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The incidence of cystic hygroma, which represents dilated obstructed jugular lymph sacs, is 1 in 6000 pregnancies. Cystic hygromas can be located in the nuchal area or in any other location. The prenatal ultrasonic diagnosis of a cystic hygroma in the mediastinum is presented. 相似文献
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Sigi Rotmensch Claudio Celentano Oscar Sadan Marco Liberati Dorit Lev Marek Glezerman 《黑龙江环境通报》2004,24(4):260-264
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Israel Goldstein M.D. Peter Jakobi Gideon Shoshany Shlomo Filmer Ioseph Itskoviz Bar Maor 《黑龙江环境通报》1994,14(8):757-761
We add two cases of prenatally diagnosed late-onset isolated cystic hygroma to the eight cases reported previously in the English literature. The obstetrical significance, management, and outcome of this entity are reviewed. A retrospective study of late-onset isolated cystic hygromas delivered in one medical centre between 1978 and 1992 was made. The medical records of these newborns served as the basis of the present report. A Medline search of the English literature was carried out. Over a period of 15 years, we observed 11 cases of late-onset congenital isolated cystic hygroma, two of whom had prenatal sonographic diagnosis. In one case, a Caesarean section was performed due to a huge lesion. All cases underwent surgical excision with a favourable outcome. Of the eight prenatally diagnosed cases reported previously, one died at birth due to inability to ventilate and two required a tracheostomy. Late-onset isolated cystic hygroma should be differentiated from the early-onset nuchal cystic hygroma. The differential diagnosis is important, as late-onset isolated cystic hygroma does not require any prenatal intervention, but special awareness during labour and Caesarean section in extreme cases. Transport to a perinatal centre with expert neonatal, respiratory, and paediatric surgical care is recommended. The prognosis in general is favourable. 相似文献
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O. Ami O. Picone L. Garçon C. Castel C. Guitton J. Delaunay R. Frydman M. V. Senat 《黑龙江环境通报》2009,29(11):1071-1074
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D. Costa A. Borrell E. Margarit A. Carrió A. Soler I. Balmes X. Estivill A. Fortuny 《黑龙江环境通报》1995,15(2):141-148
Fluid from pleural effusion (n=2) and cystic hygroma (n=7) was obtained from eight fetuses, between 13 and 32 weeks of pregnancy at the time when a conventional prenatal diagnosis procedure was carried out. As these fluids contain lymphocytes, they were processed like peripheral blood. A karyotype was obtained in 4 days in both cases of pleural effusion and in four out of seven samples of cystic hygroma. An abnormal karyotype was detected in three of the four samples of cystic hygroma: two trisomies 21 and a monosomy X. Different parameters were evaluated in order to predict the feasibility of obtaining a cytogenetic diagnosis. Our data showed that if the amount of fluid obtained was ⩾4 ml and the initial lymphocyte count (ILC) was >0.2 × 106 cells/ml, a cytogenetic diagnosis was possible from an initial concentration of cultured lymphocytes )ICCL) of >0.06 × 106 cells/ml. 相似文献
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S. Kanafani A. Aboura E. Pipiras L. Carbillon A. C. Tabet C. Largillière C. Garel P. Gressens M. Bucourt I. Cedrin-Durnerin E. Lachassinne C. Roumegoux M. Uzan J. N. Hugues J. P. Wolf B. Benzacken 《黑龙江环境通报》2007,27(3):279-284
We report a semilobar holoprosencephaly (HPE) in a post-intracytoplasmic-sperm-injection pregnancy. It was suggested by ultrasonography (US), documented on karyotype, identified with magnetic resonance imaging (MRI), established after birth and confirmed on post-mortem autopsy. An amniocentesis revealed a de novo apparently balanced reciprocal translocation 46,XY, t(7;8) (q31.3;q12). Fluorescence in situ hybridization (FISH) identified a deletion in the region of the Sonic Hedgehog gene (SHH) on der(8); nevertheless, the subtelomeric regions for chromosomes 7 and 8 were present. The parents decided to continue the pregnancy; a boy was born and survived for 3 days. The brain autopsy confirmed the semilobar HPE previously noted on US and MRI. Further, band-specific FISH revealed, in addition to SHH deletion, the presence of an inversion in the 7q translocated material on der(8). The parents' karyotypes were normal. An unexpected complex rearrangement was present in a de novo apparently balanced reciprocal translocation in a semilobar HPE. Copyright © 2007 John Wiley & Sons, Ltd. 相似文献
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Dr E. Pannier G. Viot M. C. Aubry G. Grange J. Tantau C. Fallet-Bianco F. Muller D. Cabrol 《黑龙江环境通报》2003,23(1):25-30
Congenital erythropoietic porphyria (CEP) or Günther's disease is the rarest form of the porphyrias. The disease is usually diagnosed at birth or during early infancy, but rarely in utero. We describe here the first two cases of very early prenatal expression of CEP with cystic hygroma diagnosed at 14 weeks in the first fetus and at 19 weeks in the second. Both fetuses presented with severe nonimmune hydrops fetalis as early as 19 and 22 weeks, associated with intrauterine growth retardation, hyperechogenic kidneys and bones. Amniotic fluid was dark brown and uro- and coproporphyrin I was dramatically increased. Molecular screening of the CEP gene detected heterozygous C73R mutation in both fetuses, the other parental mutation being as yet unknown. Copyright © 2002 John Wiley & Sons, Ltd. 相似文献
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António Pires Lina Ramos Margarida Venâncio Ana Isabel Rei Sérgio Castedo Jorge Saraiva 《黑龙江环境通报》2005,25(4):292-295
The authors describe a case of a male foetus whose ultrasound at 20 weeks' gestation revealed cystic hygroma, cleft lip and ventricular septal defect. Amniotic fluid cytogenetics using GTG banding showed a 46,XY,der(13)t(3;13)(q12;p11.1) rearrangement, and fluorescence in situ hybridization (FISH) delineated the relevant breakpoints. Familial studies identified a maternal balanced translocation involving chromosomes 3 and 13. The post-mortem examination confirmed the prenatal ultrasound findings. Copyright © 2005 John Wiley & Sons, Ltd. 相似文献
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Karen Chong Sarah Keating Stephanie Hurst Anne Summers Howard Berger Gareth Seaward Nicole Martin Tami Friedberg David Chitayat 《黑龙江环境通报》2009,29(5):489-494
Cornelia de Lange Syndrome (CdLS) is a multisystem disorder characterized by somatic defects and mental retardation. Prenatal diagnosis of this severe condition is difficult in view of the non-specific ultrasound abnormalities. We report three cases with prenatally suspected CdLS based on the ultrasound findings as well as low PAPP-A detected on first trimester screening in one case, and the results of the autopsy and the NIPBL gene mutation analysis. Copyright © 2009 John Wiley & Sons, Ltd. 相似文献
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Congenital cystic adenomatoid malformation of the lung can be detected with antenatal ultrasound as hyperechogenic areas in the fetal chest. Associated extrapulmonary malformations as well as chromosomal aberrations are described as very rare. We present a case report of a fetus in the 23rd week of gestation who showed in the course of a routine ultrasound screening a large number of malformations: holoprosencephaly, arrhinencephaly, cleft palate, CCAM type III of the right inferior pulmonary lobe, ventricular septal defect and bilateral clubfeet. Chromosome analysis confirmed the suspicion of trisomy 13. The present case shows how important it is—even with malformations that are rarely accompanied by associated anomalies and which have a very good prognosis—to carry out a directed diagnosis including a fetal karyotyping. Copyright © 2003 John Wiley & Sons, Ltd. 相似文献
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Ronald L. Thomas MD 《黑龙江环境通报》1992,12(11):919-923
Cystic hygromas have historically been associated with a grim prognosis when discovered during prenatal sonographic study of the fetus. This same grim prognosis is not observed by the paediatric surgeon who evaluates the neonate or paediatric patient. We present a fetal patient with a massive anterior cystic hygroma discovered in the third trimester prior to 30 weeks. This case and a review of the literature suggest tailoring the prognosis by category when counselling patients: (1) first trimester, normal karyotype-good; (2) first trimester, abnormal karyotype-poor; (3) second trimester and early third-poor to guarded; and (4) mid to late third trimester-good. 相似文献
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The spontaneous resolution of cystic hygromas in fetuses with trisomy 18 may be due to a delay in lymphatic-vascular anastomosis. The severity of growth delay with trisomy 18 appears to be variable in time of onset and extent. 相似文献
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Min Yu Angela C. Obringer Melissa H. Fowler Marybeth Hummel Sharon L. Wenger 《黑龙江环境通报》2005,25(12):1084-1087