Journal of prenatal medicine最新文献

{"title":"Prenatal diagnosis of a fetus with a ring chromosome 20 characterized by array-CGH.","authors":"Pietro Cignini,&nbsp;Nella Dugo,&nbsp;Claudio Giorlandino,&nbsp;Rosaria Gauci,&nbsp;Anna Spata,&nbsp;Stella Capriglione,&nbsp;Ester Valentina Cafà","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>a fetus with a ring chromosome 20 is presented.</p><p><strong>Methods: </strong>at 16 weeks' gestation, ultrasound examination evidenced no apparent structural malformation. Amniocentesis was performed for maternal anxiety.</p><p><strong>Results: </strong>chromosome analysis identified a ring chromosome 20 and array-CGH demonstrated that the ring including micro-deletion of the short arm in 20p13, that was extended for about 632.2 kb and a micro-deletion of the long arm in 20q13.33 region.</p><p><strong>Conclusion: </strong>this is the first case of a ring chromosome 20 diagnosed prenatally. This reinforces the importance of offering amniocentesis with a-CGH to make more accurate prenatal diagnosis.</p>","PeriodicalId":89592,"journal":{"name":"Journal of prenatal medicine","volume":"6 4","pages":"72-3"},"PeriodicalIF":0.0,"publicationDate":"2012-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3530963/pdf/72-73_cignini_pietro_def_bis.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31149811","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":"Comparative evaluation of epidural bupivacaine - dexmedetomidine and bupivacaine -fentanyl on Doppler velocimetry of uterine and umbilical arteries during labor.","authors":"Mohamed Fouad Selim,&nbsp;Ali Mohamed Ali Elnabtity,&nbsp;Ali Mohamed Ali Hasan","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>uteroplacental blood flow is affected by myometrial contractions and hypotension. Epidural analgesia is frequently complicated by hypotension. The aim of the study was to compare the effect of bupivacaine-dexmedetomidine (BD) or bupivacaine - fentanyl (BF) on uterine artery pulsatitly index (UtA-PI) and umbilical artery pulsatitly index (UA-PI) during uterine contractions and relaxations.</p><p><strong>Methods: </strong>this was a prospective controlled observational study performed in 130 healthy full term parturients divided into 3 groups [23 cases as control, 44 cases as (BD) epidural group and 43 cases as (BF) epidural group]. Over the study duration of 120 minutes; UtA-PI and UA-PI were measured at baseline, 30, 60, 120 minutes during uterine contractions and relaxations. Maternal hemodynamic, visual analogue scale (VAS), sedation score, side effects of epidural analgesia including nausea, vomiting, pruritis and respiratory depression were assessed.</p><p><strong>Results: </strong>VAS significantly decreased after epidural compared with control group. BD group showed significant improvement in onset and duration of analgesia and sedation scores with lower incidence of nausea and pruritis compared with BF group. The BF and BD groups were associated with significant maternal hypotension and bradycadia that increase the UtA-PI during uterine contractions and relaxations compared with control group. UA-PI was increased with uterine contractions compared with during uterine relaxations in the three studied groups yet the effect of epidural and uterine contractions does significantly affect newborns apgar scores or umbilical cord pH.</p><p><strong>Conclusion: </strong>bupivacaine-dexmedetomidine epidural analgesia showed better maternal satisfaction for labor pains control compared with bupivacaine - fentanyl without deleterious effect on utroplacental circulation and newborns outcome.</p>","PeriodicalId":89592,"journal":{"name":"Journal of prenatal medicine","volume":"6 3","pages":"47-54"},"PeriodicalIF":0.0,"publicationDate":"2012-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3503522/pdf/47-54_prenatal_3_2012.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31072832","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":"Molecular prenatal diagnosis of a sporadic alobar holoprosencephalic fetus: genotype-phenotype correlations.","authors":"Jean Gekas,&nbsp;Consolato Sergi,&nbsp;Deepak Kamnasaran","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>holoprosencephaly is the most common forebrain malformation syndrome with a multifactorial etiology. Currently, mutations are identified in 5-10% of non syndromic, non-chromosomal cases in at least 12 genes. We report the molecular prenatal diagnosis of a fetus with alobar holoprosencephaly.