메뉴 건너뛰기




Volumn 212, Issue 1, 2015, Pages 79.e1-79.e9

Detection of triploid, molar, and vanishing twin pregnancies by a single-nucleotide polymorphism-based noninvasive prenatal test

Author keywords

noninvasive prenatal testing; single nucleotide polymorphism; triploidy; vanishing twin

Indexed keywords

ADULT; ARTICLE; BLOOD SAMPLING; COHORT ANALYSIS; FEMALE; FETUS ECHOGRAPHY; FIRST TRIMESTER PREGNANCY; GENE DOSAGE; GESTATIONAL AGE; HAPLOTYPE; HUMAN; HYDATIDIFORM MOLE; KARYOTYPE; MAJOR CLINICAL STUDY; MATERNAL BLOOD; NON INVASIVE PROCEDURE; POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; TRIPLOIDY; TRISOMY 18; TWIN PREGNANCY; VANISHING TWIN PREGNANCY; ADOLESCENT; FETUS RESORPTION; GENETICS; MIDDLE AGED; PREGNANCY; PRENATAL DIAGNOSIS; PROCEDURES; YOUNG ADULT;

EID: 84919424427     PISSN: 00029378     EISSN: 10976868     Source Type: Journal    
DOI: 10.1016/j.ajog.2014.10.012     Document Type: Article
Times cited : (150)

References (42)
  • 2
    • 84857868297 scopus 로고    scopus 로고
    • DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: An international collaborative study
    • G.E. Palomaki, C. Deciu, and E.M. Kloza DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study Genet Med 14 2012 296 305
    • (2012) Genet Med , vol.14 , pp. 296-305
    • Palomaki, G.E.1    Deciu, C.2    Kloza, E.M.3
  • 3
    • 80755172331 scopus 로고    scopus 로고
    • DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study
    • G.E. Palomaki, E.M. Kloza, and G.M. Lambert-Messerlian DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study Genet Med 13 2011 913 920
    • (2011) Genet Med , vol.13 , pp. 913-920
    • Palomaki, G.E.1    Kloza, E.M.2    Lambert-Messerlian, G.M.3
  • 4
    • 84859320067 scopus 로고    scopus 로고
    • Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18
    • G. Ashoor, A. Syngelaki, M. Wagner, C. Birdir, and K.H. Nicolaides Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18 Am J Obstet Gynecol 206 2012 322.e1 322.e5
    • (2012) Am J Obstet Gynecol , vol.206 , pp. 322e1-322e5
    • Ashoor, G.1    Syngelaki, A.2    Wagner, M.3    Birdir, C.4    Nicolaides, K.H.5
  • 5
    • 84871532946 scopus 로고    scopus 로고
    • Trisomy 13 detection in the first trimester of pregnancy using a chromosome-selective cell-free DNA analysis method
    • G. Ashoor, A. Syngelaki, and E. Wang Trisomy 13 detection in the first trimester of pregnancy using a chromosome-selective cell-free DNA analysis method Ultrasound Obstet Gynecol 41 2013 21 25
    • (2013) Ultrasound Obstet Gynecol , vol.41 , pp. 21-25
    • Ashoor, G.1    Syngelaki, A.2    Wang, E.3
  • 6
    • 84864408781 scopus 로고    scopus 로고
    • Non-invasive chromosomal evaluation (NICE) study: Results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18
    • M.E. Norton, H. Brar, and J. Weiss Non-invasive chromosomal evaluation (NICE) study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18 Am J Obstet Gynecol 207 2012 137.e1 137.e8
    • (2012) Am J Obstet Gynecol , vol.207 , pp. 137e1-137e8
    • Norton, M.E.1    Brar, H.2    Weiss, J.3
  • 7
    • 84859361254 scopus 로고    scopus 로고
    • Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: Evaluation for trisomy 21 and trisomy 18
    • A.B. Sparks, C.A. Struble, E.T. Wang, K. Song, and A. Oliphant Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18 Am J Obstet Gynecol 206 2012 319.e1 319.e9
    • (2012) Am J Obstet Gynecol , vol.206 , pp. 319e1-319e9
    • Sparks, A.B.1    Struble, C.A.2    Wang, E.T.3    Song, K.4    Oliphant, A.5
  • 8
    • 84857502701 scopus 로고    scopus 로고
    • Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy
    • A.B. Sparks, E.T. Wang, and C.A. Struble Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy Prenat Diagn 32 2012 3 9
    • (2012) Prenat Diagn , vol.32 , pp. 3-9
    • Sparks, A.B.1    Wang, E.T.2    Struble, C.A.3
  • 9
    • 84878164024 scopus 로고    scopus 로고
    • Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and y
    • K.H. Nicolaides, A. Syngelaki, M. Gil, V. Atanasova, and D. Markova Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y Prenat Diagn 33 2013 575 579
    • (2013) Prenat Diagn , vol.33 , pp. 575-579
    • Nicolaides, K.H.1    Syngelaki, A.2    Gil, M.3    Atanasova, V.4    Markova, D.5
  • 10
  • 11
    • 84880041032 scopus 로고    scopus 로고
    • SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy
    • C. Samango-Sprouse, M. Banjevic, and A. Ryan SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy Prenat Diagn 33 2013 643 649
    • (2013) Prenat Diagn , vol.33 , pp. 643-649
    • Samango-Sprouse, C.1    Banjevic, M.2    Ryan, A.3
  • 12
    • 84905093469 scopus 로고    scopus 로고
    • Single-nucleotide polymorphism-based noninvasive prenatal testing in a high-risk and low-risk cohort
    • E. Pergament, H. Cuckle, and B. Zimmermann Single-nucleotide polymorphism-based noninvasive prenatal testing in a high-risk and low-risk cohort Obstet Gynecol 124 2014 210 218
    • (2014) Obstet Gynecol , vol.124 , pp. 210-218
    • Pergament, E.1    Cuckle, H.2    Zimmermann, B.3
  • 13
    • 84870695892 scopus 로고    scopus 로고
    • Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci
    • B. Zimmermann, M. Hill, and G. Gemelos Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci Prenat Diagn 32 2012 1233 1241
    • (2012) Prenat Diagn , vol.32 , pp. 1233-1241
    • Zimmermann, B.1    Hill, M.2    Gemelos, G.3
  • 14
    • 84878120833 scopus 로고    scopus 로고
    • Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples
    • T. Futch, J. Spinosa, S. Bhatt, E. de Feo, R.P. Rava, and A.J. Sehnert Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples Prenat Diagn 33 2013 569 574
    • (2013) Prenat Diagn , vol.33 , pp. 569-574
    • Futch, T.1    Spinosa, J.2    Bhatt, S.3    De Feo, E.4    Rava, R.P.5    Sehnert, A.J.6
