Journal of prenatal medicine最新文献

{"title":"Next generation sequencing in the identification of a rare genetic disease from preconceptional couple screening to preimplantation genetic diagnosis.","authors":"Claudio Dello Russo,&nbsp;Gianluca Di Giacomo,&nbsp;Alvaro Mesoraca,&nbsp;Laura D'Emidio,&nbsp;Paola Iaconianni,&nbsp;Elisa Minutolo,&nbsp;Assunta Lippa,&nbsp;Claudio Giorlandino","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Introduction: </strong>the use of Next Generation Sequencing (NGS) in the diagnosis of rare genetic pathologies is becoming ever more widespread in clinical practice. The following study reports the first case of preimplantation diagnosis through NGS of a form of LAMA2-related muscular dystrophy.</p><p><strong>Case report: </strong>a couple came to our Reproductive Medicine Centre for a preconceptional genetic consultation and for advice regarding secondary infertility. The couple already had a 3-year-old child who was suffering from a form of muscular dystrophy that has yet to be genetically defined. The disease had been diagnosed at the age of 6 months. A blood sample was taken from both parents and the child in order to analyze the DNA through the Illumina NextSeq 500 platform and an enrichment protocol, Trusight One Sequencing Panel, created by Illumina for the simultaneous sequencing of the exon regions of 4,813 clinically relevant genes. This led to the identification of 2 point mutations in the LAMA2 gene, each inherited by a parent. The couple then underwent a cycle of IVF (in vitro fertilization). A preimplantation genetic diagnosis was carried out on the embryos obtained after setting up a protocol for the analysis of a point mutation in the LAMA2 gene, (this mutation has yet to be described in literature) and the normal embryos together with the recessive LAMA2-related muscular dystrophy related carriers were transferred. There were no complications during pregnancy, which terminated with a cesarean section at 39 weeks and the birth of healthy 3430-gram baby.</p><p><strong>Conclusions: </strong>given its robustness, reliability and reproducibility, NGS could also be useful in prenatal diagnosis. This technique could guarantee an ample and quick analysis of the genes involved in development, making it possible to organize medical interventions during pregnancy and after birth.</p>","PeriodicalId":89592,"journal":{"name":"Journal of prenatal medicine","volume":"8 1-2","pages":"17-24"},"PeriodicalIF":0.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4186999/pdf/17-24.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32709661","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Six consecutive false positive cases from cell-free fetal DNA testing in a single referring centre.","authors":"N. Dugo, F. Padula, L. Mobili, C. Brizzi, L. D'emidio, P. Cignini, A. Mesoraca, D. Bizzoco, Antonella Cima, C. Giorlandino","doi":"10.11138/JPM/2014.8.1.031","DOIUrl":"https://doi.org/10.11138/JPM/2014.8.1.031","url":null,"abstract":"INTRODUCTION recent studies have proposed the introduction of cell-free fetal DNA testing (NIPT-Non Invasive Prenatal Testing) in routine clinical practice emphasizing its high sensibility and specificity. In any case, false positive and false negative findings may result from placental mosaicism, because cell-free fetal DNA originates mainly from placenta. CASE WE REPORT SIX CASES OF WOMEN WHO UNDERWENT CHORIONIC VILLUS SAMPLING (CVS) OR AMNIOCENTESIS TO CONFIRM THE RESULTS FROM NIPT: two Turner syndromes, two Triple X, one Patau syndrome, one Edward syndrome. RESULTS using classic cytogenetic analysis and, also, Array - Comparative Genomic Hybridization (Array CGH) the karyotype of all 5 fetuses was found to be normal. CONCLUSION results from NIPT must always be confirmed by invasive prenatal diagnosis. It is mandatory to inform the patient that the CVS and amniocentesis still represent the only form of prenatal diagnostic test available.","PeriodicalId":89592,"journal":{"name":"Journal of prenatal medicine","volume":"110 1","pages":"31-5"},"PeriodicalIF":0.