The Experts below are selected from a list of 1023 Experts worldwide ranked by ideXlab platform
B. Fouquet - One of the best experts on this subject based on the ideXlab platform.
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prenatal diagnosis of Trisomy 9 mosaic presenting as a case of dandy walker malformation
Prenatal Diagnosis, 1993Co-Authors: Y A Bureau, William D. Fraser, B. FouquetAbstract:Trisomy 9 syndrome is a rare chromosomal anomaly associated with specific patterns of multisystem dysmorphism and occasional central nervous system (CNS) malformations, the most common being the Dandy-Walker malformation. Milder anomalies are usually seen with Trisomy 9 mosaicism. We report what we believe to be the first case of a baby with an isolated Dandy-Walker malformation which was diagnosed prenatally and was subsequently found to have a Trisomy 9 mosaic syndrome.
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Prenatal diagnosis of Trisomy 9 mosaic presenting as a case of Dandy‐Walker malformation
Prenatal diagnosis, 1993Co-Authors: Y.‐a. Bureau, William D. Fraser, B. FouquetAbstract:Trisomy 9 syndrome is a rare chromosomal anomaly associated with specific patterns of multisystem dysmorphism and occasional central nervous system (CNS) malformations, the most common being the Dandy-Walker malformation. Milder anomalies are usually seen with Trisomy 9 mosaicism. We report what we believe to be the first case of a baby with an isolated Dandy-Walker malformation which was diagnosed prenatally and was subsequently found to have a Trisomy 9 mosaic syndrome.
Chin Yuan Tzen - One of the best experts on this subject based on the ideXlab platform.
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Second‐trimester diagnosis of complete Trisomy 9 associated with abnormal maternal serum screen results, open sacral spina bifida and congenital diaphragmatic hernia, and review of the literature
Prenatal diagnosis, 2004Co-Authors: Chih-ping Chen, Schu Rern Chern, Sho Jen Cheng, Tung Yao Chang, Li Fan Yeh, Chen Chi Lee, Chen Wen Pan, Wayseen Wang, Chin Yuan TzenAbstract:Objectives To present the prenatal diagnosis of complete Trisomy 9 and to review the literature Case A 25-year-old primigravida woman was referred for amniocentesis at 19 weeks' gestation because of abnormal maternal screen results showing an elevated maternal serum alpha-fetoprotein (MSAFP) level and a low maternal serum free β-human chorionic gonadotrophin (MSfreeβ-hCG) level. Results Genetic amniocentesis revealed a karyotype of 47,XX,+9 in the amniocytes and an elevated amniotic fluid AFP level. Ultrasonography demonstrated intrauterine growth restriction, left congenital diaphragmatic hernia, fetal ascites, a sacral spina bifida, a horseshoe kidney, and absence of amniotic fluid. Ultrafast magnetic resonance imaging scans further depicted detailed anatomical configurations of the major congenital malformations. The pregnancy was terminated subsequently. The proband postnatally manifested characteristic facial dysmorphism, limb deformities, and an open sacral spina bifida with myelomeningocele. Cytogenetic analysis of the skin fibroblasts revealed a karyotype of 47,XX,+9. Molecular studies of various uncultured fetal tissues using microsatellite markers confirmed a diagnosis of complete Trisomy 9 resulting from a meiotic I nondisjunction error of maternal origin. Conclusion Complete Trisomy 9 can be identified prenatally with advanced maternal age, sonographically detected fetal structural abnormalities, and abnormal maternal serum screen results. Fetuses with complete Trisomy 9 may be associated with congenital diaphragmatic hernia, an open sacral spina bifida, elevated MSAFP, and low MSfreeβ-hCG. We suggest detailed prenatal imaging investigations and genetic analyses of multiple fetal tissues when a prenatal diagnosis of Trisomy 9 is made. Copyright © 2004 John Wiley & Sons, Ltd.
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second trimester diagnosis of complete Trisomy 9 associated with abnormal maternal serum screen results open sacral spina bifida and congenital diaphragmatic hernia and review of the literature
Prenatal Diagnosis, 2004Co-Authors: Chih-ping Chen, Schu Rern Chern, Sho Jen Cheng, Tung Yao Chang, Li Fan Yeh, Chen Chi Lee, Chen Wen Pan, Wayseen Wang, Chin Yuan TzenAbstract:Objectives To present the prenatal diagnosis of complete Trisomy 9 and to review the literature Case A 25-year-old primigravida woman was referred for amniocentesis at 19 weeks' gestation because of abnormal maternal screen results showing an elevated maternal serum alpha-fetoprotein (MSAFP) level and a low maternal serum free β-human chorionic gonadotrophin (MSfreeβ-hCG) level. Results Genetic amniocentesis revealed a karyotype of 47,XX,+9 in the amniocytes and an elevated amniotic fluid AFP level. Ultrasonography demonstrated intrauterine growth restriction, left congenital diaphragmatic hernia, fetal ascites, a sacral spina bifida, a horseshoe kidney, and absence of amniotic fluid. Ultrafast magnetic resonance imaging scans further depicted detailed anatomical configurations of the major congenital malformations. The pregnancy was terminated subsequently. The proband postnatally manifested characteristic facial dysmorphism, limb deformities, and an open sacral spina bifida with myelomeningocele. Cytogenetic analysis of the skin fibroblasts revealed a karyotype of 47,XX,+9. Molecular studies of various uncultured fetal tissues using microsatellite markers confirmed a diagnosis of complete Trisomy 9 resulting from a meiotic I nondisjunction error of maternal origin. Conclusion Complete Trisomy 9 can be identified prenatally with advanced maternal age, sonographically detected fetal structural abnormalities, and abnormal maternal serum screen results. Fetuses with complete Trisomy 9 may be associated with congenital diaphragmatic hernia, an open sacral spina bifida, elevated MSAFP, and low MSfreeβ-hCG. We suggest detailed prenatal imaging investigations and genetic analyses of multiple fetal tissues when a prenatal diagnosis of Trisomy 9 is made. Copyright © 2004 John Wiley & Sons, Ltd.
Chih-ping Chen - One of the best experts on this subject based on the ideXlab platform.
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Second‐trimester diagnosis of complete Trisomy 9 associated with abnormal maternal serum screen results, open sacral spina bifida and congenital diaphragmatic hernia, and review of the literature
Prenatal diagnosis, 2004Co-Authors: Chih-ping Chen, Schu Rern Chern, Sho Jen Cheng, Tung Yao Chang, Li Fan Yeh, Chen Chi Lee, Chen Wen Pan, Wayseen Wang, Chin Yuan TzenAbstract:Objectives To present the prenatal diagnosis of complete Trisomy 9 and to review the literature Case A 25-year-old primigravida woman was referred for amniocentesis at 19 weeks' gestation because of abnormal maternal screen results showing an elevated maternal serum alpha-fetoprotein (MSAFP) level and a low maternal serum free β-human chorionic gonadotrophin (MSfreeβ-hCG) level. Results Genetic amniocentesis revealed a karyotype of 47,XX,+9 in the amniocytes and an elevated amniotic fluid AFP level. Ultrasonography demonstrated intrauterine growth restriction, left congenital diaphragmatic hernia, fetal ascites, a sacral spina bifida, a horseshoe kidney, and absence of amniotic fluid. Ultrafast magnetic resonance imaging scans further depicted detailed anatomical configurations of the major congenital malformations. The pregnancy was terminated subsequently. The proband postnatally manifested characteristic facial dysmorphism, limb deformities, and an open sacral spina bifida with myelomeningocele. Cytogenetic analysis of the skin fibroblasts revealed a karyotype of 47,XX,+9. Molecular studies of various uncultured fetal tissues using microsatellite markers confirmed a diagnosis of complete Trisomy 9 resulting from a meiotic I nondisjunction error of maternal origin. Conclusion Complete Trisomy 9 can be identified prenatally with advanced maternal age, sonographically detected fetal structural abnormalities, and abnormal maternal serum screen results. Fetuses with complete Trisomy 9 may be associated with congenital diaphragmatic hernia, an open sacral spina bifida, elevated MSAFP, and low MSfreeβ-hCG. We suggest detailed prenatal imaging investigations and genetic analyses of multiple fetal tissues when a prenatal diagnosis of Trisomy 9 is made. Copyright © 2004 John Wiley & Sons, Ltd.
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second trimester diagnosis of complete Trisomy 9 associated with abnormal maternal serum screen results open sacral spina bifida and congenital diaphragmatic hernia and review of the literature
Prenatal Diagnosis, 2004Co-Authors: Chih-ping Chen, Schu Rern Chern, Sho Jen Cheng, Tung Yao Chang, Li Fan Yeh, Chen Chi Lee, Chen Wen Pan, Wayseen Wang, Chin Yuan TzenAbstract:Objectives To present the prenatal diagnosis of complete Trisomy 9 and to review the literature Case A 25-year-old primigravida woman was referred for amniocentesis at 19 weeks' gestation because of abnormal maternal screen results showing an elevated maternal serum alpha-fetoprotein (MSAFP) level and a low maternal serum free β-human chorionic gonadotrophin (MSfreeβ-hCG) level. Results Genetic amniocentesis revealed a karyotype of 47,XX,+9 in the amniocytes and an elevated amniotic fluid AFP level. Ultrasonography demonstrated intrauterine growth restriction, left congenital diaphragmatic hernia, fetal ascites, a sacral spina bifida, a horseshoe kidney, and absence of amniotic fluid. Ultrafast magnetic resonance imaging scans further depicted detailed anatomical configurations of the major congenital malformations. The pregnancy was terminated subsequently. The proband postnatally manifested characteristic facial dysmorphism, limb deformities, and an open sacral spina bifida with myelomeningocele. Cytogenetic analysis of the skin fibroblasts revealed a karyotype of 47,XX,+9. Molecular studies of various uncultured fetal tissues using microsatellite markers confirmed a diagnosis of complete Trisomy 9 resulting from a meiotic I nondisjunction error of maternal origin. Conclusion Complete Trisomy 9 can be identified prenatally with advanced maternal age, sonographically detected fetal structural abnormalities, and abnormal maternal serum screen results. Fetuses with complete Trisomy 9 may be associated with congenital diaphragmatic hernia, an open sacral spina bifida, elevated MSAFP, and low MSfreeβ-hCG. We suggest detailed prenatal imaging investigations and genetic analyses of multiple fetal tissues when a prenatal diagnosis of Trisomy 9 is made. Copyright © 2004 John Wiley & Sons, Ltd.
William D. Fraser - One of the best experts on this subject based on the ideXlab platform.
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prenatal diagnosis of Trisomy 9 mosaic presenting as a case of dandy walker malformation
Prenatal Diagnosis, 1993Co-Authors: Y A Bureau, William D. Fraser, B. FouquetAbstract:Trisomy 9 syndrome is a rare chromosomal anomaly associated with specific patterns of multisystem dysmorphism and occasional central nervous system (CNS) malformations, the most common being the Dandy-Walker malformation. Milder anomalies are usually seen with Trisomy 9 mosaicism. We report what we believe to be the first case of a baby with an isolated Dandy-Walker malformation which was diagnosed prenatally and was subsequently found to have a Trisomy 9 mosaic syndrome.
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Prenatal diagnosis of Trisomy 9 mosaic presenting as a case of Dandy‐Walker malformation
Prenatal diagnosis, 1993Co-Authors: Y.‐a. Bureau, William D. Fraser, B. FouquetAbstract:Trisomy 9 syndrome is a rare chromosomal anomaly associated with specific patterns of multisystem dysmorphism and occasional central nervous system (CNS) malformations, the most common being the Dandy-Walker malformation. Milder anomalies are usually seen with Trisomy 9 mosaicism. We report what we believe to be the first case of a baby with an isolated Dandy-Walker malformation which was diagnosed prenatally and was subsequently found to have a Trisomy 9 mosaic syndrome.
Wayseen Wang - One of the best experts on this subject based on the ideXlab platform.
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Second‐trimester diagnosis of complete Trisomy 9 associated with abnormal maternal serum screen results, open sacral spina bifida and congenital diaphragmatic hernia, and review of the literature
Prenatal diagnosis, 2004Co-Authors: Chih-ping Chen, Schu Rern Chern, Sho Jen Cheng, Tung Yao Chang, Li Fan Yeh, Chen Chi Lee, Chen Wen Pan, Wayseen Wang, Chin Yuan TzenAbstract:Objectives To present the prenatal diagnosis of complete Trisomy 9 and to review the literature Case A 25-year-old primigravida woman was referred for amniocentesis at 19 weeks' gestation because of abnormal maternal screen results showing an elevated maternal serum alpha-fetoprotein (MSAFP) level and a low maternal serum free β-human chorionic gonadotrophin (MSfreeβ-hCG) level. Results Genetic amniocentesis revealed a karyotype of 47,XX,+9 in the amniocytes and an elevated amniotic fluid AFP level. Ultrasonography demonstrated intrauterine growth restriction, left congenital diaphragmatic hernia, fetal ascites, a sacral spina bifida, a horseshoe kidney, and absence of amniotic fluid. Ultrafast magnetic resonance imaging scans further depicted detailed anatomical configurations of the major congenital malformations. The pregnancy was terminated subsequently. The proband postnatally manifested characteristic facial dysmorphism, limb deformities, and an open sacral spina bifida with myelomeningocele. Cytogenetic analysis of the skin fibroblasts revealed a karyotype of 47,XX,+9. Molecular studies of various uncultured fetal tissues using microsatellite markers confirmed a diagnosis of complete Trisomy 9 resulting from a meiotic I nondisjunction error of maternal origin. Conclusion Complete Trisomy 9 can be identified prenatally with advanced maternal age, sonographically detected fetal structural abnormalities, and abnormal maternal serum screen results. Fetuses with complete Trisomy 9 may be associated with congenital diaphragmatic hernia, an open sacral spina bifida, elevated MSAFP, and low MSfreeβ-hCG. We suggest detailed prenatal imaging investigations and genetic analyses of multiple fetal tissues when a prenatal diagnosis of Trisomy 9 is made. Copyright © 2004 John Wiley & Sons, Ltd.
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second trimester diagnosis of complete Trisomy 9 associated with abnormal maternal serum screen results open sacral spina bifida and congenital diaphragmatic hernia and review of the literature
Prenatal Diagnosis, 2004Co-Authors: Chih-ping Chen, Schu Rern Chern, Sho Jen Cheng, Tung Yao Chang, Li Fan Yeh, Chen Chi Lee, Chen Wen Pan, Wayseen Wang, Chin Yuan TzenAbstract:Objectives To present the prenatal diagnosis of complete Trisomy 9 and to review the literature Case A 25-year-old primigravida woman was referred for amniocentesis at 19 weeks' gestation because of abnormal maternal screen results showing an elevated maternal serum alpha-fetoprotein (MSAFP) level and a low maternal serum free β-human chorionic gonadotrophin (MSfreeβ-hCG) level. Results Genetic amniocentesis revealed a karyotype of 47,XX,+9 in the amniocytes and an elevated amniotic fluid AFP level. Ultrasonography demonstrated intrauterine growth restriction, left congenital diaphragmatic hernia, fetal ascites, a sacral spina bifida, a horseshoe kidney, and absence of amniotic fluid. Ultrafast magnetic resonance imaging scans further depicted detailed anatomical configurations of the major congenital malformations. The pregnancy was terminated subsequently. The proband postnatally manifested characteristic facial dysmorphism, limb deformities, and an open sacral spina bifida with myelomeningocele. Cytogenetic analysis of the skin fibroblasts revealed a karyotype of 47,XX,+9. Molecular studies of various uncultured fetal tissues using microsatellite markers confirmed a diagnosis of complete Trisomy 9 resulting from a meiotic I nondisjunction error of maternal origin. Conclusion Complete Trisomy 9 can be identified prenatally with advanced maternal age, sonographically detected fetal structural abnormalities, and abnormal maternal serum screen results. Fetuses with complete Trisomy 9 may be associated with congenital diaphragmatic hernia, an open sacral spina bifida, elevated MSAFP, and low MSfreeβ-hCG. We suggest detailed prenatal imaging investigations and genetic analyses of multiple fetal tissues when a prenatal diagnosis of Trisomy 9 is made. Copyright © 2004 John Wiley & Sons, Ltd.
