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

  • Rapid diagnosis of trisomy 13 of maternal origin by quantitative fluorescent polymerase chain reaction analysis in a pregnancy with fetal holoprosencephaly, premaxillary agenesis, postaxial polydactyly of left hand and overriding aorta
    'Elsevier BV', 2021
    Co-Authors: Chihping Chen, Schu-rern Chern, Shin-wen Chen, Mang-shang Lee, Wayseen Wang
    Abstract:

    Objective: We present rapid diagnosis of trisomy 13 of maternal origin by quantitative fluorescent polymerase chain reaction (QF-PCR) in a pregnancy with multiple fetal abnormalities. Case report: A 35-year-old, primigravid woman was referred for amniocentesis at 24 weeks of gestation because of multiple congenital anomalies in the fetus. Prenatal ultrasound at 23 weeks of gestation revealed holoprosencephaly, premaxillary agenesis, postaxial polydactyly of the left hand and overriding aorta. Amniocentesis was performed subsequently, and QF-PCR analysis using the polymorphic DNA markers of D13S789 (13q22.3), D13S790 (13q31.1) and D13S767 (13q31.3) on the DNA extracted from uncultured Amniocytes and parental bloods showed trisomy 13 of maternal origin. Conventional cytogenetic analysis on the cultured Amniocytes confirmed trisomy 13. The pregnancy was subsequently terminated, and a malformed fetus was delivered with multiple anomalies consistent with the prenatal diagnosis. Conclusion: QF-PCR analysis is useful for rapid confirmation of trisomy 13 and the parental origin when prenatal ultrasound findings are suspicious of fetal trisomy 13

  • Mosaic Xq duplication, or 46,X,der(X)dup(X)(q22.1q22.2)dup(X)(q25q22.3)/ 46,XX at amniocentesis in a pregnancy with a favorable outcome
    'Elsevier BV', 2021
    Co-Authors: Chihping Chen, Schu-rern Chern, Shin-wen Chen, Meng-shan Lee, Yunyi Chen, Wayseen Wang
    Abstract:

    Objective: We present mosaic Xq duplication, or 46,X,der(X)dup(X)(q22.1q22.2)dup(X)(q25q22.3)/46,XX at amniocentesis in a pregnancy with a favorable outcome. Case Report: A 40-year-old woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age. Amniocentesis revealed a result of 46,X,der(X)dup(X)(q22.1q22.2)dup(X)(q25q22.3)[7]/46,XX[20]. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured Amniocytes revealed the result of arr (1–22, X) × 2. Cytogenetic analysis on maternal blood revealed a karyotype of 46,XX. At 22 weeks of gestation, she underwent repeat amniocentesis which revealed a karyotype of 46,XX in 22/22 colonies of cultured Amniocytes and an aCGH result of (1–22, X) × 2 in the uncultured Amniocytes. Prenatal ultrasound findings were unremarkable. The parents decided to continue the pregnancy, and a healthy female baby was delivered at 39 weeks of gestation with a body weight of 3510 g and a body length of 49 cm. The cord blood had a karyotype of 46,X,der(X)dup(X)(q22.1q22.2)dup(X)(q25q22.3)[3]/46,XX[37]. At age two months, interphase fluorescence in situ hybridization (FISH) analysis on buccal mucosal cells showed Xq duplication signals in 1.25% (1/80 cells), compared with 0% (0/90 cells) in the normal control. At age nine months, the neonate had normal physical and psychomotor development. Her body weight was 9.6 Kg (85th - 97th centile), and body length was 72 cm (50th - 85th centile). Cytogenetic analysis of peripheral blood revealed a karyotype of 46,X,der(X)dup(X) (q22.1q22.2)dup(X)(q25q22.3)[1]/46,XX[39]. Interphase FISH analysis on 100 buccal mucosal cells revealed no abnormal signal. Conclusion: In case of mosaicism for an Xq duplication with a normal euploid cell line at amniocentesis, the in-vitro culture process of Amniocytes may cause over-estimation of the mosaic level for the aberrant chromosome because of culture artifacts, and the abnormal cell line can decline after birth

  • prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from inv dup 15
    Taiwanese Journal of Obstetrics & Gynecology, 2020
    Co-Authors: Chihping Chen, Schu-rern Chern, Shin-wen Chen, Chen-wen Pan, Yunyi Chen, Liang-kai Wang, Daidyi Town, Hsiangyu Lin, Sisca Fran, Wayseen Wang
    Abstract:

    Abstract Objective We present prenatal diagnosis and molecular cytogenetic characterization of an inverted duplication of proximal chromosome 15 [inv dup(15)] presenting as a small supernumerary marker chromosome (sSMC) at amniocentesis associated with concomitant microduplication of 8q22.1. Materials and methods A 39-year-old woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age, and the result was 47, XY, +mar dn. The woman requested for repeat amniocentesis at 20 weeks of gestation. Array comparative genomic hybridization (aCGH), fluorescence in situ hybridization (FISH), quantitative fluorescent polymerase chain reaction (QF-PCR) and DNA methylation analysis were applied to determine the nature of the sSMC. Results: aCGH on the uncultured Amniocytes revealed the result of arr 8q22.1 (93,918,763–96,618,539) × 3.0, arr 15q11.2q13.2 (22,765,628–30,658,876) × 4.0, arr 15q13.2q13.3 (30,653,877–32,509,926) × 3.0 [GRCh37 (hg19)]. Interphase FISH analysis using RP11-34H12 [15q13.2; Texas Red, 30,709,033–30,893,021 (hg19)] on 100 uncultured Amniocytes showed that 38 cells had three signals, 45 cells had four signals and 27 cells had two signals. The parental bloods had normal aCGH results. The karyotype of cultured Amniocytes was 47, XY, +inv dup(15) (pter→q13::q13→pter) which was confirmed by metaphase FISH analysis. No informative markers could be found in QF-PCR analysis. DNA methylation analysis on cord blood confirmed a maternal origin of the 15q11-q13 gene dosage increase with a result of 15q11.2 SNRPN DNA hypermethylation. Postnatal cytogenetic analysis on cord blood, umbilical cord and placenta showed the results consistent with the prenatal diagnosis. Conclusion Molecular cytogenetic techniques are useful for rapid diagnosis of an inv dup(15) chromosome presenting as an sSMC at amniocentesis.

  • wolf hirschhorn syndrome prenatal diagnosis and molecular cytogenetic characterization of a de novo distal deletion of 4p 4p16 1 pter in a fetus with facial cleft and preaxial polydactyly
    Taiwanese Journal of Obstetrics & Gynecology, 2020
    Co-Authors: Chihping Chen, Li Feng Chen, Schu-rern Chern, Shin-wen Chen, Yunyi Chen, Liang-kai Wang, Wayseen Wang
    Abstract:

    Abstract Objective We present prenatal diagnosis and molecular cytogenetic characterization of Wolf–Hirschhorn syndrome (WHS) in a fetus with facial cleft and preaxial polydactyly. Materials and methods A 37-year-old woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age, and the result showed an aberrant chromosome 4 or 46,XX,add(4) (p15.3). The woman consulted our clinics at 22 weeks of gestation and requested for repeat amniocentesis. Prenatal ultrasound revealed intrauterine growth restriction, facial cleft, vermian hypoplasia of cerebellum, micrognathia and absent stomach. Conventional cytogenetic analysis was performed on cultured Amniocytes, parental bloods and cord blood. Array comparative genomic hybridization (aCGH) and quantitative fluorescent polymerase chain reaction (QF-PCR) were performed on the DNAs extracted from uncultured Amniocytes and parental bloods. Fluorescence in situ hybridization (FISH) analysis was performed on cultured metaphase Amniocytes. Results aCGH analysis on uncultured Amniocytes revealed arr 4p16.3p16.1 (74,447–8,732,731) × 1.0 [GRCh37 (hg19)] with an 8.66-Mb deletion of 4p16.3-p16.1 encompassing 70 [Online Mendelian Inheritance of in Man (OMIM)] genes including ZNF141, FGFRL1, TACC3, LETM1, NSD2 and NELFA. QF-PCR revealed a paternal origin of the distal 4p deletion. Conventional cytogenetic analysis revealed 46,XX,del(4) (p16.1)dn in the fetus. Metaphase FISH analysis confirmed a 4p16 deletion. The parental karyotypes were normal. The pregnancy was subsequently terminated, and a malformed fetus was delivered with typical WHS facial dysmorphism, bilateral cleft lip and palate, and preaxial polydactyly on the right hand. Conclusion aCGH, QF-PCR and FISH help to delineate the nature of a prenatally defected aberrant chromosome, and the acquired information is useful for genetic counseling.

  • 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, Shin-wen Chen, Daidyi Town, 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.

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

  • Rapid diagnosis of trisomy 13 of maternal origin by quantitative fluorescent polymerase chain reaction analysis in a pregnancy with fetal holoprosencephaly, premaxillary agenesis, postaxial polydactyly of left hand and overriding aorta
    'Elsevier BV', 2021
    Co-Authors: Chihping Chen, Schu-rern Chern, Shin-wen Chen, Mang-shang Lee, Wayseen Wang
    Abstract:

    Objective: We present rapid diagnosis of trisomy 13 of maternal origin by quantitative fluorescent polymerase chain reaction (QF-PCR) in a pregnancy with multiple fetal abnormalities. Case report: A 35-year-old, primigravid woman was referred for amniocentesis at 24 weeks of gestation because of multiple congenital anomalies in the fetus. Prenatal ultrasound at 23 weeks of gestation revealed holoprosencephaly, premaxillary agenesis, postaxial polydactyly of the left hand and overriding aorta. Amniocentesis was performed subsequently, and QF-PCR analysis using the polymorphic DNA markers of D13S789 (13q22.3), D13S790 (13q31.1) and D13S767 (13q31.3) on the DNA extracted from uncultured Amniocytes and parental bloods showed trisomy 13 of maternal origin. Conventional cytogenetic analysis on the cultured Amniocytes confirmed trisomy 13. The pregnancy was subsequently terminated, and a malformed fetus was delivered with multiple anomalies consistent with the prenatal diagnosis. Conclusion: QF-PCR analysis is useful for rapid confirmation of trisomy 13 and the parental origin when prenatal ultrasound findings are suspicious of fetal trisomy 13

