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1.
Chih-Ping Chen Tung-Yao Chang Fang-Yu Hung Schu-Rern Chern Peih-Shan Wu Shin-Wen Chen Shih-Ting Lai Tzu-Yun Chuang Chen-Chi Lee Wayseen Wang 《Taiwanese journal of obstetrics & gynecology》2017,56(6):843-846
Objective
We present prenatal diagnosis of an interstitial 8q22.2-q23.3 deletion associated with bilateral cleft lip and palate and intrauterine growth restriction (IUGR) on fetal ultrasound.Case report
A 29-year-old, primigravid woman underwent elective amniocentesis at 17 weeks of gestation because of anxiety. Amniocentesis revealed a karyotype of 46, XX. However, level II ultrasound at 21 weeks of gestation revealed a fetus with IUGR and bilateral cleft lip and palate. Repeat amniocentesis was performed at 21 weeks of gestation, and array comparative genomic hybridization using uncultured amniocytes revealed a 13.5-Mb interstitial deletion of 8q22.2-q23.3 encompassing 37 Online Mendelian Inheritance of in Man (OMIM) genes including SPAG1, GRHL2, NCALD, RRM2B and ZFPM2. Polymorphic DNA marker analysis determined a paternal origin of the deletion. The pregnancy was subsequently terminated, and a malformed fetus was delivered with a depressed nose and bilateral cleft lip and palate.Conclusion
Prenatal diagnosis of facial cleft with IUGR should raise a suspicion of subtle chromosome deletions. 相似文献2.
Chih-Ping Chen Chih-Heng Hsieh Schu-Rern Chern Peih-Shan Wu Shin-Wen Chen Shih-Ting Lai Tzu-Yun Chuang Chien-Wen Yang Chen-Chi Lee Wayseen Wang 《Taiwanese journal of obstetrics & gynecology》2017,56(6):847-851
Objective
We present prenatal diagnosis and molecular cytogenetic characterization of an interstitial deletion of 18q12.1-q12.3.Case report
A 35-year-old woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,XX,del(18)(q12.1q12.3). The fetal ultrasound was unremarkable. The woman underwent repeat amniocentesis at 20 weeks of gestation. Array comparative genomic hybridization (aCGH) using uncultured amniocytes revealed a 10.76-Mb interstitial deletion 18q12.1-q12.3 or arr 18q12.1q12.3 (31,944,347–42,704,784) × 1.0 encompassing 19 Online Mendelian Inheritance of in Man (OMIM) genes including DTNA, CELF4 and SETBP1. Metaphase fluorescence in situ hybridization analysis on cultured amniocytes confirmed an 18q proximal interstitial deletion. The parental karyotypes were normal. Polymorphic DNA marker analysis determined a paternal origin of the deletion. The pregnancy was subsequently terminated at 24 weeks of gestation, and a 650-g fetus was delivered with characteristic facial dysmorphism.Conclusion
aCGH analysis and polymorphic DNA marker analysis at amniocentesis are useful for determination of the deleted genes and the parental origin of the de novo deletion, and the acquired information is helpful for genetic counseling. 相似文献3.
Chih-Ping Chen Schu-Rern Chern Yen-Ni Chen Shin-Wen Chen Peih-Shan Wu Chien-Wen Yang Chen-Chi Lee Meng-Shan Lee Chen-Wen Pan Wayseen Wang 《Taiwanese journal of obstetrics & gynecology》2017,56(2):217-223
Objective
We present prenatal diagnosis and molecular cytogenetic characterization of concomitant familial small supernumerary marker chromosome 4 [sSMC(4)] derived from 4q11.1–q12 and q13.2, and 5q13.2 microdeletion with no apparent phenotypic abnormality.Materials and methods
A 32-year-old woman underwent amniocentesis at 21 weeks of gestation because of absent nasal bone on fetal ultrasound. Amniocentesis revealed a karyotype of 47,XX,+mar[13]/46,XX[3]. Array comparative genomic hybridization analysis on the cultured amniocytes revealed a 2.752-Mb duplication at 4q11–q12, a 1.949-Mb duplication at 4q13.2, and a 1.65-Mb deletion at 5q13.2. The woman underwent repeat amniocentesis at 24 weeks of gestation for molecular cytogenetic characterization. The phenotypically normal parents and their elder son underwent genetic analysis.Results
At repeat amniocentesis, interphase fluorescence in situ hybridization analysis on uncultured amniocytes revealed 79.25% (84/106) mosaicism for the sSMC(4), and metaphase fluorescence in situ hybridization analysis on cultured amniocytes revealed that all 20 cells examined (100%) had the sSMC(4). Polymorphic DNA marker analysis on uncultured amniocytes excluded uniparental disomy 4. The father had a karyotype of 47,XY,+mar[2]/46,XY[38], and interphase fluorescence in situ hybridization revealed 2.91% (3/103) mosaicism for the sSMC(4) in his peripheral blood. The mother carried the 5q13.2 microdeletion. The elder son had a karyotype of 47,XY,+mar[27]/ 46,XY[13] with duplications of 4q11–q12 and 4q13.2. A 3105 g female baby was delivered at term with no apparent phenotypic abnormality.Conclusion
Prenatal diagnosis of concomitant sSMC and microdeletion should raise a suspicion of familial inheritance. 相似文献4.
