GENOMA Molecular Genetics Laboratory

Rome, Italy

GENOMA Molecular Genetics Laboratory

Rome, Italy
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Santino I.,University of Rome La Sapienza | Alari A.,University of Rome La Sapienza | Bono S.,GENOMA Molecular Genetics Laboratory | Bernardini A.,University of Rome La Sapienza | And 2 more authors.
International Journal of Immunopathology and Pharmacology | Year: 2014

The yeast Saccharomyces boulardii is a biotherapeutic agent used for the prevention and treatment of several gastrointestinal diseases, such as diarrhoea caused by Clostridium difficile, in addition to the antibiotic therapy. In this study we report a case of Saccharomyces cerevisiae fungemia in a patient with Clostridium difficile-associated diarrhoea (CDAD) treated orally with S. boulardii in association with vancomycin. The identification of the S. cerevisiae was confirmed by molecular technique. Fungemia is a rare, but a serious complication to treatment with probiotics. We believe it is important to remind the clinicians of this risk when prescribing probiotics, especially to immunocompromised patients. Copyright © by BIOLIFE, s.a.s.

Fiorentino F.,GENOMA Molecular Genetics Laboratory | Caiazzo F.,GENOMA Molecular Genetics Laboratory | Napolitano S.,GENOMA Molecular Genetics Laboratory | Spizzichino L.,GENOMA Molecular Genetics Laboratory | And 7 more authors.
Prenatal Diagnosis | Year: 2011

Objective: To assess the feasibility of offering array-based comparative genomic hybridization testing for prenatal diagnosis as a first-line test, a prospective study was performed, comparing the results achieved from array comparative genomic hybridization (aCGH) with those obtained from conventional karyotype. Method: Women undergoing amniocentesis or chorionic villus sampling were offered aCGH analysis. A total of 1037 prenatal samples were processed in parallel using both aCGH and G-banding for standard karyotyping. Specimen types included amniotic fluid (89.0%), chorionic villus sampling (9.5%) and cultured amniocytes (1.5%). Results: Chromosomal abnormalities were identified in 34 (3.3%) samples; in 9 out of 34 cases (26.5%) aCGH detected pathogenic copy number variations that would not have been found if only a standard karyotype had been performed. aCGH was also able to detect chromosomal mosaicism at as low as a 10% level. There was complete concordance between the conventional karyotyping and aCGH results, except for 2 cases that were only correctly diagnosed by aCGH. Conclusions: This study demonstrates that aCGH represents an improved diagnostic tool for prenatal detection of chromosomal abnormalities. Although larger studies are needed, our results provide further evidence on the feasibility of introducing aCGH as a first-line diagnostic test in routine prenatal diagnosis practice. © 2011 John Wiley & Sons, Ltd.

Fiorentino F.,GENOMA Molecular Genetics Laboratory | Spizzichino L.,GENOMA Molecular Genetics Laboratory | Bono S.,GENOMA Molecular Genetics Laboratory | Biricik A.,GENOMA Molecular Genetics Laboratory | And 6 more authors.
Human Reproduction | Year: 2011

Background: Fluorescence in situ hybridization (FISH) is the most widely used method for detecting unbalanced chromosome rearrangements in preimplantation embryos but it is known to have several technical limitations. We describe the clinical application of a molecular-based assay, array comparative genomic hybridization (array-CGH), to simultaneously screen for unbalanced translocation derivatives and aneuploidy of all 24 chromosomes. Methods: Cell biopsy was carried out on cleavage-stage embryos (Day 3). Single cells were first lysed and DNA amplified by whole-genome amplification (WGA). WGA products were then processed by array-CGH using 24sure arrays, BlueGnome. Balanced/normal euploid embryos were then selected for transfer on Day 5 of the same cycle. Results: Twenty-eight consecutive cycles of preimplantation genetic diagnosis were carried out for 24 couples carrying 18 different balanced translocations. Overall, 187/200 (93.5) embryos were successfully diagnosed. Embryos suitable for transfer were identified in 17 cycles (60.7), with transfer of 22 embryos (mean 1.3 ± 0.5). Twelve couples achieved a clinical pregnancy (70.6 per embryo transfer), with a total of 14 embryos implanted (63.6 per transferred embryo). Three patients delivered three healthy babies, during writing, the other pregnancies (two twins and seven singletons) are ongoing beyond 20 weeks of gestation. Conclusions: The data obtained demonstrate that array-CGH can detect chromosome imbalances in embryos, also providing the added benefit of simultaneous aneuploidy screening of all 24 chromosomes. Array-CGH has the potential to overcome several inherent limitations of FISH-based tests, providing improvements in terms of test performance, automation, sensitivity and reliability. © 2011 The Author.

Fiorentino F.,GENOMA Molecular Genetics Laboratory | Napoletano S.,GENOMA Molecular Genetics Laboratory | Caiazzo F.,GENOMA Molecular Genetics Laboratory | Sessa M.,GENOMA Molecular Genetics Laboratory | And 6 more authors.
European Journal of Human Genetics | Year: 2013

In this study, we aimed to explore the utility of chromosomal microarray analysis (CMA) in groups of pregnancies with a priori low risk for detection of submicroscopic chromosome abnormalities, usually not considered an indication for testing, in order to assess whether CMA improves the detection rate of prenatal chromosomal aberrations. A total of 3000 prenatal samples were processed in parallel using both whole-genome CMA and conventional karyotyping. The indications for prenatal testing included: advanced maternal age, maternal serum screening test abnormality, abnormal ultrasound findings, known abnormal fetal karyotype, parental anxiety, family history of a genetic condition and cell culture failure. The use of CMA resulted in an increased detection rate regardless of the indication for analysis. This was evident in high risk groups (abnormal ultrasound findings and abnormal fetal karyotype), in which the percentage of detection was 5.8% (7/120), and also in low risk groups, such as advanced maternal age (6/1118, 0.5%), and parental anxiety (11/1674, 0.7%). A total of 24 (0.8%) fetal conditions would have remained undiagnosed if only a standard karyotype had been performed. Importantly, 17 (0.6%) of such findings would have otherwise been overlooked if CMA was offered only to high risk pregnancies.The results of this study suggest that more widespread CMA testing of fetuses would result in a higher detection of clinically relevant chromosome abnormalities, even in low risk pregnancies. Our findings provide substantial evidence for the introduction of CMA as a first-line diagnostic test for all pregnant women undergoing invasive prenatal testing, regardless of risk factors. © 2013 Macmillan Publishers Limited. All rights reserved.

PubMed | GENOMA Molecular Genetics Laboratory and European Hospital
Type: Journal Article | Journal: Journal of assisted reproduction and genetics | Year: 2016

The aim of the study was to evaluate two methods of endometrial preparation for frozen-thawed single euploid blastocyst transfer: modified natural and artificial cycle with GnRH-agonist pituitary suppression.In this prospective, controlled randomized trial, a total of 236 patients undergoing infertility treatment were randomized in 1:1 ratio; 118 received a frozen-thawed single euploid blastocyst transfer in a modified natural cycle and 118 in an artificial cycle with GnRH-agonist pituitary suppression. In the artificial protocol, GnRH-agonist combined with estradiol valerate was administered. In the natural protocol, only final oocyte maturation was induced using human chorionic gonadotropin administration. The primary end-points were the clinical pregnancy and implantation rates; the secondary end-points were the cost-benefit in terms of drug cost and the number of visits and the woman psychological distress caused by the treatment.No significant differences were found in clinical pregnancy, implantation, and miscarriage rates between protocols. The number of clinical and ultrasound controls and the number of laboratory dosages and venous samplings were similar in both study groups. No significant differences were found between the groups in the anxiety and depression values before the start of treatment, on the days of progesterone administration, the blastocyst transfer, and pregnancy test.The findings of this study evidence that in case of frozen-thawed single euploid blastocyst transfer, both protocols are equally effective in terms of clinical outcomes, cost-benefit, and patient compliance. The choice of endometrial preparation protocol should be based on women menstrual and ovulatory characteristics or otherwise on patient need for cycle with number NCT02378584.

Fiorentino F.,Genoma Molecular Genetics Laboratory | Biricik A.,Genoma Molecular Genetics Laboratory | Bono S.,Genoma Molecular Genetics Laboratory | Spizzichino L.,Genoma Molecular Genetics Laboratory | And 4 more authors.
Fertility and Sterility | Year: 2014

Objective To validate a next-generation sequencing (NGS)-based method for 24-chromosome aneuploidy screening and to investigate its applicability to preimplantation genetic screening (PGS). Design Retrospective blinded study. Setting Reference laboratory. Patient(s) Karyotypically defined chromosomally abnormal single cells and whole-genome amplification (WGA) products, previously analyzed by array comparative genomic hybridization (array-CGH), selected from 68 clinical PGS cycles with embryos biopsied at cleavage stage. Intervention(s) None. Main Outcome Measure(s) Consistency of NGS-based diagnosis of aneuploidy compared with either conventional karyotyping of single cells or array-CGH diagnoses of single blastomeres. Result(s) Eighteen single cells and 190 WGA products from single blastomeres, were blindly evaluated with the NGS-based protocol. In total, 4,992 chromosomes were assessed, 402 of which carried a copy number imbalance. NGS specificity for aneuploidy call (consistency of chromosome copy number assignment) was 99.98% (95% confidence interval [CI] 99.88%-100%) with a sensitivity of 100% (95% CI 99.08%-100%). NGS specificity for aneuploid embryo call (24-chromosome diagnosis consistency) was 100% (95% CI 94.59%-100%) with a sensitivity of 100% (95% CI 97.39%-100%). Conclusion(s) This is the first study reporting extensive preclinical validation and accuracy assessment of NGS-based comprehensive aneuploidy screening on single cells. Given the high level of consistency with an established methodology, such as array-CGH, NGS has demonstrated a robust high-throughput methodology ready for clinical application in reproductive medicine, with potential advantages of reduced costs and enhanced precision. Copyright © 2014 American Society for Reproductive Medicine, Published by Elsevier Inc.

Santino I.,University of Rome La Sapienza | Bono S.,GENOMA Molecular Genetics Laboratory | Borruso L.,University of Rome La Sapienza | Bove M.,University of Rome La Sapienza | And 3 more authors.
Mycoses | Year: 2013

Kodamaea ohmeri is an unusual yeast-form fungus that has recently been identified as an important aetiological agent of fungaemia, endocarditis, cellulitis, funguria and peritonitis in immunocompromised patients. We present two new isolated of K. ohmeri. The microorganisms were identified by CHROMagar Candida medium, VitekII system and API ID32C. Biochemical identification of the two yeast isolates was confirmed by sequence analysis of the 26S ribosomal DNA. Antifungal susceptibility testing done by Sensititre YeastOne showed that the isolates were susceptible to amphotericin B, voriconazole and itraconazole. This work is the first report of isolation of K. ohmeri in immunocompromised patients in Italy. © 2012 Blackwell Verlag GmbH.

Santino I.,University of Rome La Sapienza | Bono S.,GENOMA Molecular Genetics Laboratory | Nuccitelli A.,GENOMA Molecular Genetics Laboratory | Martinelli D.,University of Rome La Sapienza | And 2 more authors.
International Journal of Immunopathology and Pharmacology | Year: 2013

Fifteen Klebsiella pneumoniae clinical isolates showing non-susceptibility to carbapenems and resistant to colistin were collected in an Italian hospital. All isolates resulted negative to AmpC, MBL and ESBL production but positive to modified Hodge test, therefore were evaluated as KPC producers. The presence of blaKPC genes was verified by polymerase chain reaction (PCR) and sequencing. Furthermore, molecular typing was performed by multilocus sequence typing (MLST). PCR analysis and nucleotide sequencing revealed that all 15 isolates carried the blaKPC-3 gene. MLST analysis attributed the isolates from all patients to belong to the sequence type ST512. All isolates showed extensively drug-resistant (XDR) phenotype. The emergence of colistin-resistant K. pneumoniae underscores the implementation of strict control measures to prevent the dissemination of these organisms in hospitals. Copyright © by BIOLIFE, s.a.s.

Fiorentino F.,GENOMA Molecular Genetics Laboratory
Seminars in Reproductive Medicine | Year: 2012

Preimplantation genetic diagnosis (PGD) has experienced a considerable technical evolution since its first application in the early 1990s. The technology for single-cell genetic analysis has reached an extremely high level of accuracy and enabled the possibility of performing multiple diagnoses from one cell. Diagnosis of a monogenic disease can now be combined with aneuploidy screening, human leukocyte antigen typing, and DNA fingerprinting. New technologies such as microarrays are opening the way for an increasing number of serious genetic defects to be detected in preimplantation embryos. The new PGD techniques will empower patients and clinicians to screen for almost any kind of genetic problem in embryos, with the potential to change completely the manner in which parents approach and manage genetic disease. Copyright © 2012 by Thieme Medical Publishers, Inc.

Fiorentino F.,GENOMA Molecular Genetics Laboratory
Current Opinion in Obstetrics and Gynecology | Year: 2012

PURPOSE OF REVIEW: Embryo assessment is a crucial component to the success of IVF. A high rate of embryos produced in vitro present chromosomal abnormalities and have reduced potential for achieving a viable pregnancy. The use of preimplantation genetic diagnosis by array comparative genomic hybridization, for comprehensive aneuploidy screening of embryos, to improve IVF outcomes, is reviewed. RECENT FINDINGS: Data from comprehensive aneuploidy screening of embryos showed that aneuploidies may occur in any of the 24 chromosomes, indicating that aneuploidy screening of all chromosomes is necessary to determine whether an embryo is chromosomally normal. Initial studies on clinical application of this technology have documented improved pregnancy outcomes following transfer of screened embryos. The optimal stage of preimplantation development at which preimplantation genetic screening (PGS) should be performed still remains to be determined. SUMMARY: Although clinical results have been promising, further evidence is required to establish whether PGS results in enhanced live birth rate, and if this is the case, to identify which patients may benefit from the procedure. The results from several ongoing randomized controlled trials, performed at different cell biopsy stage and categories of patients, will provide the data needed to accept or reject the clinical efficacy of PGS. © 2012 Wolters Kluwer Health | Lippincott Williams & Wilkins.

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