Journal of prenatal medicine最新文献_第5页

Prenatal diagnosis of spinal muscular atrophy: clinical experience and molecular genetics of SMN gene analysis in 36 cases. 36例脊髓性肌萎缩症产前诊断的临床经验及SMN基因的分子遗传学分析。

Journal of prenatal medicine Pub Date : 2013-07-01 DOI: 10.11138/JPM/2013.7.3.032

M. Khaniani, S. M. Derakhshan, S. Abasalizadeh

引用次数: 11

Effect of vaginally administered DHA fatty acids on pregnancy outcome in high risk pregnancies for preterm delivery: a double blinded randomised controlled trial. 阴道给予DHA脂肪酸对高危妊娠早产妊娠结局的影响:一项双盲随机对照试验

Journal of prenatal medicine Pub Date : 2013-07-01

Claudio Giorlandino, Diana Giannarelli

{"title":"Effect of vaginally administered DHA fatty acids on pregnancy outcome in high risk pregnancies for preterm delivery: a double blinded randomised controlled trial.","authors":"Claudio Giorlandino, Diana Giannarelli","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: to verify whether vaginally intake of docosahexaenoic acid (DHA), an n-3 long chain polyunsaturated fatty acid, would improve length of gestation and newborn birth weight in high risk pregnancies for preterm delivery.Methods: this study was a randomized, double-blind, controlled, clinical trial, including women at high risk for preterm delivery. Of 74 eligible women, 31 refused to participate and 34 were enrolled and randomized with equal chance of selection, 22 were assigned to treatment group and 21 were assigned to the control group, and received placebo. One gram of DHA was administered vaginally once a day starting from 21 (1 week of gestation until 37 weeks + 0 day). The primary endpoint was to determine the length of the pregnancy and secondary endpoint the newborn weight.Results: gestational age at delivery was 38.6 (SD, 1.05) weeks in the docosahexaenoic acid group and 37.6 (SD, 0.84) weeks in the placebo group (P =0.007). For women who completed the treatment and delivered at term there was a statistically difference of the weights in the two groups [3082.1 (SD, 293) gr cases vs 2699.3 (SD, 150) gr controls P <0.0001].Conclusion: in high risk patients for preterm delivery, the vaginal administration of a DHA increases length of gestation and newborn birth weight.","PeriodicalId":89592,"journal":{"name":"Journal of prenatal medicine","volume":"7 3","pages":"42-5"},"PeriodicalIF":0.0,"publicationDate":"2013-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3808943/pdf/42-45.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40280239","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

Case report of prenatal diagnosis of Stüve-Wiedemann Syndrome in a woman with another child affected too. 有另一个孩子也患有st<s:1> ve- wiedemann综合征的妇女产前诊断的病例报告。

Journal of prenatal medicine Pub Date : 2013-07-01

Anita Catavorello, Salvatore Giovanni Vitale, Diego Rossetti, Lisa Caldaci, Marco Marzio Panella

{"title":"Case report of prenatal diagnosis of Stüve-Wiedemann Syndrome in a woman with another child affected too.","authors":"Anita Catavorello, Salvatore Giovanni Vitale, Diego Rossetti, Lisa Caldaci, Marco Marzio Panella","doi":"","DOIUrl":"","url":null,"abstract":"Objective: Stüve-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.Methods: we 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.Results: at 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.Conclusion: we 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":"7 3","pages":"35-8"},"PeriodicalIF":0.0,"publicationDate":"2013-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3808941/pdf/35-38.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40280237","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

Effect of vaginally administered DHA fatty acids on pregnancy outcome in high risk pregnancies for preterm delivery: a double blinded randomised controlled trial. 阴道给予DHA脂肪酸对高危妊娠早产妊娠结局的影响:一项双盲随机对照试验

Journal of prenatal medicine Pub Date : 2013-07-01 DOI: 10.11138/JPM/2013.7.3.042

C. Giorlandino, D. Giannarelli

{"title":"Effect of vaginally administered DHA fatty acids on pregnancy outcome in high risk pregnancies for preterm delivery: a double blinded randomised controlled trial.","authors":"C. Giorlandino, D. Giannarelli","doi":"10.11138/JPM/2013.7.3.042","DOIUrl":"https://doi.org/10.11138/JPM/2013.7.3.042","url":null,"abstract":"OBJECTIVES\u0000to verify whether vaginally intake of docosahexaenoic acid (DHA), an n-3 long chain polyunsaturated fatty acid, would improve length of gestation and newborn birth weight in high risk pregnancies for preterm delivery.\u0000\u0000\u0000METHODS\u0000this study was a randomized, double-blind, controlled, clinical trial, including women at high risk for preterm delivery. Of 74 eligible women, 31 refused to participate and 34 were enrolled and randomized with equal chance of selection, 22 were assigned to treatment group and 21 were assigned to the control group, and received placebo. One gram of DHA was administered vaginally once a day starting from 21 (1 week of gestation until 37 weeks + 0 day). The primary endpoint was to determine the length of the pregnancy and secondary endpoint the newborn weight.\u0000\u0000\u0000RESULTS\u0000gestational age at delivery was 38.6 (SD, 1.05) weeks in the docosahexaenoic acid group and 37.6 (SD, 0.84) weeks in the placebo group (P =0.007). For women who completed the treatment and delivered at term there was a statistically difference of the weights in the two groups [3082.1 (SD, 293) gr cases vs 2699.3 (SD, 150) gr controls P <0.0001].\u0000\u0000\u0000CONCLUSION\u0000in high risk patients for preterm delivery, the vaginal administration of a DHA increases length of gestation and newborn birth weight.","PeriodicalId":89592,"journal":{"name":"Journal of prenatal medicine","volume":"135 1","pages":"42-5"},"PeriodicalIF":0.0,"publicationDate":"2013-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85268489","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: 15

Prenatal diagnosis of spinal muscular atrophy: clinical experience and molecular genetics of SMN gene analysis in 36 cases. 36例脊髓性肌萎缩症产前诊断的临床经验及SMN基因的分子遗传学分析。

Journal of prenatal medicine Pub Date : 2013-07-01

Mahmoud Shekari Khaniani, Sima Mansoori Derakhshan, Shamsei Abasalizadeh

引用次数: 0

Sjögren's syndrome associated with antiphospholipid syndrome and fetal myocardial echogenicity: case report. Sjögren综合征与抗磷脂综合征和胎儿心肌回声变性相关:1例报告。

Journal of prenatal medicine Pub Date : 2013-04-01

Annamaria Giacobbe, Roberta Grasso, Grazia Foti, Maria Lieta Interdonato, Alfredo Mancuso

引用次数: 0

Marfan's syndrome and pregnancy: a good maternal and fetal outcome. 马凡氏综合征与妊娠:良好的母胎结局。

Journal of prenatal medicine Pub Date : 2013-04-01

Simona Carboni, Roberta Capucci, Elena Pivato, Alice Poggi, Alfredo Patella

{"title":"Marfan's syndrome and pregnancy: a good maternal and fetal outcome.","authors":"Simona Carboni, Roberta Capucci, Elena Pivato, Alice Poggi, Alfredo Patella","doi":"","DOIUrl":"","url":null,"abstract":"Introduction: this case report highlights the important role of a multidisciplinary team's task in the care of pregnant women with Marfan's syndrome (MFS), a systemic disorder of connective tissue that is transmitted as an autosomal dominant trait.Case: a 42 year-old italian pregnant woman with Marfan's syndrome and degenerative heart disease (aneurysmatic dilatation of the aortic root, mitral regurgitation and prosthetic mitralic valve) was clinically assessed jointly by an obstetrician and a cardiologist, 'the obstetric team specialised in management of high risk pregnancy', every 2-3 weeks from the 21(th) week of gestation. The first ambulatory monitoring echocardiography revelead aneurysmatic dilatation of the aortic root (41 mm), good function of the previously replaced mitral valve, cardiac ejection fraction 51% and telediastolic volume 116 ml. The echocardiographies showed no changes up to 32 weeks gestation. At the 34(th) week of gestation she had a slight decrease in cardiac ejection fraction and minimal increase of left ventricular diastolic volume. Therefore she underwent elective cesarean section under general anesthesia at 35 weeks' gestation. The postpartum course was uneventfull for the patient and the baby.Conclusion: pregnant women with heart disease benefit from an appropriate antenatal management, which may result in a favourable outcome.","PeriodicalId":89592,"journal":{"name":"Journal of prenatal medicine","volume":"7 2","pages":"21-4"},"PeriodicalIF":0.0,"publicationDate":"2013-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3755791/pdf/21-24.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31695429","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

Position Statement from the Italian College of Fetal Maternal Medicine: Non-invasive prenatal testing (NIPT) by maternal plasma DNA sequencing. 意大利胎儿母医学学院的立场声明:通过母体血浆DNA测序进行无创产前检测(NIPT)。

Journal of prenatal medicine Pub Date : 2013-04-01

引用次数: 0

Improvement in uterine artery doppler indices via hysteroscopic metroplasty. 宫腔镜子宫成形术对子宫动脉多普勒指数的改善。

Journal of prenatal medicine Pub Date : 2013-04-01

Sebastiano Pace, Albana Cerekja, Kathleen Comalli Dillon, Giulia Pace, Juan Piazze

{"title":"Improvement in uterine artery doppler indices via hysteroscopic metroplasty.","authors":"Sebastiano Pace, Albana Cerekja, Kathleen Comalli Dillon, Giulia Pace, Juan Piazze","doi":"","DOIUrl":"","url":null,"abstract":"Objective: the objective of our research was to study uterine artery doppler indices and their evolution over time after metroplasty and subsequent pregnancy in patients whose septate uterus was the only explanation for infertility.Materials and methods: a retrospective study. The uterine arteries of 78 patients with septate uteri were evaluated using endovaginal color doppler ultrasound before and after metroplasty. Fifty-one patients became pregnant after metroplasty and were selected as study group, pregnancy occurred within 17 months. By comparing uterine artery doppler indices before and after metroplasty, we observed that the resistive index (RI) and pulsatility index (PI) post surgery were significantly lower compared to premetroplasty levels.Results: all pregnant women in the study group showed uterine resistive indexes within normal ranges, they all underwent scheduled cesarean in-tervention. Gestational evolution was normal in all patients (mean score of Apgar and birth weight); no neonatal complications were observed.Conclusion: metroplastic intervention in women with septate uterus as the sole cause of infertility may be a plausible alternative for patients wishing to carry a pregnancy.","PeriodicalId":89592,"journal":{"name":"Journal of prenatal medicine","volume":"7 2","pages":"25-8"},"PeriodicalIF":0.0,"publicationDate":"2013-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3755794/pdf/25-28.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31695430","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

Increased nuchal translucency and short femur length as possible early signs of osteogenesis imperfecta type III. 颈部透明度增加和股骨长度短可能是成骨不全III型的早期症状。

Journal of prenatal medicine Pub Date : 2013-01-01 DOI: 10.11138/JPM/2013.7.1.005

A. Vimercati, M. Panzarino, I. Totaro, A. Chincoli, L. Selvaggi

{"title":"Increased nuchal translucency and short femur length as possible early signs of osteogenesis imperfecta type III.","authors":"A. Vimercati, M. Panzarino, I. Totaro, A. Chincoli, L. Selvaggi","doi":"10.11138/JPM/2013.7.1.005","DOIUrl":"https://doi.org/10.11138/JPM/2013.7.1.005","url":null,"abstract":"OBJECTIVE this paper reports an association between an increased Nuchal Translucency (NT) and Osteogenesis Imperfecta (OI), a type of skeletal dysplasia. Measurement of fetal NT at 10-14 weeks of gestation is a sensitive and effective screening method for chromosomal abnormalities. METHODS a 35-year- old Caucasian woman in her fourth pregnancy was referred to our clinic for an ultrasound scan at 12 weeks of gestation, that confirmed increased Nuchal Translucency. Chorionic villi sampling was performed, showing a normal karyotype. The patient was evaluated by a team of experienced ultra sonographers for pregnancy follow-up at our Department, that is a tertiary center. RESULTS in our case the ultrasound scan at 12 week of gestation revealed only an increased NT (3 mm). Cytogenetic analysis on chorionic villi demonstrated a normal male karyotype. US follow-up, performed every 3-4 weeks, confirmed normal anthropometric parameters except for shortening of both femurs, but at 23 weeks an incorrect attitude of the feet was revealed. A clinical and radiographic diagnosis of OI type III was made only at birth, and through follow-up continuing to date. DISCUSSION NT screening was successful for chromosomal abnormalities at 11-14 weeks of gestation. An increased NT thickness is also associated with numerous fetal anomalies and genetic syndromes in a chromosomally normal fetus. In our case there were no sonographic signs of imperfect osteogenesis in the first trimester, although there was an increased NT with a normal karyotype. CONCLUSION currently, in literature, there are not other cases of OI type III associated with an increased NT. Our report is the first to suggest an association between an increased nuchal translucency, short femur length and osteogenesis imperfecta type III.","PeriodicalId":89592,"journal":{"name":"Journal of prenatal medicine","volume":"35 1","pages":"5-8"},"PeriodicalIF":0.0,"publicationDate":"2013-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72947542","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: 8