Chih-Ping Chen Chen-Ju Lin Schu-Rern Chern Peih-Shan Wu Yen-Ni Chen Shin-Wen Chen Chen-Wen Pan Chien-Wen Yang Wayseen Wang 《Taiwanese journal of obstetrics & gynecology》2017,56(2):238-242
Objective
We present prenatal diagnosis of low-level mosaic trisomy 12.Case Report
A 40-year-old woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age, which revealed a karyotype of 47,XX,+12[5]/46,XX[24] consistent with 17.2% (5/29) mosaicism for trisomy 12. Repeat amniocentesis performed at 21 weeks of gestation revealed a karyotype of 47,XX,+12[4]/46,XX[6] consistent with 40% (4/10) mosaicism for trisomy 12. Interphase fluorescence in situ hybridization (FISH) on 112 uncultured amniocytes detected 23 cells with trisomy 12 consistent with 20.5% (23/112) mosaicism for trisomy 12. Polymorphic DNA marker analysis excluded uniparental disomy 12. Array comparative genomic hybridization (aCGH) on uncultured amniocytes revealed a result of arr 12p13.33q24.33 (230,451–133,773,499) × 2.2, 17p12 (14,191,925–15,442,037) × 1.0 consistent with 10–20% mosaic trisomy 12. The father carried the 17p12 microdeletion. The fetal ultrasound findings were unremarkable. A 3958-g female fetus was delivered at 37 weeks of gestation with no phenotypic abnormality. The cord blood had a karyotype of 46,XX. Postnatal interphase FISH on urinary cells revealed 7.14% (7/98) mosaicism for trisomy 12.Conclusion
Low-level mosaic trisomy 12 at amniocentesis can be associated with a favorable pregnancy outcome. Interphase FISH and aCGH on uncultured amniocytes are useful for confirmation of low-level mosaic trisomy 12 at amniocentesis. 相似文献5.
Chih-Ping Chen Tsang-Ming Ko Schu-Rern Chern Peih-Shan Wu Shin-Wen Chen Shih-Ting Lai Chien-Wen Yang Chen-Wen Pan Wayseen Wang 《Taiwanese journal of obstetrics & gynecology》2017,56(4):545-549
Objective
We present prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 16.Case report
A 28-year-old woman underwent amniocentesis at 17 weeks of gestation because of abnormal maternal serum screening for Down syndrome. Amniocentesis revealed a karyotype of 47,XY,+mar[5]/46,XY[9]. Parental karyotypes were normal. Prenatal ultrasound findings were unremarkable. Array comparative genomic hybridization (aCGH) analysis of cultured amniocytes revealed a de novo 16% gene dosage increase of 16q11.2-q22.1. Repeat amniocentesis at 21 weeks of gestation revealed a karyotype of 47,XY,+mar[10]/46,XY[31]. aCGH analysis of uncultured amniocytes revealed a result of arr 16q11.2q22.1 (46,492,626–68,867,969) × 2.20 with a log2 ratio of 0.15 encompassing RPGRIP1L, FTO, SLC6A2, BBS2 and CDH1. Interphase fluorescence in situ hybridization (FISH) analysis on uncultured amniocytes detected partial trisomy 16q in 36/137 (26.3%) of uncultured amniocytes. Polymorphic DNA marker analysis on amniocytes and parental bloods excluded uniparental disomy 16. Premature labor occurred at 25 weeks of gestation, and a 585-g male baby without craniofacial dysmorphism was delivered and survived. At age 1½ years, pediatric follow-ups revealed normal psychomotor development, normal body weight, short stature, congenital hypothyroidism, hearing impairment and hypospadias in the neonate, and the peripheral blood had a karyotype of 46,XY in 40 cultured lymphocytes.Conclusion
aCGH, interphase FISH and polymorphic DNA marker analyses of uncultured amniocytes are useful for confirmation of prenatally detected mosaic sSMCs at amniocentesis. 相似文献6.
Chih-Ping Chen Ming Chen Chia-Hsun Wu Chen-Ju Lin Schu-Rern Chern Peih-Shan Wu Yen-Ni Chen Shin-Wen Chen Shun-Ping Chang Li-Feng Chen Wayseen Wang 《Taiwanese journal of obstetrics & gynecology》2017,56(4):554-557
Objective
We present prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 21q11.2-q21.1, and we review the literature of an sSMC(21) with a duplication of 21q11.2-q21.1.Case report
A 40-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XX,+mar [18]/46,XX [4]. The parental karyotypes were normal. Prenatal ultrasound findings were unremarkable. aCGH analysis of cultured amniocytes revealed a 2.855-Mb duplication of 21q11.2-q21.1 encompassing the genes of LIPI, ABCC13 and NRIP1. Metaphase fluorescence in situ hybridization analysis on cultured amniocytes revealed a result of 47,XX,+mar .ish der(13/21) (D13/21Z1+) [10]. Spectral karyotyping analysis determined the origin of chromosome 21 in the sSMC. A female fetus was delivered with no phenotypic features of Down syndrome and no structural abnormalities. We discuss the genotype–phenotype correlation of LIPI, ABCC13 and NRIP1, and review the literature of an sSMC(21) associated with dup(21)(q11.2q21.1).Conclusion
aCGH is useful for identification of the nature and genetic component of a prenatally detected sSMC. 相似文献7.
Chih-Ping Chen Tsang-Ming Ko Yi-Yung Chen Schu-Rern Chern Peih-Shan Wu Shin-Wen Chen Shih-Ting Lai Tzu-Yun Chuang Chien-Wen Yang Chen-Wen Pan Wayseen Wang 《Taiwanese journal of obstetrics & gynecology》2017,56(6):836-839
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. 相似文献8.
Chih-Ping Chen Hoi-Kin Yip Liang-Kai Wang Schu-Rern Chern Shin-Wen Chen Shih-Ting Lai Peih-Shan Wu Wayseen Wang 《Taiwanese journal of obstetrics & gynecology》2017,56(3):385-389
Objective
We present prenatal diagnosis of dup(X)(q13.3q21.1) in a male fetus and molecular genetic analysis in three generations and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at Xq13.3-q21.1.Case report
A 35-year-old, primigravid woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. The woman and her mother were phenotypically normal, and there was no intellectual disability in the maternal family. Cytogenetic analysis of cultured amniocytes revealed a karyotype of 46,XY. Simultaneous array comparative genomic hybridization (aCGH) analysis on uncultured amniotic fluid incidentally detected a 1.484-Mb microduplication of Xq13.3-q21.1 encompassing ATRX. Subsequent aCGH analysis on fetal blood, maternal blood and grandmother's blood revealed the same 1.484-Mb dup(X)(q13.3q21.1). Prenatal ultrasound findings were unremarkable with no growth restriction and no short stature. After genetic counseling of syndromic intellectual disability in males with ATRX duplication, the woman elected to terminate the pregnancy. The fetus postnatally manifested hypoplastic male external genitalia, clinodactyly, hypertelorism, midface hypoplasia, epicanthic folds and micrognathia.Conclusion
Simultaneous aCGH analysis on uncultured amniotic fluid in addition to conventional cytogenetics at amniocentesis is practical and may help in detecting unknown familial inheritance of subtle X chromosome aberrations. 相似文献9.
Chih-Ping Chen Schu-Rern Chern Peih-Shan Wu Shin-Wen Chen Shih-Ting Lai Tzu-Yun Chuang Chien-Wen Yang Chen-Chi Lee Wayseen Wang 《Taiwanese journal of obstetrics & gynecology》2017,56(6):840-842
Objective
We present prenatal diagnosis of low-level mosaicism for trisomy 13 at amniocentesis associated with a favorable outcome.Case report
A 35-year-old woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XY,+13[5]/46,XY[20]. Oligonucleotide array comparative genomic hybridization (aCGH) analysis on uncultured amniocytes revealed arr [GRCh37] (13)×3 [0.10], (X,Y)×1 compatible with trisomy 13 mosaicism. Prenatal ultrasound was unremarkable. Repeat amniocentesis was performed at 21 weeks of gestation. Interphase fluorescence in situ hybridization (FISH) analysis on uncultured amniocytes revealed a mosaic trisomy 13 level of 10% (10/100 cells). aCGH analysis on uncultured amniocytes revealed a result of arr 13q12.11q34 (20,407,323–115,092,619)×2.1 with a log2 ratio of 0.06 compatible with a 10% level of mosaicism. Polymorphic DNA marker analysis excluded uniparental disomy 13. The parental karyotypes were normal. Conventional cytogenetic analysis using cultured amniocytes at repeat amniocentesis revealed a karyotype of 46,XY in 23/23 colonies. The pregnancy was carried to 37 weeks of gestation, and a 3600-g phenotypically normal male baby was delivered. When examined at 8 months of age, the infant was doing well and was normal in psychomotor and growth development. The peripheral blood had a karyotype of 46,XY, and interphase FISH analysis on uncultured urinary cells revealed a mosaic trisomy 13 level of 4.4% (2/45 cells).Conclusion
Low-level true mosaicism for trisomy 13 at amniocentesis without ultrasound abnormalities can be associated with a favorable fetal outcome. 相似文献10.
Chih-Ping Chen Ming Chen Pu-Tsui Wang Schu-Rern Chern Shin-Wen Chen Shih-Ting Lai Peih-Shan Wu Shun-Ping Chang Chen-Wen Pan Wayseen Wang 《Taiwanese journal of obstetrics & gynecology》2017,56(3):394-397
Objective
We present prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 11.Case report
A 37-year-old, gravida 3, para 2, woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XX,+mar[18]/46,XX[4]. The parental karyotypes were normal. Level II ultrasound findings were unremarkable. Array comparative genomic hybridization (aCGH) on the DNA extracted from cultured amniocytes revealed no genomic imbalance. The sSMC was characterized by spectral karyotyping (SKY) using 24-color SKY probes and fluorescence in situ hybridization (FISH) using a whole chromosome paint (wcp) probe and a CEP11 (D11Z1) probe. The result was 47,XX,+mar.ish(11)(SKY+, wcp11+, D11Z1+)[16]/46,XX[4], indicating that the sSMC was derived from chromosome 11. A healthy female baby was delivered at 37 weeks of gestation with no phenotypic abnormalities. The cord blood had a karyotype of 47,XX,+mar[32]/46,XX[8]. Polymorphic DNA marker analysis of the blood excluded uniparental disomy 11. The female infant was normal in growth and psychomotor development during follow-ups at two months of age.Conclusion
aCGH, SKY and FISH are useful in prenatal diagnosis of an sSMC derived from the centromeric region of a non-acrocentric chromosome. 相似文献11.
Chih-Ping Chen Chang-Sheng Yin Liang-Kai Wang Schu-Rern Chern Shin-Wen Chen Shih-Ting Lai Peih-Shan Wu Wen-Lin Chen Wayseen Wang 《Taiwanese journal of obstetrics & gynecology》2017,56(3):390-393
Objective
We present prenatal diagnosis and molecular genetic characterization of a de novo interstitial deletion of chromosome 20p (20p12-p13) and a literature review of prenatal diagnosis of Alagille syndrome (ALGS).Case report
A 33-year-old woman underwent amniocentesis at 17 weeks of gestation because of an abnormal result of combined first-trimester screening. Her husband was 35 years old, and there was no family history of congenital malformations. Amniocentesis revealed a karyotype of 46,XY,del(20)(p12p13), and array comparative genomic hybridization analysis on uncultured amniocytes revealed a 3.749-Mb deletion at 20p13-p12.3 and a 1.84-Mb deletion at 20p12.2 encompassing the gene of JAG1. The parental karyotypes were normal. Prenatal ultrasound findings were unremarkable. The fetus postnatally manifested characteristic facial features of ALGS. Postnatal molecular cytogenetic analysis of fetal tissues confirmed the prenatal diagnosis. Polymorphic DNA marker analysis revealed a paternal origin of the deletion.Conclusion
A de novo interstitial 20p deletion can be caused by a paternal effect. Pregnancy with a fetus affected with ALGS may be associated with an abnormal result of combined first-trimester screening and manifest no detectable ultrasound abnormalities. 相似文献12.
