Experts in Preimplantation Genetic Diagnosis

Reprogenetics is the leader in PGD. We excel because of our extensive experience, original research, unique and diversified background of staff, the ability to provide training, availability of expert advice and access to staff 365 days a year. Reprogenetics is also a market leader in terms of streamlining procedures and determining optimal indications.

Embryo Testing

Complete 24 Chromosome Analysis

Comprehensive aneuploidy screening is available to offer to patients pursuing preimplantation genetic screening (PGS). Array CGH (aCGH) allows Reprogenetics to screen all chromosomes in 24-36 hours of sample receipt.

aCGH is an advanced genetic test that must be used in conjunction with in vitro fertilization (IVF) as removal of a cell(s) from an oocyte or embryo is required to perform the analysis. Once the cells are removed they are individually identified, loaded into tubes and sent to Reprogenetics for testing.

The microarray is a treated glass slide with the ability to individually screen multiple samples in a 24-36 hour period. Each samples is unique and the result of one sample is not dependent on the cohort.

Once the samples are received by Reprogenetics the DNA contained in the tubes is amplified and hybridized on a slide with fluorescently labeled control DNA. The resulting fluorescent ratios provide clear clinical diagnosis of copy number aberrations. This diagnosis may contribute to the success of the IVF procedure.

This new technology will enable Reprogenetics to improve screening for genetic defects and improve pregnancy outcome for all patients going through IVF by reducing spontaneous abortions and genetically affected conceptions. In the future we anticipate the ability to combine this technology with detection of other microdeletion syndromes. aCGH enables Reprogenetics to perform high throughput aneuploidy screening from a single cell.

Aneuploidy Screening

Prior to the availability of complete 24-chromosome screening, Fluorescent InSitu Hybridization (FISH) was considered the Gold Standard for aneuploidy screening.

Reprogenetics presently offers four tests using FISH:

  • 3 probe panel – X Y 21
  • 5 probe panel – X Y 13 18 21
  • 9 probe panel – X Y 13 15 16 17 18 21 22
  • 12 probe panel – X Y 8 13 14 15 16 17 18 20 21 22

These tests are based on the frequency of trisomies arriving to term (XY, 13,18,21), those that are common in spontaneous pregnancy losses (16,22,15,21) and those that are most commonly found in day 3 embryos (22,16,21,15,17).

In cases where results are ambiguous, Reprogenetics uses a technique called No Result Rescue (NRR) where telomeric probes are used to bind to a different locus and reanalyze the cells. This method allows for the discrimination between probe overlaps or split signals, and considerably reduces the error rate. Turnaround time for diagnosis is six to twelve hours from the time of sample arrival, depending on whether a third round with telomeric probes is needed. Reprogenetics can also accommodate requests for additional analysis of other chromosomes not covered in the standard test.

Translocation Testing

Reprogenetics’ scientists are responsible for the development of many of the current approaches to preimplantation diagnosis of translocations. Our team has the most extensive experience in the field with over 1000 cycles performed to date. Custom-made probes, involving three or more probes, are used to diagnose translocations and other chromosomal rearrangements. Diagnosis of translocations can be combined with aneuploidy screening, but the obtaining a result for the translocation is the priority. While FISH is still routinely used to diagnosis translocations, Reprogenetics scientific team is utilizing array technology to perform many translocation tests.

Single Gene Disorders and HLA

Reprogenetics offers PGD for any genetic disease with an identified mutation. Preparation for the test is necessary prior to starting a PGD cycle. In certain cases, it may be necessary to test blood and buccal cells from other family members. All tests must be scheduled in advance and coordinated through the Reprogenetics’ Clinical Genetics Services team.

Reprogenetics is approved by the NYSDOH to offer HLA matching. In HLA matching, embryos are screened for HLA-types compatible to those of an ill child from the patient couple. In cases such as lymphoma, where the child needing stem cell transplantation has an illness that is not caused by the inheritance of a defective gene, HLA-typing is the only testing necessary. However, if the illness is caused by a mutation passed from one generation to the next (parent to child), then an additional test can be performed. The only embryos transferred to the mother’s uterus will be those that are HLA compatible and free of the disease-causing mutation(s). Such embryos are expected to produce healthy stem cells with the correct tissue type for transplantation to their brother or sister.

