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Wayseen Wang - One of the best experts on this subject based on the ideXlab platform.

  • prenatal diagnosis of low level mosaic trisomy 17 with maternal uniparental disomy 17 by Amniocentesis in a pregnancy with a favorable outcome
    Taiwanese Journal of Obstetrics & Gynecology, 2020
    Co-Authors: Chihping Chen, Schu-rern Chern, Dai Dyi Town, Shinwen Chen, Shinyu Lin, Wayseen Wang
    Abstract:

    Abstract Objective We present prenatal diagnosis low-level mosaic trisomy 17 with maternal uniparental disomy (UPD) 17 at Amniocentesis in a pregnancy with a favorable outcome. Materials and methods A 40-year-old, primigravid woman underwent Amniocentesis at 18 weeks of gestation because of advanced maternal age. This pregnancy was conceived by in vitro fertilization and embryo transfer. Amniocentesis revealed a karyotype of 47,XX,+17 [13]/ 46, XX [23]. Repeat Amniocentesis was performed at 21 weeks of gestation. Conventional cytogenetic analysis was applied on cultured amniocytes, parental bloods and cord blood. Simultaneous molecular genetic analysis such as interphase fluorescence in situ hybridization (FISH), array comparative genomic hybridization (aCGH) and quantitative fluorescent polymerase chain reaction (QF-PCR) assays were applied on uncultured amniocytes. Interphase FISH was applied on postnatal buccal cells. Results Repeat Amniocentesis revealed a karyotype of 47,XX,+17[6]/46,XX[28]. Genetic analyses on uncultured amniocytes showed the results of mosaic trisomy 17 (12/101 cells = 11.9%) in FISH analysis, no genomic imbalance in aCGH analysis and maternal UPD 17 in QF-PCR assays. The parental karyotypes were normal. Prenatal ultrasound findings were unremarkable. The parents decided to continue the pregnancy, and a 1449-g, phenotypically normal female baby was delivered prematurely at 31 weeks of gestation. The cord blood had a karyotype of 46,XX. She had a normal psychomotor development at age 22 months at follow-up. Interphase FISH analysis on buccal cells showed trisomy 17 signals in 1/66 cells (1.5%). Conclusions Low-level mosaicism for trisomy 17 associated with maternal UPD 17 detected by Amniocentesis without ultrasound abnormality can be associated with a favorable outcome. Molecular genetic analysis of uncultured amniocytes at repeat Amniocentesis is useful for confirmation and genetic counseling under such as circumstance.

  • Prenatal diagnosis of mosaicism for double trisomies of trisomy 11 and trisomy 12 in a single colony at Amniocentesis in a pregnancy with a favorable outcome.
    Taiwanese journal of obstetrics & gynecology, 2020
    Co-Authors: Chihping Chen, Schu-rern Chern, Shinwen Chen, Yunyi Chen, Liang-kai Wang, Wayseen Wang
    Abstract:

    Abstract Objective We present prenatal diagnosis of mosaicism for double trisomies of trisomy 11 and trisomy 12 in a single colony at Amniocentesis with a favorable outcome. Case report A 23-year-old woman underwent Amniocentesis at 24 weeks of gestation because of congenital bowel dilation in the fetus. Amniocentesis revealed a karyotype of 48,XX,+11,+12[1]/46,XX[24]. In 25 colonies of cultured amniocytes, all five cells in one colony had the karyotype of 48,XX,+11,+12, while the rest 24 colonies had the karyotype of 46,XX. The parental karyotypes were normal. Repeat Amniocentesis was performed at 26 weeks of gestation. Interphase fluorescence in situ hybridization (FISH), array comparative genomic hybridization (aCGH) and quantitative fluorescent polymerase chain reaction (QF-PCR) were applied on the uncultured amniocytes, and conventional cytogenetic analysis was applied on cultured amniocytes. Interphase FISH analysis showed no trisomy 11 signal and no trisomy 12 signal in 102 uncultured amniocytes. QF-PCR analysis excluded uniparental disomy (UPD) 11 and UPD 12. aCGH analysis showed no genomic imbalance. The cultured amniocytes at repeat Amniocentesis had the karyotype of 46,XX in 13/13 colonies. At term, a healthy 3445-g female baby was delivered with no phenotypic abnormality except imperforate anus and a perianal fistula. The cord blood had a karyotype of 46,XX in 40/40 lymphocytes. Postnatal interphase FISH analysis of buccal cells and urinary cells revealed trisomies 11 and 12 signals in 11/111 (9.9%) buccal cells compared with 3% in normal control, and in 3/103 (2.9%) urinary cells compared with 0.98% in normal control. Conclusion Mosaicism for double trisomies of trisomy 11 and trisomy 12 in a single colony at Amniocentesis without UPD 11 and UPD 12 can be associated with a favorable outcome.

  • mosaic trisomy 22 at Amniocentesis prenatal diagnosis and literature review
    Taiwanese Journal of Obstetrics & Gynecology, 2019
    Co-Authors: Chihping Chen, Schu-rern Chern, Wayseen Wang, Dai Dyi Town, Shinwen Chen, Tzuyun Chuang, Mingchao Huang
    Abstract:

    Abstract Objective We present prenatal diagnosis of mosaic trisomy 22 at Amniocentesis in a pregnancy with facial cleft, oligohydramnios and intrauterine growth restriction (IUGR), and we review the literature. Case report A 37-year-old woman underwent Amniocentesis at 19 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XX,+22[9]/46,XX[9]. Array comparative genomic hybridization (aCGH) analysis on uncultured amniocytes showed a result of arr(22) × 3 [0.8]. Prenatal ultrasound revealed fetal median facial cleft, oligohydramnios and IUGR. Repeat Amniocentesis at 22 weeks of gestation using uncultured amniocytes revealed an aCGH result of arr 22q11.1q13.33 (17,397,498–51,178,264) × 2.8 compatible with 80% mosaicism for trisomy 22, and a fluorescence in situ hybridization (FISH) result of mosaic trisomy 22 with trisomy 22 in 54/100 interphase cells. The cultured amniocytes at repeat Amniocentesis had a karyotype of 47,XX,+22[12]/46,XX[8]. The parental karyotypes were normal. Polymorphic DNA marker analysis confirmed a maternal origin of the extra chromosome 22. The pregnancy was terminated, and a 256-g female fetus was delivered with facial dysmorphism and median facial cleft. Cytogenetic analysis of the skin fibroblasts revealed a karyotype of 47,XX,+22[33]/46,XX[7]. Conclusion Fetuses with high level mosaicism for trisomy 22 at Amniocentesis may present IUGR, facial cleft and oligohydramnios on prenatal ultrasound.

