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Volumn 36, Issue 2, 2016, Pages 261-276

Chromosomal Microarrays for the Prenatal Detection of Microdeletions and Microduplications

Author keywords

Cell free DNA; Copy number variant; Genetic counseling; Microarray; Microdeletion; Microduplication

Indexed keywords

CAT CRY SYNDROME; CHONDRODYSPLASIA; CHROMOSOMAL MICROARRAY ANALYSIS; CHROMOSOME 15Q11 Q13 MICRODUPLICATION; CHROMOSOME 17P13 MICRODUPLICATION; CHROMOSOME 1P36 MICRODELETION; CHROMOSOME 3Q29 MICRODELETION; CHROMOSOME 5Q35 MICRODUPLICATION; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DELETION 22Q11; CHROMOSOME DUPLICATION; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; DIGEORGE SYNDROME; GENETIC COUNSELING; HAPPY PUPPET SYNDROME; HUMAN; JACOBSEN SYNDROME; KARYOTYPE; KLEEFSTRA SYNDROME; KOOLEN DE VRIES SYNDROME; MICROARRAY ANALYSIS; MILLER DIEKER SYNDROME; POTOCKI LUPSKI SYNDROME; PRADER WILLI SYNDROME; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; SMITH MAGENIS SYNDROME; SOTOS SYNDROME; WILLIAMS BEUREN SYNDROME; WOLF HIRSCHHORN SYNDROME; DNA MICROARRAY; FEMALE; KARYOTYPING; PREGNANCY; PROCEDURES;

EID: 84971467521     PISSN: 02722712     EISSN: 15579832     Source Type: Journal    
DOI: 10.1016/j.cll.2016.01.017     Document Type: Review
Times cited : (29)

References (59)
  • 1
    • 38449105506 scopus 로고    scopus 로고
    • ACOG practice bulletin no. 88, December 2007. Invasive prenatal testing for aneuploidy
    • American College of Obstetricians and Gynecologists ACOG practice bulletin no. 88, December 2007. Invasive prenatal testing for aneuploidy. Obstet Gynecol 2007, 110(6):1459-1467.
    • (2007) Obstet Gynecol , vol.110 , Issue.6 , pp. 1459-1467
  • 2
    • 0035016839 scopus 로고    scopus 로고
    • Prenatal diagnosis using interphase fluorescence in situ hybridization (FISH): 2-year multi-center retrospective study and review of the literature
    • Tepperberg J., Pettenati M.J., Rao P.N., et al. Prenatal diagnosis using interphase fluorescence in situ hybridization (FISH): 2-year multi-center retrospective study and review of the literature. Prenat Diagn 2001, 21(4):293-301.
    • (2001) Prenat Diagn , vol.21 , Issue.4 , pp. 293-301
    • Tepperberg, J.1    Pettenati, M.J.2    Rao, P.N.3
  • 3
    • 0032951503 scopus 로고    scopus 로고
    • International, collaborative assessment of 146,000 prenatal karyotypes: expected limitations if only chromosome-specific probes and fluorescent in-situ hybridization are used
    • Evans M.I., Henry G.P., Miller W.A., et al. International, collaborative assessment of 146,000 prenatal karyotypes: expected limitations if only chromosome-specific probes and fluorescent in-situ hybridization are used. Hum Reprod 1999, 14(5):1213-1216.
    • (1999) Hum Reprod , vol.14 , Issue.5 , pp. 1213-1216
    • Evans, M.I.1    Henry, G.P.2    Miller, W.A.3
  • 4
    • 0027365371 scopus 로고
    • Rapid prenatal diagnosis of chromosomal aneuploidies by fluorescence in situ hybridization: clinical experience with 4,500 specimens
    • Ward B.E., Gersen S.L., Carelli M.P., et al. Rapid prenatal diagnosis of chromosomal aneuploidies by fluorescence in situ hybridization: clinical experience with 4,500 specimens. Am J Hum Genet 1993, 52(5):854-865.
    • (1993) Am J Hum Genet , vol.52 , Issue.5 , pp. 854-865
    • Ward, B.E.1    Gersen, S.L.2    Carelli, M.P.3
  • 5
    • 0141613852 scopus 로고    scopus 로고
    • Rapid and simple prenatal diagnosis of common chromosome disorders: advantages and disadvantages of the molecular methods FISH and QF-PCR
    • Hulten M.A.D.S., Pertl B. Rapid and simple prenatal diagnosis of common chromosome disorders: advantages and disadvantages of the molecular methods FISH and QF-PCR. Reproduction 2003, 126(3):279-297.
