Preimplantation genetic diagnosis at 20 years

Simpson, Joe Leigh

doi:10.1002/pd.2552

Cited by 117Prenatal Screening and DiagnosticsAssisted Reproductive Technology and Twin PregnancyMedical and Health Sciences Research

Preimplantation genetic diagnosis at 20 years

Simpson, Joe Leigh·2010·Prenatal Diagnosis

DOI 10.1002/pd.2552

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Abstract

First reported in 1990, PGD has evolved into a complementary form of prenatal diagnosis offering novel indications. DNA for PGD can be recovered with equal safety and facility from polar bodies I and II, blastomere (8 cell embryo) and trophectoderm (5-6 day blastocyst). Diagnostic accuracy is very high (>99%) for both chromosomal abnormalities and single gene disorders. Traditional application of FISH with chromosome specific probes for detecting aneuploidy and translocations may be replaced or complemented by array comparative genome hybridization (array CGH); biopsied embryos can now be cryopreserved (vitrification) while analysis proceeds in orderly fashion. PGD has been accomplished for over 200 different single gene disorders. Novel indications for PGD not readily applicable by traditional prenatal genetic diagnosis include avoiding clinical pregnancy termination, performing preconceptional diagnosis (polar body I), obtaining prenatal diagnosis without disclosure of prenatal genotype (nondisclosure), diagnosing adult-onset disorders particularly cancer, and identifying HLA compatible embryos suitable for recovering umbilical cord blood stem cells.

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Efforts have been made to develop diagnostic techniques using cell free fetal DNA in maternal blood samples, but these are not yet routinely available.
“In order to minimize the exposure to Dex, efforts have been made to develop diagnostic techniques using cell free fetal DNA in maternal blood samples, but these are not yet routinely available (see section IV.D)(325).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [325]
Targeted massive parallel sequencing of cell-free fetal DNA in maternal plasma can identify SNPs flanking CYP21A2 that are specific for the mother, father, and proband, thus constructing haplotype blocks to determine the maternal and paternal alleles inherited by the fetus.
“Instead, targeted massive parallel sequencing of cell-free fetal DNA in maternal plasma can identify SNPs flanking CYP21A2 that are specific for the mother, father, and proband (previous child), thus constructing haplotype blocks to determine the maternal and paternal alleles inherited by the fetus (325).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [325]