  • prenatal diagnosis and molecular cytogenetic characterization of low level mosaicism for tetrasomy 18p at Amniocentesis in a pregnancy with a favorable outcome
    Taiwanese Journal of Obstetrics & Gynecology, 2017
    Co-Authors: Chihping Chen, Chienwen Yang, Schu-rern Chern, Chen Wen Pan, Shinwen Chen, Shihting Lai, Tzuyun Chuang, Yiyung Chen, Wayseen Wang
    Abstract:

    Abstract Objective We present prenatal diagnosis of low-level mosaicism for tetrasomy 18p at Amniocentesis in a pregnancy with a favorable outcome. Case Report A 40-year-old woman underwent Amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a de novo supernumerary isochromosome 18p in eight of 39 colonies of cultured amniocytes. The karyotype was 47,XX,+i(18)(p10)[8]/46,XX[31]. Array comparative genomic hybridization (aCGH) analysis using uncultured amniocytes revealed arr 18p11.32p11.21 [hg 19] (148,963–14,081,887) × 2–3. Repeat Amniocentesis was performed at 20 weeks of gestation. Interphase fluorescence in situ hybridization (FISH) analysis showed four 18p11.22-specific probe (RP11-918F20) signals in 11.7% (12/103 cells) of uncultured amniocytes. aCGH analysis on uncultured amniocytes did not detect genomic imbalance in chromosome 18. The parental karyotypes were normal. Polymorphic DNA marker analysis excluded uniparental disomy 18. Cytogenetic analysis of cultured amniocytes at repeat Amniocentesis revealed a karyotype of 47,XX,+i(18)(p10)[2]/46,XX[12]. Prenatal ultrasound was unremarkable. The pregnancy was carried to 38 weeks of gestation, and a 2742-g phenotypically normal female baby was delivered with a cord blood karyotype of 46,XX. When examined at 8 months of age, the infant was normal in growth and psychomotor development. Interphase FISH analysis on 21 uncultured urinary cells revealed normal signals in all cells and no mosaic tetrasomy 18p. Conclusion Low-level mosaic tetrasomy 18p at Amniocentesis without ultrasound abnormalities can be associated with a favorable outcome.

  • mosaic trisomy 17 at Amniocentesis prenatal diagnosis molecular genetic analysis and literature review
    Taiwanese Journal of Obstetrics & Gynecology, 2016
    Co-Authors: Chihping Chen, Chienwen Yang, Schu-rern Chern, Wayseen Wang, Dai Dyi Town, Chen Wen Pan, Shinwen Chen, Liang-kai Wang, Yenni Chen
    Abstract:

    Abstract Objective We present prenatal diagnosis and molecular genetic analysis of mosaic trisomy 17 and a review of the literature of mosaic trisomy 17 at Amniocentesis. Materials and Methods A 42-year-old woman underwent Amniocentesis at 17 weeks of gestation because of advanced maternal age, which revealed a karyotype of 47,XX,+17[4]/46,XX[17]. Prenatal ultrasound findings were unremarkable. She underwent repeat Amniocentesis at 20 weeks of gestation. Interphase fluorescence in situ hybridization (FISH), array comparative genomic hybridization, and quantitative fluorescent polymerase chain reaction assays were applied to uncultured amniocytes. Conventional cytogenetic analysis was applied to cultured amniocytes and cord blood. Interphase FISH was applied to uncultured urinary cells postnatally. Results At repeat Amniocentesis, molecular genetic analysis of uncultured amniocytes revealed no genomic imbalance in array comparative genomic hybridization, no uniparental disomy 17 in quantitative fluorescent polymerase chain reaction, and 4.7% (5/105 cells) mosaic trisomy 17 in interphase FISH analysis. Conventional cytogenetic analysis of cultured amniocytes revealed a karyotype of 46,XX (17/17 colonies). A phenotypically normal baby was delivered at 38 weeks of gestation. The cord blood had a karyotype of 46,XX. Interphase FISH analysis of uncultured urinary cells revealed 5.6% (5/90 cells) mosaic trisomy 17. The neonate manifested normal growth and psychomotor development during follow-ups. Conclusion Low-level mosaicism for trisomy 17 detected by Amniocentesis without ultrasound abnormality can be associated with a favorable outcome. Molecular genetic analysis of uncultured amniocytes at repeat Amniocentesis is useful for genetic counseling. A review of the literature shows a correlation between an adverse fetal outcome and a higher trisomy 17 mosaicism level at Amniocentesis associated with ultrasound abnormality.

Chihping Chen - One of the best experts on this subject based on the ideXlab platform.