Grace Wing Shan Kong Yanlin Ma Jian Ou Yvonne Ka Yin Kwok Wei Wang Queenie Sum Yee Yeung Cherry Kit Man Wong Qi Li Wen Xu Weiying Lu Hong Li Tin Chiu Li Kwong Wai Choy 《Taiwanese journal of obstetrics & gynecology》2017,56(4):514-520
Objective
This study aims to validate the BACs-on-Beads (BoB) technology as a robust and high throughput method for pre-implantation genetic screening (PGS) for aneuploidy.Material and methods
The performances with respect to the sensitivity, specificity, success rate and detection rate of this technique from new BoBs technology and traditional array chromosomal genomic hybridization (aCGH) were compared. And the use of BoBs as a screening tool for euploid embryos in PGS was evaluated.Result
In the first part of validation study, there were total 75 embryos completed PGS by both BoBs and aCGH. The success rate of PGS was 97.4%, and the results showed 100% concordance between BoBs and aCGH for aneuploidy. In the second part, a total 219 embryos were involved. The success rate of PGS by BoBs was 100%. BoBs identified 28% (62/219) euploidy which were further confirmed to be euploidy by aCGH.Conclusion
This new strategic approach using BoBs as a first tier PGS screening tool and aCGH as a confirmatory tool can increase the throughput of PGS with a reduced cost and time to meet the demand in high volume units. 相似文献13.
Aline Receveur Sophie Brisset Jelena Martinovic Anne Bazin Laurence Lhomann Claire Colmant Dominique Pineau Valérie Gautier Lucie Tosca Gérard Tachdjian 《Taiwanese journal of obstetrics & gynecology》2017,56(5):677-680
Objective
Isochromosome of the long arm of chromosome 20 (i(20q)) is a rare structural abnormality in prenatal diagnosis. Thirty prenatal cases of mosaic i(20q) have been reported, among which only four are associated with fetal malformations. We describe a new prenatal case of i(20q) with fetal malformations.Materials and methods
We also observed a discrepancy between uncultured and cultured amniotic fluid cells by using conventional cytogenetic, fluorescence in situ hybridization and array-SNP analysis.Results
The short arm deletion of chromosome 20 arising from the isochromosome encompassed two candidate genes PAX1 and JAG1 involved in cranio-facial and vertebral development.Conclusion
The data would allow establishing a phenotype–genotype correlation. Thus, we proposed to define a recognizable syndrome combining cranio-facial dysmorphism, vertebral bodies' anomalies, feet and cerebral malformations. 相似文献14.
Kristl Tomlin Tammalynn Bambulas Maureen Sutton Vanessa Pazdernik Dean V. Coonrod 《Journal of pediatric and adolescent gynecology》2017,30(3):383-388
Study Objective
To determine if teenage patients receiving prenatal care in an adolescent-focused clinic, emphasizing long-acting reversible contraception (LARC) using motivational interviewing techniques, had higher rates of uptake of postpartum LARC than a control group.Design and Setting
Retrospective cohort study comparing young women who received prenatal care in an adolescent-focused setting with those enrolled in standard prenatal care.Participants
Adolescents between the ages of 13 and 17 years receiving prenatal care within the Maricopa Integrated Health safety-net system between 2007 and 2014.Interventions
Motivational interviewing within the context of adolescent-focused prenatal care.Main Outcome Measures
Rates of uptake of LARC within 13 postpartum weeks.Results
The adjusted rate of LARC for adolescent-focused prenatal care participants by 13 weeks postpartum was 38% (95% confidence interval [CI], 29%-47%) compared with 18% (95% CI, 11%-28%) for standard care participants, with an adjusted odds ratio of LARC use of 2.8 (95% CI, 1.5-5.2). Among patients who received adolescent-focused prenatal care, most (27% vs 12.7%) were using an intrauterine device as opposed to an implantable contraceptive device.Conclusion
Participation in an adolescent-focused antepartum setting using motivational interviewing to emphasize postpartum LARC resulted in nearly 3 times higher rates of uptake compared with standard prenatal care. 相似文献15.