</p><p><strong>Methods: </strong>CTG band karyotyping and array CGH genome-wide cytogenetic screenings were done, in conjunction with DNA sequence analyses of the SHH, ZIC2, SIX3 and TGIF genes in search of a molecular etiology and with comparison of findings to prior cases.</p><p><strong>Results: </strong>standard CTG band karyotyping and array CGH genome-wide screening failed to identify plausible chromosome imbalances or structural anomalies. However, extensive sequencing of the genomic DNA from the fetus and both parents on all exon and exon-intron boundaries of the four most commonly mutated genes: SHH, ZIC2, SIX3 and TGIF, identified codon 100 of the sonic hedgehog (SHH) gene having a hotspot for loss-of-function mutations in our case and others.</p><p><strong>Conclusion: </strong>mutations in codon 100 of SHH were discovered in both sporadic and autosomal dominant inherited cases with evidence of variable expressivity and penetrance. Collectively, this study reinforces the complexity of genotype-phenotype correlations in the prenatal diagnosis of holoprosencephalic fetuses.</p>","PeriodicalId":89592,"journal":{"name":"Journal of prenatal medicine","volume":"6 3","pages":"36-9"},"PeriodicalIF":0.0,"publicationDate":"2012-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3503521/pdf/36-39_prenatal_3_2012.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31073397","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":"Doppler velocimetry of ductus venous in preterm fetuses with brain sparing effect: neonatal outcome.","authors":"Ynesmara Coelho Cosmo,&nbsp;Edward Araujo Júnior,&nbsp;Renato Augusto Moreira de Sá,&nbsp;Paulo Roberto Nassar de Carvalho,&nbsp;Rosiane Mattar,&nbsp;Laudelino Marques Lopes,&nbsp;Luciano Marcondes Machado Nardozza,&nbsp;Eduardo de Souza,&nbsp;Antonio Fernandes Moron","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>to evaluate the relationship between ductus venous (DV) and Doppler velocimetry in neonatal outcome in severe compromised preterm fetuses.</p><p><strong>Methods: </strong>the study was designed as an observational and cross-sectional study with 52 premature neonates with brain sparing effect. The criteria of neonatal severe morbidity were: severe intraventricular hemorrhage (grades 3 or 4), retinopathy of prematurity (grade 3 or 4), cystic periventricular leukomalatia, bronchopneumo dysplasia and neonatal mortality. The fetuses were divided in two groups: group 0 - all the fetuses with ventricular systole/atrial contraction (S/A) in DV ratio values less them 3.4; group 1 - fetuses with values of S/A ratio greater than 3.4.</p><p><strong>Results: </strong>42% of fetuses showed abnormal S/A ratio in DV and 48% showed birth weight below percentile 3 for gestational age. There was no statistical significance comparing the 02 groups according to bronchopneumo dysplasia, retinopathy of prematurity (grade 3 or 4) and intraventricular hemorrhage (grade 3 or 4). Only one fetus presented cystic periventricular leukomalatia. We found statistically significant association between abnormal DV S/A ratio and neonatal mortality (CI 95%, 1.28 -38.22, p< 0.002).</p><p><strong>Conclusions: </strong>our results suggest that abnormal DV blood flow detected by Doppler examination isn't associated with severe neonatal morbidity but with neonatal mortality.</p>","PeriodicalId":89592,"journal":{"name":"Journal of prenatal medicine","volume":"6 3","pages":"40-6"},"PeriodicalIF":0.0,"publicationDate":"2012-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3503520/pdf/40-46_prenatal_3_2012.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31072831","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":"A case of triploidy detected by crosstrimester test.","authors":"Paolo Guanciali-Franchi,&nbsp;Irene Iezzi,&nbsp;Barbara Matarrelli,&nbsp;Elisena Morizio,&nbsp;Giuseppe Calabrese,&nbsp;Giandomenico Palka","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>A 40-year-old woman presented in her second pregnancy, naturally conceived. Maternal serum screening and ultrasound examination raised concerns regarding aneuploidy. After genetic counselling an amniocentesis was performed, showing a 69,XXX karyotype.Here we report a case of digynic triploidy, which resulted from fertilization of a diploid ovum by a single sperm.</p>","PeriodicalId":89592,"journal":{"name":"Journal of prenatal medicine","volume":"6 3","pages":"55-6"},"PeriodicalIF":0.0,"publicationDate":"2012-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3503519/pdf/55-56_prenatal_3_2012.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31072833","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":"Full-term-pregnancy effects of antenatal betamethasone administration on short-term variation as assessed by computerized cardiotocography.","authors":"Juan Piazze,&nbsp;Kathleen Comalli Dillon,&nbsp;Cerekja Albana","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>to verify whether there are other than transitory effects of antenatal betamethasone (administered for fetal lung maturity [FLM] enhancement) on fetal heart rate (FHR) variability detected by computerized cardiotocography (cCTG) in cases where formerly steroid-treated fetuses reached term.</p><p><strong>Materials and methods: </strong>cCTG of one hundred sixty-four women (study group) exposed to antenatal betamethasone for risk of preterm delivery in third trimester period were compared to controls (pregnancies who presented risk of preterm labour in the same period of cases, although with no steroids administration). cCTG was performed weekly as of standard schedule when pregnancies reach term from 37-40 weeks' gestation for cases and controls.</p><p><strong>Results: </strong>regarding data concerning cCTG at term for cases and controls, no significant difference was found for FHR, Acc (accelerations) 10 min, and FM (fetal movements) between groups. LV (low variation)/min and LV/msec were absent in cCTG parameters of fetuses in the study group. Instead, for all weeks studied (37 to 40), cCTG parameters were higher for HV (high variation)/msec, STV(short term variation)/msec, and Acc 15 in cases with respect to controls.</p><p><strong>Conclusion: </strong>interestingly, maternal corticosteroid administration may be related to higher fetal reactivity when fetuses exposed to steroid therapy reach term. Our observation may help in the interpretation of a \"more reactive\" CTG trace in babies whose mothers previously received steroid therapy for FLM enhancement.</p>","PeriodicalId":89592,"journal":{"name":"Journal of prenatal medicine","volume":"6 2","pages":"18-21"},"PeriodicalIF":0.0,"publicationDate":"2012-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3421949/pdf/18-21_prenatal_2_2012.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30844358","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":"Correlation between ultrasound diagnosis and autopsy findings of fetal malformations.","authors":"Antonella Vimercati,&nbsp;Silvana Grasso,&nbsp;Marinella Abruzzese,&nbsp;Annarosa Chincoli,&nbsp;Alessandra de Gennaro,&nbsp;Angela Miccolis,&nbsp;Gabriella Serio,&nbsp;Luigi Selvaggi,&nbsp;Fabiana Divina Fascilla","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>to compare ultrasound (US) and autopsy findings of fetal malformations in second trimester terminations of pregnancy to evaluate the degree of agreement between US and fetal autopsy.</p><p><strong>Methods: </strong>in this study, all second trimester termination of pregnancy between 2003-2010 were considered. US and autopsy findings were compared and all cases were classified into five categories according to the degree of agreement between US and pathology (A1: full agreement between US and autopsy; A2: autopsy confirmed all US findings but revealed additional anomalies 'rarely detectable' prenatally; B: autopsy demonstrated all US findings but revealed additional anomalies 'detectable' prenatally; C: US findings were only partially demonstrated at fetal autopsy; D: total disagreement between US and autopsy).</p><p><strong>Results: </strong>144 cases were selected. In 49% of cases there was total agreement between US and autopsy diagnosis (A1). In 22% of cases additional information were about anomalies 'not detectable' by US (A2). In 12% of cases autopsy provided additional information about anomalies not observed but 'detectable' by US (B). In 13% of cases some anomalies revealed at US, such as valve insufficiencies, pericardial and pleural effusions, were not verified at autopsy (C). Total lack of agreement was noted only in 4% of cases (D). Main areas of disagreement concerned cardiovascular, CNS and complex malformations. The degree of agreement was higher if malformations were diagnosed in a tertiary center.</p><p><strong>Conclusions: </strong>this study shows an overall high degree of agreement between definitive US and autopsy findings in second trimester termination of pregnancy for fetal malformations. Autopsy reveals to be the best tool to diagnose malformations and often showed other abnormalities of clinical importance not detected by US, but sometimes also US could provide additional information about functional anomalies because US is a dynamic examination.</p>","PeriodicalId":89592,"journal":{"name":"Journal of prenatal medicine","volume":"6 2","pages":"13-7"},"PeriodicalIF":0.0,"publicationDate":"2012-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3421948/pdf/13-17_prenatal_2_2012.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30844357","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":"Antenatally diagnosed congenital cystic adenomatoid malformations (CCAM): Research Review.","authors":"Fosca Antonia Francesca Di Prima, Adriano Bellia, Genny Inclimona, Francesco Grasso, Maria Teresa, Meli Nazario Cassaro","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Prenatal identification of lung abnormalities has increased with prenatal surveillance. With the advent of improved antenatal imaging over the past ten years, the diagnosis, assessment and management of congenital cystic lung abnormalities have changed. These were once considered the exclusive domain of the surgeon, who had the authority to operate on all congenital cystic lung abnormalities regardless of size or clinical signs in order to avoid the risk of cancer and improve lung growth in even asymptomatic infants. Clinicians are reconsidering this approach in the light of the spontaneous improvement and possible resolution that occurs over months to years with many of these lesions, thinking about the opportunity to take a more conservative approach in many minimally symptomatic or asymptomatic infants in the early months of life. The risks of subsequent cancer are poorly understood and probably overstated. Many centers advocate surgery only in cases of symptomatic or significant lesions, although there is little consensus as to what constitutes a significant lesion.This article will review current knowledge (classification, pathogenesis, genetics, prenatal evaluation, clinical implications) on congenital cystic adenomatoid malformations (CCAM) and discuss management options for young children with these lung abnormalities.</p>","PeriodicalId":89592,"journal":{"name":"Journal of prenatal medicine","volume":"6 2","pages":"22-30"},"PeriodicalIF":0.0,"publicationDate":"2012-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3421952/pdf/pag_22-30_prenatl_2_2012.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30844359","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":"Discordance between karyotype from amniotic fluid and postnatal lymphocyte cultures.","authors":"Domenico Bizzoco,&nbsp;Ivan Gabrielli,&nbsp;Caterina Tamburrino,&nbsp;Lorena Sonia Carpineto,&nbsp;Alvaro Mesoraca","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Discordance between karyotype seen from amniocentesis and from neonatal blood is a very unusual condition with different possible causes.We present a case of discordance between prenatal cytogenetic diagnosis from amniotic fluid and post-natal cytogenetic diagnosis from lymphocyte cultures.</p>","PeriodicalId":89592,"journal":{"name":"Journal of prenatal medicine","volume":"6 2","pages":"34-5"},"PeriodicalIF":0.0,"publicationDate":"2012-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3421951/pdf/34-35_prenatal_2_2012.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30844361","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":"Postpartum complications in a patient with a previous proctocolectomy and ileo-pouch-anal anastomosis (IPAA) for ulcerative colitis.","authors":"Vincenzo Spina,&nbsp;Massimo Giovannini,&nbsp;Cristina Fabiani,&nbsp;Giuseppe Vetrano,&nbsp;Pietro Bagolan,&nbsp;Sergio Colizza,&nbsp;Vincenzo Aleandri","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>This case report regards pregnancy and delivery of a patient who had undergone proctocolectomy and ileo-pouch-anal-anastomosis (IPAA) for ulcerative colitis. The patient delivered through cesarean section and experienced serious complications postpartum. Such complications have been described in association with Chron's disease and have never been described after proctocolectomy and IPAA for ulcerative colitis. This case report suggests that the limit between these two diseases is not sharp.</p>","PeriodicalId":89592,"journal":{"name":"Journal of prenatal medicine","volume":"6 2","pages":"31-3"},"PeriodicalIF":0.0,"publicationDate":"2012-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3421950/pdf/31-33_prenatal_2_2012.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30844360","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}