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Preimplantation genetic screening to improve in vitro fertilization pregnancy rates: a prospective randomized controlled trial
Mersereau, J. E., Pergament, E., Zhang, X., & Milad, M. P. (2007) · Fertility and Sterility · doi:10.1016/j.fertnstert.2007.08.010 · Cited by 75 · see citing works
Nuclear transfer for full karyotyping and preimplantation diagnosis for translocations
Verlinsky, Y., Cieslak, J., Evsikov, S., Galat, V., & Kuliev, A. (2002) · Reproductive BioMedicine Online · doi:10.1016/s1472-6483(10)61836-6 · Cited by 67 · see citing works
Thirteen years' experience of preimplantation diagnosis: report of the Fifth International Symposium on Preimplantation Genetics
Kuliev, A., & Verlinsky, Y. (2004) · Reproductive BioMedicine Online · doi:10.1016/s1472-6483(10)60521-4 · Cited by 67 · see citing works
Practical Preimplantation Genetic Diagnosis
Kuliev, A. (2012) · Springer eBooks · doi:10.1007/978-1-4471-4090-0 · Cited by 67 · see citing works
Perspectives on the efficacy and indications for preimplantation genetic screening: where are we now?
Fritz, M. A. (2008) · Human Reproduction · doi:10.1093/humrep/den400 · Cited by 63 · see citing works
Multiple micromanipulations for preimplantation genetic diagnosis do not affect embryo development to the blastocyst stage
Cieslak, J., Tur-Kaspa, I., Ilkevitch, Y., Bernal, A., Morris, R. S., & Verlinsky, Y. (2006) · Fertility and Sterility · doi:10.1016/j.fertnstert.2005.11.059 · Cited by 61 · see citing works
An Atlas of Preimplantation Genetic Diagnosis
Verlinsky, Y., & Kuliev, A. (2004) · CRC Press eBooks · doi:10.1201/b14655 · Cited by 61 · see citing works
Improved detection of aneuploid blastocysts using a new 12-chromosome FISH test
Munné, S., Fragouli, E., Colls, P., Katz-Jaffe, M. G., Schoolcraft, W. B., & Wells, D. (2009) · Reproductive BioMedicine Online · doi:10.1016/j.rbmo.2009.10.015 · Cited by 58 · see citing works
Growth and health outcome of 102 2-year-old children conceived after preimplantation genetic diagnosis or screening
Desmyttere, S., Bonduelle, M., Nekkebroeck, J., Roelants, M., Liebaers, I., & Schepper, J. D. (2009) · Early Human Development · doi:10.1016/j.earlhumdev.2009.10.003 · Cited by 53 · see citing works
Preembryo biopsy and analysis of blastomeres by in situ hybridization
GRIFO, J. A., Boyle, A. L., Fischer, E., Lavy, G., DeCherney, A. H., Ward, D. C., & Sanyal, M. K. (1990) · American Journal of Obstetrics and Gynecology · doi:10.1016/0002-9378(90)90789-a · Cited by 53 · see citing works
What next for preimplantation genetic screening? Randomized clinical trial in assessing PGS: necessary but not sufficient
Simpson, J. L. (2008) · Human Reproduction · doi:10.1093/humrep/den250 · Cited by 53 · see citing works
Self-citation
A simplified and efficient method for obtaining metaphase chromosomes from individual human blastomeres
Verlinsky, Y., & Evsikov, S. (1999) · Fertility and Sterility · doi:10.1016/s0015-0282(99)00394-5 · Cited by 50 · see citing works
First IVF babies born after rapid 24 chromosome embryo aneuploidy screening and fresh embryo transfer
Treff, N. R., Su, J., Tao, X., Miller, K. A., & Scott, R. T. (2009) · Fertility and Sterility · doi:10.1016/j.fertnstert.2009.07.190 · Cited by 44 · see citing works
The possible role of the immune system in the aetiopathogenesis of ovarian hyperstimulation syndrome
Mathur, R., Jenkins, J. M., & Bansal, A. S. (1997) · Human Reproduction · doi:10.1093/humrep/12.12.2629 · Cited by 40 · see citing works
Genetic analysis of human embryos by metaphase comparative genomic hybridization (mCGH) improves efficiency of IVF by increasing embryo implantation rate and reducing multiple pregnancies and spontaneous miscarriages
Sher, G., Keskintepe, L., Keskintepe, M., Maassarani, G., Tortoriello, D. V., & Brody, S. A. (2009) · Fertility and Sterility · doi:10.1016/j.fertnstert.2008.11.029 · Cited by 39 · see citing works
Preimplantation Genetics
(1991) · Springer eBooks · doi:10.1007/978-1-4684-1351-9 · Cited by 36 · see citing works
Practical Preimplantation Genetic Diagnosis