  • prenatal diagnosis of low level mosaic trisomy 17 with maternal uniparental disomy 17 by Amniocentesis in a pregnancy with a favorable outcome
    Taiwanese Journal of Obstetrics & Gynecology, 2020
    Co-Authors: Chihping Chen, Schu-rern Chern, Dai Dyi Town, Shinwen Chen, Shinyu Lin, Wayseen Wang
    Abstract:

    Abstract Objective We present prenatal diagnosis low-level mosaic trisomy 17 with maternal uniparental disomy (UPD) 17 at Amniocentesis in a pregnancy with a favorable outcome. Materials and methods A 40-year-old, primigravid woman underwent Amniocentesis at 18 weeks of gestation because of advanced maternal age. This pregnancy was conceived by in vitro fertilization and embryo transfer. Amniocentesis revealed a karyotype of 47,XX,+17 [13]/ 46, XX [23]. Repeat Amniocentesis was performed at 21 weeks of gestation. Conventional cytogenetic analysis was applied on cultured amniocytes, parental bloods and cord blood. Simultaneous molecular genetic analysis such as interphase fluorescence in situ hybridization (FISH), array comparative genomic hybridization (aCGH) and quantitative fluorescent polymerase chain reaction (QF-PCR) assays were applied on uncultured amniocytes. Interphase FISH was applied on postnatal buccal cells. Results Repeat Amniocentesis revealed a karyotype of 47,XX,+17[6]/46,XX[28]. Genetic analyses on uncultured amniocytes showed the results of mosaic trisomy 17 (12/101 cells = 11.9%) in FISH analysis, no genomic imbalance in aCGH analysis and maternal UPD 17 in QF-PCR assays. The parental karyotypes were normal. Prenatal ultrasound findings were unremarkable. The parents decided to continue the pregnancy, and a 1449-g, phenotypically normal female baby was delivered prematurely at 31 weeks of gestation. The cord blood had a karyotype of 46,XX. She had a normal psychomotor development at age 22 months at follow-up. Interphase FISH analysis on buccal cells showed trisomy 17 signals in 1/66 cells (1.5%). Conclusions Low-level mosaicism for trisomy 17 associated with maternal UPD 17 detected by Amniocentesis without ultrasound abnormality can be associated with a favorable outcome. Molecular genetic analysis of uncultured amniocytes at repeat Amniocentesis is useful for confirmation and genetic counseling under such as circumstance.

  • Prenatal diagnosis of mosaicism for double trisomies of trisomy 11 and trisomy 12 in a single colony at Amniocentesis in a pregnancy with a favorable outcome.
    Taiwanese journal of obstetrics & gynecology, 2020
    Co-Authors: Chihping Chen, Schu-rern Chern, Shinwen Chen, Yunyi Chen, Liang-kai Wang, Wayseen Wang
    Abstract:

    Abstract Objective We present prenatal diagnosis of mosaicism for double trisomies of trisomy 11 and trisomy 12 in a single colony at Amniocentesis with a favorable outcome. Case report A 23-year-old woman underwent Amniocentesis at 24 weeks of gestation because of congenital bowel dilation in the fetus. Amniocentesis revealed a karyotype of 48,XX,+11,+12[1]/46,XX[24]. In 25 colonies of cultured amniocytes, all five cells in one colony had the karyotype of 48,XX,+11,+12, while the rest 24 colonies had the karyotype of 46,XX. The parental karyotypes were normal. Repeat Amniocentesis was performed at 26 weeks of gestation. Interphase fluorescence in situ hybridization (FISH), array comparative genomic hybridization (aCGH) and quantitative fluorescent polymerase chain reaction (QF-PCR) were applied on the uncultured amniocytes, and conventional cytogenetic analysis was applied on cultured amniocytes. Interphase FISH analysis showed no trisomy 11 signal and no trisomy 12 signal in 102 uncultured amniocytes. QF-PCR analysis excluded uniparental disomy (UPD) 11 and UPD 12. aCGH analysis showed no genomic imbalance. The cultured amniocytes at repeat Amniocentesis had the karyotype of 46,XX in 13/13 colonies. At term, a healthy 3445-g female baby was delivered with no phenotypic abnormality except imperforate anus and a perianal fistula. The cord blood had a karyotype of 46,XX in 40/40 lymphocytes. Postnatal interphase FISH analysis of buccal cells and urinary cells revealed trisomies 11 and 12 signals in 11/111 (9.9%) buccal cells compared with 3% in normal control, and in 3/103 (2.9%) urinary cells compared with 0.98% in normal control. Conclusion Mosaicism for double trisomies of trisomy 11 and trisomy 12 in a single colony at Amniocentesis without UPD 11 and UPD 12 can be associated with a favorable outcome.

  • mosaic trisomy 22 at Amniocentesis prenatal diagnosis and literature review
    Taiwanese Journal of Obstetrics & Gynecology, 2019
    Co-Authors: Chihping Chen, Schu-rern Chern, Wayseen Wang, Dai Dyi Town, Shinwen Chen, Tzuyun Chuang, Mingchao Huang
    Abstract:

    Abstract Objective We present prenatal diagnosis of mosaic trisomy 22 at Amniocentesis in a pregnancy with facial cleft, oligohydramnios and intrauterine growth restriction (IUGR), and we review the literature. Case report A 37-year-old woman underwent Amniocentesis at 19 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XX,+22[9]/46,XX[9]. Array comparative genomic hybridization (aCGH) analysis on uncultured amniocytes showed a result of arr(22) × 3 [0.8]. Prenatal ultrasound revealed fetal median facial cleft, oligohydramnios and IUGR. Repeat Amniocentesis at 22 weeks of gestation using uncultured amniocytes revealed an aCGH result of arr 22q11.1q13.33 (17,397,498–51,178,264) × 2.8 compatible with 80% mosaicism for trisomy 22, and a fluorescence in situ hybridization (FISH) result of mosaic trisomy 22 with trisomy 22 in 54/100 interphase cells. The cultured amniocytes at repeat Amniocentesis had a karyotype of 47,XX,+22[12]/46,XX[8]. The parental karyotypes were normal. Polymorphic DNA marker analysis confirmed a maternal origin of the extra chromosome 22. The pregnancy was terminated, and a 256-g female fetus was delivered with facial dysmorphism and median facial cleft. Cytogenetic analysis of the skin fibroblasts revealed a karyotype of 47,XX,+22[33]/46,XX[7]. Conclusion Fetuses with high level mosaicism for trisomy 22 at Amniocentesis may present IUGR, facial cleft and oligohydramnios on prenatal ultrasound.