Genetic Counseling

Reprogenetics has a staff of genetic counselors with specific expertise in PGD to serve the needs of its clients. Although Reprogenetics assumes no obligation to advise you as to your legal requirements as to the provision of PGD test, PGD counseling is recommended for every patient undergoing PGD. For patient convenience, the consultations are conducted by telephone and include a discussion about how the test will be performed, what it will indicate and a review of the applicable Reprogenetics data. A letter will be sent to document such consultations. This service can be customized when necessary.

Biopsy Services

In order to ensure the best results, PGD cases can only be accepted after fixed samples have been evaluated by the Reprogenetics laboratory. If samples received are suboptimal, embryologists from client centers can be provided with supplementary fixation training in one of the facilities free of charge. Within two weeks notice, Reprogenetics can also place a trained embryologist in an IVF laboratory to perform biopsy and fixation. The cost associated with a consultant embryologist is $1500 per biopsy and fixation procedure plus travel expenses. To arrange a Reprogenetics trained embryologists specializing in biopsy services to come to your IVF Center please contact

Sperm Testing

Sperm testing content.

Products of Conception

Depending on maternal age, miscarriages occur in 10% – 40% of human pregnancies. More than 50% of these losses are due to chromosome abnormalities, therefore analysis of the chromosomes from the products of conception (POC) is indicated. Until now, conventional karyotyping was used to analyze POC specimens, however, this method requires tissue culture and up to 25% of these cultures fail to grow. Chromosomally abnormal samples, such as monosomies and double aneuploidies habitually fail to grow. Tissue culture of POC specimens is also prone to maternal cell contamination which leads to over-reporting of 46,XX (normal female) karyotypes. Analysis of maternal and fetal DNA using quantitative fluorescent polymerase chain reaction (QF-PCR) technology allows detection of maternal cell contamination as well as some forms of polyploidy. Comparative Genomic Hybridization (CGH) and array CGH have overcome many limitations of conventional testing and are considered a significant advance in POC analysis. Reprogenetics is now offering POC analysis by aCGH with QF-PCR, utilizing our vast clinical experience with CGH, array CGH and molecular genetics.

Advantages of Molecular Karyotyping for POC specimens:

  • Quick turn around time- Typically 24~72 hours after sample receipt
  • No need for tissue culture- 25% more specimens with results compared to conventional testing
  • More reliable results- Maternal cell contamination and poor growth not an issue for aCGH with QF-PCR
  • Fewer false negative results-more than 60% of specimens definitively diagnosed compared to about 50% with conventional karyotyping
  • Expected sex ratio of 50:50 confirmed (following elimination of maternal cell contamination)- this confirms that the test is operating as expected with very reliable results
  • 6MB resolution allows detection of micro-deletions and duplications- Not detectable by karyotyping
  • Well accepted by genetics experts as an alternative to karyotyping
  • Formalin-preserved samples can be analyzed- In most cases if specimen was recently prepared

Reprogenetics will apply any out of pocket cost to the patient of POC testing to a future PGD cycle.

At Reprogenetics, we believe in complete transparency concerning the efficacy of our tests and results. To that end, we make a point of publishing all clinical results, error rates, and technical advances. Our commitment to visibility and academic excellence contributes to our reputation as the leader in PGD.

Recent Publications

  • Colls P, Goodall N, Zheng X, Munné S (2009) Increased efficiency of preimplantation genetic diagnosis for aneuploidy by testing 12 chromosomes. Reprod Biomed Online 19:532-538
  • Colls P, Silver L, Olivera G, Weier J, Escudero T, Goodall N, Tomkin G, Munné S (2009)Preimplantation genetic diagnosis of gender selection in the united states. Reprod Biomed Online 19:16-22
  • Colls P, Silver L, Olivera G, Weier J, Escudero T, Goodall N, Tomkin G, Munné S (2010)Preimplantation genetic diagnosis of gender selection in the united states. Reprod Biomed Online In press
  • Ferraretti AP, Gianaroli L, Magli C, Farfalli V, Lappi M, Munné S (2008) PGD for chromosome anomalies. In: Infertility and Assisted Reproduction. Edited by: Rizk B, Garcia-Velasco J, Sallam H, Makrigiannakis A. chapter 65, pp. 643-656
  • Fischer J, Colls P, Escudero T, Munné S (2010) Preimplantation Genetic Diagnosis (PGD) improves pregnancy outcome for translocation carriers with a history of recurrent losses. Fertil Steril, 94:283–9
  • Fragouli E, Alfarawati S, Katz-Jaffe M, Stevens J, Colls P, Goodall N, Tormasi S, Gutierrez-Mateo C, Prates R, Schoolcraft WB, Munné M, Wells D (2010) Comprehensive chromosome screening of polar bodies and blastocysts from couples experiencing repeated implantation failure. Fertil Steril 94:875–87
  • Fragouli E, Escalona A, Gutierrez-Mateo C, Tormasi S, Alfarawati S, Sepulveda S, Noriega L4, Garcia J, Wells D, Munné S (2009) Comparative genomic hybridization of oocytes and first polar bodies from young donors. Reprod Biomed Online, 18: 228-237
  • Garrisi GJ, Colls P, Ferry KM, Zheng X, Garrisi MG, Munné S (2009) Effect of infertility, maternal age and number of previous miscarriages on the outcome of preimplantation genetic diagnosis for idiopathic recurrent pregnancy loss. Fertil Steril 92:288-295
  • Gutierrez C; Sánchez-García J; Fischer J; Tormasi S; Cohen J, Ph.D.; Munné S; Wells D (2009) Preimplantation genetic diagnosis (PGD) of single gene disorders: experience with over 200 cycles conducted by a reference laboratory in the United States. Fertil Steril 92:1544–56
  • Gutiérrez-Mateo C, Colls P, Sánchez-García J, Escudero T, Prates R, Wells D, Munné S (in press) Validation of microarray comparative genomic hybridization for comprehensive chromosome analysis of embryos. Fertil Steril in press
  • Lopez P, Munné S (2008) Eficiencia del diagnostico preimplantacional (DGP) en infertilidad. In: Fertilidad y Reproducción asistida. Lerner J, Urbina MT Eds. Sociedad de Obstetricia Y Ginecologia de Venezuela. Editorial Medica Panamericana, Venezuela. Pp 573-575 (ADD SPANISH FLAG BESIDES IT)
  • Magli MC, Gianaroli L, Crippa A, Munne S, Robles F, Ferraretti AP (2010) Aneuploidies of chromosomes 1, 4 and 6 are not compatible with human embryos’ implantation. Fertil Steril In press
  • McWeeney DT, Munné S, Miller R, Cekleniak NA, Contag SA, Wax JR, Polzin WJ, Watson WJ (2009) Pregnancy Complicated by Triploidy: A Comparison of the Three Karyotypes. Am J Perinatology 9:641-645
  • Munné S (2008) Improving pregnancy outcome for IVF patients with Preimplantation genetic screening. Expert Rev. OB Gyn 3:635-646
  • Munné S (2009) Preimplantation genetic diagnosis for infertility (PGS). In: Current Status of Preimplantation Genetic Diagnosis (PGD) Harper J (Ed). Cambridge University Press. Chapter 13, pp: 203-229
  • Munné S (2010) Overview of preimplantation genetic diagnosis. Expert Rev. Obstet. Gynecol. 5:403–408