  • Mosaic Xq duplication, or 46,X,der(X)dup(X)(q22.1q22.2)dup(X)(q25q22.3)/ 46,XX at amniocentesis in a pregnancy with a favorable outcome
    'Elsevier BV', 2021
    Co-Authors: Chihping Chen, Schu-rern Chern, Shin-wen Chen, Meng-shan Lee, Yunyi Chen, Wayseen Wang
    Abstract:

    Objective: We present mosaic Xq duplication, or 46,X,der(X)dup(X)(q22.1q22.2)dup(X)(q25q22.3)/46,XX at amniocentesis in a pregnancy with a favorable outcome. Case Report: A 40-year-old woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age. Amniocentesis revealed a result of 46,X,der(X)dup(X)(q22.1q22.2)dup(X)(q25q22.3)[7]/46,XX[20]. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured Amniocytes revealed the result of arr (1–22, X) × 2. Cytogenetic analysis on maternal blood revealed a karyotype of 46,XX. At 22 weeks of gestation, she underwent repeat amniocentesis which revealed a karyotype of 46,XX in 22/22 colonies of cultured Amniocytes and an aCGH result of (1–22, X) × 2 in the uncultured Amniocytes. Prenatal ultrasound findings were unremarkable. The parents decided to continue the pregnancy, and a healthy female baby was delivered at 39 weeks of gestation with a body weight of 3510 g and a body length of 49 cm. The cord blood had a karyotype of 46,X,der(X)dup(X)(q22.1q22.2)dup(X)(q25q22.3)[3]/46,XX[37]. At age two months, interphase fluorescence in situ hybridization (FISH) analysis on buccal mucosal cells showed Xq duplication signals in 1.25% (1/80 cells), compared with 0% (0/90 cells) in the normal control. At age nine months, the neonate had normal physical and psychomotor development. Her body weight was 9.6 Kg (85th - 97th centile), and body length was 72 cm (50th - 85th centile). Cytogenetic analysis of peripheral blood revealed a karyotype of 46,X,der(X)dup(X) (q22.1q22.2)dup(X)(q25q22.3)[1]/46,XX[39]. Interphase FISH analysis on 100 buccal mucosal cells revealed no abnormal signal. Conclusion: In case of mosaicism for an Xq duplication with a normal euploid cell line at amniocentesis, the in-vitro culture process of Amniocytes may cause over-estimation of the mosaic level for the aberrant chromosome because of culture artifacts, and the abnormal cell line can decline after birth

  • prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from inv dup 15
    Taiwanese Journal of Obstetrics & Gynecology, 2020
    Co-Authors: Chihping Chen, Schu-rern Chern, Shin-wen Chen, Chen-wen Pan, Yunyi Chen, Liang-kai Wang, Daidyi Town, Hsiangyu Lin, Sisca Fran, Wayseen Wang
    Abstract:

    Abstract Objective We present prenatal diagnosis and molecular cytogenetic characterization of an inverted duplication of proximal chromosome 15 [inv dup(15)] presenting as a small supernumerary marker chromosome (sSMC) at amniocentesis associated with concomitant microduplication of 8q22.1. Materials and methods A 39-year-old woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age, and the result was 47, XY, +mar dn. The woman requested for repeat amniocentesis at 20 weeks of gestation. Array comparative genomic hybridization (aCGH), fluorescence in situ hybridization (FISH), quantitative fluorescent polymerase chain reaction (QF-PCR) and DNA methylation analysis were applied to determine the nature of the sSMC. Results: aCGH on the uncultured Amniocytes revealed the result of arr 8q22.1 (93,918,763–96,618,539) × 3.0, arr 15q11.2q13.2 (22,765,628–30,658,876) × 4.0, arr 15q13.2q13.3 (30,653,877–32,509,926) × 3.0 [GRCh37 (hg19)]. Interphase FISH analysis using RP11-34H12 [15q13.2; Texas Red, 30,709,033–30,893,021 (hg19)] on 100 uncultured Amniocytes showed that 38 cells had three signals, 45 cells had four signals and 27 cells had two signals. The parental bloods had normal aCGH results. The karyotype of cultured Amniocytes was 47, XY, +inv dup(15) (pter→q13::q13→pter) which was confirmed by metaphase FISH analysis. No informative markers could be found in QF-PCR analysis. DNA methylation analysis on cord blood confirmed a maternal origin of the 15q11-q13 gene dosage increase with a result of 15q11.2 SNRPN DNA hypermethylation. Postnatal cytogenetic analysis on cord blood, umbilical cord and placenta showed the results consistent with the prenatal diagnosis. Conclusion Molecular cytogenetic techniques are useful for rapid diagnosis of an inv dup(15) chromosome presenting as an sSMC at amniocentesis.

  • wolf hirschhorn syndrome prenatal diagnosis and molecular cytogenetic characterization of a de novo distal deletion of 4p 4p16 1 pter in a fetus with facial cleft and preaxial polydactyly
    Taiwanese Journal of Obstetrics & Gynecology, 2020
    Co-Authors: Chihping Chen, Li Feng Chen, Schu-rern Chern, Shin-wen Chen, Yunyi Chen, Liang-kai Wang, Wayseen Wang
    Abstract:

    Abstract Objective We present prenatal diagnosis and molecular cytogenetic characterization of Wolf–Hirschhorn syndrome (WHS) in a fetus with facial cleft and preaxial polydactyly. Materials and methods A 37-year-old woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age, and the result showed an aberrant chromosome 4 or 46,XX,add(4) (p15.3). The woman consulted our clinics at 22 weeks of gestation and requested for repeat amniocentesis. Prenatal ultrasound revealed intrauterine growth restriction, facial cleft, vermian hypoplasia of cerebellum, micrognathia and absent stomach. Conventional cytogenetic analysis was performed on cultured Amniocytes, parental bloods and cord blood. Array comparative genomic hybridization (aCGH) and quantitative fluorescent polymerase chain reaction (QF-PCR) were performed on the DNAs extracted from uncultured Amniocytes and parental bloods. Fluorescence in situ hybridization (FISH) analysis was performed on cultured metaphase Amniocytes. Results aCGH analysis on uncultured Amniocytes revealed arr 4p16.3p16.1 (74,447–8,732,731) × 1.0 [GRCh37 (hg19)] with an 8.66-Mb deletion of 4p16.3-p16.1 encompassing 70 [Online Mendelian Inheritance of in Man (OMIM)] genes including ZNF141, FGFRL1, TACC3, LETM1, NSD2 and NELFA. QF-PCR revealed a paternal origin of the distal 4p deletion. Conventional cytogenetic analysis revealed 46,XX,del(4) (p16.1)dn in the fetus. Metaphase FISH analysis confirmed a 4p16 deletion. The parental karyotypes were normal. The pregnancy was subsequently terminated, and a malformed fetus was delivered with typical WHS facial dysmorphism, bilateral cleft lip and palate, and preaxial polydactyly on the right hand. Conclusion aCGH, QF-PCR and FISH help to delineate the nature of a prenatally defected aberrant chromosome, and the acquired information is useful for genetic counseling.

  • 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, Shin-wen Chen, Daidyi Town, 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.

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

  • Mosaic Xq duplication, or 46,X,der(X)dup(X)(q22.1q22.2)dup(X)(q25q22.3)/ 46,XX at amniocentesis in a pregnancy with a favorable outcome
    'Elsevier BV', 2021
    Co-Authors: Chihping Chen, Schu-rern Chern, Shin-wen Chen, Meng-shan Lee, Yunyi Chen, Wayseen Wang
    Abstract:

    Objective: We present mosaic Xq duplication, or 46,X,der(X)dup(X)(q22.1q22.2)dup(X)(q25q22.3)/46,XX at amniocentesis in a pregnancy with a favorable outcome. Case Report: A 40-year-old woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age. Amniocentesis revealed a result of 46,X,der(X)dup(X)(q22.1q22.2)dup(X)(q25q22.3)[7]/46,XX[20]. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured Amniocytes revealed the result of arr (1–22, X) × 2. Cytogenetic analysis on maternal blood revealed a karyotype of 46,XX. At 22 weeks of gestation, she underwent repeat amniocentesis which revealed a karyotype of 46,XX in 22/22 colonies of cultured Amniocytes and an aCGH result of (1–22, X) × 2 in the uncultured Amniocytes. Prenatal ultrasound findings were unremarkable. The parents decided to continue the pregnancy, and a healthy female baby was delivered at 39 weeks of gestation with a body weight of 3510 g and a body length of 49 cm. The cord blood had a karyotype of 46,X,der(X)dup(X)(q22.1q22.2)dup(X)(q25q22.3)[3]/46,XX[37]. At age two months, interphase fluorescence in situ hybridization (FISH) analysis on buccal mucosal cells showed Xq duplication signals in 1.25% (1/80 cells), compared with 0% (0/90 cells) in the normal control. At age nine months, the neonate had normal physical and psychomotor development. Her body weight was 9.6 Kg (85th - 97th centile), and body length was 72 cm (50th - 85th centile). Cytogenetic analysis of peripheral blood revealed a karyotype of 46,X,der(X)dup(X) (q22.1q22.2)dup(X)(q25q22.3)[1]/46,XX[39]. Interphase FISH analysis on 100 buccal mucosal cells revealed no abnormal signal. Conclusion: In case of mosaicism for an Xq duplication with a normal euploid cell line at amniocentesis, the in-vitro culture process of Amniocytes may cause over-estimation of the mosaic level for the aberrant chromosome because of culture artifacts, and the abnormal cell line can decline after birth

  • Rapid diagnosis of trisomy 13 of maternal origin by quantitative fluorescent polymerase chain reaction analysis in a pregnancy with fetal holoprosencephaly, premaxillary agenesis, postaxial polydactyly of left hand and overriding aorta
    'Elsevier BV', 2021
    Co-Authors: Chihping Chen, Schu-rern Chern, Shin-wen Chen, Mang-shang Lee, Wayseen Wang
    Abstract:

    Objective: We present rapid diagnosis of trisomy 13 of maternal origin by quantitative fluorescent polymerase chain reaction (QF-PCR) in a pregnancy with multiple fetal abnormalities. Case report: A 35-year-old, primigravid woman was referred for amniocentesis at 24 weeks of gestation because of multiple congenital anomalies in the fetus. Prenatal ultrasound at 23 weeks of gestation revealed holoprosencephaly, premaxillary agenesis, postaxial polydactyly of the left hand and overriding aorta. Amniocentesis was performed subsequently, and QF-PCR analysis using the polymorphic DNA markers of D13S789 (13q22.3), D13S790 (13q31.1) and D13S767 (13q31.3) on the DNA extracted from uncultured Amniocytes and parental bloods showed trisomy 13 of maternal origin. Conventional cytogenetic analysis on the cultured Amniocytes confirmed trisomy 13. The pregnancy was subsequently terminated, and a malformed fetus was delivered with multiple anomalies consistent with the prenatal diagnosis. Conclusion: QF-PCR analysis is useful for rapid confirmation of trisomy 13 and the parental origin when prenatal ultrasound findings are suspicious of fetal trisomy 13

  • prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from inv dup 15
    Taiwanese Journal of Obstetrics & Gynecology, 2020
    Co-Authors: Chihping Chen, Schu-rern Chern, Shin-wen Chen, Chen-wen Pan, Yunyi Chen, Liang-kai Wang, Daidyi Town, Hsiangyu Lin, Sisca Fran, Wayseen Wang
    Abstract:

    Abstract Objective We present prenatal diagnosis and molecular cytogenetic characterization of an inverted duplication of proximal chromosome 15 [inv dup(15)] presenting as a small supernumerary marker chromosome (sSMC) at amniocentesis associated with concomitant microduplication of 8q22.1. Materials and methods A 39-year-old woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age, and the result was 47, XY, +mar dn. The woman requested for repeat amniocentesis at 20 weeks of gestation. Array comparative genomic hybridization (aCGH), fluorescence in situ hybridization (FISH), quantitative fluorescent polymerase chain reaction (QF-PCR) and DNA methylation analysis were applied to determine the nature of the sSMC. Results: aCGH on the uncultured Amniocytes revealed the result of arr 8q22.1 (93,918,763–96,618,539) × 3.0, arr 15q11.2q13.2 (22,765,628–30,658,876) × 4.0, arr 15q13.2q13.3 (30,653,877–32,509,926) × 3.0 [GRCh37 (hg19)]. Interphase FISH analysis using RP11-34H12 [15q13.2; Texas Red, 30,709,033–30,893,021 (hg19)] on 100 uncultured Amniocytes showed that 38 cells had three signals, 45 cells had four signals and 27 cells had two signals. The parental bloods had normal aCGH results. The karyotype of cultured Amniocytes was 47, XY, +inv dup(15) (pter→q13::q13→pter) which was confirmed by metaphase FISH analysis. No informative markers could be found in QF-PCR analysis. DNA methylation analysis on cord blood confirmed a maternal origin of the 15q11-q13 gene dosage increase with a result of 15q11.2 SNRPN DNA hypermethylation. Postnatal cytogenetic analysis on cord blood, umbilical cord and placenta showed the results consistent with the prenatal diagnosis. Conclusion Molecular cytogenetic techniques are useful for rapid diagnosis of an inv dup(15) chromosome presenting as an sSMC at amniocentesis.

  • wolf hirschhorn syndrome prenatal diagnosis and molecular cytogenetic characterization of a de novo distal deletion of 4p 4p16 1 pter in a fetus with facial cleft and preaxial polydactyly
    Taiwanese Journal of Obstetrics & Gynecology, 2020
    Co-Authors: Chihping Chen, Li Feng Chen, Schu-rern Chern, Shin-wen Chen, Yunyi Chen, Liang-kai Wang, Wayseen Wang
    Abstract:

    Abstract Objective We present prenatal diagnosis and molecular cytogenetic characterization of Wolf–Hirschhorn syndrome (WHS) in a fetus with facial cleft and preaxial polydactyly. Materials and methods A 37-year-old woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age, and the result showed an aberrant chromosome 4 or 46,XX,add(4) (p15.3). The woman consulted our clinics at 22 weeks of gestation and requested for repeat amniocentesis. Prenatal ultrasound revealed intrauterine growth restriction, facial cleft, vermian hypoplasia of cerebellum, micrognathia and absent stomach. Conventional cytogenetic analysis was performed on cultured Amniocytes, parental bloods and cord blood. Array comparative genomic hybridization (aCGH) and quantitative fluorescent polymerase chain reaction (QF-PCR) were performed on the DNAs extracted from uncultured Amniocytes and parental bloods. Fluorescence in situ hybridization (FISH) analysis was performed on cultured metaphase Amniocytes. Results aCGH analysis on uncultured Amniocytes revealed arr 4p16.3p16.1 (74,447–8,732,731) × 1.0 [GRCh37 (hg19)] with an 8.66-Mb deletion of 4p16.3-p16.1 encompassing 70 [Online Mendelian Inheritance of in Man (OMIM)] genes including ZNF141, FGFRL1, TACC3, LETM1, NSD2 and NELFA. QF-PCR revealed a paternal origin of the distal 4p deletion. Conventional cytogenetic analysis revealed 46,XX,del(4) (p16.1)dn in the fetus. Metaphase FISH analysis confirmed a 4p16 deletion. The parental karyotypes were normal. The pregnancy was subsequently terminated, and a malformed fetus was delivered with typical WHS facial dysmorphism, bilateral cleft lip and palate, and preaxial polydactyly on the right hand. Conclusion aCGH, QF-PCR and FISH help to delineate the nature of a prenatally defected aberrant chromosome, and the acquired information is useful for genetic counseling.

