Skip to main content Accessibility help
Hostname: page-component-77c89778f8-9q27g Total loading time: 0 Render date: 2024-07-20T03:56:02.865Z Has data issue: false hasContentIssue false

65 - PGD for Chromosomal Anomalies


Published online by Cambridge University Press:  04 August 2010

Botros R. M. B. Rizk
University of South Alabama
Juan A. Garcia-Velasco
Rey Juan Carlos University School of Medicine,
Hassan N. Sallam
University of Alexandria School of Medicine
Antonis Makrigiannakis
University of Crete
Get access



Human reproduction is a very complex process where failure is a frequent phenomenon. In contrast to many other mammals, whose rates of conception per reproductive cycle can reach 80 percent or more, human fertility seem to be relatively poor (1). In normal couples of proven fertility, the average chance of conceiving in each ovulatory cycle is only 20–25 percent and the peak rate is never higher than 33–35 percent (young women in the first three months of trying). The process can “occasionally” fail at different level: gamete's competence, egg uptake, oocyte and sperm passage along the tubes, fertilization, early embryo cleavage and its transport to the uterus, uterine receptivity, and blastocyst implantation. Human fecundity is also influenced by spontaneous abortion: approximately 15 percent of all established pregnancies end in abortion, with a lower risk (8–11 percent) in women younger than thirty years.

No data are available regarding the in vivo frequency of each step failure before implantation.

On the contrary, in the in vitro system, the first steps are controlled (and or bypassed) and embryos are known to reach the uterine cavity. Nevertheless, four to five early embryos or two to three blastocysts are needed for each baby born. In addition, although the efficiency of ART has significantly improved during the years in terms of total live birth rate, comparison with historical data suggest that the efficiency of oocyte utilization did not show similar improvement (2).

Publisher: Cambridge University Press
Print publication year: 2008

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)