Chih-Ping Chen Ming Chen Liang-Kai Wang Schu-Rern Chern Peih-Shan Wu Shin-Wen Chen Shih-Ting Lai Shun-Ping Chang Chien-Wen Yang Chen-Wen Pan Wayseen Wang 《Taiwanese journal of obstetrics & gynecology》2017,56(4):527-533
Objective
We present the association of paternal uniparental disomy (UPD) 9 with mosaicism for a small supernumerary marker chromosome 9 [sSMC(9)] and a supernumerary ring chromosome 9 [r(9)].Materials and methods
A 38-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XY,+mar [25]/48,XY,+mar,+r(9) [4]/47,XY,+r(9) [1]/46,XY [6]. The parental karyotypes were normal. Array comparative genomic hybridization (aCGH) of cultured amniocytes revealed a result of de novo 9p13.1q21.11 (38,792,472–71,026,063) × 2.64. The marker chromosome was determined to be an sSMC(9) by spectral karyotyping and aCGH. A phenotypically normal baby was delivered at 38 weeks of gestation. During pediatric follow-ups at age two years, the neonate manifested normal psychomotor and growth development. Cytogenetic analysis, metaphase fluorescence in situ hybridization (FISH), single nucleotide polymorphism (SNP) aCGH and polymorphic DNA marker analysis were performed on the peripheral blood of the neonate.Results
The neonate's blood had the following results. Metaphase FISH confirmed coexistence of the sSMC(9) and the supernumerary r(9). The karyotype was 47,XY,+sSMC(9) [14]/48,XY, +sSMC(9),+r(9) [10]/47,XY,+r(9) [6]/46,XY [10]. SNP aCGH revealed arr 9p22.3q21.11 (14,234,165–71,035,608) × 2–3, arr 9p24.3p22.3 (216,123–14,629,321)hmz, arr 9p21.3p13.2 (24,769,722–36,732,597)hmz and arr 9q21.11q34.3 (71,013,799–141,011,581)hmz. Polymorphic DNA marker analysis showed paternal isodisomy 9.Conclusion
Individuals with mosaicism for sSMC(9) and supernumerary r(9) may be associated with paternal UPD 9. 相似文献16.
Chih-Ping Chen Chris Tsai Ming-Huei Lin Schu-Rern Chern Shin-Wen Chen Shih-Ting Lai Wen-Lin Chen Chen-Wen Pan Wayseen Wang 《Taiwanese journal of obstetrics & gynecology》2017,56(5):691-693
Objective
We present the application of non-invasive prenatal testing (NIPT) in late gestation in a pregnancy associated with intrauterine growth restriction (IUGR) and trisomy 22 confined placental mosaicism (CPM).Case report
A 35-year-old pregnant woman underwent chorionic villus sampling (CVS) at 12 weeks of gestation. The pregnancy was conceived by in vitro fertilization and intracytoplasmic sperm injection. CVS revealed a karyotype of 47,XY,+22 in all of 15 cultured chorionic villi cells. Array comparative genomic hybridization analysis on uncultured chorionic villi revealed a result consistent with trisomy 22. The woman underwent amniocentesis at 17 weeks of gestation. Amniocentesis revealed a karyotype of 46,XY in all 20 colonies of cultured amniocytes. Additional polymorphic DNA marker analysis excluded uniparental disomy 22. The parental karyotypes were normal. Prenatal ultrasound at 23 weeks of gestation revealed fetal retrognathia, IUGR and a calcified placenta. NIPT at 27 weeks of gestation using maternal plasma cell-free DNA analysis showed a chromosome Z-score of 5.74 for chromosome 22 (the Z-score for each pair of chromosomes is defined as “increased” if >3), indicating an abnormal placenta with trisomy 22 CPM leading to IUGR in the fetus. At 36 weeks of gestation, a 1754-g male fetus was delivered with cleft palate and imperforate anus but no other phenotypic abnormalities. The cord blood had a karyotype of 46,XY (40/40 cells), the umbilical cord had a karyotype of 47,XY,+22[9]/46,XY[31], and the placental tissues had a karyotype of 47,XY,+22[15]/46,XY[25].Conclusion
NIPT in late gestation is useful in detection of placental abnormality associated with CPM and IUGR but a normal karyotype at amniocentesis. 相似文献17.
