A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field.

The etiology of congenital heart defect (CHD) combines environmental and genetic factors. So far, there were studies reporting on the screening of a single gene on unselected CHD or on familial cases selected for specific CHD types. Our goal was to systematically screen a proband of familial cases of CHD on a set of genetic tests to evaluate the prevalence of disease-causing variant identification. A systematic screening of GATA4, NKX2-5, ZIC3 and Multiplex ligation-dependent probe amplification (MLPA) P311 Kit was setup on the proband of 154 families with at least two cases of non-syndromic CHD. Additionally, ELN screening was performed on families with supravalvular arterial stenosis. Twenty-two variants were found, but segregation analysis confirmed unambiguously the causality of 16 variants: GATA4 (1 ×), NKX2-5 (6 ×), ZIC3 (3 ×), MLPA (2 ×) and ELN (4 ×). Therefore, this approach was able to identify the causal variant in 10.4% of familial CHD cases. This study demonstrated the existence of a de novo variant even in familial CHD cases and the impact of CHD variants on adult cardiac condition even in the absence of CHD. This study showed that the systematic screening of genetic factors is useful in familial CHD cases with up to 10.4% elucidated cases. When successful, it drastically improved genetic counseling by discovering unaffected variant carriers who are at risk of transmitting their variant and are also exposed to develop cardiac complications during adulthood thus prompting long-term cardiac follow-up. This study provides an important baseline at dawning of the next-generation sequencing era.

Trends and determinants of use of long-acting reversible contraception use among young women in France: results from three national surveys conducted between 2000 and 2010.

OBJECTIVE: To investigate trends and determinants in the use of long-acting reversible contraceptives (LARCs), including intrauterine devices and implants, over the last decade among young women in France. DESIGN: Data drawn from three cross-sectional national probability surveys. SETTING: Not applicable. PATIENT(S): A total of 1,204 women, ages 15 to 29, who are at potential risk of an unintended pregnancy in 2000; 1,921 in 2005; and 1,281 in 2010. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Logistic regression models were used to explore trends in LARC use since 2000 and to examine determinants of LARC use in 2010. RESULT(S): A minority of women were using LARC methods, with a significant increase between 2000 and 2010, from 4.6% to 6.4%. The odds of LARC use in 2010 were higher among women 20 to 29 years, parous women, women with a history of unintended pregnancy, women in difficult financial situations, smokers, and women in the care of a gynecologist. CONCLUSION(S): This study shows that little progress has been made in LARC use among young women in France, despite these methods being widely available and reimbursed by the national health system.

Advantages of Ductal Echography (DE) over conventional breast investigation in the diagnosis of breast malignancies.

Ductal Echography (DE) is an anatomical method of breast investigation based upon the identification of mammary internal structures. By using the radial breast scanning DE is superior to other imagistic methods in breast investigation. In this paper the DE aspect of breast cancer will be presented.