Menken, J, Trussel, J, Larsen, U. Age and infertility. Science 1986; 233:1389–94.CrossRefGoogle ScholarPubMed
Inge, GB, Brinsden, PR, Elder, KT. Oocyte number per live birth in IVF: were Steptoe and Edwards less wasteful?Hum Reprod 2005; 20:588–92.CrossRefGoogle ScholarPubMed
Baird, DT, Collins, J, Egozcue, , et al. Fertility and ageing (Eshre Capri Workshop Group). Hum Reprod Update 2005; 11:261–76.Google Scholar
Eiben, B, Bartels, I, Bahr-Porsch, S, et al. Cytogenetic analysis of 750 spontaneous abortions with the direct-preparation method of chorionic villi and its implications for studying genetic causes of pregnancy wastage. Am J Hum Genet 1990; 47:656–63.Google ScholarPubMed
Handyside, AH, Kontoganni, E, Hardy, K, Winston, R., Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature 1990; 344:768–70.CrossRefGoogle ScholarPubMed
Griffin, DK, Wilton, LJ, Handyside, AH, Winston, RMK, Delhanty, JDA. Dual fluorescent in situ hybridisation for simultaneous detection of X and Y chromosome-specific probes for the sexing of human preimplantation embryonic nuclei. Hum Genet 1992; 89:18–22.CrossRefGoogle Scholar
Munné, S, Lee, A, Rosenwaks, Z, Grifo, J, Cohen, J., Diagnosis of major chromosome aneuploidies in human preimplantation embryos. Hum Reprod 1993; 8:2185–91.CrossRefGoogle ScholarPubMed
The Practice Committee of the American Society for Reproductive Medicine and the Practice Committee of the Society for Assisted Reproductive Technology. Preimplantation genetic diagnosis. Fertil Steril 2006; 86 (Suppl. 4):257–8.
Harper, JC, Boelaert, K, Geraedts, J, et al. ESHRE PGD Consortium data collection V: cycles from January to December 2002 with pregnancy follow-up to October 2003. Hum Reprod 2006; 21:3–21.
Gianaroli, L, Magli, MC, Fiorentino, F, Baldi, M, Ferraretti, AP. Clinical value of preimplantation genetic diagnosis. Placenta 2003; 24:77–83.CrossRefGoogle ScholarPubMed
Benagiani, G, Gianaroli, L. The new Italian IVF legislation. RBM Online 2004; 9:117–25.Google Scholar
Verlinsky, Y, Cieslkak, J, Ivanhnenko, V, et al. Prevention of age-related aneuploidies by polar body testing of oocytes. J Assist Reprod Genet 1999; 16:165–9.CrossRefGoogle ScholarPubMed
Pellestor, F, Anahory, T, Hamamah, S. The chromosomal analysis of human oocytes. An overview of established procedures. Hum Reprod 2005; 11:15–32.Google ScholarPubMed
Gianaroli, L, Magli, MC, Cavallini, G, et al. Frequency of aneuploidy in spermatozoa from patients with extremely severe male factor infertility. Hum Reprod 2005; 20:2140–52.CrossRefGoogle ScholarPubMed
Gianaroli, L, Magli, C, Ferraretti, AP, Munné, S. Preimplantation diagnosis for aneuploidies in patients undergoing in vitro fertilization with a poor prognosis: identification of the categories for which it should be proposed. Fertil Steril 1999; 72:837–44.CrossRefGoogle ScholarPubMed
Magli, MC, Ferraretti, AP, Crippa, A, Lappi, M, Feliciani, E, Gianaroli, L. First meiosis errors in immature oocytes generated by stimulated cycles. Fertil Steril 2006; 86:629–35.CrossRefGoogle ScholarPubMed
Gianaroli, L, Magli, MC, Ferraretti, AP. Sperm and blastomere aneuploidy detection in reproductive genetics and medicine. J Histochem Cytochem 2005; 53:261–8.CrossRefGoogle Scholar
Sandalinas, M, Sadowy, S, Alikani, M, Calderon, G, Cohen, J, Munné, S. Developmental ability of chromosomally abnormal human embryos to develop to the blastocyst stage. Hum Reprod 2001; 16:1954–8.CrossRefGoogle ScholarPubMed
Bielanska, M, Tan, SL, Ao, A. chromosomal mosaicism throughout human preimplantation development in vitro: incidence, type, and relevance to embryo outcome. Hum Reprod 2002; 17:413–19.CrossRefGoogle ScholarPubMed
Veiga, A, Gil, Y, Boada, M, et al. Confirmation of diagnosis in preimplantation genetic diagnosis (PGD) through blastocyst culture: preliminary experience. Prenat Diagn 1999; 19:1242–7.3.0.CO;2-P>CrossRefGoogle ScholarPubMed
Clouston, HJ, Herbert, M, Fenwick, J, Murdoch, AP, Wolstenholme, J. Cytogenetic analysis of human blastocysts. Prenat Diagn 2002; 22:1143–52.CrossRefGoogle ScholarPubMed
Magli, MC, Jones, GM, Gras, L, Gianaroli, L, Korman, I, Trounson, AO. Chromosome mosaicism in day-3 aneuploid embryos that develop to morphologically normal blastocysts in vitro. Hum Reprod 2000; 15:1781–6.CrossRefGoogle ScholarPubMed
Nicolaidis, P, Peterson, MB. Origin and mechanisms of non-disjunction in human autosomas trisomies. Hum Reprod 1998; 13:313–19.CrossRefGoogle Scholar
Hassold, T, Chiu, D. Maternal-age specific rates of numerical chromosome abnormalities with special reference to trisomy. Hum Genet 1995; 70:11–17.CrossRefGoogle Scholar
Plachot, M. Genetic analysis of oocyte – a review. Placenta 24 (Suppl. B) 2003;S66–9.Google Scholar
Daguet, F. Un siecle de feconditè francaise: 1901–1999. INSEE, Paris 2002.Google Scholar
Adamson, GD, Mouzon, J, Lancaster, P, Nygren, K-G, Sullivan, E, Zegers-Hochschild, F. World collaborative report on in vitro fertilization, 2000. Fertil Steril 2006; 85:1586–622.CrossRefGoogle ScholarPubMed
Munnè, S, Sandalina, M, Escudero, T, Fung, J, Gianaroli, L, Cohen, J, Outcome of preimplantation genetic diagnosis of translocations. Fertil Steril 2000; 73:1209–18.CrossRefGoogle ScholarPubMed
Gianaroli, L, Magli, MC, Ferraretti, AP, et al. Possible interchromosomal effect in embryos generated by gametes from translocation carriers. Hum Reprod 2002; 17:3201–7.CrossRefGoogle ScholarPubMed
Tarlatzis, BC. Clinical management of low ovarian response to stimulation for IVF: a systematic review. Hum Reprod 2003; 9:61–76.Google ScholarPubMed
Sharma, V, Allagar, V, Rajkhowa, M. Factors influencing the cumulative conception rate and discontinuation of in vitro fertilization treatment for infertility. Fertil Steril 2002; 78:40–6.CrossRefGoogle ScholarPubMed
Gianaroli, L, Magli, MC, Ferraretti, AP, et al. Gonadal activity and chromosomal constitution of in vitro generated embryos. Mol Cell Endocrinol 2000; 161:111–16.CrossRefGoogle ScholarPubMed
Ferraretti, AP, Magli, MC, Kopcow, L, Gianaroli, L. Prognostic role of preimplantation genetic diagnosis for aneuploidy in assisted reproduction technology outcome. Hum Reprod 2004; 19:694–9.CrossRefGoogle ScholarPubMed
Sloter, ED, Lowe, X, Moore, DH II, Nath, J, Wyrobek, AJ. Multicolor FISH analysis of chromosomal breaks, duplications, deletions, and numerical abnormalities in the sperm of healthy men. Am J Hum Genet 2000; 67:862–72.CrossRefGoogle ScholarPubMed
McInnes, M, Rademarker, AW, Martin, RH. Donor age and the frequency of disomy for chromosomes 1, 13, 21 and structural abnormalities in human spermatozoa using multicolour fluorescence in-situ hybridization. Hum Reprod 1998; 13:2489–94.CrossRefGoogle ScholarPubMed
Kühnert, B, Nieschlag, E. Reproductive functions of the ageing male. Hum Reprod Update 2004; 10:327–39.CrossRefGoogle ScholarPubMed
Egozcue, S, Blanco, J, Anton, E, Egozcue, S, Serrate, Z, Vidal, F. Genetic analysis of sperm and implications of severe male infertility – a review. Placenta 2003; 24:62S–5.CrossRefGoogle ScholarPubMed
Magli, MC, Gianaroli, L, Ferraretti, AP, Lappi, M, Ruberti, A, Farfalli, V. Embryo morphology and development is dependent on the chromosomal complement. Fertil Steril 2007; in press.CrossRefGoogle ScholarPubMed
Munné, S. Chromosome abnormalities and their relationship to morphology and development of human embryos. RBM Online 2006; 12:234–53.Google ScholarPubMed
Scott, L, Alvero, R, Leondires, M, Bradley, M. The morphology of human pronuclear embryos is positively related to blastocyst development and implantation. Hum Reprod 2000; 15:2394–403.CrossRefGoogle ScholarPubMed
Gianaroli, L, Magli Mc, Ferraretti, AP, Lappi M, Borghi E, Ermini B. Oocyte euploidy, pronuclear zygote morphology and embryo chromosomal complement. Hum Reprod 2007; in press.CrossRefGoogle ScholarPubMed
Munné, S, Chen, S, Fischer, J, et al. Preimplantation genetic diagnosis reduces pregnancy loss in women 35 and older with a history of recurrent miscarriages. Fertil Steril 2005; 84:331–5.CrossRefGoogle ScholarPubMed
Munné, S, Magli, C, Cohen, J, et al. Positive outcome after preimplantation diagnosis of aneuploidy in human embryos. Hum Reprod 1999; 14:2191–9.CrossRefGoogle ScholarPubMed
Gianaroli, L, Magli, MC, Munné, S, Fortini, D, Ferraretti, AP. Advantages of day 4 embryo transfer in patients undergoing preimplantation genetic diagnosis of aneuploidy. J Assist Reprod Genet 1999; 16:170–5.CrossRefGoogle ScholarPubMed
Munné, S, Sandalinas, M, Escudero, T, et al. Improved implantation after preimplantation genetic diagnosis of aneuploidy. RBM Online 2003; 7:91–7.Google ScholarPubMed
Platteau, P, Staessen, C, Michiels, A, Steirteghem, A, Liebaers, I, Devroey, P., Preimplantation genetic diagnosis for aneuploidy screening in patients with unexplained recurrent miscarriages. Fertil Steril 2005; 83:393–7.CrossRefGoogle ScholarPubMed
Staessen, C, Platteau, P, Assche, E, et al. Comparison of blastocyst transfer with or without preimplantation genetic diagnosis for aneuploidy screening in couples with advanced maternal age: a prospective randomized controlled trial. Hum Reprod 2004; 19:2849–58.CrossRefGoogle ScholarPubMed
Robertson, JA. Extending preimplantation genetic diagnosis: the ethical debate. Ethical issues in new uses of preimplantation genetic diagnosis. Hum Reprod 2003; 18:465–71.CrossRefGoogle ScholarPubMed
Verlinsky, Y, Kuliev, AM (Eds.). Preimplantation diagnosis of genetic diseases: a new technique in assisted reproduction. New York: Wiley-Liss, 1993.Google Scholar
Hardy, K, Martin, KL, Leese, HJ, Winston, RML, Handyside, AH. Human preimplantation development in vitro is not adversely affected by biopsy at the 8-cell stage. Hum Reprod 1990; 5:708–14.CrossRefGoogle Scholar
Tarin, JJ, Conaghan, J, Winston, RML, Handyside, AH. Human embryo biopsy on the 2nd day after insemination for preimplantation diagnosis: removal of a quarter of embryo retards cleavage. Fertil Steril 1992; 58:970–6.CrossRefGoogle ScholarPubMed
Gianaroli, L, Magli, MC, Ferraretti, AP. The in vivo and in vitro efficiency and efficacy of PGD for aneuploidy. Mol Cell Endocrinol 2001; 183:13–18.CrossRefGoogle ScholarPubMed
Shenfield, F, Pennings, G, Devroey, P, et al. ESHRE Ethics Task Force 5: preimplantation genetic diagnosis. Hum Reprod 2003; 18:649–51.CrossRefGoogle ScholarPubMed
Munné, S, Sandalinas, M, Escudero, T, Marquez, C, Cohen, J. Chromosome mosaicism in cleavage stage human embryos: evidence of a maternal age effect. RBM Online 2002; 4:223–32.Google ScholarPubMed
Evsikov, S, Verlinsky, Y. Mosaicism in the inner cell mass of human blastocysts. Hum Reprod 1998; 11:3151–55.CrossRefGoogle Scholar
Yaron, Y, Orr-Urtreger, A. New genetic principles. Clin Obstet Gynaecol 2002; 45:593–604.CrossRefGoogle ScholarPubMed
Bernardini, L, Gianaroli, L, Fortini, D, et al. Frequency of hyper-, hypohaploid and diploidy in ejaculate, epididymal and testicular germ cells of infertile patients. Hum Reprod 2000; 15:2165–72.CrossRefGoogle Scholar
Brigham, SA, Colon, C, Farquharson, RG. A longitudinal study of pregnancy outcome following idiopathic recurrent miscarriage. Hum Reprod 1999; 14:2868–71.CrossRefGoogle ScholarPubMed
Munné, S, Fischer, J, Warner, A, Chen, S, Zouves, C, Cohen, J, and referring centers PGD group. Preimplantation genetic diagnosis significantly reduces pregnancy loss in infertile couples: A Multi-Center Study. Fertil Steril 2006; 85:326–332.CrossRefGoogle Scholar
Ogasawara, M, Suzumori, K. Can implantation genetic diagnosis improve success rates in recurrent aborters with translocations?Hum Reprod 2005; 20:3267–70.CrossRefGoogle Scholar
Shahine, LK, Cedars, MI. Preimplantation genetic diagnosis does not increase pregnancy rates in patients at risk for aneuploidy. Fertil Steril 2006; 85:51–6.CrossRefGoogle Scholar
Infertility therapy-associated multiple pregnancies (births): an ongoing epidemic. Proceeding of an expert meeting in New York, USA. April 12–13 2003. RBM Online 7 (Suppl. 2).
World Health Organization. Current Practises and Controversies in Assisted Reproduction, Report of a Meeting on Medical, Ethical and Social Aspects of Assisted Reproduction held ad WHO Headquarters in Geneva, Switzerland, 17–21 September 2001. Vayena E, Rowe PJ, Griffin PD (Eds.), 2002.
Azem, F, Yaron, Y, Amit, A, et al. Transfer of six or more embryos improves success rates in patients with repeated in vitro fertilization failures. Fertil Steril 1995; 63:1043–6.CrossRefGoogle ScholarPubMed
Verlinsky, Y, Cohen, J, Munnè, S, Gianaroli, L, et al. Over a decade of experience with preimplantation genetic diagnosis: a multicenter report. Fertil Steril 2004; 82:292–4.CrossRefGoogle Scholar
Donoso, P, Staessen, C, Fauser, BCJM, et al. Current value of preimplantation genetic aneuplody screening in IVF. Hum Reprod Update 2007; 13:15–25.CrossRefGoogle Scholar

Save book to Kindle

To save this book to your Kindle, first ensure is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the or variations. ‘’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats