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Manno M.,Pathophysiology of Human Reproduction and Sperm Bank Unit | Picci L.,University of Padua
Fertility and Sterility

Objective: To explain the lack of genotype-phenotype correlation observed in a patient double heterozygous for the 852del22 and F508del mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Design: Case report. Setting: Medical laboratory department. Patient(s): A 42-year-old asymptomatic patient underwent genetic screening for in vitro fertilization (IVF). Intervention(s): CFTR genetic screening (commercial kit aimed at detecting 57 mutations), segregation analysis, evaluation of the polymerase chain reaction (PCR) products using a denaturing high performance liquid chromatography (DHPLC), and sequence analysis. Main Outcome Measure(s): To avoid diagnostic errors and improve genetic counseling. Result(s): Segregation analysis allowed us to establish that the mutations were in trans. Analysis of the PCR products using a DHPLC apparatus showed a heteroduplex formation indicative of a heterozygous variant in exon 6A. Direct sequencing characterized the heterozygous variant as an A to T transversion at nucleotide position 875+11. Therefore, the change of one single nucleotide in a portion surrounding the 852del22 mutation facilitated the aspecific interaction between the commercial oligonucleotide probe and the amplified genomic DNA, which explains the 852del22 mutation false molecular positivity that was detected by the line probe assay. Conclusion(s): The individualization of 852del22 mutation by a standard genetic panel should be confirmed by more extensive analyses. ©2011 by American Society for Reproductive Medicine. Source

La Marca A.,University of Modena and Reggio Emilia | Nelson S.M.,University of Glasgow | Sighinolfi G.,University of Modena and Reggio Emilia | Manno M.,Pathophysiology of Human Reproduction and Sperm Bank Unit | And 7 more authors.
Reproductive BioMedicine Online

Prediction of assisted reproduction treatment outcome has been the focus of clinical research for many years, with a variety of prognostic models describing the probability of an ongoing pregnancy or a live birth. This study assessed whether serum anti-Müllerian hormone (AMH) concentrations may be incorporated into a model to enhance the prediction of a live birth in women undergoing their first IVF cycle, by analysing a database containing clinical and laboratory information on IVF cycles carried out between 2005 and 2008 at the Mother-Infant Department of University Hospital, Modena. Logistic regression was used to examine the association of live birth with baseline patient characteristics. Only AMH and age were demonstrated in regression analysis to predict live birth, so a model solely based on these two criteria was generated. The model permitted the identification of live birth with a sensitivity of 79.2% and a specificity of only 44.2%. In the prediction of a live birth following IVF, a distinction, however moderate, can be made between couples with a good and a poor prognosis. The success of IVF was found to mainly depend on maternal age and serum AMH concentrations, one of the most relevant and valuable markers of ovarian reserve. © 2010, Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved. Source

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