  • prenatal diagnosis and molecular cytogenetic characterization of low level mosaicism for tetrasomy 18p at Amniocentesis in a pregnancy with a favorable outcome
    Taiwanese Journal of Obstetrics & Gynecology, 2017
    Co-Authors: Chihping Chen, Chienwen Yang, Schu-rern Chern, Chen Wen Pan, Shinwen Chen, Shihting Lai, Tzuyun Chuang, Yiyung Chen, Wayseen Wang
    Abstract:

    Abstract Objective We present prenatal diagnosis of low-level mosaicism for tetrasomy 18p at Amniocentesis in a pregnancy with a favorable outcome. Case Report A 40-year-old woman underwent Amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a de novo supernumerary isochromosome 18p in eight of 39 colonies of cultured amniocytes. The karyotype was 47,XX,+i(18)(p10)[8]/46,XX[31]. Array comparative genomic hybridization (aCGH) analysis using uncultured amniocytes revealed arr 18p11.32p11.21 [hg 19] (148,963–14,081,887) × 2–3. Repeat Amniocentesis was performed at 20 weeks of gestation. Interphase fluorescence in situ hybridization (FISH) analysis showed four 18p11.22-specific probe (RP11-918F20) signals in 11.7% (12/103 cells) of uncultured amniocytes. aCGH analysis on uncultured amniocytes did not detect genomic imbalance in chromosome 18. The parental karyotypes were normal. Polymorphic DNA marker analysis excluded uniparental disomy 18. Cytogenetic analysis of cultured amniocytes at repeat Amniocentesis revealed a karyotype of 47,XX,+i(18)(p10)[2]/46,XX[12]. Prenatal ultrasound was unremarkable. The pregnancy was carried to 38 weeks of gestation, and a 2742-g phenotypically normal female baby was delivered with a cord blood karyotype of 46,XX. When examined at 8 months of age, the infant was normal in growth and psychomotor development. Interphase FISH analysis on 21 uncultured urinary cells revealed normal signals in all cells and no mosaic tetrasomy 18p. Conclusion Low-level mosaic tetrasomy 18p at Amniocentesis without ultrasound abnormalities can be associated with a favorable outcome.

  • mosaic trisomy 17 at Amniocentesis prenatal diagnosis molecular genetic analysis and literature review
    Taiwanese Journal of Obstetrics & Gynecology, 2016
    Co-Authors: Chihping Chen, Chienwen Yang, Schu-rern Chern, Wayseen Wang, Dai Dyi Town, Chen Wen Pan, Shinwen Chen, Liang-kai Wang, Yenni Chen
    Abstract:

    Abstract Objective We present prenatal diagnosis and molecular genetic analysis of mosaic trisomy 17 and a review of the literature of mosaic trisomy 17 at Amniocentesis. Materials and Methods A 42-year-old woman underwent Amniocentesis at 17 weeks of gestation because of advanced maternal age, which revealed a karyotype of 47,XX,+17[4]/46,XX[17]. Prenatal ultrasound findings were unremarkable. She underwent repeat Amniocentesis at 20 weeks of gestation. Interphase fluorescence in situ hybridization (FISH), array comparative genomic hybridization, and quantitative fluorescent polymerase chain reaction assays were applied to uncultured amniocytes. Conventional cytogenetic analysis was applied to cultured amniocytes and cord blood. Interphase FISH was applied to uncultured urinary cells postnatally. Results At repeat Amniocentesis, molecular genetic analysis of uncultured amniocytes revealed no genomic imbalance in array comparative genomic hybridization, no uniparental disomy 17 in quantitative fluorescent polymerase chain reaction, and 4.7% (5/105 cells) mosaic trisomy 17 in interphase FISH analysis. Conventional cytogenetic analysis of cultured amniocytes revealed a karyotype of 46,XX (17/17 colonies). A phenotypically normal baby was delivered at 38 weeks of gestation. The cord blood had a karyotype of 46,XX. Interphase FISH analysis of uncultured urinary cells revealed 5.6% (5/90 cells) mosaic trisomy 17. The neonate manifested normal growth and psychomotor development during follow-ups. Conclusion Low-level mosaicism for trisomy 17 detected by Amniocentesis without ultrasound abnormality can be associated with a favorable outcome. Molecular genetic analysis of uncultured amniocytes at repeat Amniocentesis is useful for genetic counseling. A review of the literature shows a correlation between an adverse fetal outcome and a higher trisomy 17 mosaicism level at Amniocentesis associated with ultrasound abnormality.

Schu-rern Chern - One of the best experts on this subject based on the ideXlab platform.

  • prenatal diagnosis of low level mosaic trisomy 17 with maternal uniparental disomy 17 by Amniocentesis in a pregnancy with a favorable outcome
    Taiwanese Journal of Obstetrics & Gynecology, 2020
    Co-Authors: Chihping Chen, Schu-rern Chern, Dai Dyi Town, Shinwen Chen, Shinyu Lin, Wayseen Wang
    Abstract:

    Abstract Objective We present prenatal diagnosis low-level mosaic trisomy 17 with maternal uniparental disomy (UPD) 17 at Amniocentesis in a pregnancy with a favorable outcome. Materials and methods A 40-year-old, primigravid woman underwent Amniocentesis at 18 weeks of gestation because of advanced maternal age. This pregnancy was conceived by in vitro fertilization and embryo transfer. Amniocentesis revealed a karyotype of 47,XX,+17 [13]/ 46, XX [23]. Repeat Amniocentesis was performed at 21 weeks of gestation. Conventional cytogenetic analysis was applied on cultured amniocytes, parental bloods and cord blood. Simultaneous molecular genetic analysis such as interphase fluorescence in situ hybridization (FISH), array comparative genomic hybridization (aCGH) and quantitative fluorescent polymerase chain reaction (QF-PCR) assays were applied on uncultured amniocytes. Interphase FISH was applied on postnatal buccal cells. Results Repeat Amniocentesis revealed a karyotype of 47,XX,+17[6]/46,XX[28]. Genetic analyses on uncultured amniocytes showed the results of mosaic trisomy 17 (12/101 cells = 11.9%) in FISH analysis, no genomic imbalance in aCGH analysis and maternal UPD 17 in QF-PCR assays. The parental karyotypes were normal. Prenatal ultrasound findings were unremarkable. The parents decided to continue the pregnancy, and a 1449-g, phenotypically normal female baby was delivered prematurely at 31 weeks of gestation. The cord blood had a karyotype of 46,XX. She had a normal psychomotor development at age 22 months at follow-up. Interphase FISH analysis on buccal cells showed trisomy 17 signals in 1/66 cells (1.5%). Conclusions Low-level mosaicism for trisomy 17 associated with maternal UPD 17 detected by Amniocentesis without ultrasound abnormality can be associated with a favorable outcome. Molecular genetic analysis of uncultured amniocytes at repeat Amniocentesis is useful for confirmation and genetic counseling under such as circumstance.