  • 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, Shin-wen Chen, Daidyi Town, 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.

Daidyi Town - One of the best experts on this subject based on the ideXlab platform.

  • prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from inv dup 15
    Taiwanese Journal of Obstetrics & Gynecology, 2020
    Co-Authors: Chihping Chen, Schu-rern Chern, Shin-wen Chen, Chen-wen Pan, Yunyi Chen, Liang-kai Wang, Daidyi Town, Hsiangyu Lin, Sisca Fran, Wayseen Wang
    Abstract:

    Abstract Objective We present prenatal diagnosis and molecular cytogenetic characterization of an inverted duplication of proximal chromosome 15 [inv dup(15)] presenting as a small supernumerary marker chromosome (sSMC) at amniocentesis associated with concomitant microduplication of 8q22.1. Materials and methods A 39-year-old woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age, and the result was 47, XY, +mar dn. The woman requested for repeat amniocentesis at 20 weeks of gestation. Array comparative genomic hybridization (aCGH), fluorescence in situ hybridization (FISH), quantitative fluorescent polymerase chain reaction (QF-PCR) and DNA methylation analysis were applied to determine the nature of the sSMC. Results: aCGH on the uncultured Amniocytes revealed the result of arr 8q22.1 (93,918,763–96,618,539) × 3.0, arr 15q11.2q13.2 (22,765,628–30,658,876) × 4.0, arr 15q13.2q13.3 (30,653,877–32,509,926) × 3.0 [GRCh37 (hg19)]. Interphase FISH analysis using RP11-34H12 [15q13.2; Texas Red, 30,709,033–30,893,021 (hg19)] on 100 uncultured Amniocytes showed that 38 cells had three signals, 45 cells had four signals and 27 cells had two signals. The parental bloods had normal aCGH results. The karyotype of cultured Amniocytes was 47, XY, +inv dup(15) (pter→q13::q13→pter) which was confirmed by metaphase FISH analysis. No informative markers could be found in QF-PCR analysis. DNA methylation analysis on cord blood confirmed a maternal origin of the 15q11-q13 gene dosage increase with a result of 15q11.2 SNRPN DNA hypermethylation. Postnatal cytogenetic analysis on cord blood, umbilical cord and placenta showed the results consistent with the prenatal diagnosis. Conclusion Molecular cytogenetic techniques are useful for rapid diagnosis of an inv dup(15) chromosome presenting as an sSMC at amniocentesis.

  • 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, Shin-wen Chen, Daidyi Town, 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.

  • 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, Shin-wen Chen, Tzu-yun Chuang, Daidyi Town, 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 mosaicism for a small supernumerary marker chromosome derived from chromosome 2
    Taiwanese Journal of Obstetrics & Gynecology, 2017
    Co-Authors: Chihping Chen, Yenni Chen, Schu-rern Chern, Ming Chen, Shin-wen Chen, Shun-ping Chang, Chen-chi Lee, Meng-shan Lee, Fangyu Hung, Daidyi Town
    Abstract:

    Abstract Objective We present prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 2. Case Report A 42-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XY,+mar[10]/46,XY[12]. The parental karyotypes were normal. Array comparative genomic hybridization analysis of the DNA extracted from cultured Amniocytes revealed no genomic imbalance. Spectral karyotyping analysis failed to identify the sSMC. Metaphase fluorescence in situ hybridization analysis using the satellite probes CEP1/5/19, CEP2, CEP3, CEP4, CEP6, CEP7, CEP8, CEP9, CEP10, CEP12, CEP13/21, CEP14/22, CEP15, CEP16, and CEP20 revealed a result of 47,XY,+mar .ish der(2)(D2Z+)[10]. The sSMC was derived from the α satellite of chromosome 2. Polymorphic DNA marker analysis using the markers specific for chromosome 2 on the DNAs extracted from cultured Amniocytes and parental bloods excluded uniparental disomy 2. At 39 weeks of gestation, a healthy 3394-g male baby was delivered with no phenotypic abnormality. The cord blood had a karyotype of 47,XY,+mar[21]/46,XY[19]. Conclusion Array comparative genomic hybridization and spectral karyotyping may fail to detect an sSMC derived from α satellite, which needs satellite probes for confirmation.

  • mosaic trisomy 17 at amniocentesis prenatal diagnosis molecular genetic analysis and literature review
    Taiwanese Journal of Obstetrics & Gynecology, 2016
    Co-Authors: Chihping Chen, Yenni Chen, Chienwen Yang, Schu-rern Chern, Wayseen Wang, Shin-wen Chen, Chen-wen Pan, Liang-kai Wang, Daidyi Town
    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.

