Navegando por Palavras-chave "Prenatal Diagnosis"
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- ItemSomente MetadadadosAntenatal diagnosis of a large immature abdominal wall teratoma by 2d-3d ultrasound using hdlive and magnetic resonance imaging(Via Medica, 2016) Werner, Heron; Mocarzel, Carolina; Sa, Renato Augusto; Tonni, Gabriele; Novoa y Novoa, Victoria Arruga [UNIFESP]; Avvad-Portari, Elyzabeth; Bonasoni, Paola; Araujo Junior, Edward [UNIFESP]We describe the first case of prenatally detected teratoma of the fetal abdomen wall using ultrasound and fetal magnetic resonance imaging (MRI). A heterogeneous mass, partly solid and cystic, originating from the anterior abdominal wall of the fetus close to an omphalocele sac was detected by means of 2D/3D ultrasound and MRI. Amniodrainage was performed and due to sign of impending fetal risk, an emergency Cesarean section was performed. A bulky, crumbly and bleeding tumoral mass was confirmed at delivery. Ligation of the supplying artery to the tumor was complicated by uncontrollable hemorrhage and early neonatal death. Pathology identified the tumor as an immature teratoma of the anterior fetal abdominal wall. 2D/3D ultrasound, especially using HDlive application and MRI demonstrated accurate detection and characterization of this congenital tumor.
- ItemSomente MetadadadosApplication of fluorescence in situ hybridization (fish) as a tool to aid cytogenetics in 1,409 fetal samples(Elsevier Science Inc, 2016) de Moraes-Malinverni, Andrea C. [UNIFESP]; Patricio, F. R. S. [UNIFESP]; Oshima, Celina Tizuko Fujiyama [UNIFESP]; Moron, Antonio F. [UNIFESP]; da Silva, I. D. C. G. [UNIFESP]; de Souza, M. M. [UNIFESP]Aim: To evaluate the technical application of fluorescence in situ hybridization (FISH) as a support to classical cytogenetic in numerical chromosomal aneuploidies studies in samples of amniotic fluid, chorionic villus, and fetal loss. Materials and Methods: The authors performed cytogenetic analyses in 1,409 patients (678 amniocentesis, 512 chorionic villus samples, and 219 spontaneous abortions) during one year. FISH molecular study aided traditional cytogenetic in 90 cases. These cases were indicated based on the diagnostic hypothesis of each patient or when no cellular growth was obtained. The authors standardized the FISH in discoloured slides. Results: They had 85% positive FISH in amniotic fluid, 70% in chorionic villus, and 90% in abortion material using 13, 18, 21 X and Y centromeric probes. It showed 12% of altered FISH in amniotic fluid (100% trisomies), 10% in chorionic villus (50% trisomy and 50% X - monosomy), and 22% in abortion material (50% trisomy, 25% X-monosomy, and 25% triploidy). FISH and cytogenetic analysis confirmed the results. Conclusion: This technique revolutionized clinical and research applications of cytogenetics. In this particular paper, FISH was a valuable and reliable technique to promptly identify rapid detection of aneuploidies in interphase cells, metaphase spread and paraffin-embedded samples. It is hoped that, in the future, the economic viability of array CGH and FISH, with the decreasing cost of testing and their genomics advantages can be incorporated as routine and customized in the approach of prenatal diagnosis.
- ItemSomente MetadadadosThe 'brain shadowing sign': a novel marker of fetal craniosynostosis(Bmj Publishing Group, 2016) Haratz, Karina Krajden [UNIFESP]; Leibovitz, Zvi; Svirsky, Ran; Drummond, Carolina Leite; Lev, Dorit; Gindes, Liat; Lerman-Sagie, Tally; Malinger, GustavoIntroduction: The prenatal diagnosis of fetal craniosynostosis is challenging, especially in single-suture cases. When sutures are obliterated, sound waves fail to penetrate the cortical bone, creating an evident acoustic shadow on the underlying brain. The objective of this study was to evaluate the yield of the 'brain shadowing sign' (BSS) as a novel sono-graphic marker for craniosynostosis. Subjects and Methods: Patients with an antenatal diagnosis of fetal craniosynostosis (cases) and healthy controls paired for gestational age were enrolled in this retrospective case-control study. Two-dimensional scans were assessed by three examiners for the presence of the BSS and additional fetal findings. Results: The BSS was clearly depicted in all 24 cases on the first anal- ysis and in 22 cases on the second analysis. No fetus from the control group (n = 48) presented the BSS in any of the analyses. Fifteen cases had isolated craniosynostosis and 9 were syndromic (Apert, Saethre-Chotzen and craniofrontonasal syndromes), which were diagnosed significantly earlier due to additional malformations. Discussion: The BSS is a novel sonographic marker of craniosynostosis which can be used to increase the diagnostic rate of this rare condition and does not require the use of high-definition three-dimensional transducers to be depicted. (C) 2016 S. Karger AG, Basel
- ItemSomente MetadadadosPrenatal diagnosis of gastric and small bowel atresia: a case series and review of the literature(Taylor & francis ltd, 2016) Tonni, Gabriele; Grisolia, Gianpaolo; Granese, Roberta; Giacobbe, Annamaria; Napolitano, Marcello; Passos, Jurandir Piass [UNIFESP]i; Araujo Junior, Edward [UNIFESP]Objective: To describe seven cases of gastrointestinal tract (GIT) obstructions and to report a skewed review of the literature. Methods: We performed a search of our permanent perinatal database about cases with prenatal ultrasound and MRI diagnosis of gastrointestinal tract obstructions between 2006 and 2013. All cases were followed until hospital discharge and pre-natal diagnosis were confirmed by fetal MRI, postnatal imaging and/or intra-operative findings. Maternal age, parity, gestational age at diagnosis, ultrasound findings, gestational age at delivery, Apgar scores at 1 and 5 min and postnatal outcome have been recorded. Results: We identified seven cases of gastric and small bowel atresia. Karyotype was normal in six cases and abnormal in one co-twin [46, XY dup (20) (qq13.1q13.3)dn] of a dichorionic-diamniotic pregnancy. The mean +/- SD for maternal age, gestational age at diagnosis, gestational at delivery, birth weight and Apgar scores at 1 and 5 min were 30.8 +/- 4.8 years, 29.8 +/- 3.7 weeks, 2507.5 +/- 727.5 g and 5.6 +/- 2.1, 7.6 +/- 1.6, respectively. All fetuses' undergone surgical procedures in the postnatal period and all of them were discharged live from the hospital. Conclusion: Prompted antenatal detection of gastrointestinal tract obstruction using ultrasound proved to be diagnostic in all cases. Fetal MRI aid was a useful complementary diagnostic investigation. Correct pre-natal diagnosis allows adequate counseling, delivery planning and management care by a multidisciplinary team.