Chromosome translocations in couples with in-vitro fertilization implantation failure
|
|
- Christian Howard
- 6 years ago
- Views:
Transcription
1 Human Reproduction vol.14 no.8 pp , 1999 Chromosome translocations in couples with in-vitro fertilization implantation failure C.Stern 1,4, M.Pertile 2, H.Norris 1, L.Hale 1 and H.W.G.Baker 3 1 Reproductive Biology Unit, 2 Department of Cytogenetics, 3 University Department of Obstetrics and Gynaecology, Royal Women s Hospital, Carlton, 3053, Australia 4 To whom correspondence should be addressed at: 3/320 Victoria Parade, East Melbourne 3002, Australia Recurrent miscarriage is known to be associated with parental chromosomal abnormalities, particularly balanced reciprocal and Robertsonian translocations. The aim of this study was to test the hypothesis that couples with invitro fertilization (IVF) implantation failure, like those with recurrent miscarriage, have a higher than expected prevalence of translocations which may impact on pregnancy outcome. Patients who previously had at least 10 embryos transferred without achieving clinical pregnancy were evaluated for chromosome abnormalities as part of screening investigations for implantation failure. Recurrent miscarriage patients with a history of at least three consecutive first-trimester abortions were also tested. Results were compared to reports of infertility patients presenting for treatment and population neonatal screening programmes. Chromosomal abnormalities overall were detected in 13/514 individuals with implantation failure (2.5%), and 15/319 individuals with recurrent miscarriage (4.7%). Translocations (reciprocal and Robertsonian) were found in 7/514 individuals (1.4%) and 7/219 couples (3.2%) with implantation failure (P < compared with infertile controls and P < compared with screened neonates). Translocations were found in 13/319 individuals (4.1%) and 12/130 couples (9.2%) with recurrent miscarriage. Balanced parental translocations may be implicated in the pathogenesis of IVF-implantation failure. Genetic evaluation should be considered as part of the investigation of these patients. Key words: chromosome/implantation failure/ivf/recurrent miscarriage/translocation Introduction Although in-vitro fertilization (IVF) has revolutionized the treatment of infertility, there are still many couples who have multiple transfers of good quality embryos without achieving successful implantation. Chromosomal abnormalities, particularly translocations, are known to be implicated in various forms of reproductive failure, ranging from defective gametogenesis (Crosignani and Rubin, 1982) to recurrent spontaneous mis- carriage (Campana et al., 1986). Although several groups have reported frequencies of chromosomal aberrations in infertile patients to be higher than those found in population screening studies (Chandley, 1983; Koulisher and Gillerot, 1985; Hens et al., 1988), with the exception of male factor infertility, chromosome analysis is not routinely performed for new patients presenting to infertility clinics. Chromosomal translocations involve the transfer of genetic material from one chromosome to another, and can be reciprocal, involving the breakage of two non-homologous chromosomes with exchange of segments, or Robertsonian, involving breakpoints close to the centromere of two acrocentric chromosomes. The importance of translocations relates to the pattern of segregation at meiosis. The patterns of inheritance are complex and depend on the particular chromosomes involved and the size of the rearrangements (Gardner and Sutherland, 1996). With developments in preimplantation genetic diagnosis to include testing for Robertsonian and reciprocal translocations (Cassel et al., 1997; Munné et al., 1998a,b), detection of these structural chromosomal anomalies in couples having IVF treatment becomes of great importance. We have postulated that the causes of IVF implantation failure and recurrent early pregnancy loss are the same (Stern et al., 1998) and thus some cases of persistent IVF-implantation failure may be associated with balanced parental autosomal translocations. To test this we have surveyed the karyotypes of patients with IVF-implantation failure and compared the results with those of patients with recurrent miscarriage as a positive control group and also published historical control populations of infertile patients and neonates. Materials and methods Approval was obtained from the Royal Women s Hospital Research and Ethics Committees prior to commencement of the trial. Patient groups Patients were recruited from the Royal Women s Hospital