Chih-Ping Chen Chen-Ju Lin Yen-Ni Chen Schu-Rern Chern Shin-Wen Chen Shih-Ting Lai Peih-Shan Wu Li-Feng Chen Wayseen Wang 《Taiwanese journal of obstetrics & gynecology》2017,56(3):398-401
Objective
We present prenatal diagnosis and molecular genetic characterization of a de novo interstitial deletion of 2q (2q31.1-q32.1) and discuss the genotype–phenotype correlation.Case report
A 34-year-old, primigravid woman was referred to the hospital at 20 weeks of gestation for genetic counseling because of a prenatally detected de novo interstitial deletion of chromosome 2q (2q31.1-q32.1). She underwent amniocentesis at 17 weeks of gestation because of advanced maternal age and an increased first-trimester nuchal translucency (NT) thickness of 3.6 mm. Amniocentesis revealed a karyotype of 46,XY. However, array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniotic fluid and amniocytes revealed a 13.29-Mb deletion at chromosome 2q31.3-q32.1. The parents did not have such a deletion. Prenatal ultrasound findings were unremarkable. After counseling of the genotype–phenotype correlation of such a chromosome aberration with congenital malformations, the parents elected to terminate the pregnancy. The fetus postnataly manifested hypertelorism and syndactyly of the second and third toes of bilateral feet. Cytogenetic analysis of the umbilical cord revealed a karyotype of 46,XY,del(2)(q31q32). aCGH analysis on the DNA extracted from the cord blood confirmed a 13.35-Mb deletion of 2q31.1-q32.1 encompassing HOXD13, ZNF385B, ITGA4, CERKL, PDE1A, FRZB and ZNF804A. Polymorphic DNA marker analysis revealed a paternal origin of the deletion.Conclusion
Fetuses with an interstitial deletion of 2q31.1-q32.1 may be associated with increased first-trimester NT. Haploinsufficiency of HOXD13 is associated with syndactyly. Genomic microarray is useful in detecting subtle chromosomal abnormalities in fetuses with increased NT and normal karyotype. 相似文献18.
M. Tabet S. Jakhar C.A. Williams U. Rawat Y.D. Hailegiorgis L.H. Flick J.J. Chang 《Journal of pediatric and adolescent gynecology》2017,30(1):63-70
Study Objective
To investigate the racial/ethnic differences in the correlates of spontaneous and medically-indicated late preterm birth (LPTB), defined as deliveries between 34 0/7 and 36 6/7 weeks gestation, among US adolescents.Design
Population-based, retrospective cohort study.Setting
Births in the United States to adolescents in 2012.Participants
Adolescents (younger than 20 years; n = 171,573) who delivered nonanomalous singleton first births between 34 and 44 weeks of gestation.Interventions and Main Outcome Measures
Bivariate and multivariable logistic regression were used to evaluate the associations between maternal risk factors and spontaneous and medically-indicated LPTB, stratified according to maternal race/ethnicity.Results
Risk factors for spontaneous LPTB included single marital status among Asian adolescents; no insurance coverage among whites, Asian, and Hispanic adolescents; inadequate prenatal care among all racial/ethnic groups except American Indian, and adequate plus prenatal care among all races/ethnicities; prenatal smoking among whites and black adolescents; insufficient gestational weight gain among all racial/ethnic groups except American Indian; and prepregnancy underweight among white, black, and Hispanic adolescents. Risk factors for medically-indicated LPTB included inadequate prenatal care among white, black, and Hispanic adolescents, and adequate plus prenatal care among all racial/ethnic groups except Asian; insufficient gestational weight gain among white, black, and Hispanic adolescents; and prepregnancy overweight and obesity among white, black, and Hispanic adolescents.Conclusion
Our results show racial/ethnic differences in the correlates of spontaneous and medically-indicated LPTB among US adolescents and support the need for risk-specific interventions among different racial/ethnic groups. 相似文献19.
Chih-Ping Chen Ming Chen Shun-Ping Chang Fang-Yu Hung Meng-Ju Lee Schu-Rern Chern Peih-Shan Wu Yen-Ni Chen Shin-Wen Chen Chen-Chi Lee Dai-Dyi Town Wen-Lin Chen Wayseen Wang 《Taiwanese journal of obstetrics & gynecology》2017,56(2):234-237