Journal of prenatal medicine最新文献_第2页

Conservative management in a case of uncomplicated trap sequence: a case report and brief literature review. 一例无并发症陷阱序列的保守治疗：病例报告和简要文献综述。

Journal of prenatal medicine Pub Date : 2015-07-01 DOI: 10.11138/jpm/2015.9.3.029

Franco Pepe, Maria Cristina Teodoro, Carlo Luca, Francesca Privitera

{"title":"Conservative management in a case of uncomplicated trap sequence: a case report and brief literature review.","authors":"Franco Pepe, Maria Cristina Teodoro, Carlo Luca, Francesca Privitera","doi":"10.11138/jpm/2015.9.3.029","DOIUrl":"10.11138/jpm/2015.9.3.029","url":null,"abstract":"Introduction: twin reversed arterial perfusion (TRAP) sequence is a rare anomaly that occurs in monochorionic twins with overall mortality rate ranging from 50% to 70% in the normal fetus, above all for congestive cardiac failure.Case report: a 31-year-old Caucasian gravida was referred to our fetomaternal medicine unit in the 25 gestational age. Ultrasound examination revealed a monochorionic, biamniotic twin pregnancy with a donor fetus showing normal morphology and growth corresponding to gestational age. The recipient twin appeared grossly abnormal with no head, upper limbs, heart, or thoracic structures and massive, diffuse, soft tissue edema. Fetal Doppler and fetal echocardiography revealed normal parameters. The patient refused any treatment and was monitored with weekly ultrasonography and Doppler ultrasound examination. She underwent cesarean section due to premature labor/rupture of membranes secondary to a mild polyhydramnios, at 36 weeks gestational age and delivered an apparent normal female live baby weighing 2550 gr, and another female acardius acephalus twin, birth weight 1300 gr. This baby had rudimental edematous lower limbs, pelvic bone, lower sacral vertebrae, and absence of thorax and cephalic structures.Conclusion: although the literature suggest that early intrafetal laser treatment of TRAP sequence is advantageous, our case shows that pregnancies referred late would still require a tailored approach after a risk-benefit assessment.","PeriodicalId":89592,"journal":{"name":"Journal of prenatal medicine","volume":"9 3-4","pages":"29-34"},"PeriodicalIF":0.0,"publicationDate":"2015-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4909109/pdf/29-34.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34525897","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}

引用次数: 0

Alpha-fetoprotein and its value for predicting pregnancy outcomes - a re-evaluation. 甲胎蛋白及其预测妊娠结局的价值——再评价。

Journal of prenatal medicine Pub Date : 2015-07-01 DOI: 10.11138/jpm/2015.9.3.018

Ayham Alhaj Darouich, Thomas Liehr, Anja Weise, Dietmar Schlembach, Ekkehart Schleußner, Michael Kiehntopf, Isolde Schreyer

{"title":"Alpha-fetoprotein and its value for predicting pregnancy outcomes - a re-evaluation.","authors":"Ayham Alhaj Darouich, Thomas Liehr, Anja Weise, Dietmar Schlembach, Ekkehart Schleußner, Michael Kiehntopf, Isolde Schreyer","doi":"10.11138/jpm/2015.9.3.018","DOIUrl":"https://doi.org/10.11138/jpm/2015.9.3.018","url":null,"abstract":"Introduction: Alpha-fetoprotein (AFP) concentrations can be determined framing others from invasively acquired amnion fluid (AF-AFP). While the biological role of AFP remains unclear it is well known that AFP-levels can be altered in connection with specific clinical and/or genetic alterations of the fetus.Materials and method: here a retrospective study based on 3,119 singleton and 56 twin pregnancies is presented. The standard levels of amnion fluid derived alpha-fetoprotein level (AF-AFP) between 12th and 36th weeks of gestation were determined. Additionally, acetylcholinesterase (AChE) test results for 63 cases, ultrasonography results for 32 cases and abnormal karyotypic findings for 100 cases were available for selected cases.Results and discussion: according to the present data the AF-AFP test is reliable and provides expected test results in terms of population studies. However, individual AF-AFP test results can be subject to high individual variations. In this study AF-AFP multiple of medians (MoM) over 1.7 were indicative for neuronal tube defects and/or omphalocele in only 6.3% of the cases, while such AF-AFP values were hints on severe sonographic signs in 62% of the cases. Also, altered AF-AFP concentrations were present in 82% of cytogenetically abnormal cases. Overall, even though predicative value of the AF-AFP-test is matter of discussion it continues to be widely applied in invasive prenatal diagnostics. This study indicates that it only can be applied reliably in combination with other tests like banding cytogenetics, ultrasonography and all embedded in well-established genetic counseling.","PeriodicalId":89592,"journal":{"name":"Journal of prenatal medicine","volume":"9 3-4","pages":"18-23"},"PeriodicalIF":0.0,"publicationDate":"2015-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4909107/pdf/18-23.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34525893","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}