    • (2003) Reproduction , vol.126 , Issue.3 , pp. 279-297
    • Hulten, M.A.D.S.1    Pertl, B.2
  • 6
    • 8344258135 scopus 로고    scopus 로고
    • Prenatal diagnosis of common aneuploidies using multiplex quantitative fluorescent polymerase chain reaction
    • El Mouatassima S., Becker M., Kuziob S., et al. Prenatal diagnosis of common aneuploidies using multiplex quantitative fluorescent polymerase chain reaction. Fetal Diagn Ther 2004, 19:496-503.
    • (2004) Fetal Diagn Ther , vol.19 , pp. 496-503
    • El Mouatassima, S.1    Becker, M.2    Kuziob, S.3
  • 7
    • 7744225371 scopus 로고    scopus 로고
    • Strategies for the rapid prenatal diagnosis of chromosome aneuploidy
    • Mann K., Donaghue C., Fox S.P., et al. Strategies for the rapid prenatal diagnosis of chromosome aneuploidy. Eur J Hum Genet 2004, 12(11):907-915.
    • (2004) Eur J Hum Genet , vol.12 , Issue.11 , pp. 907-915
    • Mann, K.1    Donaghue, C.2    Fox, S.P.3
  • 8
    • 0027997680 scopus 로고
    • Rapid prenatal diagnosis of aneuploidy from uncultured amniotic fluid cells using five-colour fluorescence in situ hybridization
    • Divane A., Carter N.P., Spathas D.H., et al. Rapid prenatal diagnosis of aneuploidy from uncultured amniotic fluid cells using five-colour fluorescence in situ hybridization. Prenat Diagn 1994, 14(11):1061-1069.
    • (1994) Prenat Diagn , vol.14 , Issue.11 , pp. 1061-1069
    • Divane, A.1    Carter, N.P.2    Spathas, D.H.3
  • 9
    • 34848916717 scopus 로고    scopus 로고
    • Evaluation of a commercially available focused aCGH platform for the detection of constitutional chromosome anomalies
    • Shearer B.M., Thorland E.C., Gonzales P.R., et al. Evaluation of a commercially available focused aCGH platform for the detection of constitutional chromosome anomalies. Am J Med Genet 2007, 143A:2357-2370.
    • (2007) Am J Med Genet , vol.143A , pp. 2357-2370
    • Shearer, B.M.1    Thorland, E.C.2    Gonzales, P.R.3
  • 10
    • 39649124023 scopus 로고    scopus 로고
    • Array-based DNA diagnostics: let the revolution begin
    • Beaudet A.L., Belmont J.W. Array-based DNA diagnostics: let the revolution begin. Annu Rev Med 2008, 59:113-129.
    • (2008) Annu Rev Med , vol.59 , pp. 113-129
    • Beaudet, A.L.1    Belmont, J.W.2
  • 11
    • 10744230160 scopus 로고    scopus 로고
    • High-resolution analysis of DNA copy number using oligonucleotide microarrays
    • Bignell G.R., Huang J., Greshock J., et al. High-resolution analysis of DNA copy number using oligonucleotide microarrays. Genome Res 2004, 14(2):287-295.
    • (2004) Genome Res , vol.14 , Issue.2 , pp. 287-295
    • Bignell, G.R.1    Huang, J.2    Greshock, J.3
  • 12
    • 78649635514 scopus 로고    scopus 로고
    • Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities
    • Manning M., Hudgins L., Professional Practice and Guidelines Committee Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet Med 2010, 12(11):742-745.
    • (2010) Genet Med , vol.12 , Issue.11 , pp. 742-745
    • Manning, M.1    Hudgins, L.2
  • 13
    • 55449129552 scopus 로고    scopus 로고
    • Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens
    • Shaffer L.G., Coppinger J., Alliman S., et al. Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens. Prenat Diagn 2008, 28(9):789-795.