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85345213","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Introducing the next generation sequencing in genomic amnio and villuos sampling. The so called \"Next Generation Prenatal Diagnosis\" (NGPD).","authors":"Claudio Giorlandino,&nbsp;Alvaro Mesoraca,&nbsp;Domenico Bizzoco,&nbsp;Claudio Dello Russo,&nbsp;Antonella Cima,&nbsp;Gianluca Di Giacomo,&nbsp;Pietro Cignini,&nbsp;Francesco Padula,&nbsp;Nella Dugo,&nbsp;Laura D'Emidio,&nbsp;Cristiana Brizzi,&nbsp;Raffaella Raffio,&nbsp;Vincenzo Milite,&nbsp;Lucia Mangiafico,&nbsp;Claudio Coco,&nbsp;Ornella Carcioppolo,&nbsp;Roberto Vigna,&nbsp;Marialuisa Mastrandrea,&nbsp;Luisa Mobili","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":89592,"journal":{"name":"Journal of prenatal medicine","volume":"8 1-2","pages":"1-10"},"PeriodicalIF":0.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4187001/pdf/1-10.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32709189","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of patients with defects in the globin genes.","authors":"D. Dell’Edera, A. Epifania, G. N. Milazzo, Manuela Leo, Carmela Santacesaria, A. Allegretti, E. Mazzone, Paolo Panetta, G. Iammarino, M. Lupo, R. Barbieri, M. B. Lioi","doi":"10.5430/JHM.V3N2P29","DOIUrl":"https://doi.org/10.5430/JHM.V3N2P29","url":null,"abstract":"INTRODUCTION\u0000hemoglobinopathies constitute a major health problem worldwide. These disorders are characterized by a clinical and hematological phenotypic heterogeneity. The increase of HbA2 is an invaluable hematological marker of the beta-thalassemia heterozygosis and of double heterozygosis for the alleles of delta and alpha globin genes or for the alleles of delta and beta globin genes which can cause the increase of HbA2 up to normal or borderline values.\u0000\u0000\u0000CASE REPORT\u0000we report the case of a 30-year-old woman (first pregnant) who was admitted to our Unit at 12 weeks for a screening for thalassemia. The outcomes of the biochemical and haematological exams (MCV, MCH, HbA2, HbF) highlighted that the patient was a carrier of a beta-thalassemic trait. Molecular analysis of the beta globin genes highlighted a β(0)39C>T heterozygous mutation. Biochemical and hematological parameters of the husband (MCV, MCH, HbA2, HbF) were normal except for the level of HbA2 (3,6%). The molecular analysis of the beta globin genes highlighted a IVS2 nt844 C>G heterozygous mutation. Furthermore, the heterozygous mutation δ(+)cod.27G>T was detected in his δ globin gene. For this reason, he was diagnosed a δ+β Thal.\u0000\u0000\u0000CONCLUSIONS\u0000the aim of this paper is to highlight that biochemical diagnosis could not exhaustive and a molecular diagnostic widening is required to detect the genetic deficiency causing the thalassemic trait.","PeriodicalId":89592,"journal":{"name":"Journal of prenatal medicine","volume":"26 1","pages":"47-50"},"PeriodicalIF":0.0,"publicationDate":"2013-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86632152","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sonographic diagnosis of fetal cardiac rhabdomyomas and cerebral tubers: a case report of prenatal Tuberous Sclerosis.","authors":"Enrico Colosi,&nbsp;Carlo Russo,&nbsp;Gabriele Macaluso,&nbsp;Rosalia Musone,&nbsp;Chiara Catalano","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Unlabelled: </strong>The rhabdomyoma constitutes more than 60% of all cardiac tumors that are diagnosed in the prenatal and postnatal age. In more than 50% of cases, it is the first clinical manifestation of tuberous sclerosis (TS), autosomal dominant genetic condition and multisystem involvement.</p><p><strong>Methods: </strong>we report a case of cardiac rabdomyomatosis in twin pregnancy bicorial biamniotic, with suspicion for tuberous sclerosis, diagnosed at our hospital. For the diagnosis of cardiac rhabdomyomas we used the two-dimensional ultrasound, and 3D echocardiography. For the diagnosis of intracranial subependymal nodules an ultrasound and RMN were used. Cesarean section was performed at 34 weeks. The diagnosis of tuberous sclerosis was confirmed at birth by genetic testing.</p><p><strong>Results: </strong>at birth, instrumental examinations have confirmed the ultrasonographic findings and genetic testing for the detection of tuberous sclerosis confirmed the suspected diagnosis. The cardiac lesions regressed spontaneously and the brain showed no progression.</p><p><strong>Conclusion: </strong>the study of the fetal heart ultrasound has allowed an early prenatal diagnosis of cardiac neoplasms, allowing control of their development and their association with other lesions which then actually appeared in the suspicion of a genetic disease much more complex than the Tuberous Sclerosis.</p>","PeriodicalId":89592,"journal":{"name":"Journal of prenatal medicine","volume":"7 4","pages":"51-5"},"PeriodicalIF":0.0,"publicationDate":"2013-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3931277/pdf/51-55.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40295389","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Significance of heterozygosis M34T mutation of GJB2 gene in non-syndromic congenital deafness. Retrospective analysis of 12,472 samples of amniotic fluid.","authors":"Manuela Coco,&nbsp;Fabrizio Salvinelli,&nbsp;Fabio Greco,&nbsp;Maurizio Trivelli,&nbsp;Laura D'Emidio,&nbsp;Alvaro Mesoraca,&nbsp;Claudio Giorlandino,&nbsp;Raffaella Raffio,&nbsp;Claudio Coco","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>to determinate the role of heterozygosis of M34T mutation of GJB2 gene in non syndromic congenital deafness.</p><p><strong>Methods: </strong>retrospective study between March 2010 and June 2013. Molecular screening for 35delG and M34T mutations of the GJB2 gene was offered to all women undergoing to second trimester genetic amniocentesis. Patients were excluded from the study group if one of the following conditions were present: infections, fetal abnormalities, family history for congenital deafness, diagnosis of chromosomal abnormalities, and consanguinity between parents.</p><p><strong>Results: </strong>a total of 12.472 Caucasian women gave informed consent for this test. Seventy-seven cases were excluded. From the 12.395 amniotic fluid analysis remained, the following was found: 2 cases of 35delG homozygosis and 352 cases of heterozygous carriers (42 M34T mutation, 298 35delG mutation, 12 double heterozygosis M34T/35delG). The follow up in first year of life in the 42 newborns with heterozygosis for M34T mutation showed a mild deafness in 23 cases.</p><p><strong>Conclusions: </strong>in our series, presence of heterozygosis M34T mutation is associated in more than 50% of cases to mild congenital deafness.</p>","PeriodicalId":89592,"journal":{"name":"Journal of prenatal medicine","volume":"7 4","pages":"56-8"},"PeriodicalIF":0.0,"publicationDate":"2013-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3931280/pdf/56-58.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40295392","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of patients with defects in the globin genes.","authors":"Domenico Dell'edera,&nbsp;Annunziata Anna Epifania,&nbsp;Giusi Natalia Milazzo,&nbsp;Manuela Leo,&nbsp;Carmela Santacesaria,&nbsp;Arianna Allegretti,&nbsp;Eleonora Mazzone,&nbsp;Paolo Panetta,&nbsp;Giovanna Iammarino,&nbsp;Maria Giovanna Lupo,&nbsp;Rocchina Barbieri,&nbsp;Maria Brigida Lioi","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Introduction: </strong>hemoglobinopathies constitute a major health problem worldwide. These disorders are characterized by a clinical and hematological phenotypic heterogeneity. The increase of HbA2 is an invaluable hematological marker of the beta-thalassemia heterozygosis and of double heterozygosis for the alleles of delta and alpha globin genes or for the alleles of delta and beta globin genes which can cause the increase of HbA2 up to normal or borderline values.</p><p><strong>Case report: </strong>we report the case of a 30-year-old woman (first pregnant) who was admitted to our Unit at 12 weeks for a screening for thalassemia. The outcomes of the biochemical and haematological exams (MCV, MCH, HbA2, HbF) highlighted that the patient was a carrier of a beta-thalassemic trait. Molecular analysis of the beta globin genes highlighted a β(0)39C>T heterozygous mutation. Biochemical and hematological parameters of the husband (MCV, MCH, HbA2, HbF) were normal except for the level of HbA2 (3,6%). The molecular analysis of the beta globin genes highlighted a IVS2 nt844 C>G heterozygous mutation. Furthermore, the heterozygous mutation δ(+)cod.27G>T was detected in his δ globin gene. For this reason, he was diagnosed a δ+β Thal.</p><p><strong>Conclusions: </strong>the aim of this paper is to highlight that biochemical diagnosis could not exhaustive and a molecular diagnostic widening is required to detect the genetic deficiency causing the thalassemic trait.</p>","PeriodicalId":89592,"journal":{"name":"Journal of prenatal medicine","volume":"7 4","pages":"47-50"},"PeriodicalIF":0.0,"publicationDate":"2013-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3931278/pdf/47-50.