  • Munné S, Fragouli E, Colls P, Katz M, Schoocraft W, Wells D (2010) Improved detection of aneuploid blastocysts using a new 12-chromosome FISH test. Reprod Biomed Online 20, 92– 97
  • Munné S, Fragouli E, Colls P, Katz M, Schoocraft W, Wells D (2010) An improved 12-chromosome FISH test could detect 91% of aneuploid blastocysts. Reprod Biomed Online 20, 92– 97
  • Munné S, Howles CM, Wells D (2009) The role of preimplantation genetic diagnosis in diagnosing embryo aneuploidy. Cur Op Ob Gyn 21:442-449
  • Munné S, Tomkin G, Cohen J (2009) Selection Of Embryos By Morphology Is Less Effective Compared To A Combination Of Aneuploidy Testing And Morphology Observations. Fertil Steril 91:943-945
  • Munné S, Wells D, Cohen J (2010) Technology requirements for preimplantation genetic diagnosis to improve art outcome. Fertil Steril 94:408–30
  • Schoolcraft WB, Fragouli E, Stevens J, Munné S, Katz-Jaffe MG, Wells D (2010) Clinical application of comprehensive chromosomal screening at the blastocyst stage. Fertil Steril, 94:1700–1706
  • Schoolcraft WB, Katz-Jaffe MG, Stevens J, Rawlins M, Munné S (2009) Preimplantation genetic diagnosis for aneuploidy screening: a randomized prospective trial. Fertil Steril 92:157-162
  • The Preimplantation Genetic Diagnosis International Society (PGDIS*) (2008)Guidelines for good practice in PGD: program requirements and laboratory quality assurance. Reproductive Biomed Online 16:134-147 (*Drs. Munné and Cohen are officers in that society and prepared this document)
  • Weghofer A, Munné S, Brannath W, Chen S, Barad D, Cohen J, Gleicher N (2009) The impact of LH-containing gonadotropin stimulation on
  • AbdelhadiI I, Colls P, Sandalinas M, Escudero T, Munné S. Preimplantation genetic diagnosis of numerical abnormalities for 13 chromosomes. Reprod Biomed online, 2003: 6:226-231
  • Bahçe M, Cohen J, Munné S (1999) PGD of aneuploidy: were we looking at the wrong chromosomes? J. Assisted Reprod Genet. 16: 176-181
  • Bahçe M, Escudero T, Sandalinas M, Morrison L, Legator M, Munné S (2000) Improvements of preimplantation diagnosis of aneuploidy by using microwave-hybridization, cell recycling and monocolor labeling of probes. Molec Human Reprod 9:849-854
  • Benadiva C, Kligman I, Grifo J, Munné S (1996) aneuploidy 16 in human embryos increases significantly with maternal age. Fertil. Steril. 66:248-255
  • Bermúdez MG, Wells D, Malter H, Munné S, Cohen J, Steuerwald NM (2004) Expression Profiles of Individual Human Oocytes using Microarray Technology. Reproductive Biomedicine Online 8:325-337
  • Cassel MJ, Munné S, Fung J, Weier HUG (1997) Carrier-specific breakpoint-spanning DNA probes: an approach to preimplantation genetic diagnosis in interphase cells. Human Reprod 2019-2027
  • Chen SH, Escudero T, Cekleniak NA, Sable DB, Garrisi MG, Cohen J, Munné S (2005) Maternal balanced translocation is a risk factor for poor response to ovarian stimulation. Fertil Steril 83:1504-1509
  • Cohen J, Grifo J (2007) Multicnetre trial of preimplantation genetic screening reported in the New England Journal of Medicine: an in depth look at the findings. Reproductive Biomed Online 15:365-366
  • Cohen J, Scott R, Alikani M. Schimmel T, Munné S, Levron J, Wu L, Brenner C, Warner C, Willadsen S (1998) Ooplasmic transfer in mature human oocytes. Molec Human Reprod 4: 269-280
  • Cohen J, Wells D, Munné S (2007) Removal of two cells from cleavage stage embryos is likely to reduce the efficacy of chromosomal tests employed to enhance implantation rates. Fertil Steril, 87:496-503
  • Colls P, Escudero T, Cekleniak N, Sadowy S, Cohen J, Munné S (2007) increased efficiency of preimplantation genetic diagnosis for infertility using “no result rescue”. Fertil Steril. 88:53-61