Verlinsky, Y., & Kuliev, A. (2005) · Springer eBooks · doi:10.1007/1-84628-139-3 · Cited by 35 · see citing works
Preimplantation genetic diagnosis: technological advances to improve accuracy and range of applications
Kuliev, A., & Verlinsky, Y. (2008) · Reproductive BioMedicine Online · doi:10.1016/s1472-6483(10)60460-9 · Cited by 33 · see citing works
The role of preimplantation genetic diagnosis in diagnosing embryo aneuploidy
Munné, S., Howles, C. M., & Wells, D. (2009) · Current Opinion in Obstetrics & Gynecology · doi:10.1097/gco.0b013e32832fad73 · Cited by 32 · see citing works
Children born after preimplantation genetic diagnosis show no increase in congenital anomalies
Simpson, J. L. (2009) · Human Reproduction · doi:10.1093/humrep/dep428 · Cited by 32 · see citing works
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Preimplantation genetic diagnosis
Verlinsky, Y. (1996) · Journal of Assisted Reproduction and Genetics · doi:10.1007/bf02072526 · Cited by 31 · see citing works
Celebrating preimplantation genetic diagnosis of p53 mutations in Li-Fraumeni syndrome
Simpson, J. L. (2001) · Reproductive BioMedicine Online · doi:10.1016/s1472-6483(10)61953-0 · Cited by 31 · see citing works
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Perspectives on assisted reproduction
森, 崇., 青野, 敏., Tominaga, T., & 広井, 正. (1994) · Medical Entomology and Zoology · Cited by 30 · see citing works
Preimplantation HLA typing and stem cell transplantation: report of International Meeting, Cyprus, 27–28 March, 2004
Kuliev, A., & Verlinsky, Y. (2004) · Reproductive BioMedicine Online · doi:10.1016/s1472-6483(10)62131-1 · Cited by 30 · see citing works
Visualization and cytogenetic analysis of second polar body chromosomes following its fusion with a one-cell mouse embryo
Verlinsky, Y., Dozortsev, D., & Evsikov, S. (1994) · Journal of Assisted Reproduction and Genetics · doi:10.1007/bf02332089 · Cited by 25 · see citing works
Pregnancy after embryo biopsy and coamplification of DNA from X and Y chromosomes
GRIFO, J. A. (1992) · JAMA · doi:10.1001/jama.268.6.727 · Cited by 24 · see citing works
Preimplantation Genetic Diagnosis
Ao, A. (2002) · CRC Press eBooks · doi:10.1201/9780203909379.ch7 · Cited by 23 · see citing works
Conversion and non-conversion approach to preimplantation diagnosis for chromosomal rearrangements in 475 cycles
Kuliev, A., Cieslak, J., Zlatopolsky, Z., Kirillova, I., Ilkevitch, Y., & Verlinsky, Y. (2010) · Reproductive BioMedicine Online · doi:10.1016/j.rbmo.2010.04.003 · Cited by 22 · see citing works
Preimplantation genetic diagnosis. In situ hybridization as a tool for analysis.
GRIFO, J. A., Boyle, A., Tang, Y.-X., & Ward, D. C. (1992) · PubMed · Cited by 21 · see citing works
Changing indications for preimplantation genetic diagnosis (PGD)
Simpson, J. L. (2001) · Molecular and Cellular Endocrinology · doi:10.1016/s0303-7207(01)00573-1 · Cited by 19 · see citing works
Self-citation
Obtaining metaphase spreads from single blastomeres for PGD of chromosomal rearrangements
Shkumatov, A. A., Kuznyetsov, V., Cieslak, J., Ilkevitch, Y., & Verlinsky, Y. (2007) · Reproductive BioMedicine Online · doi:10.1016/s1472-6483(10)60899-1 · Cited by 19 · see citing works
Preimplantation genetic diagnosis
Verlinsky, Y., & Kuliev, A. (1999) · Reproductive Medicine Review · doi:10.1017/s0962279999000113 · Cited by 16 · see citing works
Preimplantation Genetic Diagnosis
Sueoka, K. (2009) · Cambridge University Press eBooks · doi:10.1017/cbo9780511581571 · Cited by 15 · see citing works
Four hour 24 chromosome aneuploidy screening using high throughput PCR SNP allele ratio analyses
Treff, N. R., Tao, X., Su, J., Taylor, D. M., Miller, K. A., & Scott, R. T. (2009) · Fertility and Sterility · doi:10.1016/j.fertnstert.2009.07.193 · Cited by 14 · see citing works
Genetic Analysis of Human Embryos Prior to Implantation: Future Applications of In Vitro Fertilization in the Treatment and Prevention of Human Genetic Diseases
Verlinsky, Y., Pergament, E., Binor, Z., & Rawlins, R. G. (1987) · Springer eBooks · doi:10.1007/978-3-642-71412-2_36 · Cited by 13 · see citing works