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40295388","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Case report of prenatal diagnosis of Stüve-Wiedemann Syndrome in a woman with another child affected too.","authors":"A. Catavorello, S. Vitale, D. Rossetti, L. Caldaci, M. Panella","doi":"10.11138/JPM/2013.7.3.035","DOIUrl":"https://doi.org/10.11138/JPM/2013.7.3.035","url":null,"abstract":"OBJECTIVE\u0000Stüve-Wiedemann Syndrome (SWS; MIM 601 559) is an autosomal-recessive syndrome characterized by myotonia with mask-like face, skeletal dysplasia and intrauterine growth restriction. Other clinical findings are pursed mouth, hypoplastic midface, congenital contractures and muscular hypotonia. We discuss about the importance of prenatal diagnosis in SWS and the possibility of survival after the first year of life in patients suffering from this disease.\u0000\u0000\u0000METHODS\u0000we report a case of Stüve-Wiedemann Syndrome detected by morphological examination in our Operative Unit. Prenatal presumptive diagnosis was given with two-dimensional and 3-D probe, during the second trimester of pregnancy. Caesarean section was performed at 38(th) week of gestation. Then diagnosis was genetically performed.\u0000\u0000\u0000RESULTS\u0000at birth, clinical examination was concordant with the ultrasound findings. Genetic analysis also confirmed the presumptive diagnosis. Episodes of respiratory distress and hyperthermia decreased until it disappeared altogether at 1 year of age.\u0000\u0000\u0000CONCLUSION\u0000we underline the usefulness of ultrasound study of fetal skeleton in the prenatal diagnosis. It allowed us to do an early detection of birth defects and their appropriate management.","PeriodicalId":89592,"journal":{"name":"Journal of prenatal medicine","volume":"10 1","pages":"35-8"},"PeriodicalIF":0.0,"publicationDate":"2013-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85445837","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prenatal diagnosis of giant cardiac rhabdomyoma with fetal hydrops in tuberous sclerosis.","authors":"Frederike Schlaegel, Z. Takacs, E. Solomayer, H. Abdul-Kaliq, G. Meyberg-Solomayer","doi":"10.11138/JPM/2013.7.3.039","DOIUrl":"https://doi.org/10.11138/JPM/2013.7.3.039","url":null,"abstract":"INTRODUCTION\u0000fetal rhabdomyoma is the most common fetal cardiac tumor and is often associated with tuberous sclerosis. Usually the tumors are relatively small and show no mediastinal shift. Fetal hydrops and pericardial effusion are rarely seen.\u0000\u0000\u0000CASE\u0000in this case report we present the neonatal clinical course of a case of prenatal diagnosis of giant cardiac rhabdomyomas.\u0000\u0000\u0000CONCLUSION\u0000an early prenatal diagnosis may help for an adequate planning of perinatal monitoring and treatment with involvement of a multidisciplinary team.","PeriodicalId":89592,"journal":{"name":"Journal of prenatal medicine","volume":"517 1","pages":"39-41"},"PeriodicalIF":0.0,"publicationDate":"2013-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80368256","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prenatal diagnosis of giant cardiac rhabdomyoma with fetal hydrops in tuberous sclerosis.","authors":"Frederike Schlaegel,&nbsp;Zoltan Takacs,&nbsp;Erich Franz Solomayer,&nbsp;Hashim Abdul-Kaliq,&nbsp;Gabriele Meyberg-Solomayer","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Introduction: </strong>fetal rhabdomyoma is the most common fetal cardiac tumor and is often associated with tuberous sclerosis. Usually the tumors are relatively small and show no mediastinal shift. Fetal hydrops and pericardial effusion are rarely seen.</p><p><strong>Case: </strong>in this case report we present the neonatal clinical course of a case of prenatal diagnosis of giant cardiac rhabdomyomas.</p><p><strong>Conclusion: </strong>an early prenatal diagnosis may help for an adequate planning of perinatal monitoring and treatment with involvement of a multidisciplinary team.</p>","PeriodicalId":89592,"journal":{"name":"Journal of prenatal medicine","volume":"7 3","pages":"39-41"},"PeriodicalIF":0.0,"publicationDate":"2013-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3808940/pdf/39-41.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40280238","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}