  • Prenatal diagnosis of mosaicism for double trisomies of trisomy 11 and trisomy 12 in a single colony at Amniocentesis in a pregnancy with a favorable outcome.
    Taiwanese journal of obstetrics & gynecology, 2020
    Co-Authors: Chihping Chen, Schu-rern Chern, Shinwen Chen, Yunyi Chen, Liang-kai Wang, Wayseen Wang
    Abstract:

    Abstract Objective We present prenatal diagnosis of mosaicism for double trisomies of trisomy 11 and trisomy 12 in a single colony at Amniocentesis with a favorable outcome. Case report A 23-year-old woman underwent Amniocentesis at 24 weeks of gestation because of congenital bowel dilation in the fetus. Amniocentesis revealed a karyotype of 48,XX,+11,+12[1]/46,XX[24]. In 25 colonies of cultured amniocytes, all five cells in one colony had the karyotype of 48,XX,+11,+12, while the rest 24 colonies had the karyotype of 46,XX. The parental karyotypes were normal. Repeat Amniocentesis was performed at 26 weeks of gestation. Interphase fluorescence in situ hybridization (FISH), array comparative genomic hybridization (aCGH) and quantitative fluorescent polymerase chain reaction (QF-PCR) were applied on the uncultured amniocytes, and conventional cytogenetic analysis was applied on cultured amniocytes. Interphase FISH analysis showed no trisomy 11 signal and no trisomy 12 signal in 102 uncultured amniocytes. QF-PCR analysis excluded uniparental disomy (UPD) 11 and UPD 12. aCGH analysis showed no genomic imbalance. The cultured amniocytes at repeat Amniocentesis had the karyotype of 46,XX in 13/13 colonies. At term, a healthy 3445-g female baby was delivered with no phenotypic abnormality except imperforate anus and a perianal fistula. The cord blood had a karyotype of 46,XX in 40/40 lymphocytes. Postnatal interphase FISH analysis of buccal cells and urinary cells revealed trisomies 11 and 12 signals in 11/111 (9.9%) buccal cells compared with 3% in normal control, and in 3/103 (2.9%) urinary cells compared with 0.98% in normal control. Conclusion Mosaicism for double trisomies of trisomy 11 and trisomy 12 in a single colony at Amniocentesis without UPD 11 and UPD 12 can be associated with a favorable outcome.

  • mosaic trisomy 22 at Amniocentesis prenatal diagnosis and literature review
    Taiwanese Journal of Obstetrics & Gynecology, 2019
    Co-Authors: Chihping Chen, Schu-rern Chern, Wayseen Wang, Dai Dyi Town, Shinwen Chen, Tzuyun Chuang, Mingchao Huang
    Abstract:

    Abstract Objective We present prenatal diagnosis of mosaic trisomy 22 at Amniocentesis in a pregnancy with facial cleft, oligohydramnios and intrauterine growth restriction (IUGR), and we review the literature. Case report A 37-year-old woman underwent Amniocentesis at 19 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XX,+22[9]/46,XX[9]. Array comparative genomic hybridization (aCGH) analysis on uncultured amniocytes showed a result of arr(22) × 3 [0.8]. Prenatal ultrasound revealed fetal median facial cleft, oligohydramnios and IUGR. Repeat Amniocentesis at 22 weeks of gestation using uncultured amniocytes revealed an aCGH result of arr 22q11.1q13.33 (17,397,498–51,178,264) × 2.8 compatible with 80% mosaicism for trisomy 22, and a fluorescence in situ hybridization (FISH) result of mosaic trisomy 22 with trisomy 22 in 54/100 interphase cells. The cultured amniocytes at repeat Amniocentesis had a karyotype of 47,XX,+22[12]/46,XX[8]. The parental karyotypes were normal. Polymorphic DNA marker analysis confirmed a maternal origin of the extra chromosome 22. The pregnancy was terminated, and a 256-g female fetus was delivered with facial dysmorphism and median facial cleft. Cytogenetic analysis of the skin fibroblasts revealed a karyotype of 47,XX,+22[33]/46,XX[7]. Conclusion Fetuses with high level mosaicism for trisomy 22 at Amniocentesis may present IUGR, facial cleft and oligohydramnios on prenatal ultrasound.

  • prenatal diagnosis and molecular cytogenetic characterization of low level mosaicism for tetrasomy 18p at Amniocentesis in a pregnancy with a favorable outcome
    Taiwanese Journal of Obstetrics & Gynecology, 2017
    Co-Authors: Chihping Chen, Chienwen Yang, Schu-rern Chern, Chen Wen Pan, Shinwen Chen, Shihting Lai, Tzuyun Chuang, Yiyung Chen, Wayseen Wang
    Abstract:

    Abstract Objective We present prenatal diagnosis of low-level mosaicism for tetrasomy 18p at Amniocentesis in a pregnancy with a favorable outcome. Case Report A 40-year-old woman underwent Amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a de novo supernumerary isochromosome 18p in eight of 39 colonies of cultured amniocytes. The karyotype was 47,XX,+i(18)(p10)[8]/46,XX[31]. Array comparative genomic hybridization (aCGH) analysis using uncultured amniocytes revealed arr 18p11.32p11.21 [hg 19] (148,963–14,081,887) × 2–3. Repeat Amniocentesis was performed at 20 weeks of gestation. Interphase fluorescence in situ hybridization (FISH) analysis showed four 18p11.22-specific probe (RP11-918F20) signals in 11.7% (12/103 cells) of uncultured amniocytes. aCGH analysis on uncultured amniocytes did not detect genomic imbalance in chromosome 18. The parental karyotypes were normal. Polymorphic DNA marker analysis excluded uniparental disomy 18. Cytogenetic analysis of cultured amniocytes at repeat Amniocentesis revealed a karyotype of 47,XX,+i(18)(p10)[2]/46,XX[12]. Prenatal ultrasound was unremarkable. The pregnancy was carried to 38 weeks of gestation, and a 2742-g phenotypically normal female baby was delivered with a cord blood karyotype of 46,XX. When examined at 8 months of age, the infant was normal in growth and psychomotor development. Interphase FISH analysis on 21 uncultured urinary cells revealed normal signals in all cells and no mosaic tetrasomy 18p. Conclusion Low-level mosaic tetrasomy 18p at Amniocentesis without ultrasound abnormalities can be associated with a favorable outcome.

  • mosaic trisomy 17 at Amniocentesis prenatal diagnosis molecular genetic analysis and literature review
    Taiwanese Journal of Obstetrics & Gynecology, 2016
    Co-Authors: Chihping Chen, Chienwen Yang, Schu-rern Chern, Wayseen Wang, Dai Dyi Town, Chen Wen Pan, Shinwen Chen, Liang-kai Wang, Yenni Chen
    Abstract:

    Abstract Objective We present prenatal diagnosis and molecular genetic analysis of mosaic trisomy 17 and a review of the literature of mosaic trisomy 17 at Amniocentesis. Materials and Methods A 42-year-old woman underwent Amniocentesis at 17 weeks of gestation because of advanced maternal age, which revealed a karyotype of 47,XX,+17[4]/46,XX[17]. Prenatal ultrasound findings were unremarkable. She underwent repeat Amniocentesis at 20 weeks of gestation. Interphase fluorescence in situ hybridization (FISH), array comparative genomic hybridization, and quantitative fluorescent polymerase chain reaction assays were applied to uncultured amniocytes. Conventional cytogenetic analysis was applied to cultured amniocytes and cord blood. Interphase FISH was applied to uncultured urinary cells postnatally. Results At repeat Amniocentesis, molecular genetic analysis of uncultured amniocytes revealed no genomic imbalance in array comparative genomic hybridization, no uniparental disomy 17 in quantitative fluorescent polymerase chain reaction, and 4.7% (5/105 cells) mosaic trisomy 17 in interphase FISH analysis. Conventional cytogenetic analysis of cultured amniocytes revealed a karyotype of 46,XX (17/17 colonies). A phenotypically normal baby was delivered at 38 weeks of gestation. The cord blood had a karyotype of 46,XX. Interphase FISH analysis of uncultured urinary cells revealed 5.6% (5/90 cells) mosaic trisomy 17. The neonate manifested normal growth and psychomotor development during follow-ups. Conclusion Low-level mosaicism for trisomy 17 detected by Amniocentesis without ultrasound abnormality can be associated with a favorable outcome. Molecular genetic analysis of uncultured amniocytes at repeat Amniocentesis is useful for genetic counseling. A review of the literature shows a correlation between an adverse fetal outcome and a higher trisomy 17 mosaicism level at Amniocentesis associated with ultrasound abnormality.

F Dantonio - One of the best experts on this subject based on the ideXlab platform.

  • risk of fetal loss following Amniocentesis or chorionic villus sampling in twin pregnancy systematic review and meta analysis
    Ultrasound in Obstetrics & Gynecology, 2020
    Co-Authors: D Di Mascio, Asma Khalil, Giuseppe Rizzo, D Buca, Marco Liberati, Cecilia Acuti Martellucci, Maria Elena Flacco, Lamberto Manzoli, F Dantonio
    Abstract:

    OBJECTIVE To assess the rate of fetal loss following Amniocentesis or chorionic villus sampling (CVS) in twin pregnancy. METHODS MEDLINE, EMBASE and Cochrane databases were searched for studies reporting procedure-related complications following Amniocentesis or CVS in twin pregnancy. The primary outcome was the rate of procedure-related fetal loss. The secondary outcomes were fetal loss occurring before 24 weeks of gestation and fetal loss occurring within 4 weeks after the procedure. Head-to-head meta-analyses were used to compare directly each outcome, between women undergoing Amniocentesis and those not undergoing Amniocentesis and between women undergoing CVS and those not undergoing CVS, and to compute pooled risk differences (RD) between women exposed and those not exposed to each invasive procedure. Additionally, meta-analyses of proportions were used to estimate the pooled rates of each of the three outcomes in women undergoing Amniocentesis or CVS and in controls. RESULTS Sixteen studies (3419 twin pregnancies undergoing and 2517 not undergoing an invasive procedure) were included. Head-to-head meta-analyses comparing directly twin pregnancies undergoing and those not undergoing Amniocentesis showed a higher risk for overall fetal loss in those undergoing Amniocentesis (odds ratio (OR), 1.46 (P = 0.04); RD, 0.013 (P = 0.04)), while there was no difference in the risk of either fetal loss before 24 weeks of gestation (OR, 1.59 (P = 0.06); RD, 0.010 (P = 0.11)) or fetal loss within 4 weeks after the procedure (OR, 1.38 (P = 0.3); RD, 0.003 (P = 0.8)). Overall, the pooled rate of fetal loss was 2.4% (95% CI, 1.4-3.6%) in twin pregnancies undergoing Amniocentesis compared with 2.4% (95% CI, 0.9-4.6%) in those not undergoing Amniocentesis. Head-to-head meta-analyses directly comparing twin pregnancies undergoing and those not undergoing CVS showed no significant difference in either overall fetal loss (OR, 1.61 (P = 0.5); RD, 0.003 (P = 0.8)) or fetal loss before 24 weeks of gestation (OR, 1.61 (P = 0.5); RD, 0.003 (P = 0.8)). Overall, the pooled rate of fetal loss was 2.0% (95% CI, 0.0-6.5%) in twin pregnancies undergoing CVS compared with 1.8% (95% CI, 0.3-4.2%) in those not undergoing CVS. CONCLUSION The risk of fetal loss following Amniocentesis and CVS in twins is lower than reported previously and the rate of fetal loss before 24 weeks of gestation, or within 4 weeks after the procedure, did not differ from the background risk in twin pregnancy not undergoing invasive prenatal testing. These data can guide prenatal counseling for twin pregnancies undergoing invasive procedures. © 2020 International Society of Ultrasound in Obstetrics and Gynecology.

  • procedure related risk of miscarriage following Amniocentesis and chorionic villus sampling a systematic review and meta analysis
    Ultrasound in Obstetrics & Gynecology, 2015
    Co-Authors: Ranjit Akolekar, Jarek Beta, G Picciarelli, C Ogilvie, F Dantonio
    Abstract:

    Objectives To estimate procedure-related risks of miscarriage following Amniocentesis and chorionic villus sampling (CVS) based on a systematic review of the literature and a meta-analysis. Methods A search of MEDLINE, EMBASE, CINHAL and The Cochrane Library (2000-2014) was performed to review relevant citations reporting procedure-related complications of Amniocentesis and CVS. Only studies reporting data on more than 1000 procedures were included in this review to minimize the effect of bias from smaller studies. Heterogeneity between studies was estimated using Cochran's Q, the I(2) statistic and Egger bias. Meta-analysis of proportions was used to derive weighted pooled estimates for the risk of miscarriage before 24 weeks' gestation. Incidence-rate difference meta-analysis was used to estimate pooled procedure-related risks. Results The weighted pooled risks of miscarriage following invasive procedures were estimated from analysis of controlled studies including 324 losses in 42 716 women who underwent Amniocentesis and 207 losses in 8899 women who underwent CVS. The risk of miscarriage prior to 24 weeks in women who underwent Amniocentesis and CVS was 0.81% (95% CI, 0.58-1.08%) and 2.18% (95% CI, 1.61-2.82%), respectively. The background rates of miscarriage in women from the control group that did not undergo any procedures were 0.67% (95% CI, 0.46-0.91%) for Amniocentesis and 1.79% (95% CI, 0.61-3.58%) for CVS. The weighted pooled procedure-related risks of miscarriage for Amniocentesis and CVS were 0.11% (95% CI, -0.04 to 0.26%) and 0.22% (95% CI, -0.71 to 1.16%), respectively. Conclusion The procedure-related risks of miscarriage following Amniocentesis and CVS are much lower than are currently quoted.

  • procedure related risk of miscarriage following Amniocentesis and chorionic villus sampling a systematic review and meta analysis
    Ultrasound in Obstetrics & Gynecology, 2015
    Co-Authors: Ranjit Akolekar, Jarek Beta, G Picciarelli, C Ogilvie, F Dantonio
    Abstract:

    Objectives To estimate procedure-related risks of miscarriage following Amniocentesis and chorionic villus sampling (CVS) based on a systematic review of the literature and a meta-analysis. Methods A search of MEDLINE, EMBASE, CINHAL and The Cochrane Library (2000–2014) was performed to review relevant citations reporting procedure-related complications of Amniocentesis and CVS. Only studies reporting data on more than 1000 procedures were included in this review to minimize the effect of bias from smaller studies. Heterogeneity between studies was estimated using Cochran's Q, the I2 statistic and Egger bias. Meta-analysis of proportions was used to derive weighted pooled estimates for the risk of miscarriage before 24 weeks' gestation. Incidence–rate difference meta-analysis was used to estimate pooled procedure-related risks. Results The weighted pooled risks of miscarriage following invasive procedures were estimated from analysis of controlled studies including 324 losses in 42 716 women who underwent Amniocentesis and 207 losses in 8899 women who underwent CVS. The risk of miscarriage prior to 24 weeks in women who underwent Amniocentesis and CVS was 0.81% (95% CI, 0.58–1.08%) and 2.18% (95% CI, 1.61–2.82%), respectively. The background rates of miscarriage in women from the control group that did not undergo any procedures were 0.67% (95% CI, 0.46–0.91%) for Amniocentesis and 1.79% (95% CI, 0.61–3.58%) for CVS. The weighted pooled procedure-related risks of miscarriage for Amniocentesis and CVS were 0.11% (95% CI, –0.04 to 0.26%) and 0.22% (95% CI, –0.71 to 1.16%), respectively. Conclusion The procedure-related risks of miscarriage following Amniocentesis and CVS are much lower than are currently quoted. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.

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  • analgesia for Amniocentesis or chorionic villus sampling
    Cochrane Database of Systematic Reviews, 2011
    Co-Authors: Faris Mujezinovic, Zarko Alfirevic
    Abstract:

    BACKGROUND Besides risks of miscarriage, pregnant women undergoing Amniocentesis or chorionic villus sampling (CVS) are also concerned about pain associated with these procedures. Currently, approaches to analgesia can be categorised in two broad categories - non-pharmacological and pharmacological agents. OBJECTIVES To evaluate whether different methods of analgesia have any impact on pain reduction during Amniocentesis or chorionic villus sampling (CVS). SEARCH METHODS We searched the Cochrane Pregnancy and Childbirth Group's Trials Register (31 August 2011). SELECTION CRITERIA All randomised trials comparing different method of analgesia for Amniocentesis or CVS. We also include trials with quasi-randomised designs, but analyse and report their results separately. DATA COLLECTION AND ANALYSIS Both review authors assessed eligibility and trial quality and performed data extraction. MAIN RESULTS We included a total of five randomised studies (involving 805 women) evaluating different methods of analgesia for Amniocentesis; there were no studies in women undergoing CVS.One RCT (N = 203) and one quasi-randomised study (N = 220) compared infiltrative local anaesthesia with no anaesthesia and found no statistical difference in experienced pain on the visual analogue scale (VAS) (mean differences (MD) -2.50 and 1.20; 95% confidence interval (CI) -6.98 to 1.98 and -2.67 to 5.07).One study (N = 200) compared light leg rubbing versus no intervention during Amniocentesis and found no change in experienced anxiety (MD 0.2; 95% CI -0.63 to 1.03) or VAS pain score (MD 0.3; 95% CI -0.35 to 0.95) during Amniocentesis.Another study with 62 patients did not find any benefit of using subfreezing temperature needle during Amniocentesis in terms of decreased VAS pain score (MD -0.8; 95% CI -1.8 to 0.2). In addition, there was no difference between anticipated and actual pain (MD 0.4; 95% CI -0.82 to 1.62) (before/after comparison).There was also no difference in VAS pain scores in the study with 120 participants comparing lidocaine-prilocaine analgesic cream to placebo cream before Amniocentesis (MD -0.6; 95% CI -1.44 to 0.24). AUTHORS' CONCLUSIONS In general, women who undergo Amniocentesis could be informed that pain during procedure is minor and that there is currently insufficient evidence to support the use of local anaesthetics, leg rubbing or subfreezing the needle for pain reduction during procedure.

  • techniques for chorionic villus sampling and Amniocentesis a survey of practice in specialist uk centres
    Prenatal Diagnosis, 2008
    Co-Authors: Andrew Carlin, Zarko Alfirevic
    Abstract:

    Objectives Guidelines exist for Amniocentesis and chorionic villous sampling (CVS) practice, but there is no consensus regarding individual techniques. Our survey sought to review current practice within specialist centres in the United Kingdom. Methods RCOG sub-specialist training centres were invited to complete a postal questionnaire, seeking their consultants' primary choices for Amniocentesis and CVS techniques. Information sought included needle choice, local anaesthetic (LA), suction methods, quantity of samples obtained; and with regard to CVS, preferred approach [transcervical (TC) or transabdominal (TA)]. Results Response rate was 96% providing information on 111 consultants (111 Amniocentesis/90 CVS). During Amniocentesis, 86% use 22G needles and 70% are helped by an assistant who aspirates a set liquor volume (69%). For CVS, 98% use a TA approach, 89% use LA, and 29% an 18G single needle with 38% preferring a 17/19G double needle but no clear consensus regarding the use of assistants. Conclusions There is some agreement among specialists in the United Kingdom regarding techniques for invasive prenatal diagnosis. For Amniocentesis, most operators use 22G needles, with an assistant to aspirate a set volume of fluid regardless of gestation. For CVS, there is considerable variation in needle choice, although most operators use a TA approach with LA. Copyright © 2008 John Wiley & Sons, Ltd.

  • procedure related complications of Amniocentesis and chorionic villous sampling a systematic review
    Obstetrics & Gynecology, 2007
    Co-Authors: Faris Mujezinovic, Zarko Alfirevic
    Abstract:

    OBJECTIVE: To compile a systematic review of complications related to genetic Amniocentesis and chorionic villus sampling (CVS) to provide benchmark data for counseling and performance assessment of individual operators. DATA SOURCES: We searched the MEDLINE database for articles published after January 1, 1995, that reported data for at least 100 women with singleton pregnancies with genetic Amniocentesis after 14 weeks of pregnancy and reports of CVS carried out transabdominally between 10 and 14 weeks. METHODS OF STUDY SELECTION: For Amniocentesis, 29 articles fulfilled search criteria. Sixteen studies fulfilled search criteria for CVS. TABULATION, INTEGRATION, AND RESULTS: After genetic Amniocentesis, pooled pregnancy loss within 14 days was 0.6% (95% confidence interval [CI] 0.5-0.7), rising to 0.9% (95% CI 0.6-1.3) for pregnancy loss before 24 weeks and 1.9% (95% CI 1.4-2.5) for total pregnancy loss. Corresponding figures for CVS were 0.7%, 1.3%, and 2%. The data on multiple insertions showed large heterogeneity, ranging from 0.2% to 2.9% for Amniocentesis (pooled risk 2.0%, 95% CI 0.9-3.6) and from 1.4% to 26.6% for CVS (pooled risk 7.8%, 95% CI 3.1-14.2). Only five Amniocentesis studies provided controls, but none was matched for gestational age. Pooled relative risks for fetal loss before 28 weeks and total pregnancy loss were 1.46 (95% CI 0.86-2.49) and 1.25 (95% CI 1.02-1.53), respectively. CONCLUSION: Although the risks of pregnancy loss are relatively low, lack of adequate controls tends to underestimate the true added risk of prenatal invasive procedures.

  • chorion villus sampling versus Amniocentesis for prenatal diagnosis
    Cochrane Database of Systematic Reviews, 1996
    Co-Authors: Zarko Alfirevic, C M Gosden, James P Neilson
    Abstract:

    Background Amniocentesis test results are usually available only after 18 weeks gestation. Chorion villus sampling (CVS) may be performed transabdominally or transvaginally, usually between 10 and 12 weeks gestation. Objectives The objective of this review was to assess the safety and accuracy of chorion villus sampling compared to Amniocentesis. Search strategy We searched the Cochrane Pregnancy and Childbirth Group trials register. Selection criteria Randomised trials comparing first trimester chorion villus sampling and second trimester Amniocentesis. Data collection and analysis Trial quality was assessed. Main results Three studies involving over 9000 women were included. The trials were generally of good quality. Compared to Amniocentesis, chorion villus sampling was associated with more sampling and technical failures, and more false positive and false negative results. Pregnancy loss was more common after chorion villus sampling (odds ratio 1.33, 95% confidence interval 1.17 to 1.52). There is a suggestion (though not statistically significant) of an increase in stillbirths and neonatal deaths following chorion villus sampling. Maternal complications were uncommon. Reviewer's conclusions The increase in miscarriages after chorion villus sampling compared to Amniocentesis appear to be procedure related. Second trimester Amniocentesis appears to be safer than chorion villus sampling. The benefits of earlier diagnosis with chorion villus sampling must be set against the greater risk of pregnancy loss.