if no specific treatment was available. Although one-half ...

Newborn screening is a mandatory state-based public health program that provides all newborns in the United States with presymptomatic testing and necessary follow-up health care for a variety of medical conditions. The goal of this essential public health program is to decrease morbidity and mortality by screening for disorders in which early intervention will improve neonatal and long-term he...

Objective: To provide family practitioners, obstetricians, and geneticists with guidelines and recommendations for prenatal diagnosis. Options: These guidelines apply to non-invasive screening techniques (including maternal serum screening and ultrasound) and to invasive techniques (including amniocentesis and chorionic villus sampling). Outcomes: Improved prenatal diagnosis of congenital abnor...

According to the medical profession the direction and scope of reproductive services such as IVF and pre-natal screening are based on solid evidence; the evidence indicates these are effective and safe services. Moreover, women want them. As a consequence these services are usually presented to the wider community in a positive light with images of 'successful' birth outcomes showcasing the imp...

Advances in prenatal diagnosis create a unique set of clinical ethics dilemmas. Doctors routinely obtain genetic screening, radiologic images, and biophysical profiling. These allow more accurate diagnosis and prognosis than has ever before been possible. However, they also reveal a wider range of disease manifestations than were apparent when prenatal diagnosis was less sophisticated. Sometime...

In The Netherlands, neonatal euthanasia has become a legal option and the Groningen Protocol contains an approach to identify situations in which neonatal euthanasia might be appropriate. In the 5 years following the publication of the protocol, neither the prediction that this would be the first step on a slippery slope, nor the prediction of complete transparency and legal control became true...

One widely held view of prenatal screening (PNS) is that its foremost aim is, or should be, to enable reproductive choice; this is the Pure Choice view. The article critiques this position by comparing it with an alternative: Public Health Pluralism. It is argued that there are good reasons to prefer the latter, including the following. (1) Public Health Pluralism does not, as is often supposed...