  • 15
    • 84908296065 scopus 로고    scopus 로고
    • Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing
    • P. Dar, K.J. Curnow, and B. Zimmermann Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing Am J Obstet Gynecol 211 2014 527.e1 527.e17
    • (2014) Am J Obstet Gynecol , vol.211 , pp. 527e1-527e17
    • Dar, P.1    Curnow, K.J.2    Zimmermann, B.3
  • 16
    • 0025103297 scopus 로고
    • A case-control study of 1253 twin pregnancies from a 1982-1987 perinatal data base
    • W.N. Spellacy, A. Handler, and C.D. Ferre A case-control study of 1253 twin pregnancies from a 1982-1987 perinatal data base Obstet Gynecol 75 1990 168 171
    • (1990) Obstet Gynecol , vol.75 , pp. 168-171
    • Spellacy, W.N.1    Handler, A.2    Ferre, C.D.3
  • 17
    • 84862545266 scopus 로고    scopus 로고
    • Epidemiology of twinning in developed countries
    • C.V. Ananth, and S.P. Chauhan Epidemiology of twinning in developed countries Semin Perinatol 36 2012 156 161
    • (2012) Semin Perinatol , vol.36 , pp. 156-161
    • Ananth, C.V.1    Chauhan, S.P.2
  • 18
    • 38449105506 scopus 로고    scopus 로고
    • Invasive prenatal testing for aneuploidy. ACOG Practice bulletin no. 88
    • American College of Obstetricians and Gynecologists
    • American College of Obstetricians and Gynecologists Invasive prenatal testing for aneuploidy. ACOG Practice bulletin no. 88 Obstet Gynecol 110 2007 1459 1467
    • (2007) Obstet Gynecol , vol.110 , pp. 1459-1467
  • 19
    • 0028795580 scopus 로고
    • Outcome of triplet pregnancies after assisted reproductive techniques: How frequent are the vanishing embryos?
    • A. Manzur, M.P. Goldsman, S.C. Stone, J.L. Frederick, J.P. Balmaceda, and R.H. Asch Outcome of triplet pregnancies after assisted reproductive techniques: how frequent are the vanishing embryos? Fertil Steril 63 1995 252 257
    • (1995) Fertil Steril , vol.63 , pp. 252-257
    • Manzur, A.1    Goldsman, M.P.2    Stone, S.C.3    Frederick, J.L.4    Balmaceda, J.P.5    Asch, R.H.6
  • 20
    • 84907705050 scopus 로고    scopus 로고
    • Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA
    • R.P. Porreco, T.J. Garite, and K. Maurel Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA Am J Obstet Gynecol 211 2014 365.e1 365.e12
    • (2014) Am J Obstet Gynecol , vol.211 , pp. 365e1-365e12
    • Porreco, R.P.1    Garite, T.J.2    Maurel, K.3
  • 22
    • 77956263994 scopus 로고    scopus 로고
    • Gestational trophoblastic disease
    • M.J. Seckl, N.J. Sebire, and R.S. Berkowitz Gestational trophoblastic disease Lancet 376 2010 717 729
    • (2010) Lancet , vol.376 , pp. 717-729
    • Seckl, M.J.1    Sebire, N.J.2    Berkowitz, R.S.3
  • 23
    • 84907687207 scopus 로고    scopus 로고
    • Triploid pregnancies, genetic and clinical features of 158 cases
    • M.W. Joergensen, I. Niemann, and A.A. Rasmussen Triploid pregnancies, genetic and clinical features of 158 cases Am J Obstet Gynecol 211 2014 370.e1 370.e19
    • (2014) Am J Obstet Gynecol , vol.211 , pp. 370e1-370e19
    • Joergensen, M.W.1    Niemann, I.2    Rasmussen, A.A.3
  • 24
    • 0033941722 scopus 로고    scopus 로고
    • Parental origin and phenotype of triploidy in spontaneous abortions: Predominance of diandry and association with the partial hydatidiform mole
    • M.V. Zaragoza, U. Surti, R.W. Redline, E. Millie, A. Chakravarti, and T.J. Hassold Parental origin and phenotype of triploidy in spontaneous abortions: predominance of diandry and association with the partial hydatidiform mole Am J Hum Genet 66 2000 1807 1820
    • (2000) Am J Hum Genet , vol.66 , pp. 1807-1820
    • Zaragoza, M.V.1    Surti, U.2    Redline, R.W.3    Millie, E.4    Chakravarti, A.5    Hassold, T.J.6
  • 25
    • 79952115263 scopus 로고    scopus 로고
    • Gestational trophoblastic disease I: Epidemiology, pathology, clinical presentation and diagnosis of gestational trophoblastic disease, and management of hydatidiform mole
    • J.R. Lurain Gestational trophoblastic disease I: epidemiology, pathology, clinical presentation and diagnosis of gestational trophoblastic disease, and management of hydatidiform mole Am J Obstet Gynecol 203 2010 531 539
    • (2010) Am J Obstet Gynecol , vol.203 , pp. 531-539
    • Lurain, J.R.1
  • 26
    • 0034241058 scopus 로고    scopus 로고
    • Analysis of the spectrum of malformations in human fetuses of the second and third trimester of pregnancy with human triploidy
    • C. Sergi, M. Schiesser, S. Adam, and H.F. Otto Analysis of the spectrum of malformations in human fetuses of the second and third trimester of pregnancy with human triploidy Pathologica 92 2000 257 263
    • (2000) Pathologica , vol.92 , pp. 257-263
    • Sergi, C.1    Schiesser, M.2    Adam, S.3    Otto, H.F.4
  • 27
    • 67349222715 scopus 로고    scopus 로고
    • Centers for Disease Control and Prevention ASfRM, Technology SfAR US Department of Health and Human Services, Centers for Disease Control and Prevention Atlanta, GA
    • Centers for Disease Control and Prevention ASfRM, Technology SfAR 2010 Assisted reproductive technology national summary report 2012 US Department of Health and Human Services, Centers for Disease Control and Prevention Atlanta, GA
    • (2012) 2010 Assisted Reproductive Technology National Summary Report
  • 29
    • 84989078139 scopus 로고
    • Vanishing twins: The frequency of spontaneous fetal reduction of a twin pregnancy
    • A. Sampson, and L.C. de Crespigny Vanishing twins: the frequency of spontaneous fetal reduction of a twin pregnancy Ultrasound Obstet Gynecol 2 1992 107 109
    • (1992) Ultrasound Obstet Gynecol , vol.2 , pp. 107-109
    • Sampson, A.1    De Crespigny, L.C.2
  • 30
    • 0022597088 scopus 로고
    • The "vanishing twin": Ultrasonographic assessment of fetal disappearance in the first trimester
    • H.J. Landy, S. Weiner, S.L. Corson, F.R. Batzer, and R.J. Bolognese The "vanishing twin": ultrasonographic assessment of fetal disappearance in the first trimester Am J Obstet Gynecol 155 1986 14 19
    • (1986) Am J Obstet Gynecol , vol.155 , pp. 14-19
    • Landy, H.J.1    Weiner, S.2    Corson, S.L.3    Batzer, F.R.4    Bolognese, R.J.5
  • 31
  • 33
    • 0036155441 scopus 로고    scopus 로고
    • Spontaneous reduction of multiple pregnancy: Incidence and effect on outcome
    • R.P. Dickey, S.N. Taylor, and P.Y. Lu Spontaneous reduction of multiple pregnancy: incidence and effect on outcome Am J Obstet Gynecol 186 2002 77 83
    • (2002) Am J Obstet Gynecol , vol.186 , pp. 77-83
    • Dickey, R.P.1    Taylor, S.N.2    Lu, P.Y.3
  • 34
    • 0028849426 scopus 로고
    • Maternal age and gestational age-specific risk for chromosomal defects
    • R.J. Snijders, N.J. Sebire, and K.H. Nicolaides Maternal age and gestational age-specific risk for chromosomal defects Fetal Diagn Ther 10 1995 356 367
    • (1995) Fetal Diagn Ther , vol.10 , pp. 356-367
    • Snijders, R.J.1    Sebire, N.J.2    Nicolaides, K.H.3
  • 36
    • 9744235969 scopus 로고    scopus 로고
    • National Center for Health Statistics, Centers for Disease Control and Prevention Hyattsville, MD
    • T.J. Mathews, and B.E. Hamilton Mean age of mother, 1970-2000 Vol 51 2002 National Center for Health Statistics, Centers for Disease Control and Prevention Hyattsville, MD
    • (2002) Mean Age of Mother, 1970-2000 , vol.51
    • Mathews, T.J.1    Hamilton, B.E.2
  • 38
    • 78049309848 scopus 로고    scopus 로고
    • The impact of vanishing fetuses on the outcome of ICSI pregnancies
    • R. Mansour, G. Serour, M. Aboulghar, O. Kamal, and H. Al-Inany The impact of vanishing fetuses on the outcome of ICSI pregnancies Fertil Steril 94 2010 2430 2432
    • (2010) Fertil Steril , vol.94 , pp. 2430-2432
    • Mansour, R.1    Serour, G.2    Aboulghar, M.3    Kamal, O.4    Al-Inany, H.5
  • 39
    • 84891526404 scopus 로고    scopus 로고
    • Reliability of 46,XX results on miscarriage specimens: A review of 1,222 first-trimester miscarriage specimens
    • R.B. Lathi, S.L. Gustin, and J. Keller Reliability of 46,XX results on miscarriage specimens: a review of 1,222 first-trimester miscarriage specimens Fertil Steril 101 2013 178 182
    • (2013) Fertil Steril , vol.101 , pp. 178-182
    • Lathi, R.B.1    Gustin, S.L.2    Keller, J.3
  • 40
    • 84905112289 scopus 로고    scopus 로고
    • Genomic imbalance in products of conception: Single nucleotide polymorphism chromosomal microarray analysis
    • B. Levy, S. Sigurjonsson, and B. Pettersen Genomic imbalance in products of conception: single nucleotide polymorphism chromosomal microarray analysis Obstet Gynecol 124 2014 202 209
    • (2014) Obstet Gynecol , vol.124 , pp. 202-209
    • Levy, B.1    Sigurjonsson, S.2    Pettersen, B.3
  • 41
    • 34447330701 scopus 로고    scopus 로고
    • Correlation of maternal plasma total cell-free DNA and fetal DNA levels with short term outcome of first-trimester vaginal bleeding
    • A. Yin, E.H. Ng, X. Zhang, Y. He, J. Wu, and K.Y. Leung Correlation of maternal plasma total cell-free DNA and fetal DNA levels with short term outcome of first-trimester vaginal bleeding Hum Reprod 22 2007 1736 1743
    • (2007) Hum Reprod , vol.22 , pp. 1736-1743
    • Yin, A.1    Ng, E.H.2    Zhang, X.3    He, Y.4    Wu, J.5    Leung, K.Y.6
  • 42
    • 84874084658 scopus 로고    scopus 로고
    • Cell-free fetal DNA and cell-free total DNA levels in spontaneous abortion with fetal chromosomal aneuploidy
    • J.H. Lim, M.H. Kim, and Y.J. Han Cell-free fetal DNA and cell-free total DNA levels in spontaneous abortion with fetal chromosomal aneuploidy PLoS One 8 2013 e56787
    • (2013) PLoS One , vol.8 , pp. 56787
    • Lim, J.H.1    Kim, M.H.2    Han, Y.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.