  • Colls P, Escudero T, Cekleniak N, Sadowy S, Cohen J, Munné S (2007) increased efficiency of preimplantation genetic diagnosis for infertility using “no result rescue”. Fertil Steril. 88:53-61
  • Colls P, Sandalinas M, Pagidas K, Munné S (2004) PGD analysis for aneuploidy in a patient heterozygous for a polymorphism of chromosome 16 (16qh-). Prenat Diagn 24:741-744
  • Dailey T, Dale B, Cohen J and Munné S (1996) Association between non-disjunction and maternal age in meiosis-II human oocytes detected by FISH analysis. Am.J.Hum.Genet, 59:176-184
  • Escudero T, Abdelhadi I, Sandalinas M, Munné S (2003) Predictive value of sperm chromosome analysis on the outcome of PGD for translocations. Fertil Steril 79: supl 3:1528-1534
  • Escudero T, Estop A, Fischer J, Munné S (2008) Preimplantation Genetic Diagnosis for complex chromosome rearrangements. Am J Medical Genetics 146a:1662-1669
  • Escudero T, Lee L, Carrel D, Blanco J, Munné S (2000) Analysis Of Chromosome Abnormalities In Sperm And Embryos From Two 45,XY,t(13;14)(q10;q10) Carriers. Prenat Diagn 20:599-602
  • Escudero T, Lee M, Stevens J, Sandalinas M, Munné S (2001) Preimplantation Genetic diagnosis of pericentric inversions. Prenatal Diagnosis 21:760-766
  • Escudero T, Lee Michael L, Sandalinas S, Munné S (2000) Female gamete segregation in two carriers of translocations involving 2q and 14q. Prenat Diagn, 20:235-237
  • Estop AM, Munné S, Cieply KM, Vandermark KK, Lamb AN, Fisch H (1998) Meiotic products of Klinefelter 47,XXY male as determined by sperm fluorescence in-situ hybridization analysis. Human Reprod. 13: 124-127
  • Gianaroli L, Magli MC, Ferraretti AP, Fiorentino A, garrisi J, Munné S (1997)Preimplantation genetic diagnosis increases the implantation rate in human in vitro fertilization by avoiding the transfer of chromosomally abnormal embryos. Fertil.Steril. 68:1128-1131
  • Gianaroli L, Magli MC, Ferraretti AP, Munné S (1999) Preimplantation diagnosis for aneuploidies in patients undergoing in vitro fertilization with poor prognosis: identification of the categories to which it should be proposed. Fertil. Steril. 72:837-844
  • Gianaroli L, Magli MC, Munné S, Fiorentino A, Montanaro N, Ferraretti AP (1997) Will preimplantation genetic diagnosis assist patients with a poor prognosis to achieve pregnancy? Hum Reprod 12:1762-1767
  • Gianaroli L, Magli MC, Munné S, Fortini D, Ferraretti AP (1999) Advantages of day four embryo transfer in patients undergoing preimplantation genetic diagnosis of aneuploidy. J. Assisted Reprod Genet 16:170-175
  • Gianaroli L, Munné S, Magli MC, Ferraretti AP (1997) Preimplantation genetic diagnosis of aneuploidy and male infertility. Int.J.Androl. 20:Suppl.3:31-34
  • Grifo JA, Tang YX, Munné S, Alikani M, Cohen J , Rosenwaks Z (1994) Healthy deliveries from biopsied human embryos. Hum.Reprod. 9:912-916
  • Gutiérrez CM, Wells D, Benet J, Sánchez-García JF, Bermúdez MG, Belil I, Egozcue J, Munné S, Navarro J (2004) Reliability of Comparative Genomic Hybridization to detect chromosome abnormalities in first polar bodies and metaphase II oocytes. Human Reprod 19:2118-2125
  • Gutiérrez-Mateo C, Benet J, Wells D, Colls P, Bermúdez MG, Sánchez-García JF, Egozcue J, Navarro J, Munné S (2004) Aneuploidy study of human oocytes first polar body comparative genomic hybridization and metaphase II fluorescence in situ hybridization analysis. Human Reprod 19:2859-2868
  • Gutiérrez-Mateo C, Gadea L, Benet J, Wells D, Munné S, Navarro J (2005) Aneuploidy 12 in a Robertsonian (13;14) carrier: Case Report. Human Reprod 20:1256-1260
  • Kligman I, Benadiva C, Alikani M, Munné S (1996) The presence of multinucleated blastomeres in human embryos correlates with chromosomal abnormalities. Human Reprod, 11:1492-1498.
  • Lee M, Munné S (2000) Pregnancy after polar body biopsy and freezing and thawing of human embryos. Fertil Steril 73:645-647
  • Magli MC, Gianaroli L, Ferraretti AP, Fortini D, Munné S (1999) Impact of blastomere biopsy and cryopreservation techniques on human embryo viability. Human Reprod. 14:770-773
  • Magli MC, Gianaroli L, Munné S, Ferraretti AP (1998) Incidence of chromosomal abnormalities from a morphologically normal cohort of embryos in poor-prognosis patients. J Assist Reprod Genet 15:297-301
  • Magli MC, Sandalinas M, Escudero T, Morrison L, Ferraretti AP, Gianaroli L, Munné S (2001) Double locus analysis of chromosome 21 for preimplantation genetic diagnosis of aneuploidy. Prenatal diagnosis 21:1080-1085
  • Márquez C, Cohen J, Munné S (1998) Chromosome identification on human oocytes and polar bodies by spectral karyotyping. Cytogenet Cell Genet 81:254-258
  • Márquez C, Sandalinas M, Bahçe M, Alikani M, Munné S (2000) Chromosome abnormalities in 1255 cleavage-stage human embryos. Reproductive Biomedicine Online 1:17-27
  • Munné S (2001) Preimplantation genetic diagnosis of Structural abnormalities. Molec Cell endocrinol 183: S55-S58
  • Munné S (2002) preimplantation genetic diagnosis of numerical and structural chromosome abnormalities. Reprod Biomed Online 4:183-196
  • Munné S (2003) Preimplantation Genetic Diagnosis and Human implantation – A review. Placenta 24: S70-76
  • Munné S (2005) Analysis of the segregation of chromosomes during preimplantation genetic diagnosis in both male and female translocation heterozygotes. Cytogenetics and Genomic Res 305-309
  • Munné S (2006) Chromosome abnormalities and their relationship to morphology and development of human embryos. Reproductive Biomedicine Online 12:234-253
  • Munné S and Cohen J (1998) Chromosome abnormalities in human embryos. Human Reprod Update. 4: 842-855
  • Munné S, Alikani M, Tomkin G, Grifo J, Cohen J (1995) Embryo morphology, developmental rates and maternal age are correlated with chromosome abnormalities. Fertil.Steril., 64:382-391
  • Munné S, Alonso ML, Grifo J (1996) case report: unusually high rates of aneuploid embryos in a 28-year old woman with incontinentia pigmenti. Cytogenet. Cell Genet., 72:43-45
  • Munné S, Ary J, Zouves C, Escudero T, Barnes F, Cinioglu C, Ary B, Cohen J (2006) Wide range of chromosome abnormalities in the embryos of young egg donors. Reproductive Biomed Online, 12:340-346
  • Munné S, Chen S, Fischer J, Colls P, Zheng X, Stevens J, Escudero T, Oter M, Schoolcraft W, Simpson JL, Cohen J (2005) Preimplantation genetic diagnosis reduces pregnancy loss in women 35 and older with a history of recurrent miscarriages. Fertil Steril 84:331-335
  • Munné S, Cohen J (2004) The status of Preimplantation Genetic Diagnosis in Japan: a criticism. Reprod Biomed Online 9:258-259
  • Munné S, Cohen J, Sable D (2002) Preimplantation Genetic Diagnosis for advanced maternal age and other indications. Fertil Steril 78:234-236
  • Munné S, Dailey T, Finkelstein M, Weier HUG (1996) Reduction in signal overlap results in increased FISH efficiency: implications for preimplantation genetic diagnosis. J. Assisted Reprod. Genet. 13:149-156.
  • Munné S, Dailey T, Sultan KM, Grifo J, Cohen J.(1995) The use of first polar bodies for preimplantation diagnosis of aneuploidy. Human Reprod. 10:1015-1021
  • Munné S, Escudero T, Fischer J, Chen S, Hill J, Stelling JR, Estop E (2005) Negligible interchromosomal effect in embryos of Robertsonian translocation carriers. Reprod Biomed Online 10:363-369
  • Munné S, Escudero T, Pere C, Xuezhong Z, Oter M, Garrisi M, Barnes F, Zouves C, Werlin L, Magli C, Cohen J (2004) Predictability of Preimplantation Genetic Diagnosis of Aneuploidy and Translocations on Prospective Attempts. Reprod Biomed Online 9:645-651
  • Munné S, Escudero T, Sandalinas M, Sable D, Cohen J (2000) Gamete segregation in female carriers of Robertsonian translocations. Cytogenet Cell Genet 90:303-308
  • Munné S, Fischer J, Warner A, Chen S, Zouves C, Cohen J, And referring centers PGD group (2006) Preimplantation Genetic Diagnosis Significantly Reduces Pregnancy Loss in Infertile Couples: A Multi-Center Study. Fertil Steril 85:326-332
  • Munné S, Fung J, Cassel MJ, Márquez C, Weier HUG (1998) Preimplantation Genetic Analysis of Translocations: Case-Specific Probes for Interphase Cell Analysis. Human Genet, 102:663-674
  • Munné S, Gianaroli L, Tur-Kaspa I, Magli C, Sandalinas M, Grifo J, Cram D, Kahraman S, Verlinsky Y, Simpson JL (2007) Sub-standard application of PGS may interfere with its clinical success. Fertil Steril 88:781-784
  • Munné S, Grifo J, Cohen J, Weier HUG (1994) Chromosome abnormalities in Arrested Human Preimplantation Embryos: A Multiple Probe Fluorescence In Situ Hybridization (FISH) Study. Am.J.Hum.Genet. 55,1:150-159.
  • Munné S, Lee A, Rosenwaks Z, Grifo J, Cohen J (1993) diagnosis of major chromosome aneuploidies in human preimplantation embryos. Hum Reprod 8:2185-2191
  • Munné S, Magli C, Adler A, Wright G, de Boer K, Mortimer D, Tucker M, Cohen J, Gianaroli L (1997) Treatment-related chromosome abnormalities in human embryos. Human Reprod, 12:780-784
  • Munné S, Magli C, Bahçe M, Fung J, Legator M, Morrison L, Cohen J, Gianaroli L (1998)Preimplantation diagnosis of the aneuploidies most commonly found in spontaneous abortions and live births: XY, 13, 14, 15, 16, 18, 21, 22. Prenat Diagn. 18:1459-1466
  • Munné S, Magli C, Cohen J, Morton P, Sadowy S, Gianaroli L, Tucker M, Márquez C, Sable D, Ferraretti AP, Massey JB, Scott R (1999) Positive outcome after preimplantation diagnosis of aneuploidy in human embryos. Human Reprod, 14:2191-2199
  • Munné S, Márquez C, Magli C, Morton P, Morrison (1998) Scoring criteria for preimplantation genetic diagnosis of numerical abnormalities for chromosomes X, Y, 13, 16, 18 and 21. Human Molec Reprod 9:863-870
  • Munné S, Márquez C, Reing A, Garrisi J, Alikani M (1998) Chromosome abnormalities in embryos obtained following conventional IVF and ICSI. Fertil Steril 69:904-908
  • Munné S, Morrison L, Fung J, Márquez C, Weier U, Bahçe M, Sable D, Grundfelt L, Schoolcraft, Scott R, Cohen J (1998). Spontaneous abortions are reduced after pre-conception diagnosis of translocations. J Assist Reprod Genet 290-296
  • Munné S, Sandalinas M, Alikani M, Cohen J (2004) Chromosome abnormalities in human embryos. In: Textbook of Assisted Reproductive Technology. Laboratory and Clinical Perspectives. David K Gardner, Weissman A, Howles CM, Shoham Z, Dunitz M Eds. Chapter 28
  • Munné S, Sandalinas M, Escudero T, Fung J, Gianaroli L, Cohen J (2000) Outcome of preimplantation genetic diagnosis of translocations. Fertil Steril. 73:1209-1218
  • Munné S, Sandalinas M, Escudero T, Marquez C, Cohen J (2002) Chromosome mosaicism in cleavage stage human embryos: evidence of a maternal age effect. Reprod Biomed Online 4:223-232
  • Munné S, Sandalinas M, Escudero T, Velilla E, Walmsley R, Sadowy S, Cohen J, Sable D (2003) Improved implantation after preimplantation genetic diagnosis of aneuploidy. Reprod Biomed Online, 7:91-97
  • Munné S, Sandalinas M, Magli M, Gianaroli L, Cohen J, Warburton D (2004) Increased rate of aneuploid embryos in young women with previous aneuploid conceptions. Prenat Diagn. 24:638-647
  • Munné S, Scott R, Sable D, Cohen J (1998) First pregnancies after pre-conception diagnosis of translocations of maternal origin. Fertil Steril 69:675-681
  • Munné S, Sepulveda S, Balmaceda J, Fernandez E, Fabres C, Mackenna A, Lopez T, Crosby JA, Zegers-Hochschild F (2000) Selection of the most common chromosome abnormalities in oocytes prior to ICSI. Prerat Diagn 20:582-586
  • Munné S, Serena C, Colls P, Garrisi J, Zheng X, Cekleniak N, Lenzi M, Hughes P2, Fischer J, Garrisi M, Tomkin G, Cohen J (2007) Maternal age, morphology, development and chromosome abnormalities in over 6000 cleavage-stage embryos. Reproductive Biomedicine Online 14:628-634
  • Munné S, Sultan KM, Weier HUG, Grifo J, Cohen J, Rosenwaks Z (1995) Assessment of numerical abnormalities of X, Y, 18 and 16-chromosomes in preimplantation human embryos prior transfer. Am. J. Obs. Gyn 172:1191-1201
  • Munné S, Velilla E, Colls P, Garcia-Bermudez M, Vemuri MC, Steuerwald N, Garrisi J, Cohen J (2005) Self correction of chromosomally abnormal embryos in culture and implications for stem cell production. Fertil Steril, 84:331-335
  • Munné S, Weier HUG, Grifo J, Cohen J (1994) Chromosome mosaicism in human embryos. Biol. Reprod. 51:373-379
  • Munné S, Weier, U (1996) Simultaneous enumeration of chromosomes 13, 18, 21, X and Y in interphase cells for preimplantation genetic diagnosis of aneuploidy. Cytogenet. Cell. Genet 75:263-270
  • Munné S, Wells D (2002) Preimplantation genetic diagnosis. Current Opinion Obstet Gynecol 14: 239-244
  • Munné, S. (2005) Preimplantation genetic diagnosis for chromosome abnormalities. In Jorde, L.B., Little, P.F.R., Dunn, M.J. and Subramaniam, S. (Eds), Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics. John Wiley & Sons Ltd: Chichester, volume , pp. 176.
  • Obasaju M, Kadam A, Biancardi T, Sultan K, Fateh M, Munné S (2001) Pregnancy rate from the transfer of a single normal embryo in women over 40 years of age undergoing PGD for chromosomal abnormalities. Reproductive Biomedicine Online 2:98-101
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Chromosomal Rearrangements

PGD for Chromosomal Rearrangements

Chromosomal rearrangements such as reciprocal/Robertsonian translocations and pericentric and paracentric inversions are well-recognized forms of genetic abnormality. Preimplantation genetic diagnosis can be used to detect chromosomal rearrangements in embryos with the aim of transferring only normal/balanced ones for the establishment of a healthy pregnancy. A large number of cases has been carried out since the first clinical application of PGD for chromosomal rearrangements. Different studies reporting on the outcome of PGD cases for translocation carriers have demonstrated an increase in the chances of sustaining a pregnancy to full term: 85% of pregnancies on average were lost before PGD, while only 0-25% miscarried after PGD. Furthermore, PGD reduces the time needed for carriers of structural chromosome abnormalities to achieve a sustained pregnancy. Studies have shown that patients undergoing PGD achieve pregnancy in an average of 1.2-1.4 IVF cycles (

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