Clinical success with vitrification following trophectoderm biopsy for comprehensive chromosomal screening
Schlenker, T., Stevens, J., Rawlins, M., McCormick, S., Katz-Jaffe, M., & Schoolcraft, W. B. (2009) · Fertility and Sterility · doi:10.1016/j.fertnstert.2009.07.276 · Cited by 12 · see citing works
Preimplantation Genetic Diagnosis
Verlinsky, Y., & Kuliev, A. (2009) · doi:10.1002/9781444314342.ch29 · Cited by 12 · see citing works
Reply of the Committee: Parental translocations and need for preimplantation genetic diagnosis? Distorting effects of ascertainment bias and the need for information-rich families
Fritz, M. A., & Schattman, G. L. (2008) · Fertility and Sterility · doi:10.1016/j.fertnstert.2008.06.027 · Cited by 10 · see citing works
Experimental Cytogenetics of Preimplantation Development
Dyban, A. P. (1991) · Springer eBooks · doi:10.1007/978-1-4684-1351-9_3 · Cited by 9 · see citing works
PGD impact on stem cell transplantation
Rechitsky, S., Kuliev, A., Sharapova, T., Barsky, I., Verlinsky, O., Tur-Kaspa, I., & Verlinsky, Y. (2009) · Reproductive BioMedicine Online · doi:10.1016/s1472-6483(10)61198-4 · Cited by 8 · see citing works
Comprar Preimplantation Genetic Diagnosis 2Ed | Alan H. Handyside | 9780521884716 | Cambridge University Press
Handyside, A. H., Delhanty, J., & Harper, J. C. (2009) · Cited by 7 · see citing works
Highly significant improvement in embryo implantation and increased live birth rate achieved after comprehensive chromosomal screening: implications for single embryo transfer
Wells, D., Fragouli, E., Alfarawaty, S., Munné, S., Schoolcraft, W. B., & Katz-Jaffe, M. (2009) · Fertility and Sterility · doi:10.1016/j.fertnstert.2009.07.305 · Cited by 7 · see citing works
Increased embryo implantation and high birth rates following comprehensive chromosomal screening of in-vitro fertilized embryos
Wells, D., Fragouli, E., Alfarawaty, S., Schoolcraft, W. B., Munné, S., & Katz-Jaffe, M. G. (2009) · Reproductive BioMedicine Online · doi:10.1016/s1472-6483(10)61216-3 · Cited by 6 · see citing works
Oligonucleotide (ODN) fluorescence in situ hybridization (Oligo-FISH) and conventional FISH allow enumeration of 24 chromosomes in 6 successive hybridizations performed in a single day
Aurich‐Costa, J., Ng, C., Selvaggio, S., Colls, P., & Bradley, S. (2009) · Fertility and Sterility · doi:10.1016/j.fertnstert.2009.07.194 · Cited by 6 · see citing works
PREGNANCIES AND LIVE BIRTHS FOLLOWING BIOPSY AND PGD ANALYSIS OF HUMAN EMBRYOS AT THE BLASTOCYST STAGE
McArthur, S. J., & Leigh, D. A. (2005) · Cited by 5 · see citing works
Biopsy of Blastocyst
Carson, S. A. (1991) · Springer eBooks · doi:10.1007/978-1-4684-1351-9_9 · Cited by 4 · see citing works
The future of preimplantation genetic diagnosis
Kuliev, A., & Verlinsky, Y. (2006) · Expert Review of Obstetrics & Gynecology · doi:10.1586/17474108.1.1.65 · Cited by 4 · see citing works
The application of a molecular strategy using STR for routine PGD in both reciprocal and Robertsonian translocation carriers
Traversa, M., & Leigh, D. A. (2009) · Reproductive BioMedicine Online · doi:10.1016/s1472-6483(10)61217-5 · Cited by 4 · see citing works
Yury Verlinsky (01/09/1943–16/07/2009): pioneer in CVS, PGD and hESC
Edwards, R. G., Cohen, J., Gianaroli, L., Hughes, M., Kuliev, A., Rechitsky, S., Simpson, J. L., Trounson, A., Tur-Kaspa, I., & Verlinsky, O. (2009) · Reproductive BioMedicine Online · doi:10.1016/s1472-6483(10)60162-9 · Cited by 3 · see citing works
Self-citation
Comprehensive cytogenetic analysis of human blastocysts
Fragouli, E., Katz-Jaffe, M. G., Schoolcraft, W. B., Munné, S., & Wells, D. (2009) · Reproductive BioMedicine Online · doi:10.1016/s1472-6483(10)61215-1 · Cited by 1 · see citing works
Seven years of experience on preimplantation HLA typing
Ekmekçi, C. G., Beyazyurek, C., Tac, H. A., Ajradin, N., Verlinsky, O., Fiorentino, F., Karagozoglu, H., Karlikaya, G., & Kahraman, S. (2009) · Reproductive BioMedicine Online · doi:10.1016/s1472-6483(10)61219-9 · Cited by 1 · see citing works

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Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers
van der Post, R. S., Vogelaar, I. P., Carneiro, F., Guilford, P., Huntsman, D. D., Hoogerbrugge, N., Caldas, C., Schreiber, K. E. C., Hardwick, R. H., Ausems, M. G. E. M., et al. (2015) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2015-103094 · Cited by 567 · see citing works
Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management
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DNA confinement in nanochannels: physics and biological applications
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Chromosomal disorders and male infertility
Harton, G., & Tempest, H. G. (2011) · Asian Journal of Andrology · doi:10.1038/aja.2011.66 · Cited by 191 · see citing works
Prenatal and pre-implantation genetic diagnosis
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CDH1 (E-Cadherin) Mutation and Gastric Cancer: Genetics, Molecular Mechanisms and Guidelines for Management
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Concurrent Whole-Genome Haplotyping and Copy-Number Profiling of Single Cells
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Assisted Reproductive Technology in Europe: Usage and Regulation in the Context of Cross-Border Reproductive Care
Präg, P., & Mills, M. C. (2017) · Demographic research monographs · doi:10.1007/978-3-319-44667-7_14 · Cited by 127 · see citing works
Outcomes of in vitro fertilization with preimplantation genetic diagnosis: an analysis of the United States Assisted Reproductive Technology Surveillance Data, 2011–2012
Chang, J., Boulet, S. L., Jeng, G. T., Flowers, L. M., & Kissin, D. M. (2015) · Fertility and Sterility · doi:10.1016/j.fertnstert.2015.10.018 · Cited by 112 · see citing works
Assisted Reproductive Techniques
Huang, J. Y. J., & Rosenwaks, Z. (2014) · Methods in molecular biology · doi:10.1007/978-1-4939-0659-8_8 · Cited by 102 · see citing works
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The decision-making process of genetically at-risk couples considering preimplantation genetic diagnosis: Initial findings from a grounded theory study
Hershberger, P. E., Gallo, A. M., Kavanaugh, K. L., Olshansky, E. F., Schwartz, A., & Tur-Kaspa, I. (2012) · Social Science & Medicine · doi:10.1016/j.socscimed.2012.02.003 · Cited by 66 · see citing works
Molecular analysis of DNA in blastocoele fluid using next-generation sequencing
Zhang, Y., Li, N., Wang, L., Sun, H., Ma, M., Wang, H., Xu, X., Zhang, W., Liu, Y., Cram, D. S., et al. (2016) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-016-0667-7 · Cited by 60 · see citing works
Fluorescence In Situ Hybridization (FISH)
Wolff, D. J. (2012) · Springer eBooks · doi:10.1007/978-1-4419-1688-4_17 · Cited by 58 · see citing works
High-risk consumersʼ perceptions of preimplantation genetic diagnosis for hereditary cancers: A systematic review and meta-analysis
Quinn, G. P., Pal, T., Murphy, D., Vadaparampil, S. T., & Kumar, A. (2011) · Genetics in Medicine · doi:10.1038/gim.0b013e31822ddc7e · Cited by 55 · see citing works
Preimplantation genetic diagnosis (PGD) and genetic testing for aneuploidy (PGT-A): status and future challenges
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Invasive procedures for prenatal diagnosis: Any future left?
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Preimplantation genetic diagnosis guided by single-cell genomics
der Aa, N. V., Esteki, M. Z., Vermeesch, J. R., & Voet, T. (2013) · Genome Medicine · doi:10.1186/gm475 · Cited by 51 · see citing works
A Qualitative Inquiry of the Financial Concerns of Couples Opting to Use Preimplantation Genetic Diagnosis to Prevent the Transmission of Known Genetic Disorders
Drazba, K. T., Kelley, M. A., & Hershberger, P. E. (2013) · Journal of Genetic Counseling · doi:10.1007/s10897-013-9638-7 · Cited by 48 · see citing works
