NIPS + FTS = ?: A consideration of the next steps of prenatal screening

Since its introduction less than four years ago, noninvasive prenatal screening (NIPS) has been widely adopted as a screening tool for women at a high-risk for fetal aneuploidy. As use expands into the general population, questions arise concerning the integration of NIPS into preexisting screening routines. We surveyed 208 practicing genetic counselors to assess the current use of NIPS. Genetic counselors were queried as to the advantages/disadvantages of offering NIPS to all patients regardless of a priori risk. Results indicate substantial variation in practice. The majority of participants report offering NIPS in conjunction with another method of screening for fetal aneuploidy, indicating that NIPS is being used as an addition rather than as a replacement. Most offer NIPS with another form of screening, predominantly either first trimester ultrasound, NT, and an MSAFP (45.1%, n=78), or first trimester serum screening, with or without an NT, and an MSAFP (19.7%, n=34). Counselors are evenly split on the merits of expanding the use of NIPS to the general population (con: 55.3%, n=105; pro: 44.7%, n=85). The lack of consensus among respondents suggests that practice guidelines might benefit counselors at this time. In addition, the respondents emphasize the significance of better educating providers about the risks, benefits, and limitations of the test

Relative risk for cardiovascular atherosclerotic events after smoking cessation: 6–9 years excess risk in individuals with familial hypercholesterolemia

BACKGROUND: Smoking history is often di- or trichotomized into for example "never, ever or current smoking". However, smoking must be treated as a time-dependent covariate when lifetime data is available. In particular, individuals do not smoke at birth, there is usually a wide variation with respect to smoking history, and smoking cessation must also be considered. METHODS: Therefore we analyzed smoking as a time-dependent risk factor for cardiovascular atherosclerotic events in a cohort of 2400 individuals with familial hypercholesterolemia who were followed from birth until 2004. Excess risk after smoking-cessation was modelled in a Cox regression model with linear and exponential decaying trends. The model with the highest likelihood value was used to estimate the decay of the excess risk of smoking. RESULTS: Atherosclerotic events were observed in 779 patients with familial hypercholesterolemia and 1569 individuals had a smoking history. In the model with the highest likelihood value the risk reduction of smoking after cessation follows a linear pattern with time and it appears to take 6 to 9 years before the excess risk is reduced to zero. The risk of atherosclerotic events due to smoking was estimated as 2.1 (95% confidence interval 1.5; 2.9). CONCLUSION: It was concluded that excess risk due to smoking declined linearly after cessation in at least six to nine years