IVF and Recurrent Miscarriage Clinics and from the associated private IVF facility. All were counselled and gave their informed consent. Implantation failure (IF) group Couples who had previously had at least 10 embryos transferred (average 17, range 10 50) without achieving a clinical pregnancy were recruited. For the purpose of this study a clinical pregnancy was defined as a pregnancy diagnosed initially by biochemical means at 17 days after embryo transfer (serum βhcg 100 IU) with consequent evidence of gestational sac fetal heart observed on transvaginal ultrasound 28 days after embryo transfer. Results were available for 293 women (average age 36, range 24 47) and 221 European Society of Human Reproduction and Embryology 2097
2 C.Stern et al. Table I. Translocations in patient and control groups IVF-IF RMC Infertility patients Neonatal population n 514 n 319 n 1000 n n (%) n (%) n (%) n (%) 7 (1.4)* 13 (4.1) 3 (0.3) 174 (0.2) *P compared with neonatal population; P compared with infertility patients. IVF-IF in-vitro fertilization implantation failure; RMC recurrent miscarriage. Table II. Description of chromosomal translocations a identified in patients with implantation failure referred for chromosome analysis 46,XX,t(2;18)(q31;p11.2) 46,XX,t(8;11)(p11.2;p15.1) 46,XX,t(8;16)(q11.2;q13) 46,XY,t(1;9)(p32;q22.3) 46,XY,t(5;21)(p12;q11.2) 46,XY,t(3;9)(p21.1;q22.1) 45,XY,der(13;14)(q10;q10) a Translocations were de novo in patients who agreed to testing; five couples, however, did not agree and therefore it is not known if translocation was de novo or familial. Figure 1. Micrograph of karyotype in patient with IVF implantation failure showing reciprocal translocation 46,XX, t (8;11)(p11.2;p15.1). partners. For 219 couples both partners results were available. Major infertility diagnoses for these patients were as follows: anovulation in six patients (2%), occlusive tubal disease diagnosed by laparoscopy or radiological examination in 69 patients (23%), significant endometriosis involving the ovaries, classified as revised AFS (American Fertility Society, 1985) stage 3 or 4 diagnosed by laparoscopy in 25 patients (9%), isolated male factor infertility (as per World Health Organization guidelines for subfertility) (WHO, 1992) in 86 patients (29%), combined male and tubal infertility in 14 patients (5%), and unexplained infertility in 93 patients (32%). Detailed studies of the other possible causes of IF were also undertaken, including autoantibody testing and outpatient hysteroscopy. Recurrent miscarriage (RMC) group We also evaluated 184 women aged years (mean age 34 years) attending the Recurrent Miscarriage Clinic. These women had all suffered at least three sequential first-trimester clinical pregnancy losses (mean 4, range 3 16). One hundred and thirty-five partners were also tested, and results were available for both partners in 130 couples. Again, detailed studies of the other possible causes of RMC were also undertaken, including autoantibody testing and outpatient hysteroscopy. Control groups In order to evaluate the significance of our findings we compared results from the patient groups with two groups of historical controls: (i) infertile control group: 500 couples referred for IVF or related fertility treatment (Hens et al., 1988), age range of women years, modal age 30 years; (ii) neonatal population control group: infants screened in population-based screening programmes (van Assche et al., 1996), comprising male infants (Walzer and Gerald, 1977), infants (Hook and Hamerton, 1977), and infants ( males and females, Nielsen and Wohlert, 1991). Cytogenetic studies Cytogenetic preparations were obtained from phytohaemagglutinin (PHA)-stimulated peripheral blood lymphocytes. Cultures were estab Figure 2. Micrograph of karyotype in patient with IVF implantation failure showing Robertsonian translocation 45,XY, der (13;14)(q10;10). lished by routine methods (Rooney and Czepulkowski, 1992) and synchronized with 300 µg/ml bromodeoxyuridine (BrdU), a thymidine analogue, 48 h after initiation. BrdU was removed after 14 h and fresh medium was added to the cultures; cells were harvested 6 h later. Chromosome analysis was carried out on G-banded metaphases with a minimum of 10 cells routinely examined. A further cells were examined if chromosomal mosaicism was suspected. In the historical studies variable numbers of metaphases were examined. Statistical analysis Differences between frequencies were tested using the binomial distribution. The effects of different factors on implantation failure or recurrent miscarriage were analysed using regression analysis.
3 Translocations in IVF-implantation failure Figure 3. Translocations in couples where both partners are tested. Results Chromosomal abnormalities (excluding Turner s syndrome and Klinefelter s syndrome) were detected in 13/514 individuals in the IF group (2.5%) and 15/319 individuals in the RMC group (4.7%), compared with 13/1000 individuals in the historical infertile controls (1.3%) and 299/94465 historical screened neonates (0.3%). Sex chromosome abnormalities were found in 5/514 (1%) of IF patients and 1/319 (0.3%) of patients with RMC. One IF male partner was found to have a balanced paracentric inversion of chromosome 15 and one RMC patient was found to have a variant chromosome 1. Autosomal translocations were found in 7/514 individuals in the IF group (1.4%) (see Table I) and thus were significantly more common in this group than in the infertile controls (P ) and the screened neonates (P ). The translocations detected in the IF group included three reciprocal translocations in the female partners and three reciprocal translocations and one Robertsonian translocation in the male partners (see Table II and Figures 1 and 2). There were no couples in this group with a history of recurrent spontaneous miscarriage, but two couples had a history of one previous spontaneous miscarriage prior to development of infertility. One of the male translocations (46,XY, t (5;21)) was found in a couple who had significant male infertility and that male had also been found to be carrying a Yq microdeletion (de Kretser et al., 1997). Translocations were found in 7/219 couples (3.2%) with IF where both partners were tested (see Figure 3). When results were analysed according to sex, 3/293 females in the IF group (1.0%) were found to carry translocations, compared with 1/500 historical infertile female controls (0.2%) (P 0.005), while 4/221 males (1.8%) in the IF group carried translocations compared with 2/500 historical infertile male controls (0.4%) (P 0.005). In order to investigate whether there were any particular patient or embryo characteristics that were associated with chromosomal abnormalities, Poisson regression analysis was carried out. There was no association between infertility diagnosis and presence of a chromosomal abnormality. There was no statistically significant difference in embryo quality, i.e. proportion of good-quality embryos (grade 1 or 2) between the patients with translocations, those with IVF-implantation failure without translocations and our total IVF population (48.6, 51.7 and 47.6% respectively). None of the patients with a chromosomal Table III. Description of chromosomal translocations a identified in patients with recurrent miscarriage referred for chromosome analysis 46,XX,t(6;10)(q22.32;q11.23) 46,XX,t(6;8)(p22.2;q21.2) 46,XX,t(4;14)(p14;q31) 46,XX,t(11;18)(q23.3;q11.2) 46,XX,t(3;6)(p14.1;p21.1) 46,XX,t(7;22)(p13;q11.2) a 46,XX,t(5;11)(q15;q21) 46,XY,t(2;13)(p13;q22) 46,XY,t(7;11)(q22;q23) b a See footnote to Table II; b partners. abnormality was found to have other potential causes of IF on autoantibody and hysteroscopic assessment. Translocations were found in 13/319 individuals in the recurrent miscarriage group (4.1%). Eleven of 184 female partners (6.0%) carried balanced translocations, of which seven were reciprocal and four were Robertsonian anomalies, while two reciprocal translocations were found in 135 male partners (1.5%) of women with RMC (see Table III). In one couple with RMC, both partners were found to be carrying reciprocal translocations (46,XX,t(7;22) and 46,XY,t(7;11). In twelve of 130 couples with RMC where both partners were tested, a balanced translocation was found in one or both partners (9.2%). One female patient with a translocation was also found to have antiphospholipid antibodies, and no patients had hysteroscopic abnormalities. Conclusions This study has shown that couples with otherwise unexplained repeated failure of IVF-embryo implantation have a greater than expected chance of carrying a balanced chromosomal translocation. Thus it is possible that the presence of an unbalanced translocation in some gametes may predispose to preimplantation failure of embryo development, and increase the risk of repeated failure of IVF treatment. Historical control data from screened neonatal populations have been utilized for comparison purposes in this report because it was not feasible in our study to perform our own population-based karyotype screening programme. 2099
4 C.Stern et al. Of all recognized spontaneous abortions, about 50% have a chromosomal abnormality. In couples with recurrent spontaneous abortion, a balanced translocation has been found in one partner in about 5 7% of cases, depending on the number of previous miscarriages (Campana et al., 1986). In our series of couples with at least three previous sequential miscarriages, 9.2% were found to be carrying balanced translocations in either or both partners. Autosomal balanced translocations have also been implicated in patients with infertility, particularly male infertility (Chandley, 1984; De Braekeleer and Dao, 1991). There is an increased risk of males with autosomal abnormalities being found to have oligozoospermia (Yoshida et al., 1996), and chromosome studies on spermatozoa show an unbalanced karyotype in variable proportions, e.g. 54% for reciprocal translocations (Martin and Hulten, 1993) and 13.7% for Robertsonian translocations (Martin et al., 1992). There is only limited information available relating to the implications of structural aberrations on oogenesis (Speed, 1988; Tupler and Barbierato et al., 1994). In a recent study evaluating chromosomal abnormalities in 447 couples undergoing intracytoplasmic sperm injection (ICSI), autosomal translocations were found in 2% of couples, four in the male partners and five in the female partners (Meschede et al., 1998). In another study evaluating 305 couples presenting for ICSI, translocations were found in 3.2% of couples, five reciprocal translocations and one Robertsonian translocation in the male partners and two reciprocal and two Robertsonian translocations in the female partners (van der Ven et al., 1998). In a recent report, a male with severe oligoasthenoteratozoospermia underwent chromosomal testing after having two cycles of ICSI and was found to carry a rare de-novo t(y;16) translocation. After genetic counselling he elected to undergo further ICSI treatment, which resulted in the birth of healthy twins, one with a 46, XX karyotype and the other with a 46,X,t,(Y;16) karyotype, the same as the father (Giltay et al., 1998). However, there is very little information relating to chromosomal abnormalities in couples who have repeated attempts at IVF treatment, with production of adequate numbers of goodquality embryos and apparently appropriately primed endometrium, without achieving evidence of clinical pregnancy. In these couples embryos may be lost at the cleavage stage, blastocyst stage, or even around the peri-implantation period. It is tempting to postulate that in some cases of implantation failure, such as recurrent spontaneous miscarriage, embryos fail to progress because of unbalanced structural chromosomal defects. Most very early conceptions that fail to develop are likely to be chromosomally abnormal (Munné et al., 1994). Some abnormalities, including those that are structurally unbalanced, may allow initial development to the blastocyst stage, and even implantation, but then fail to continue development (Miller et al., 1980; Craft et al., 1982). The inheritance patterns of translocations are relatively unpredictable, and are determined by various modes of segregation at meiosis I. The pattern of segregation and the implications for progeny gametes depend on the particular 2100 chromosomes involved and the size of the rearrangement (Gardner and Sutherland, 1996). While some authors have attempted to correlate quantitative chromatin imbalance with the risk of miscarriage or having a liveborn affected child (Daniel et al., 1989; Cohen et al., 1994), the risks of pre- and peri-implantation loss associated with balanced parental translocations are largely unknown. This makes counselling for couples with infertility and implantation failure extremely difficult. The development of techniques allowing preimplantation diagnosis of structural anomalies (Munné et al., 1998a,b) is of particular relevance to infertile couples with balanced autosomal translocations and may reduce the disappointment associated with chromosomally unbalanced embryos. In a recent report, co-culture on embryos from a women known to carry a de-novo balanced reciprocal translocation between chromosomes 1 and 22 was performed, in order to attempt partial selection of the embryos in vitro. Five of seven embryos arrested and on subsequent testing using three-colour in-situ hybridization were all found to have severe lethal cytogenetic anomalies related to the maternal translocation. The two embryos that developed to blastocyst stage were transferred and resulted in the birth of a singleton male child that had inherited the maternal balanced translocation (Ménézo et al., 1997). In conclusion, this study has demonstrated that balanced parental translocations may be implicated in the pathogenesis of IVF-implantation failure. Chromosomal evaluation should be considered as part of the investigation of these patients, and genetic counselling and consideration of preimplantation diagnosis should be an integral part of planning of further treatment strategies. References American Fertility Society (1985) Revised American Fertility Society classification of endometriosis. Fertil. Steril., 43, 351. Campana, M., Serra, A. and Neri, G. (1986) Role of chromosome aberrations in recurrent abortion: a study of 269 balanced translocations. Am. J. Med. