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Prenatal Ultrasound (prenatal + ultrasound)
Selected AbstractsManagement of a Fetal Intrapericardial Teratoma: A Case Report and Review of the LiteratureCONGENITAL HEART DISEASE, Issue 1 2010Angela M. Fagiana MD ABSTRACT Intrapericardial teratomas are rare but potentially fatal. With prenatal ultrasound, early diagnosis and decision for treatment can be accomplished. However, the decision becomes to treat prenatally vs. waiting until the neonatal period for definitive surgical management. The most common sequelae of intrapericardial teratomas are pericardial effusion and often progression to hydrops. It is these sequelae that tend to guide management. Presented here is a case report of the diagnosis and management of a twin fetus with an intrapericardial teratoma, as well as a review of the literature. [source] The use of combined ultrasound and magnetic resonance imaging in the detection of fetal anomaliesPRENATAL DIAGNOSIS, Issue 5 2010Xiomara M. Santos Abstract Objective To compare the referral diagnosis based on prenatal ultrasound to diagnoses made following combined ultrasound (US) and magnetic resonance imaging (MRI) evaluation at the Texas Children's Fetal Center (TCFC) and postnatal diagnosis. Methods We performed a retrospective review of patients referred to the TCFC between September 2001 and July 2007 with a fetal structural malformation. Data were abstracted to compare the referral diagnosis to TCFC imaging diagnoses and both were compared to postnatal diagnosis. Results Two hundred and twenty-four patients were referred who had a fetal US and MRI at TCFC. The most frequent indications were for abnormalities of the central nervous system (38%) and lung/thoracic cavity (34%), with congenital diaphragmatic hernia (CDH) the single most common referral diagnosis (n = 39; 17%). In 99 cases (42.7%) the referral diagnosis was concordant with the post-referral diagnosis, however, in 68 cases (29.3%) the post-referral diagnosis changed completely, and in 65 cases (28%) additional findings were discovered. Prenatal diagnoses following imaging at TCFC were concordant with postnatal diagnoses in 94.9% of cases. Conclusions Combined ultrasound and MRI provides additional diagnostic information or a corrected diagnosis in 57% of cases over the referral ultrasound diagnosis. Copyright © 2010 John Wiley & Sons, Ltd. [source] Evaluation of 2407 fetuses in a Turkish populationPRENATAL DIAGNOSIS, Issue 9 2007Gülay Ceylaner Abstract Objectives Congenital anomalies and intrauterine fetal death (IUFD) are frequent problems in pregnancies. Detection of the etiology is important for genetic counseling, and presenting the geographic distribution of the causes of disorders is necessary for a national policy on precautions. Here, we report the findings of terminated fetuses due to IUFD and congenital anomalies in Turkish population. Methods Physical examinations of fetuses and genetic evaluations of families were done. X-ray studies and autopsy were done in the event of necessity. Findings of these studies were combined with prenatal ultrasound results. All cases were classified according to ICD-10. Results The number of fetuses examined was 2407. Out of these, 1268 fetuses had congenital anomalies. Neurologic anomalies and musculoskeletal system malformations were the most frequent disorders. Specific diagnoses were possible in 64% of all multiple malformation syndromes. Abnormal findings were detected in 18.8% of IUFD fetuses. Nine percent had congenital anomalies and 5.2% had cord complications. The percentage of twins and triplets was 7.5% and 13% of them had anomalies. Conclusion Postmortem evaluation is useful to detect findings necessary for genetic counseling. Our protocol is effective especially in fetuses with congenital anomalies but it can detect only some of the fetal reasons in IUFD cases. A more detailed protocol is needed to investigate IUFD cases. Copyright © 2007 John Wiley & Sons, Ltd. [source] Complex de novo cryptic subtelomeric rearrangements in a fetus with multiple ultrasonographic abnormalities and a normal karyotype at amniocentesisPRENATAL DIAGNOSIS, Issue 12 2005M. Anwar Iqbal Abstract Objective Prenatal diagnosis is usually offered to the majority of pregnancies with fetal structural abnormalities detected by prenatal ultrasound; however, only a small proportion show an abnormal karyotype. We wanted to detect cryptic subtelomeric rearrangements (CSTR) in a fetus with multiple abnormal ultrasonographic findings that revealed a normal karyotype at amniocentesis. Methods Fetal chromosome analysis was performed from amniotic fluid cells. Parental chromosome analysis was done on PHA stimulated lymphocyte cultures. For fluorescence in situ hybridization (FISH) analysis, ToTelVysion multicolor DNA probe mixture was used to hybridize the p and q telomeres of each chromosome. Results The amniotic fluid chromosome analysis revealed an apparently normal 46,XY karyotype. A follow-up FISH analysis showed three apparently balanced complex translocations involving (1) the chromosome 4p and 22q telomeres (2) 4q and 11q telomeres and (3) 8p, 20p and 20q telomeres. Parental chromosome and subtelomere FISH analysis was found to be normal. Conclusion To our knowledge, this is the first report of complex de novo cryptic translocations in an abnormal fetus. These CSTR identified by FISH with subtelomere-specific probes are not detected by other cytogenetic and/or molecular cytogenetic approaches. However, to confirm the balanced nature of CSTR, array-CGH can be helpful. Further studies are in progress to determine the frequency of CSTR and its significance in the etiology of fetal abnormalities. Copyright © 2005 John Wiley & Sons, Ltd. [source] Placental mesenchymal dysplasia associated with fetal aneuploidyPRENATAL DIAGNOSIS, Issue 3 2005Marta C. Cohen Abstract Objectives To describe three cases of placental mesenchymal dysplasia (PMD) associated with abnormal karyotype and review the cases reported in the literature. Methods The cases were retrieved from the files of three different institutions. A search of the English language literature was performed using Medline database. Results Placental abnormalities suggestive of molar changes were seen on the prenatal ultrasound scans. Histologically, the cases had large, hydropic stem villi with myxomatous stroma, cistern formation and ,chorangiomatoid' changes. The placental and fetal karyotypes identified were trisomy 13 (47,XX,t(1:13)(q32;q32)+ 13); Klinefelter syndrome (47,XXY) and triploidy (69,XXX). Including these 3 cases, of 66 reported cases, 51 (78%) were female and 14 (22%) male (ratio 3.6:1); the karyotype was normal in 32/36 (89%) and abnormal in 4/36 (11%); Beckwith,Wiedemann syndrome was confirmed or suspected in 15/66 (23%). Excluding termination of pregnancies, intrauterine death occurred in 18/54 (33%) cases. Conclusion Molar ultrasonographic appearances associated with increased maternal serum alpha-fetoprotein but normal, or slightly elevated, levels of ß human Chorionic Gonadotrophin should raise the clinical suspicion of PMD. The diagnosis of this condition should not be disregarded when an abnormal fetus and/or an abnormal karyotype are demonstrated. Copyright © 2005 John Wiley & Sons, Ltd. [source] Prenatal diagnosis of mosaic ring chromosome 22 associated with cardiovascular abnormalities and intrauterine growth restrictionPRENATAL DIAGNOSIS, Issue 1 2003Chih-Ping Chen Abstract Objectives To present the prenatal diagnosis and perinatal findings of mosaic ring chromosome 22. Case Amniocentesis was performed at 18 gestational weeks because of an advanced maternal age. Cytogenetic analysis of the cultured amniotic fluid cells revealed mosaicism for ring chromosome 22, 45,XX,-22[6]/46,XX,r(22)(p13q13.31)[15]. Abnormal fetal sonographic findings included small for gestational age, a ventricular septal defect, and truncus arteriosus. The pregnancy was terminated. Additional phenotypic findings included hypertelorism, epicanthal folds, and abnormal ears. Cytogenetic analysis of the cord blood lymphocytes revealed a complex mosaic karyotype, 45,XX,-22[7]/46,XX,r(22)(p13q13.31)[82]/46,XX,idic r(22)(p13q13.31;p13q13.31)[11]. Cytogenetic analysis of the hepatocytes also revealed mosaic r(22) with mosaicism for idic r(22) and monosomy 22. The deletion of distal 22q and the duplication of 22q11.2 on idic r(22), and the distal 22q deletion on r(22) were demonstrated by fluorescent in situ hybridization (FISH) analysis using 22q terminal probes at 22q13 and a DiGeorge syndrome critical region probe at 22q11.2. The breakpoint on distal 22q13 and the extent of the duplication of 22q on idic r(22) was determined by examining polymorphic markers specific for chromosome 22 using quantitative fluorescent polymerase chain reaction assays. The chromosomal aberration was of maternal origin. Conclusion Molecular and FISH studies allow a better delineation of some prenatally detected aneuploidy syndromes and help elucidate the genetic pathogenesis. Fetuses having mosaic r(22) with a low level mosaicism for r(22) duplication/deletion may present cardiovascular abnormalities and intrauterine growth restriction on prenatal ultrasound. Copyright © 2002 John Wiley & Sons, Ltd. [source] Prenatal diagnosis of the Dandy-Walker malformation and ventriculomegaly associated with partial trisomy 9p and distal 12p deletionPRENATAL DIAGNOSIS, Issue 12 2002Chih-Ping Chen Abstract Objectives To present the prenatal diagnosis and perinatal findings of partial trisomy 9p and distal 12p deletion. Methods and results Amniocentesis was performed at 17 gestational weeks due to a balanced reciprocal translocation t(9;12)(p11.2;p13.3) in the mother. The father's karyotype was normal. The family had a 5-year-old daughter with a Dandy-Walker malformation and a trisomy 9p syndrome. Cytogenetic analysis of the cultured amniotic fluid cells revealed a 46,XY,der(12)t(9;12)(p11.2;p13.3)mat karyotype with partial monosomy 12p(12pter,p13.3) and partial trisomy 9p(9pter,p11.2). Sonographic examination of the fetal brain and skull showed bilateral ventriculomegaly, brachycephaly and a Dandy-Walker malformation with an enlarged cisterna magna and absence of the cerebellar vermis. The pregnancy was terminated subsequently. At autopsy, the proband manifested agenesis of the cerebellar vermis and a typical trisomy 9p phenotype. Conclusion Fetuses with partial trisomy 9p(9pter,p11.2) may present a Dandy-Walker malformation and ventriculomegaly on prenatal ultrasound in the second trimester. A dosage effect of genes located on 9pter,p11.2 may be associated with the abnormal development of the central nervous system in patients with partial or complete trisomy 9. Copyright © 2002 John Wiley & Sons, Ltd. [source] Psychological impact of the detection of soft markers on routine ultrasound scanning: a pilot study investigating the modifying role of informationPRENATAL DIAGNOSIS, Issue 7 2002Melanie S. Watson Abstract Objectives To determine the impact on maternal anxiety of detecting a soft marker, and the association between anxiety and the information given during the scan. Methods Routine 20-week fetal anomaly scans were audiotaped in the obstetric ultrasound unit of a London teaching hospital, across a four month study period. The study sample comprised 28 pregnant women: 14 in whom a soft marker was detected and a comparison group of 14 women in whom no marker was identified. Telephone interviews were conducted within one week of the scan, at 30,weeks' gestation, and one month after the birth of their children. The main outcome was anxiety, assessed using a standardized scale. Information provided during the scan was coded from transcripts. Results In the week following the scan, women with soft markers had clinically significant levels of anxiety. At 30,weeks' gestation and one month post-partum their levels were within the normal range. Women who were told during their scan that their baby would probably be all right, compared with women not told this, were significantly less anxious and worried about their baby. Conclusions Results from this small longitudinal study suggest that the detection of soft markers on routine prenatal ultrasound causes considerable short-term anxiety for women and that providing reassurance during the scan may prevent some of this anxiety. Copyright © 2002 John Wiley & Sons, Ltd. [source] Genetic skeletal disorders of the fetus and infant: Pathologic and molecular findings in a series of 41 cases,BIRTH DEFECTS RESEARCH, Issue 10 2009Anastasia E. Konstantinidou Abstract BACKGROUND: Genetic skeletal disorders of the fetus and infant are a large group of genetic disorders, comprising the groups formerly assigned as skeletal dysplasias (osteochondrodysplasias), dysostoses, and malformation syndromes with a skeletal component. Genetic skeletal disorders may be prenatally detected by ultrasonography or result in intrauterine or early postnatal death, constituting one difficult diagnostic field met by the pathologist who performs the perinatal autopsy. METHODS: In this retrospective study, we have gathered radiologic, physical, histopathologic, and molecular data regarding 41 cases of genetic skeletal disorders diagnosed among 1980 fetal and perinatal autopsies over a 10-year period. RESULTS: Our series of cases were classified according to the 2006 Nosology and Classification of Genetic Skeletal Disorders. The overall frequency of genetic skeletal disorders was 1:48 autopsies. The FGFR3 group and osteogenesis imperfecta type 2 were the more frequently encountered disorders. The mean gestational age at autopsy was 21.9 weeks (range, 12,37 weeks). A final diagnosis was obtained in 95% of cases. Genetic skeletal disorders were detected by prenatal ultrasound in 90% of cases, with a correct typing of the disorder achieved in only 34%. Molecular analysis was confirmative in 5 cases. CONCLUSIONS: The central role of the perinatal pathologist in collaboration with specialized services is essential for the correct interpretation of the radiologic, physical, and histopathologic findings, to accurately classify specific types of genetic skeletal disorders and enable genetic counseling. Birth Defects Research (Part A), 2009. © 2009 Wiley-Liss, Inc. [source] A challenging intervention with maternal anxiety: Babies requiring surgical correction of a congenital anomaly after missed prenatal diagnosisINFANT MENTAL HEALTH JOURNAL, Issue 6 2003Lucia Aite The objective of this study is to assess the impact on maternal anxiety of a short-term intervention in a particularly stressful situation, such as a surgical anomaly diagnosed only at birth after repeated negative prenatal ultrasounds. The patients were 30 mothers of babies requiring surgical correction of a congenital anomaly who were randomly assigned to an intervention (N = 16) or control (N = 14) group. The intervention group received standard care plus short-term intervention that included weekly meetings with the psychologist and weekly team meetings. The control group received only standard care available on the Neonatal Surgery Unit. The main outcome measure was maternal anxiety levels, assessed at birth and on discharge with the Spielberger State,Trait Anxiety Inventory (STAI,S). Statistical comparisons were made, and no significant differences were found at birth in the STAI,S scores of the two groups. At discharge, the intervention group exhibited a much lower STAI,S score than the group without short-term intervention. The authors concluded that psychological counseling for parents of newborn babies has been shown to be helpful. However, the impact of such assistance was shown to be particularly beneficial for parents facing the emotional stress of their children requiring unexpected surgical corrections of congenital anomalies at birth. Therefore, the presence of a psychologist, as part of the standard care of newborns requiring surgical correction, is recommended. ©2003 Michigan Association for Infant Mental Health. [source] | ||||||||||