The impact of a national population carrier screening program on cystic fibrosis birth rate and age at diagnosis: Implications for newborn screening.

BACKGROUND: Population carrier screening (PCS) has been available in Israel since 1999 and universally subsidized since 2008. We sought to evaluate its impact. METHODS: A retrospective review of governmental databanks, the national CF registry and CF centers. RESULTS: CF rate per 100,000 live births has decreased from 14.5 in 1990 to 6 in 2011. From 2004-2011 there were 95 CF births: 22 utilized PCS; 68 (72%) had 2 known CFTR mutations; 37% were pancreatic sufficient. At diagnosis, age was 6 (0-98) months; 53/95 had respiratory symptoms, 41/95 failure to thrive and 19/95 pseudomonas. Thirty-four (36%) were Arabs and 19 (20%) orthodox Jews, compared to 20% and 8% respectively, in the general population. CONCLUSIONS: PCS markedly reduced CF birth rates with a shift towards milder mutations, but was often avoided for cultural reasons. As children regularly have significant disease at diagnosis, we suggest a balanced approach, utilizing both PCS and newborn screening.

A new ethical landscape of prenatal testing: individualizing choice to serve autonomy and promote public health: a radical proposal.

A new landscape of prenatal testing (PNT) is presently developing, including new techniques for risk-reducing, non-invasive sampling of foetal DNA and drastically enhanced possibilities of what may be rapidly and precisely analysed, surrounded by a growing commercial genetic testing industry and a general trend of individualization in healthcare policies. This article applies a set of established ethical notions from past debates on PNT for analysing PNT screening-programmes in this new situation. While some basic challenges of PNT stay untouched, the new development supports a radical individualization of how PNT screening is organized. This reformation is, at the same time, difficult to reconcile with responsible spending of resources in a publicly funded healthcare context. Thus, while the ethical imperative of individualization holds and applies to PNT, the new landscape of PNT provides reasons to start rolling back the type of mass-screening programmes currently established in many countries. Instead, more limited offers are suggested, based on considerations of severity of conditions and optimized to simultaneously serve reproductive autonomy and public health within an acceptable frame of priorities. The new landscape of PNT furthermore underscores the ethical importance of supporting and including people with disabilities. For the very same reason, no ban on what may be analysed using PNT in the new landscape should be applied, although private offers must, of course, conform to strict requirements of respecting reproductive autonomy and what that means in terms of counselling.

Prenatal screening: an ethical agenda for the near future.

Prenatal screening for foetal abnormalities such as Down's syndrome differs from other forms of population screening in that the usual aim of achieving health gains through treatment or prevention does not seem to apply. This type of screening leads to no other options but the choice between continuing or terminating the pregnancy and can only be morally justified if its aim is to provide meaningful options for reproductive choice to pregnant women and their partners. However, this aim should not be understood as maximizing reproductive choice per se. Only if understood as allowing prospective parents to avoid suffering related to living with (a child with) serious disorders and handicaps can prenatal screening be a publicly or collectively funded programme. The alternative of moving prenatal testing outside the healthcare system into the private sector is problematic, as it makes these tests accessible only to those who can afford to pay for it. New developments in prenatal screening will have to be assessed in terms of whether and to what extent they either contribute to or undermine the stated aim of providing meaningful options for reproductive choice. In the light of this criterion, this article discusses the introduction of the new non-invasive prenatal test (NIPT), the tendency to widen the scope of follow-up testing, as well as the possible future scenarios of genome-wide screening and 'prenatal personalised medicine'. The article ends with recommendations for further debate, research and analysis.

Aneurisma del seno portal: diagnóstico prenatal / Portal sinus aneurysm: prenatal diagnosis

Se presentan dos casos de aneurisma del seno portal diagnosticados en la semana 36 y 20 de gestación, que se confirmaron en el periodo posnatal. La complicación más frecuente y grave de los aneurismas fetales es la trombosis, hecho que se asocia a alto riesgo fetal. El diagnóstico y la vigilancia se realizan por ecografía; sin embargo, no existen pautas determinadas para su tratamiento y solo la administración de corticoides puede mejorar su pronóstico si se considera necesario terminar la gestación antes de la semana 35 (AU)

Two cases of portal sinus aneurysm are reported. The aneurysms were diagnosed in the 36th and 20th week of the pregnancy and were confirmed in the postnatal period. The most important and frequent complication in aneurysmal formations in the fetus is thrombosis, which is associated with high fetal risk. Diagnosis and monitoring are performed with ultrasonography. There are no specific guidelines for treatment and the prognosis can be improved only by corticosteroid administration. If necessary, the pregnancy can be terminated before the 35th week (AU)

The incidence of spina bifida in Sweden 1973-2003: the effect of prenatal diagnosis.

BACKGROUND: Many studies have been conducted on the accuracy of prenatal ultrasound diagnosis of foetal CNS-malformations. These studies were mostly hospital-based or, sometimes, multicentre studies. We present here a population-based study of the prenatal diagnosis of spina bifida in Sweden over a period of 31 years. METHODS: We compared the number of newborns with spina bifida and the elective terminations because of the prenatal diagnosis of spina bifida for different periods. RESULTS: The rate of spina bifida among newborns diminished gradually from 0.55 per 1000 to 0.29 per 1000 during the study period. In M county the rate of spina bifida at birth decreased very rapidly and from 1993 onwards was about half of that in the rest of the country. CONCLUSION: There has been a decline in the rate of spina bifida at birth. This decline can be seen earlier in the southern part of the country, M county. The decline is probably, to a great extent, a consequence of prenatal ultrasound screening.