Recent advances in preimplantation genetic diagnosis and screening
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In vitro fertilisation treatment and factors affecting success
Huang, J. Y. J., & Rosenwaks, Z. (2012) · Best Practice & Research Clinical Obstetrics & Gynaecology · doi:10.1016/j.bpobgyn.2012.08.017 · Cited by 44 · see citing works
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Tsuchiya, K. D. (2011) · Clinics in Laboratory Medicine · doi:10.1016/j.cll.2011.08.011 · Cited by 43 · see citing works
SNP array-based copy number and genotype analyses for preimplantation genetic diagnosis of human unbalanced translocations
van Uum, C. M. J., Stevens, S. J. C., Dreesen, J. C. F. M., Drüsedau, M., Smeets, H. J. M., Hollanders-Crombach, B. H. T. M., de Die-Smulders, C. E. M., Geraedts, J. P. M., Engelen, J. J. M., & Coonen, E. (2012) · European Journal of Human Genetics · doi:10.1038/ejhg.2012.27 · Cited by 40 · see citing works
Biopsy of Human Morula-Stage Embryos: Outcome of 215 IVF/ICSI Cycles with PGS
Zakharova, E. E., Zaletova, V., & Krivokharchenko, A. S. (2014) · PLoS ONE · doi:10.1371/journal.pone.0106433 · Cited by 40 · see citing works
Chromosome microarrays in human reproduction
Rajcan‐Separovic, E. (2012) · Human Reproduction Update · doi:10.1093/humupd/dms023 · Cited by 39 · see citing works
100 years lynch syndrome: what have we learned about psychosocial issues?
Bleiker, E. M. A., Esplen, M. J., Meiser, B., Petersen, H. V., & Patenaude, A. F. (2013) · Familial Cancer · doi:10.1007/s10689-013-9653-8 · Cited by 38 · see citing works
Aberrant Epigenetic Modification in Murine Brain Tissues of Offspring from Preimplantation Genetic Diagnosis Blastomere Biopsies1
Zhao, H., Zhao, Y., Li, M., Yan, J., Li, L., Li, R., Liu, P., Yu, Y., & Qiao, J. (2013) · Biology of Reproduction · doi:10.1095/biolreprod.113.109926 · Cited by 37 · see citing works
Whole genome prediction for preimplantation genetic diagnosis
Kumar, A., Ryan, A., Kitzman, J. O., Wemmer, N., Snyder, M. W., Sigurjonsson, S., Lee, C., Banjevic, M., Zarutskie, P. W., Lewis, A. P., et al. (2015) · Genome Medicine · doi:10.1186/s13073-015-0160-4 · Cited by 35 · see citing works
The Gynecologist Has a Unique Role in Providing Oncofertility Care to Young Cancer Patients.
Duncan, F. E., Jozefik, J. K., Kim, A. M., Hirshfeld‐Cytron, J., & Woodruff, T. K. (2011) · PubMed · Cited by 31 · see citing works
The evidence base regarding the experiences of and attitudes to preimplantation genetic diagnosis in prospective parents
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An update of preimplantation genetic diagnosis in gene diseases, chromosomal translocation, and aneuploidy screening
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Human amniotic fluid stem cells as a model for functional studies of genes involved in human genetic diseases or oncogenesis
Rosner, M., Dolznig, H., Schipany, K., Mikula, M., Brandau, O., & Hengstschläger, M. (2011) · OncoTarget · doi:10.18632/oncotarget.328 · Cited by 30 · see citing works
Successful PGD for late infantile neuronal ceroid lipofuscinosis achieved by combined chromosome and TPP1 gene analysis
Shen, J., Cram, D. S., Wu, W., Cai, L., Yang, X., Sun, X., Cui, Y., & Liu, J. (2013) · Reproductive BioMedicine Online · doi:10.1016/j.rbmo.2013.04.011 · Cited by 27 · see citing works
Clinical Management of in Vitro Fertilization with Preimplantation Genetic Diagnosis
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Current methods for preimplantation genetic diagnosis
Liss, J., Chromik, I., Szczyglińska, J., Jagiełło, M., Łukaszuk, A., & Łukaszuk, K. (2016) · Ginekologia Polska · doi:10.5603/gp.2016.0037 · Cited by 25 · see citing works
Prenatal diagnosis and preimplantation genetic diagnosis: novel technologies and state of the art of PGD in different regions of the world
Peyvandi, F., Garagiola, I., & Mortarino, M. (2011) · Haemophilia · doi:10.1111/j.1365-2516.2011.02559.x · Cited by 24 · see citing works
Congenital Adrenal Hyperplasia Owing to 21-Hydroxylase Deficiency
New, M. I., Lekarev, O., Mancenido, D., Parsa, A. A., & Yuen, T. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-416006-4.00003-x · Cited by 24 · see citing works
Cell-free fetal DNA and maternal serum analytes for monitoring embryonic and fetal status
Simpson, J. L. (2013) · Fertility and Sterility · doi:10.1016/j.fertnstert.2013.02.012 · Cited by 23 · see citing works
Self-citation
A feasible strategy of preimplantation genetic diagnosis for carriers with chromosomal translocation: Using blastocyst biopsy and array comparative genomic hybridization
Huang, C.-C., Chang, L.-J., Tsai, Y.-Y., Hung, C., Fang, M., Su, Y., Chen, H., & Chen, S. (2013) · Journal of the Formosan Medical Association · doi:10.1016/j.jfma.2013.02.010 · Cited by 22 · see citing works
Preimplantation genetic diagnosis (PGD) – prevention of the birth of children affected with endocrine diseases
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Preimplantation diagnosis and other modern methods for prenatal diagnosis
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Genetics and bioethics: How our thinking has changed since 1969
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Advances in preimplantation genetic diagnosis/screening
Yan, L., Wei, Y., Huang, J., Zhu, X., Shi, X., Xia, X., Yan, J., Lu, C., Lian, Y., Li, R., et al. (2014) · Science China Life Sciences · doi:10.1007/s11427-014-4683-5 · Cited by 18 · see citing works
Preimplantation genetic testing for structural rearrangement based on low-coverage next-generation sequencing accurately discriminates between normal and carrier embryos for patients with translocations
Zhai, F., Wang, Y., Li, H., Wang, Y., Zhu, X., Kuo, Y., Guan, S., Li, J., Shi, S. X., He, Q., et al. (2022) · Reproductive BioMedicine Online · doi:10.1016/j.rbmo.2022.05.012 · Cited by 18 · see citing works
Role of Preimplantation Genetic Diagnosis (PGD) in Current Infertility Practice
Tempest, H. G., & Simpson, J. L. (2010) · International Journal of Infertility & Fetal Medicine · doi:10.5005/jp-journals-10016-1001 · Cited by 15 · see citing works
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Authors: Simpson, J. L.
Affiliations: Florida International University (US)
Corresponding author: Simpson, Joe Leigh
ORCID: Simpson, Joe Leigh
Venue: Prenatal Diagnosis
Publisher: Wiley
Published: 2010-06-22
Volume: 30
Issue: 7
Pages: 682-695
ISSN: 0197-3851 (ISSN-L)
1097-0223
DOI: 10.1002/pd.2552
OpenAlex: W1981520497
Cited by: 117
References: 130
Citations by year: 2024: 2 · 2023: 6 · 2022: 2 · 2021: 3 · 2020: 4 · 2019: 5 · 2018: 7 · 2017: 6 · 2016: 10 · 2015: 6 · 2014: 9 · 2013: 19 · 2012: 22
FWCI: 2.69
Type: journal article
Language: en
Open access: closed
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor)
Locations: Prenatal Diagnosis (publishedVersion)
PubMed (publishedVersion)
Topics: Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Assisted Reproductive Technology and Twin Pregnancy
Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Medical and Health Sciences Research
Keywords: preimplantation genetic diagnosis, blastomere biopsy, trophectoderm biopsy, aneuploidy detection, translocation detection, embryo cryopreservation, monogenic disorders, HLA matching, umbilical cord blood stem cells
MeSH terms: Blastomeres, Chromosome Aberrations, DNA, Female, Humans, Pregnancy, In Situ Hybridization, Fluorescence, Preimplantation Diagnosis

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Preimplantation genetic diagnosis at 20 years

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