    • (2008) Prenat Diagn , vol.28 , Issue.9 , pp. 789-795
    • Shaffer, L.G.1    Coppinger, J.2    Alliman, S.3
  • 14
    • 73449106142 scopus 로고    scopus 로고
    • Use of array comparative genomic hybridization for prenatal diagnosis of fetuses with sonographic anomalies and normal metaphase karyotype
    • Kleeman L., Bianchi D.W., Shaffer L.G., et al. Use of array comparative genomic hybridization for prenatal diagnosis of fetuses with sonographic anomalies and normal metaphase karyotype. Prenat Diagn 2009, 29(13):1213-1217.
    • (2009) Prenat Diagn , vol.29 , Issue.13 , pp. 1213-1217
    • Kleeman, L.1    Bianchi, D.W.2    Shaffer, L.G.3
  • 15
    • 84893182999 scopus 로고    scopus 로고
    • Committee opinion no. 581: the use of chromosomal microarray analysis in prenatal diagnosis
    • American College of Obstetricians and Gynecologists Committee on Genetics Committee opinion no. 581: the use of chromosomal microarray analysis in prenatal diagnosis. Obstet Gynecol 2013, 122(6):1374-1377.
    • (2013) Obstet Gynecol , vol.122 , Issue.6 , pp. 1374-1377
  • 16
    • 34548677263 scopus 로고    scopus 로고
    • Array-based comparative genomic hybridization: clinical contexts for targeted and whole-genome designs
    • Aradhya S., Cherry A.M. Array-based comparative genomic hybridization: clinical contexts for targeted and whole-genome designs. Genet Med 2007, 9(9):553-559.
    • (2007) Genet Med , vol.9 , Issue.9 , pp. 553-559
    • Aradhya, S.1    Cherry, A.M.2
  • 17
    • 0035179871 scopus 로고    scopus 로고
    • Assembly of microarrays for genome-wide measurement of DNA copy number
    • Snijders A.M., Nowak N., Segraves R., et al. Assembly of microarrays for genome-wide measurement of DNA copy number. Nat Genet 2001, 29(3):263-264.
    • (2001) Nat Genet , vol.29 , Issue.3 , pp. 263-264
    • Snijders, A.M.1    Nowak, N.2    Segraves, R.3
  • 18
    • 2342453338 scopus 로고    scopus 로고
    • An integrated view of copy number and allelic alterations in the cancer genome using single nucleotide polymorphism arrays
    • Zhao X., Li C., Paez J.G., et al. An integrated view of copy number and allelic alterations in the cancer genome using single nucleotide polymorphism arrays. Cancer Res 2004, 64(9):3060-3071.
    • (2004) Cancer Res , vol.64 , Issue.9 , pp. 3060-3071
    • Zhao, X.1    Li, C.2    Paez, J.G.3
  • 19
    • 72149094033 scopus 로고    scopus 로고
    • Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray
    • Coppinger J., Alliman S., Lamb A.N., et al. Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray. Prenat Diagn 2009, 29:1156-1166.
    • (2009) Prenat Diagn , vol.29 , pp. 1156-1166
    • Coppinger, J.1    Alliman, S.2    Lamb, A.N.3
  • 20
    • 79952490501 scopus 로고    scopus 로고
    • Detection of mosaicism for genome imbalance in a cohort of 3,042 clinical cases using an oligonucleotide array CGH platform
    • Hoang S., Ahn J., Mann K., et al. Detection of mosaicism for genome imbalance in a cohort of 3,042 clinical cases using an oligonucleotide array CGH platform. Eur J Med Genet 2011, 54(2):121-129.
    • (2011) Eur J Med Genet , vol.54 , Issue.2 , pp. 121-129
    • Hoang, S.1    Ahn, J.2    Mann, K.3
  • 21
    • 33845274890 scopus 로고    scopus 로고
    • Detection of low-level mosaicism by array CGH in routine diagnostic specimens
    • Ballif B.C., Rorem E.A., Sundin K., et al. Detection of low-level mosaicism by array CGH in routine diagnostic specimens. Am J Med Genet A 2006, 140(24):2757-2767.
    • (2006) Am J Med Genet A , vol.140 , Issue.24 , pp. 2757-2767
    • Ballif, B.C.1    Rorem, E.A.2    Sundin, K.3
  • 22
    • 34547697696 scopus 로고    scopus 로고
    • Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics
    • Cheung S.W., Shaw C.A., Scott D.A., et al. Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet A 2007, 143A(15):1679-1686.
    • (2007) Am J Med Genet A , vol.143A , Issue.15 , pp. 1679-1686
    • Cheung, S.W.1    Shaw, C.A.2    Scott, D.A.3
  • 23
    • 77953956556 scopus 로고    scopus 로고
    • Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH
    • Neill N.J., Torchia B.S., Bejjani B.A., et al. Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH. Mol Cytogenet 2010, 3:11.
    • (2010) Mol Cytogenet , vol.3 , pp. 11
    • Neill, N.J.1    Torchia, B.S.2    Bejjani, B.A.3
  • 24
    • 77149174814 scopus 로고    scopus 로고
    • Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization
    • Scott S.A., Cohen N., Brandt T., et al. Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization. Genet Med 2010, 12(2):85-92.
    • (2010) Genet Med , vol.12 , Issue.2 , pp. 85-92
    • Scott, S.A.1    Cohen, N.2    Brandt, T.3
  • 25
    • 0017347991 scopus 로고
    • Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use
    • Hook E.B. Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use. Am J Hum Genet 1977, 29(1):94-97.
    • (1977) Am J Hum Genet , vol.29 , Issue.1 , pp. 94-97
    • Hook, E.B.1
  • 26
    • 84898787613 scopus 로고    scopus 로고
    • Chromosomal microarray analysis allows prenatal detection of low level mosaic autosomal aneuploidy
    • Hall G.K., Mackie F.L., Hamilton S., et al. Chromosomal microarray analysis allows prenatal detection of low level mosaic autosomal aneuploidy. Prenat Diagn 2014, 34(5):505-507.
    • (2014) Prenat Diagn , vol.34 , Issue.5 , pp. 505-507
    • Hall, G.K.1    Mackie, F.L.2    Hamilton, S.3
  • 27
    • 84861478142 scopus 로고    scopus 로고
    • Referral patterns for microarray testing in prenatal diagnosis
    • Shaffer L.G., Dabell M.P., Rosenfeld J.A., et al. Referral patterns for microarray testing in prenatal diagnosis. Prenat Diagn 2012, 32(6):611.
    • (2012) Prenat Diagn , vol.32 , Issue.6 , pp. 611
    • Shaffer, L.G.1    Dabell, M.P.2    Rosenfeld, J.A.3
  • 28
    • 84863859929 scopus 로고    scopus 로고
    • An overview of a 30-year experience with amniocentesis in a single tertiary medical center in Taiwan
    • Chang Y.W., Chang C.M., Sung P.L., et al. An overview of a 30-year experience with amniocentesis in a single tertiary medical center in Taiwan. Taiwan J Obstet Gynecol 2012, 51(2):206-211.
    • (2012) Taiwan J Obstet Gynecol , vol.51 , Issue.2 , pp. 206-211
    • Chang, Y.W.1    Chang, C.M.2    Sung, P.L.3
  • 29
    • 84879099857 scopus 로고    scopus 로고
    • Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis
    • Hillman S.C., McMullan D.J., Hall G., et al. Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis. Ultrasound Obstet Gynecol 2013, 41(6):610-620.
    • (2013) Ultrasound Obstet Gynecol , vol.41 , Issue.6 , pp. 610-620
    • Hillman, S.C.1    McMullan, D.J.2    Hall, G.3
  • 30
    • 84870549609 scopus 로고    scopus 로고
    • Chromosomal microarray versus karyotyping for prenatal diagnosis
    • Wapner R.J., Martin C.L., Levy B., et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med 2012, 367(23):2175-2184.
    • (2012) N Engl J Med , vol.367 , Issue.23 , pp. 2175-2184
    • Wapner, R.J.1    Martin, C.L.2    Levy, B.3
  • 31
    • 84866999347 scopus 로고    scopus 로고
    • Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies
    • Shaffer L.G., Dabell M.P., Fisher A.J., et al. Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies. Prenat Diagn 2012, 32(10):976-985.
    • (2012) Prenat Diagn , vol.32 , Issue.10 , pp. 976-985
    • Shaffer, L.G.1    Dabell, M.P.2    Fisher, A.J.3
  • 32
    • 84889598725 scopus 로고    scopus 로고
    • The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature
    • Callaway J.L., Shaffer L.G., Chitty L.S., et al. The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature. Prenat Diagn 2013, 33(12):1119-1123.
    • (2013) Prenat Diagn , vol.33 , Issue.12 , pp. 1119-1123
    • Callaway, J.L.1    Shaffer, L.G.2    Chitty, L.S.3
  • 33
    • 77956117452 scopus 로고    scopus 로고
    • Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis
    • Faas B.H., van der Burgt I., Kooper A.J., et al. Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis. J Med Genet 2010, 47:586-594.
    • (2010) J Med Genet , vol.47 , pp. 586-594
    • Faas, B.H.1    van der Burgt, I.2    Kooper, A.J.3
  • 34
    • 84866895022 scopus 로고    scopus 로고
    • Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound
    • Shaffer L.G., Rosenfeld J.A., Dabell M.P., et al. Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound. Prenat Diagn 2012, 32(10):986-995.
    • (2012) Prenat Diagn , vol.32 , Issue.10 , pp. 986-995
    • Shaffer, L.G.1    Rosenfeld, J.A.2    Dabell, M.P.3
  • 35
    • 84903129965 scopus 로고    scopus 로고
    • Association of copy number variants with specific ultrasonographically detected fetal anomalies
    • Donnelly J.C., Platt L.D., Rebarber A., et al. Association of copy number variants with specific ultrasonographically detected fetal anomalies. Obstet Gynecol 2014, 124(1):83-90.
    • (2014) Obstet Gynecol , vol.124 , Issue.1 , pp. 83-90
    • Donnelly, J.C.1    Platt, L.D.2    Rebarber, A.3
  • 36
    • 59449102851 scopus 로고    scopus 로고
    • Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases
    • Van den Veyver I.B., Patel A., Shaw C.A., et al. Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases. Prenat Diagn 2009, 29(1):29-39.
    • (2009) Prenat Diagn , vol.29 , Issue.1 , pp. 29-39
    • Van den Veyver, I.B.1    Patel, A.2    Shaw, C.A.3
  • 37
    • 4444291843 scopus 로고    scopus 로고
    • Detection of large-scale variation in the human genome
    • Iafrate A.J., Feuk L., Rivera M.N., et al. Detection of large-scale variation in the human genome. Nat Genet 2004, 36(9):949-951.
    • (2004) Nat Genet , vol.36 , Issue.9 , pp. 949-951
    • Iafrate, A.J.1    Feuk, L.2    Rivera, M.N.3
  • 38
    • 3242808027 scopus 로고    scopus 로고
    • Large-scale copy number polymorphism in the human genome
    • Sebat J., Lakshmi B., Troge J., et al. Large-scale copy number polymorphism in the human genome. Science 2004, 305(5683):525-528.
    • (2004) Science , vol.305 , Issue.5683 , pp. 525-528
    • Sebat, J.1    Lakshmi, B.2    Troge, J.3
  • 39
    • 34347361618 scopus 로고    scopus 로고
    • Copy number variations and clinical cytogenetic diagnosis of constitutional disorders
    • Lee C., Iafrate A.J., Brothman A.R. Copy number variations and clinical cytogenetic diagnosis of constitutional disorders. Nat Genet 2007, 39(7 Suppl):S48-S54.
    • (2007) Nat Genet , vol.39 , Issue.7 , pp. S48-S54
    • Lee, C.1    Iafrate, A.J.2    Brothman, A.R.3
  • 40
    • 79952213667 scopus 로고    scopus 로고
    • Rapid and novel prenatal molecular assay for detecting aneuploidies and microdeletion syndromes
    • Gross S.J., Bajaj K., Garry D., et al. Rapid and novel prenatal molecular assay for detecting aneuploidies and microdeletion syndromes. Prenat Diagn 2011, 31(3):259-266.
    • (2011) Prenat Diagn , vol.31 , Issue.3 , pp. 259-266
    • Gross, S.J.1    Bajaj, K.2    Garry, D.3
  • 41
    • 84859147595 scopus 로고    scopus 로고
    • Prenatal BACs-on-Beads™: the prospective experience of five prenatal diagnosis laboratories
    • Vialard F., Simoni G., Gomes D.M., et al. Prenatal BACs-on-Beads™: the prospective experience of five prenatal diagnosis laboratories. Prenat Diagn 2012, 32(4):329-335.
    • (2012) Prenat Diagn , vol.32 , Issue.4 , pp. 329-335
    • Vialard, F.1    Simoni, G.2    Gomes, D.M.3
  • 42
    • 79960556461 scopus 로고    scopus 로고
    • The development of a rapid assay for prenatal testing of common aneuploidies and microdeletion syndromes
    • Shaffer L.G., Coppinger J., Morton S.A., et al. The development of a rapid assay for prenatal testing of common aneuploidies and microdeletion syndromes. Prenat Diagn 2011, 31(8):778-787.
    • (2011) Prenat Diagn , vol.31 , Issue.8 , pp. 778-787
    • Shaffer, L.G.1    Coppinger, J.2    Morton, S.A.3
  • 43
    • 84908616776 scopus 로고    scopus 로고
    • Experience using a rapid assay for aneuploidy and microdeletion/microduplication detection in over 2,900 prenatal specimens
    • Rosenfeld J.A., Morton S.A., Hummel C., et al. Experience using a rapid assay for aneuploidy and microdeletion/microduplication detection in over 2,900 prenatal specimens. Fetal Diagn Ther 2014, 36(3):231-241.
    • (2014) Fetal Diagn Ther , vol.36 , Issue.3 , pp. 231-241
    • Rosenfeld, J.A.1    Morton, S.A.2    Hummel, C.3
  • 44
    • 84938570204 scopus 로고    scopus 로고
    • Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies
    • Grati F.R., Molina Gomes D., Ferreira J.C., et al. Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies. Prenat Diagn 2015, 35(8):801-809.
    • (2015) Prenat Diagn , vol.35 , Issue.8 , pp. 801-809
    • Grati, F.R.1    Molina Gomes, D.2    Ferreira, J.C.3
  • 45
    • 84901480908 scopus 로고    scopus 로고
    • Clinical features and follow-up in patients with 22q11.2 deletion syndrome
    • Cancrini C., Puliafito P., Digilio M.C., et al. Clinical features and follow-up in patients with 22q11.2 deletion syndrome. J Pediatr 2014, 164(6):1475-1480.e2.
    • (2014) J Pediatr , vol.164 , Issue.6 , pp. 1475-1480.e2
    • Cancrini, C.1    Puliafito, P.2    Digilio, M.C.3
  • 46
  • 47
    • 77954313604 scopus 로고    scopus 로고
    • Physicians' reactions to uncertainty in the context of shared decision making
    • Politi M.C., Legare F. Physicians' reactions to uncertainty in the context of shared decision making. Patient Educ Couns 2010, 80:155-157.
    • (2010) Patient Educ Couns , vol.80 , pp. 155-157
    • Politi, M.C.1    Legare, F.2
  • 48
    • 68749087405 scopus 로고    scopus 로고
    • Distress and burnout among genetic service providers
    • Bernhardt B.A., Rushton C.H., Carrese J., et al. Distress and burnout among genetic service providers. Genet Med 2009, 11:527-535.
    • (2009) Genet Med , vol.11 , pp. 527-535
    • Bernhardt, B.A.1    Rushton, C.H.2    Carrese, J.3
  • 49
    • 84911986477 scopus 로고    scopus 로고
    • An exploration of genetic counselors' needs and experiences with prenatal chromosomal microarray testing
    • Bernhardt B.A., Kellom K., Barbarese A., et al. An exploration of genetic counselors' needs and experiences with prenatal chromosomal microarray testing. J Genet Couns 2014, 23(6):938-947.
    • (2014) J Genet Couns , vol.23 , Issue.6 , pp. 938-947
    • Bernhardt, B.A.1    Kellom, K.2    Barbarese, A.3
  • 50
    • 84873547792 scopus 로고    scopus 로고
    • Women's experiences receiving abnormal prenatal chromosomal microarray testing results
    • Bernhardt B.A., Soucier D., Hanson K., et al. Women's experiences receiving abnormal prenatal chromosomal microarray testing results. Genet Med 2013, 15(2):139-145.
    • (2013) Genet Med , vol.15 , Issue.2 , pp. 139-145
    • Bernhardt, B.A.1    Soucier, D.2    Hanson, K.3
  • 51
    • 13844275639 scopus 로고    scopus 로고
    • The routine and the traumatic in prenatal genetic diagnosis: does clinical information inform patient decision-making?
    • Hunt L.M., de Voogd K.B., Castaneda H. The routine and the traumatic in prenatal genetic diagnosis: does clinical information inform patient decision-making?. Patient Educ Couns 2005, 56:302-312.
    • (2005) Patient Educ Couns , vol.56 , pp. 302-312
    • Hunt, L.M.1    de Voogd, K.B.2    Castaneda, H.3
  • 52
    • 84905233420 scopus 로고    scopus 로고
    • Theoretical performance of non-invasive prenatal testing for chromosome imbalances using counting of cell-free DNA fragments in maternal plasma
    • Benn P., Cuckle H. Theoretical performance of non-invasive prenatal testing for chromosome imbalances using counting of cell-free DNA fragments in maternal plasma. Prenat Diagn 2014, 34(8):778-783.
    • (2014) Prenat Diagn , vol.34 , Issue.8 , pp. 778-783
    • Benn, P.1    Cuckle, H.2
  • 53
    • 84924766673 scopus 로고    scopus 로고
    • Expanding the scope of noninvasive prenatal testing: detection of fetal micro deletion syndromes
    • Wapner R.J., Babiarz J.E., Levy B., et al. Expanding the scope of noninvasive prenatal testing: detection of fetal micro deletion syndromes. Am J Obstet Gynecol 2015, 212(3):332.e1-332.e9.
    • (2015) Am J Obstet Gynecol , vol.212 , Issue.3 , pp. 332.e1-332.e9
    • Wapner, R.J.1    Babiarz, J.E.2    Levy, B.3
  • 54
    • 84863574483 scopus 로고    scopus 로고
    • Detection of micro deletion 22 q11.2 in a fetus by next-generation sequencing of maternal plasma
    • Jensen T.J., Dzakula Z., Deciu C., et al. Detection of micro deletion 22 q11.2 in a fetus by next-generation sequencing of maternal plasma. Clin Chem 2012, 58(7):1148-1151.
    • (2012) Clin Chem , vol.58 , Issue.7 , pp. 1148-1151
    • Jensen, T.J.1    Dzakula, Z.2    Deciu, C.3
  • 55
    • 84937712692 scopus 로고    scopus 로고
    • Maternal cell-free DNA-based screening for fetal micro deletion and the importance of careful diagnostic follow-up
    • Yatsenko S.A., Peters D.G., Saller D.N., et al. Maternal cell-free DNA-based screening for fetal micro deletion and the importance of careful diagnostic follow-up. Genet Med 2015, 17(10):836-838.
    • (2015) Genet Med , vol.17 , Issue.10 , pp. 836-838
    • Yatsenko, S.A.1    Peters, D.G.2    Saller, D.N.3
  • 56
    • 84907056737 scopus 로고    scopus 로고
    • Noninvasive cell-free DNA-based prenatal detection of micro deletions sing single nucleotide polymorphism-targeted sequencing
    • Rabinowitz M., Savage M., Pettersen B., et al. Noninvasive cell-free DNA-based prenatal detection of micro deletions sing single nucleotide polymorphism-targeted sequencing. Obstet Gynecol 2014, 123(Suppl 1):167S.
    • (2014) Obstet Gynecol , vol.123 , pp. 167S
    • Rabinowitz, M.1    Savage, M.2    Pettersen, B.3
  • 57
    • 80955166920 scopus 로고    scopus 로고
    • Noninvasive prenatal diagnosis of a fetal microdeletion syndrome
    • Peters D., Chu T., Yatsenko S.A., et al. Noninvasive prenatal diagnosis of a fetal microdeletion syndrome. N Engl J Med 2011, 365(19):1847-1848.
    • (2011) N Engl J Med , vol.365 , Issue.19 , pp. 1847-1848
    • Peters, D.1    Chu, T.2    Yatsenko, S.A.3
  • 58
    • 84926144579 scopus 로고    scopus 로고
    • Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations
    • [Epub ahead of print]
    • Dondorp W., de Wert G., Bombard Y., et al. Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations. Eur J Hum Genet 2015, [Epub ahead of print].
    • (2015) Eur J Hum Genet
    • Dondorp, W.1    de Wert, G.2    Bombard, Y.3
  • 59
    • 84920848763 scopus 로고    scopus 로고
    • Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis
    • Akolekar R., Beta J., Picciarelli G., et al. Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis. Ultrasound Obstet Gynecol 2015, 45(1):16-26.
    • (2015) Ultrasound Obstet Gynecol , vol.45 , Issue.1 , pp. 16-26
    • Akolekar, R.1    Beta, J.2    Picciarelli, G.3


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