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Abstract: Combined screening for trisomy 21 (CS) is established since January 2010 in multidisciplinary centers for prenatal screening in Marseille. Our work investigates its implementation. To date, the false positive rate is 3.5% and the coverage of the SC after six months is 5.7% in our low-risk population. [ABSTRACT FROM AUTHOR]

Background: Analysis of circulating cell-free fetal DNA (cffDNA) in maternal plasma is very promising for early diagnosis of monogenic diseases. However, this approach is not yet available for routine use and remains technically challenging because of the low concentration of cffDNA, which is swamped by the overwhelming maternal DNA., Methods: To make clinical applications more readily accessible, we propose a new approach based on mutant enrichment with 3'-modified oligonucleotides (MEMO) PCR along with real-time PCR to selectively amplify from the maternal blood the paternally inherited fetal allele that is not present in the maternal genome., Results: The first proof of concept of this strategy was displayed for cystic fibrosis by the accuracy of our detection of the p.Gly542* mutation used as the initial developmental model. Subsequently, a retrospective study of plasmas originating from two pregnant women carrying a fetus with private mutation confirmed the effectiveness of our method. We confirmed the presence of cffDNA in the studied samples by the identification of a tri-allelic DNA profile using a miniSTR kit., Conclusions: This new non-invasive prenatal diagnosis test offers numerous advantages over current methods: it is simple, cost effective, time efficient and does not require complex equipment or bioinformatics settings. Moreover, our assays for different private mutations demonstrate the viability of this approach in clinical settings for monogenic disorders.

Predicting pregnancy complications is a major topic for clinicians and biologists for maternal and fetal monitoring. Noninvasive biomarkers in maternal blood such as circulating microRNAs (miRNAs) are promising molecules to predict pregnancy disorders. miRNAs are noncoding short RNAs that regulate mRNA expression by repressing the translation or cleaving the transcript. miRNAs are released to the extracellular systemic circulation via exosomes. The discovery of plasma- or serum-derived miRNAs and of free-circulating exosomes that contain miRNAs provides useful information about the physiological or pathophysiological roles of the miRNAs. Specific placental miRNAs are present in maternal plasma in different ways depending on whether the pregnancy is normal or pathological or if there is no pregnancy. This paper focuses on placental miRNAs and extracellular miRNAs to the placenta whose misregulation could lead to pregnancy complications.

Combined screening for trisomy 21 (CS) is established since January 2010 in multidisciplinary centers for prenatal screening in Marseille. Our work investigates its implementation. To date, the false positive rate is 3.5% and the coverage of the SC after six months is 5.7% in our low-risk population., (Copyright © 2010 Elsevier Masson SAS. All rights reserved.)

Planning the provision of dental care in nursing homes requires evaluation of both dental needs and demand for services. Dental treatment needs have been documented for residents of longterm care facilities. This paper examines the actual dental care provided to institutionalized persons demanding care. Dental records of 144 patients at a Veterans Administration Nursing Home Care Unit (NHCU) were reviewed to evaluate needs and treatment demands. About 20 percent of the NHCU patients were currently receiving dental treatment; the remainder were on recall (closed cases). Of the total services needed, slightly over half were denture related services, about a quarter were oral surgical services, and 16 percent were operative procedures. Almost a third refused some or all of the proposed dental treatment; seven percent were unable to be examined or treated. No statistically significant difference was found between the age and the level of nursing home care needed for those receiving treatment and those refusing treatment. Once the backlog of need was met, this NHCU dental program consisted primarily of recall exams, and prosthetic and oral surgical treatment. The case mix and refusal rate may change, however, as future cohorts of elders retain more teeth and have experienced preventive dental services during their lifetimes.