引用次数: 6

A new case of interstitial 1q 25.3-32.1 deletion: cytogenetic analysis molecular characterization and ultrasound findings. 1例间质1q25.3 -32.1缺失:细胞遗传学分析、分子特征及超声表现。

Journal of prenatal medicine Pub Date : 2015-01-01 DOI: 10.11138/jpm/2015.9.1.008

F. Libotte, D. Bizzoco, I. Gabrielli, Caterina Tamburrino, C. Ernandez, L. Carpineto, Maria Pia D'Aleo, Antonella Cima, A. Mesoraca, P. Cignini, A. Aloisi, R. Angioli, S. Vitale, C. Giorlandino

引用次数: 2

Supplementation with a dietary multicomponent (Lafergin(®)) based on Ferric Sodium EDTA (Ferrazone(®)): results of an observational study. 以EDTA铁钠(Ferrazone(®))为基础的膳食多组分(Lafergin(®))的补充:一项观察性研究的结果。

Journal of prenatal medicine Pub Date : 2015-01-01 DOI: 10.11138/jpm/2015.9.1.001

P. Cignini, L. Mangiafico, F. Padula, L. D'emidio, N. Dugo, A. Aloisi, C. Giorlandino, S. Vitale

引用次数: 11

A comparison between amniotic fluid index and the single deepest vertical pocket technique in predicting adverse outcome in prolonged pregnancy. 羊水指数与单最深垂直袋技术预测长时间妊娠不良结局的比较。

Journal of prenatal medicine Pub Date : 2015-01-01 DOI: 10.11138/jpm/2015.9.1.012

P. Rosati, L. Guariglia, A. Cavaliere, P. Ciliberti, S. Buongiorno, A. Ciardulli, S. Cianci, S. Vitale, P. Cignini, I. Mappa

{"title":"A comparison between amniotic fluid index and the single deepest vertical pocket technique in predicting adverse outcome in prolonged pregnancy.","authors":"P. Rosati, L. Guariglia, A. Cavaliere, P. Ciliberti, S. Buongiorno, A. Ciardulli, S. Cianci, S. Vitale, P. Cignini, I. Mappa","doi":"10.11138/jpm/2015.9.1.012","DOIUrl":"https://doi.org/10.11138/jpm/2015.9.1.012","url":null,"abstract":"OBJECTIVE to compare perinatal outcome in induced postterm pregnancies with normal amniotic volume and in patients with prolonged pregnancy undergone induction for oligohydramnios, evaluated by two different ultrasonographic methods. METHODS amniotic fluid volume was measured, using Single Deepest Vertical Pocket (SDVP) and Amniotic Fluid Index (AFI), in 961 singleton uncomplicated prolonged pregnancies. In 109 of these patients, hospitalization was planned for induction of labor, during or after 42 weeks of gestation, for oligohydramnios, postterm pregnancy and other indications in 47, 51 and 11 cases, respectively. Perinatal outcome included: rate of caesarean section, fetal distress, non reassuring fetal heart tracing, presence of meconium, umbilical artery pH < 7.1, Apgar score at 5 minutes < 7, admission to neonatal intensive care unit (NICU). RESULTS oligohydramnios was diagnosed in 4.89% of cases, when at least one of the two methods was used. A reduced AFI and SDVP value identified 4.47% and 3.75% of cases, respectively, even if without statistical difference. No statistical differences were reported in perinatal outcomes in postterm versus prolonged pregnancies with oligohydramnios, also in relation to the two different ultrasonographic methods. CONCLUSIONS oligohydramnios is more frequently diagnosed using AFI than SDVP, consequently determining a higher rate of induction of labor. Moreover, perinatal outcome in prolonged induced pregnancies is not affected by oligohydramnios.","PeriodicalId":89592,"journal":{"name":"Journal of prenatal medicine","volume":"4 1","pages":"12-5"},"PeriodicalIF":0.0,"publicationDate":"2015-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86553307","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}

引用次数: 25

Ultrasound prenatal diagnosis of congenital primary aphakia: case report. 先天性原发性无晶状体的超声产前诊断1例。

Journal of prenatal medicine Pub Date : 2015-01-01 DOI: 10.11138/jpm/2015.9.1.016

Filippo Di Meglio, C. Vascone, Letizia Di Meglio, L. Turco, S. Vitale, P. Cignini, G. Valenti, F. Gulino, A. Rapisarda, S. Cianci

引用次数: 2

Retrospective study evaluating the performance of a first-trimester combined screening for trisomy 21 in an Italian unselected population. 回顾性研究评估在意大利未选择人群中妊娠早期联合筛查21三体的表现。

Journal of prenatal medicine Pub Date : 2014-04-01

Francesco Padula, Pietro Cignini, Diana Giannarelli, Cristiana Brizzi, Claudio Coco, Laura D'Emidio, Elsa Giorgio, Maurizio Giorlandino, Lucia Mangiafico, Marialuisa Mastrandrea, Vincenzo Milite, Luisa Mobili, Cinzia Nanni, Raffaella Raffio, Cinzia Taramanni, Roberto Vigna, Alvaro Mesoraca, Domenico Bizzoco, Ivan Gabrielli, Gianluca Di Giacomo, Maria Antonietta Barone, Antonella Cima, Francesca Romana Giorlandino, Sabrina Emili, Marina Cupellaro, Claudio Giorlandino

{"title":"Retrospective study evaluating the performance of a first-trimester combined screening for trisomy 21 in an Italian unselected population.","authors":"Francesco Padula, Pietro Cignini, Diana Giannarelli, Cristiana Brizzi, Claudio Coco, Laura D'Emidio, Elsa Giorgio, Maurizio Giorlandino, Lucia Mangiafico, Marialuisa Mastrandrea, Vincenzo Milite, Luisa Mobili, Cinzia Nanni, Raffaella Raffio, Cinzia Taramanni, Roberto Vigna, Alvaro Mesoraca, Domenico Bizzoco, Ivan Gabrielli, Gianluca Di Giacomo, Maria Antonietta Barone, Antonella Cima, Francesca Romana Giorlandino, Sabrina Emili, Marina Cupellaro, Claudio Giorlandino","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: to assess the performance of a combined first-trimester screening for trisomy 21 in an unselected Italian population referred to a specialized private center for prenatal medicine.Methods: a retrospective validation of first-trimester screening algorithms [risk calculation based on maternal age and nuchal translucency (NT) alone, maternal age and serum parameters (free β-hCG and PAPP-A) alone and a combination of both] for fetal aneuploidies evaluated in an unselected Italian population at Artemisia Fetal-Maternal Medical Centre in Rome. All measurements were performed between 11(+0) and 13(+6) weeks of gestation, between April 2007 and December 2008.Results: of 3,610 single fetuses included in the study, we had a complete follow-up on 2,984. Fourteen of 17 cases of trisomy 21 were detected when a cut-off of 1:300 was applied [detection rate (DR) 82.4%, 95% confidence interval (CI) 64.2-100; false-positive rate (FPR) 4.7%, 95% CI 3.9-5.4; false-negative rate (FNR) 17.6%, 95% CI 0-35.8%].Conclusion: in our study population the detection rate for trisomy 21, using the combined risk calculation based on maternal age, fetal NT, maternal PAPP-A and free β-hCG levels, was superior to the application of either parameter alone. The algorithm has been validated for first trimester screening in the Italian population.","PeriodicalId":89592,"journal":{"name":"Journal of prenatal medicine","volume":"8 3-4","pages":"50-6"},"PeriodicalIF":0.0,"publicationDate":"2014-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4510564/pdf/50-56.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33982395","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}

引用次数: 0

Antenatal diagnosis of Seckel Syndrome: a rare case report. 塞克尔综合征的产前诊断:罕见病例报告。

Journal of prenatal medicine Pub Date : 2014-04-01

Carmine Vascone, Filippo Di Meglio, Letizia Di Meglio, Luigi Carlo Lo Turco, Salvatore Giovanni Vitale, Pietro Cignini, Ilaria Marilli, Agnese Maria Chiara Rapisarda, Gaetano Valenti, Stefano Cianci

引用次数: 0

Comparative study of aCGH and Next Generation Sequencing (NGS) for chromosomal microdeletion and microduplication screening. aCGH和下一代测序(NGS)用于染色体微缺失和微重复筛查的比较研究。

Journal of prenatal medicine Pub Date : 2014-04-01 DOI: 10.4172/2165-7920.1000455

C. D. Russo, Gianluca Di Giacomo, P. Cignini, F. Padula, L. Mangiafico, A. Mesoraca, L. D'emidio, Megan R McCluskey, Arianna Paganelli, C. Giorlandino

{"title":"Comparative study of aCGH and Next Generation Sequencing (NGS) for chromosomal microdeletion and microduplication screening.","authors":"C. D. Russo, Gianluca Di Giacomo, P. Cignini, F. Padula, L. Mangiafico, A. Mesoraca, L. D'emidio, Megan R McCluskey, Arianna Paganelli, C. Giorlandino","doi":"10.4172/2165-7920.1000455","DOIUrl":"https://doi.org/10.4172/2165-7920.1000455","url":null,"abstract":"BACKGROUND\u0000prenatal genetic diagnosis of rare disorders is undergoing in recent years a significant enhancement through the application of methods of massive parallel sequencing. Despite the quantity and quality of the data produced, just few analytical tools and software have been developed in order to identify structural and numerical chromosomal anomalies through NGS, mostly not compatible with benchtop NGS platform and routine clinical diagnosis.\u0000\u0000\u0000METHODS\u0000we developed technical, bioinformatic, interpretive and validation pipelines for Next Generation Sequencing to identify SNPs, indels, aneuploidies, and CNVs (Copy Number Variations).\u0000\u0000\u0000RESULTS\u0000we show a new targeted resequencing approach applied to prenatal diagnosis. For sample processing we used an enrichment method for 4,813 genes library preparation; after sequencing our bioinformatic pipelines allowed both SNPs analysis for approximately thirty diseases or diseases family involved in fetus development and numerical chromosomal anomalies screening.\u0000\u0000\u0000CONCLUSIONS\u0000results obtained are compatible with those obtained through the gold standard technique, aCGH array, moreover allowing identification of genes involved in chromosome deletions or duplications and exclusion of point mutation on allele not affected by chromosome aberrations.","PeriodicalId":89592,"journal":{"name":"Journal of prenatal medicine","volume":"234 1","pages":"57-69"},"PeriodicalIF":0.0,"publicationDate":"2014-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76111999","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}

引用次数: 19

Comparative study of aCGH and Next Generation Sequencing (NGS) for chromosomal microdeletion and microduplication screening. aCGH和下一代测序(NGS)用于染色体微缺失和微重复筛查的比较研究。

Journal of prenatal medicine Pub Date : 2014-04-01

Claudio Dello Russo, Gianluca Di Giacomo, Pietro Cignini, Francesco Padula, Lucia Mangiafico, Alvaro Mesoraca, Laura D'Emidio, Megan R McCluskey, Arianna Paganelli, Claudio Giorlandino

{"title":"Comparative study of aCGH and Next Generation Sequencing (NGS) for chromosomal microdeletion and microduplication screening.","authors":"Claudio Dello Russo, Gianluca Di Giacomo, Pietro Cignini, Francesco Padula, Lucia Mangiafico, Alvaro Mesoraca, Laura D'Emidio, Megan R McCluskey, Arianna Paganelli, Claudio Giorlandino","doi":"","DOIUrl":"","url":null,"abstract":"Background: prenatal genetic diagnosis of rare disorders is undergoing in recent years a significant enhancement through the application of methods of massive parallel sequencing. Despite the quantity and quality of the data produced, just few analytical tools and software have been developed in order to identify structural and numerical chromosomal anomalies through NGS, mostly not compatible with benchtop NGS platform and routine clinical diagnosis.Methods: we developed technical, bioinformatic, interpretive and validation pipelines for Next Generation Sequencing to identify SNPs, indels, aneuploidies, and CNVs (Copy Number Variations).Results: we show a new targeted resequencing approach applied to prenatal diagnosis. For sample processing we used an enrichment method for 4,813 genes library preparation; after sequencing our bioinformatic pipelines allowed both SNPs analysis for approximately thirty diseases or diseases family involved in fetus development and numerical chromosomal anomalies screening.Conclusions: results obtained are compatible with those obtained through the gold standard technique, aCGH array, moreover allowing identification of genes involved in chromosome deletions or duplications and exclusion of point mutation on allele not affected by chromosome aberrations.","PeriodicalId":89592,"journal":{"name":"Journal of prenatal medicine","volume":"8 3-4","pages":"57-69"},"PeriodicalIF":0.0,"publicationDate":"2014-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4510565/pdf/57-69.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33982397","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}

引用次数: 0