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

  • Rapid diagnosis of trisomy 13 of maternal origin by quantitative fluorescent polymerase chain reaction analysis in a pregnancy with fetal holoprosencephaly, premaxillary agenesis, postaxial polydactyly of left hand and overriding aorta
    'Elsevier BV', 2021
    Co-Authors: Chihping Chen, Schu-rern Chern, Shin-wen Chen, Mang-shang Lee, Wayseen Wang
    Abstract:

    Objective: We present rapid diagnosis of trisomy 13 of maternal origin by quantitative fluorescent polymerase chain reaction (QF-PCR) in a pregnancy with multiple fetal abnormalities. Case report: A 35-year-old, primigravid woman was referred for amniocentesis at 24 weeks of gestation because of multiple congenital anomalies in the fetus. Prenatal ultrasound at 23 weeks of gestation revealed holoprosencephaly, premaxillary agenesis, postaxial polydactyly of the left hand and overriding aorta. Amniocentesis was performed subsequently, and QF-PCR analysis using the polymorphic DNA markers of D13S789 (13q22.3), D13S790 (13q31.1) and D13S767 (13q31.3) on the DNA extracted from uncultured Amniocytes and parental bloods showed trisomy 13 of maternal origin. Conventional cytogenetic analysis on the cultured Amniocytes confirmed trisomy 13. The pregnancy was subsequently terminated, and a malformed fetus was delivered with multiple anomalies consistent with the prenatal diagnosis. Conclusion: QF-PCR analysis is useful for rapid confirmation of trisomy 13 and the parental origin when prenatal ultrasound findings are suspicious of fetal trisomy 13

  • Mosaic Xq duplication, or 46,X,der(X)dup(X)(q22.1q22.2)dup(X)(q25q22.3)/ 46,XX at amniocentesis in a pregnancy with a favorable outcome
    'Elsevier BV', 2021
    Co-Authors: Chihping Chen, Schu-rern Chern, Shin-wen Chen, Meng-shan Lee, Yunyi Chen, Wayseen Wang
    Abstract:

    Objective: We present mosaic Xq duplication, or 46,X,der(X)dup(X)(q22.1q22.2)dup(X)(q25q22.3)/46,XX at amniocentesis in a pregnancy with a favorable outcome. Case Report: A 40-year-old woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age. Amniocentesis revealed a result of 46,X,der(X)dup(X)(q22.1q22.2)dup(X)(q25q22.3)[7]/46,XX[20]. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured Amniocytes revealed the result of arr (1–22, X) × 2. Cytogenetic analysis on maternal blood revealed a karyotype of 46,XX. At 22 weeks of gestation, she underwent repeat amniocentesis which revealed a karyotype of 46,XX in 22/22 colonies of cultured Amniocytes and an aCGH result of (1–22, X) × 2 in the uncultured Amniocytes. Prenatal ultrasound findings were unremarkable. The parents decided to continue the pregnancy, and a healthy female baby was delivered at 39 weeks of gestation with a body weight of 3510 g and a body length of 49 cm. The cord blood had a karyotype of 46,X,der(X)dup(X)(q22.1q22.2)dup(X)(q25q22.3)[3]/46,XX[37]. At age two months, interphase fluorescence in situ hybridization (FISH) analysis on buccal mucosal cells showed Xq duplication signals in 1.25% (1/80 cells), compared with 0% (0/90 cells) in the normal control. At age nine months, the neonate had normal physical and psychomotor development. Her body weight was 9.6 Kg (85th - 97th centile), and body length was 72 cm (50th - 85th centile). Cytogenetic analysis of peripheral blood revealed a karyotype of 46,X,der(X)dup(X) (q22.1q22.2)dup(X)(q25q22.3)[1]/46,XX[39]. Interphase FISH analysis on 100 buccal mucosal cells revealed no abnormal signal. Conclusion: In case of mosaicism for an Xq duplication with a normal euploid cell line at amniocentesis, the in-vitro culture process of Amniocytes may cause over-estimation of the mosaic level for the aberrant chromosome because of culture artifacts, and the abnormal cell line can decline after birth

  • prenatal diagnosis of mosaicism for trisomy 12 in a single colony at amniocentesis in a pregnancy with a favorable outcome
    Taiwanese Journal of Obstetrics & Gynecology, 2020
    Co-Authors: Shin-wen Chen, Wen Lin Chen, Yunyi Chen
    Abstract:

    Abstract Objective We present prenatal diagnosis of mosaicism for trisomy 12 in a single colony at amniocentesis with a favorable outcome. Case report A 36-year-old woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XY,+12[1]/46,XY[14]. In 15 colonies of cultured Amniocytes, all three cells in one colony had the karyotype of 47,XY,+12, while the rest 14 colonies had the karyotype of 46,XY. The parental karyotypes were normal. Prenatal ultrasound findings were unremarkable. Polymorphic DNA marker analysis using the DNAs extracted from cultured Amniocytes and parental bloods excluded uniparental disomy (UPD) 12. At 37 weeks of gestation, a healthy 2,828-g male baby was delivered with no phenotypic abnormality. The cord blood had a karyotype of 46,XY in 40/40 lymphocytes. Postnatal interphase fluorescence in situ hybridization (FISH) analysis on buccal cells and urinary cells revealed normal signals in 72/72 buccal cells, and trisomy 12 signals in 1/47 (2.1%) urinary cells compared with 0% (0/75 cells) of trisomy 12 signals in the normal control. Conclusion Mosaicism for trisomy 12 in a single colony at amniocentesis without UPD 12 and fetal ultrasound abnormalities can be associated with a favorable outcome.

  • prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from inv dup 15
    Taiwanese Journal of Obstetrics & Gynecology, 2020
    Co-Authors: Chihping Chen, Schu-rern Chern, Shin-wen Chen, Chen-wen Pan, Yunyi Chen, Liang-kai Wang, Daidyi Town, Hsiangyu Lin, Sisca Fran, Wayseen Wang
    Abstract:

    Abstract Objective We present prenatal diagnosis and molecular cytogenetic characterization of an inverted duplication of proximal chromosome 15 [inv dup(15)] presenting as a small supernumerary marker chromosome (sSMC) at amniocentesis associated with concomitant microduplication of 8q22.1. Materials and methods A 39-year-old woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age, and the result was 47, XY, +mar dn. The woman requested for repeat amniocentesis at 20 weeks of gestation. Array comparative genomic hybridization (aCGH), fluorescence in situ hybridization (FISH), quantitative fluorescent polymerase chain reaction (QF-PCR) and DNA methylation analysis were applied to determine the nature of the sSMC. Results: aCGH on the uncultured Amniocytes revealed the result of arr 8q22.1 (93,918,763–96,618,539) × 3.0, arr 15q11.2q13.2 (22,765,628–30,658,876) × 4.0, arr 15q13.2q13.3 (30,653,877–32,509,926) × 3.0 [GRCh37 (hg19)]. Interphase FISH analysis using RP11-34H12 [15q13.2; Texas Red, 30,709,033–30,893,021 (hg19)] on 100 uncultured Amniocytes showed that 38 cells had three signals, 45 cells had four signals and 27 cells had two signals. The parental bloods had normal aCGH results. The karyotype of cultured Amniocytes was 47, XY, +inv dup(15) (pter→q13::q13→pter) which was confirmed by metaphase FISH analysis. No informative markers could be found in QF-PCR analysis. DNA methylation analysis on cord blood confirmed a maternal origin of the 15q11-q13 gene dosage increase with a result of 15q11.2 SNRPN DNA hypermethylation. Postnatal cytogenetic analysis on cord blood, umbilical cord and placenta showed the results consistent with the prenatal diagnosis. Conclusion Molecular cytogenetic techniques are useful for rapid diagnosis of an inv dup(15) chromosome presenting as an sSMC at amniocentesis.

  • wolf hirschhorn syndrome prenatal diagnosis and molecular cytogenetic characterization of a de novo distal deletion of 4p 4p16 1 pter in a fetus with facial cleft and preaxial polydactyly
    Taiwanese Journal of Obstetrics & Gynecology, 2020
    Co-Authors: Chihping Chen, Li Feng Chen, Schu-rern Chern, Shin-wen Chen, Yunyi Chen, Liang-kai Wang, Wayseen Wang
    Abstract:

    Abstract Objective We present prenatal diagnosis and molecular cytogenetic characterization of Wolf–Hirschhorn syndrome (WHS) in a fetus with facial cleft and preaxial polydactyly. Materials and methods A 37-year-old woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age, and the result showed an aberrant chromosome 4 or 46,XX,add(4) (p15.3). The woman consulted our clinics at 22 weeks of gestation and requested for repeat amniocentesis. Prenatal ultrasound revealed intrauterine growth restriction, facial cleft, vermian hypoplasia of cerebellum, micrognathia and absent stomach. Conventional cytogenetic analysis was performed on cultured Amniocytes, parental bloods and cord blood. Array comparative genomic hybridization (aCGH) and quantitative fluorescent polymerase chain reaction (QF-PCR) were performed on the DNAs extracted from uncultured Amniocytes and parental bloods. Fluorescence in situ hybridization (FISH) analysis was performed on cultured metaphase Amniocytes. Results aCGH analysis on uncultured Amniocytes revealed arr 4p16.3p16.1 (74,447–8,732,731) × 1.0 [GRCh37 (hg19)] with an 8.66-Mb deletion of 4p16.3-p16.1 encompassing 70 [Online Mendelian Inheritance of in Man (OMIM)] genes including ZNF141, FGFRL1, TACC3, LETM1, NSD2 and NELFA. QF-PCR revealed a paternal origin of the distal 4p deletion. Conventional cytogenetic analysis revealed 46,XX,del(4) (p16.1)dn in the fetus. Metaphase FISH analysis confirmed a 4p16 deletion. The parental karyotypes were normal. The pregnancy was subsequently terminated, and a malformed fetus was delivered with typical WHS facial dysmorphism, bilateral cleft lip and palate, and preaxial polydactyly on the right hand. Conclusion aCGH, QF-PCR and FISH help to delineate the nature of a prenatally defected aberrant chromosome, and the acquired information is useful for genetic counseling.