-
1
-
-
35348942303
-
Epidemiology of Down syndrome
-
Sherman, L.; Allen, E.G.; Bean, L.H.; Freeman, S.B. Epidemiology of Down syndrome. Ment Retard Dev. Disabil. Res. Rev. 2007, 13, 221-227.
-
(2007)
Ment Retard Dev. Disabil. Res. Rev.
, vol.13
, pp. 221-227
-
-
Sherman, L.1
Allen, E.G.2
Bean, L.H.3
Freeman, S.B.4
-
2
-
-
0038715444
-
Prenatal diagnosis for chromosome abnormalities: past, present and future
-
Ogivile, C.M. Prenatal diagnosis for chromosome abnormalities: past, present and future. Pathol. Biol. 2003, 51, 156-160.
-
(2003)
Pathol. Biol.
, vol.51
, pp. 156-160
-
-
Ogivile, C.M.1
-
3
-
-
0025836096
-
Screening for Down's syndrome based on individual risk
-
Lewis, M.; Faed, M.J.; Howie, P.W. Screening for Down's syndrome based on individual risk. BMJ 1991, 7, 551-553.
-
(1991)
BMJ
, vol.7
, pp. 551-553
-
-
Lewis, M.1
Faed, M.J.2
Howie, P.W.3
-
4
-
-
0037333249
-
Screening for chromosomal abnormalities in the first trimester using ultrasound and maternal serum biochemistry in a one-stop clinic: A review of three years prospective experience
-
Spencer, K.; Spencer, C.E.; Power, M.; Dawson, C.; Nicolaides, K.H. Screening for chromosomal abnormalities in the first trimester using ultrasound and maternal serum biochemistry in a one-stop clinic: A review of three years prospective experience. BJOG 2003, 110, 281-286.
-
(2003)
BJOG
, vol.110
, pp. 281-286
-
-
Spencer, K.1
Spencer, C.E.2
Power, M.3
Dawson, C.4
Nicolaides, K.H.5
-
5
-
-
4043100417
-
First-trimester screening for trisomy 21 combining biochemistry and ultrasound at individually optimal gestational ages An interventional study
-
Borrell, A.; Casals, E.; Fortuny, A.; Farre, M.T.; Gonce, A.; Sanchez, A.; Soler, A.; Cararach, V.; Vanrell, J.A. First-trimester screening for trisomy 21 combining biochemistry and ultrasound at individually optimal gestational ages. An interventional study. Prenatal Diag. 2004, 24, 541-545.
-
(2004)
Prenatal Diag
, vol.24
, pp. 541-545
-
-
Borrell, A.1
Casals, E.2
Fortuny, A.3
Farre, M.T.4
Gonce, A.5
Sanchez, A.6
Soler, A.7
Cararach, V.8
Vanrell, J.A.9
-
6
-
-
84855822587
-
Invasive prenatal diagnostic practice: A review of a ten years experience at Dexeus Institut
-
Comas Gabriel, C.; Echevarria Tellería, M.; Muñoz Prades, A.; Rodríguez García, I.; Carrera Martínez, M.; Serra Zantop, B. Invasive prenatal diagnostic practice: A review of a ten years experience at Dexeus Institut. Prenatal Diag. 2011, 22, 117-127.
-
(2011)
Prenatal Diag
, vol.22
, pp. 117-127
-
-
Comas Gabriel, C.1
Echevarria Tellería, M.2
Muñoz Prades, A.3
Rodríguez García, I.4
Carrera Martínez, M.5
Serra Zantop, B.6
-
7
-
-
61849156196
-
Impact of a new national screening policy for Down's syndrome in Denmark: population based cohort study
-
doi: 10.1136/bmj.a2547
-
Ekelund, C.K.; Jørgensen, F.S.; Petersen, O.B.; Sundberg, K.; Tabor, A. Impact of a new national screening policy for Down's syndrome in Denmark: population based cohort study. BMJ 2008, 27, doi: 10.1136/bmj.a2547.
-
(2008)
BMJ
, vol.27
-
-
Ekelund, C.K.1
Jørgensen, F.S.2
Petersen, O.B.3
Sundberg, K.4
Tabor, A.5
-
8
-
-
60849091619
-
Invasive prenatal diagnostic practice in Denmark 1996 to 2006
-
Vestergaard, C.H.; Lidegaard, Ø.; Tabor, A. Invasive prenatal diagnostic practice in Denmark 1996 to 2006. Acta Obstet. Gynecol. Scand. 2009, 88, 362-365.
-
(2009)
Acta Obstet. Gynecol. Scand.
, vol.88
, pp. 362-365
-
-
Vestergaard, C.H.1
Lidegaard, Ø.2
Tabor, A.3
-
9
-
-
79960559804
-
Trends in the utilization of invasive prenatal diagnosis in The Netherlands during 2000-2009
-
Lichtenbelt, K.D.; Alizadeh, B.Z.; Scheffer, P.G.; Stoutenbeek, P.; Schielen, P.C.; Page-Christiaens, L.C.; Schuring-Blom, G.H. Trends in the utilization of invasive prenatal diagnosis in The Netherlands during 2000-2009. Prenatal Diag. 2011, 31, 765-772.
-
(2011)
Prenatal Diag
, vol.31
, pp. 765-772
-
-
Lichtenbelt, K.D.1
Alizadeh, B.Z.2
Scheffer, P.G.3
Stoutenbeek, P.4
Schielen, P.C.5
Page-Christiaens, L.C.6
Schuring-Blom, G.H.7
-
10
-
-
84861482109
-
The population impact of screening for Down syndrome: Audit of 19326 invasive diagnostic tests in England and Wales in 2008
-
Morris, J.K.; Waters, J.J.; de Souza, E. The population impact of screening for Down syndrome: Audit of 19326 invasive diagnostic tests in England and Wales in 2008. Prenatal Diag. 2012, 32, 596-601.
-
(2012)
Prenatal Diag
, vol.32
, pp. 596-601
-
-
Morris, J.K.1
Waters, J.J.2
de Souza, E.3
-
11
-
-
79960700536
-
Prenatal cytogenetic diagnosis in Spain: Analysis and evaluation of the results obtained from amniotic fluid samples during the last decade
-
Mademont-Soler, I.; Morales, C.; Clusellas, N.; Soler, A.; Sánchez, A. Prenatal cytogenetic diagnosis in Spain: Analysis and evaluation of the results obtained from amniotic fluid samples during the last decade. Eur. J. Obstet. Gynecol. Reprod. Biol. 2011, 157, 156-160.
-
(2011)
Eur. J. Obstet. Gynecol. Reprod. Biol.
, vol.157
, pp. 156-160
-
-
Mademont-Soler, I.1
Morales, C.2
Clusellas, N.3
Soler, A.4
Sánchez, A.5
-
12
-
-
58149401897
-
Clinical and cytogenetic findings on 31,615 mid-trimester amniocenteses
-
Han, S.H.; An, J.W.; Jeong, G.Y.; Yoon, H.R.; Lee, A.; Yang, Y.H.; Lee, K.P.; Lee, K.R. Clinical and cytogenetic findings on 31,615 mid-trimester amniocenteses. Korean J. Lab. Med. 2008, 28, 378-385.
-
(2008)
Korean J. Lab. Med.
, vol.28
, pp. 378-385
-
-
Han, S.H.1
An, J.W.2
Jeong, G.Y.3
Yoon, H.R.4
Lee, A.5
Yang, Y.H.6
Lee, K.P.7
Lee, K.R.8
-
13
-
-
0029818072
-
Human aneuploidy: incidence, origin, and etiology
-
Hassold, T.; Abruzzo, M.; Adkins, K.; Griffin, D.; Merrill, M.; Millie, E.; Saker, D.; Shen, J.; Zaragoza, M. Human aneuploidy: incidence, origin, and etiology. Environ. Mol. Mutagen. 1996, 28, 167-175.
-
(1996)
Environ. Mol. Mutagen.
, vol.28
, pp. 167-175
-
-
Hassold, T.1
Abruzzo, M.2
Adkins, K.3
Griffin, D.4
Merrill, M.5
Millie, E.6
Saker, D.7
Shen, J.8
Zaragoza, M.9
-
14
-
-
0023944058
-
Parental decision following prenatal diagnosis of fetal chromosome abnormality
-
Verp, M.S.; Bombard, A.T.; Simpson, J.L.; Elias, S. Parental decision following prenatal diagnosis of fetal chromosome abnormality. Am. J. Med. Genet. 1988, 29, 613-622.
-
(1988)
Am. J. Med. Genet.
, vol.29
, pp. 613-622
-
-
Verp, M.S.1
Bombard, A.T.2
Simpson, J.L.3
Elias, S.4
-
15
-
-
0032988159
-
Long-term outcome in children of sex chromosome abnormalities
-
Ratcliffe, S. Long-term outcome in children of sex chromosome abnormalities. Arch. Dis. Child. 1999, 80, 192-195.
-
(1999)
Arch. Dis. Child.
, vol.80
, pp. 192-195
-
-
Ratcliffe, S.1
-
16
-
-
0036605245
-
Fifty-one prenatally diagnosed children and adolescents with sex chromosome abnormalities
-
Linden, M.G.; Bender, B.G. Fifty-one prenatally diagnosed children and adolescents with sex chromosome abnormalities. Am. J. Med. Genet. 2002, 110, 11-18.
-
(2002)
Am. J. Med. Genet.
, vol.110
, pp. 11-18
-
-
Linden, M.G.1
Bender, B.G.2
-
17
-
-
0033969134
-
Parental decisions following prenatal diagnosis of sex chromosome aneuploidy: A trend over time
-
Christian, S.M.; Koehn, D.; Pillay, R.; MacDougall, A.; Wilson, R.D. Parental decisions following prenatal diagnosis of sex chromosome aneuploidy: A trend over time. Prenatal Diag. 2000, 20, 37-40.
-
(2000)
Prenatal Diag
, vol.20
, pp. 37-40
-
-
Christian, S.M.1
Koehn, D.2
Pillay, R.3
MacDougall, A.4
Wilson, R.D.5
-
18
-
-
4043083448
-
Parental decisions following the prenatal diagnosis of sex chromosome abnormalities
-
Hamamy, H.A.; Dahoun, S. Parental decisions following the prenatal diagnosis of sex chromosome abnormalities. Eur. J. Obstet. Gynecol. Reprod. Biol. 2004, 116, 58-62.
-
(2004)
Eur. J. Obstet. Gynecol. Reprod. Biol.
, vol.116
, pp. 58-62
-
-
Hamamy, H.A.1
Dahoun, S.2
-
19
-
-
33747422841
-
Variation in the decision to terminate pregnancy in the setting of fetal aneuploidy
-
Shaffer, B.L.; Caughey, A.B.; Norton, M.E. Variation in the decision to terminate pregnancy in the setting of fetal aneuploidy. Prenatal Diag. 2006, 26, 667-671.
-
(2006)
Prenatal Diag
, vol.26
, pp. 667-671
-
-
Shaffer, B.L.1
Caughey, A.B.2
Norton, M.E.3
-
20
-
-
84865123678
-
Clinical utility of array comparative genomic hybridisation for prenatal diagnosis: A cohort study of 3171 pregnancies
-
Lee, C.N.; Lin, S.Y.; Lin, C.H.; Shih, J.C.; Lin, T.H.; Su, Y.N. Clinical utility of array comparative genomic hybridisation for prenatal diagnosis: A cohort study of 3171 pregnancies. BJOG 2012, 119, 1282.
-
(2012)
BJOG
, vol.119
, pp. 1282
-
-
Lee, C.N.1
Lin, S.Y.2
Lin, C.H.3
Shih, J.C.4
Lin, T.H.5
Su, Y.N.6
-
21
-
-
84862179634
-
Diagnóstico prenatal y array-CGH II: gestaciones de bajo riesgo
-
Querejeta, M.E.; Nieva, B.; Navajas, J.; Cigudosa, J.C.; Suela, J. Diagnóstico prenatal y array-CGH II: gestaciones de bajo riesgo. Prenatal Diag. 2012, 23, 49-55.
-
(2012)
Prenatal Diag
, vol.23
, pp. 49-55
-
-
Querejeta, M.E.1
Nieva, B.2
Navajas, J.3
Cigudosa, J.C.4
Suela, J.5
-
22
-
-
84859494373
-
Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis
-
Armengol, L.; Nevado, J.; Serra-Juhé, C.; Plaja, A.; Mediano, C.; García-Santiago, F.A.; García-Aragonés, M.; Villa, O.; Mansilla, E.; Preciado, C.; Fernández, L.; Ángeles Mori, M.; García-Pérez, L.; Lapunzina, P.D.; Pérez-Jurado, L.A. Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis. Hum. Genet. 2012, 131, 513-523.
-
(2012)
Hum. Genet.
, vol.131
, pp. 513-523
-
-
Armengol, L.1
Nevado, J.2
Serra-Juhé, C.3
Plaja, A.4
Mediano, C.5
García-Santiago, F.A.6
García-Aragonés, M.7
Villa, O.8
Mansilla, E.9
Preciado, C.10
Fernández, L.11
Ángeles Mori, M.12
García-Pérez, L.13
Lapunzina, P.D.14
Pérez-Jurado, L.A.15
-
23
-
-
82255183120
-
Introducing array comparative genomic hybridization into routine prenatal diagnosis practice: A prospective study on over 1000 consecutive clinical cases
-
Fiorentino, F.; Caiazzo, F.; Napolitano, S.; Spizzichino, L.; Bono, S.; Sessa, M.T.; Nuccitelli, A.; Biricik, A.; Gordon, A.; Rizzo, G; Baldi, M. Introducing array comparative genomic hybridization into routine prenatal diagnosis practice: A prospective study on over 1000 consecutive clinical cases. Prenatal Diag. 2011, 31, 1270-1282.
-
(2011)
Prenatal Diag
, vol.31
, pp. 1270-1282
-
-
Fiorentino, F.1
Caiazzo, F.2
Napolitano, S.3
Spizzichino, L.4
Bono, S.5
Sessa, M.T.6
Nuccitelli, A.7
Biricik, A.8
Gordon, A.9
Rizzo, G.10
Baldi, M.11
-
24
-
-
84859124052
-
Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature
-
Breman, A.; Pursley, A.N.; Hixson, P.; Bi, W.; Ward, P.; Bacino, C.A.; Shaw, C.H.; Lupski, J.R.; Beaudet, A.; Patel, A.; Cheung, S.W.; van den Veyver, I. Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature. Prenatal Diag. 2012, 32, 351-361.
-
(2012)
Prenatal Diag
, vol.32
, pp. 351-361
-
-
Breman, A.1
Pursley, A.N.2
Hixson, P.3
Bi, W.4
Ward, P.5
Bacino, C.A.6
Shaw, C.H.7
Lupski, J.R.8
Beaudet, A.9
Patel, A.10
Cheung, S.W.11
van den Veyver, I.12
-
25
-
-
84860440226
-
Re: Microarray application in prenatal diagnosis: A position statement from cytogenetics working group of the Italian Society of Human Genetics (SIGU) Novemebr 2011
-
Fiorentino, F.; Baldi, M. Re: Microarray application in prenatal diagnosis: A position statement from cytogenetics working group of the Italian Society of Human Genetics (SIGU), Novemebr 2011. Ultrasound Obstet. Gynecol. 2012, 39, 601-602.
-
(2012)
Ultrasound Obstet. Gynecol.
, vol.39
, pp. 601-602
-
-
Fiorentino, F.1
Baldi, M.2
-
26
-
-
78650632807
-
Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: A systematic review and meta-analysis
-
Hillman, S.C.; Pretlove, S.; Coomarasamy, A.; McMullan, D.J.; Davison, E.V.; Maher, E.R.; Kilby, M.D. Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: A systematic review and meta-analysis. Ultrasound Obstet. Gynecol. 2011, 37, 6-14.
-
(2011)
Ultrasound Obstet. Gynecol.
, vol.37
, pp. 6-14
-
-
Hillman, S.C.1
Pretlove, S.2
Coomarasamy, A.3
McMullan, D.J.4
Davison, E.V.5
Maher, E.R.6
Kilby, M.D.7
-
27
-
-
84859358210
-
Microarray application in prenatal diagnosis: A position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU) November 2011
-
Novelli, A.; Grati, F.R.; Ballarati, L.; Bernardini, L.; Bizzoco, D.; Camurri, L.; Casalone, R.; Cardarelli, L.; Cavalli, P.; Ciccone, R.; et al. Microarray application in prenatal diagnosis: A position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011. Ultrasound Obstet. Gynecol. 2012, 39, 384-388.
-
(2012)
Ultrasound Obstet. Gynecol.
, vol.39
, pp. 384-388
-
-
Novelli, A.1
Grati, F.R.2
Ballarati, L.3
Bernardini, L.4
Bizzoco, D.5
Camurri, L.6
Casalone, R.7
Cardarelli, L.8
Cavalli, P.9
Ciccone, R.10
-
28
-
-
78751683468
-
Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: Large scale validation study
-
Chiu, R.W.K.; Akolekar, R.; Zheng, Y.W.L.; Leung, T.K.; Sun, H.; Chan, K.C.A.; Lun, F.M.F.; Go, A.T.J.I.; Lau, E.T.; To, W.W.K. et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: Large scale validation study. Brit. Med. J. 2011, 342, c7401.
-
(2011)
Brit. Med. J.
, vol.342
-
-
Chiu, R.W.K.1
Akolekar, R.2
Zheng, Y.W.L.3
Leung, T.K.4
Sun, H.5
Chan, K.C.A.6
Lun, F.M.F.7
Go, A.T.J.I.8
Lau, E.T.9
To, W.W.K.10
-
29
-
-
84859361254
-
Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: Evaluation for trisomy 21 and trisomy 18
-
Sparks, A.B.; Struble, C.A.; Wang, E.T.; Song. K.; Oliphant, A. 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. 2012, 206, 319e1-319e9.
-
(2012)
Am. J. Obstet. Gynecol.
, vol.206
-
-
Sparks, A.B.1
Struble, C.A.2
Wang, E.T.3
Song, K.4
Oliphant, A.5
-
30
-
-
84864408781
-
Non-Invasive Chromosomal Evaluation (NICE) Study: Results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18
-
Norton, M.E.; Brar, H.; Weiss, J.; Karimi, A.; Laurent, L.C.; Caughey, A.B.; Rodriguez, M.H.; Williams, J.; Mitchell, M.E.; Adair, C.D.; et al. 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. 2012, 207, 137e1-137e8.
-
(2012)
Am. J. Obstet. Gynecol.
, vol.207
-
-
Norton, M.E.1
Brar, H.2
Weiss, J.3
Karimi, A.4
Laurent, L.C.5
Caughey, A.B.6
Rodriguez, M.H.7
Williams, J.8
Mitchell, M.E.9
Adair, C.D.10
|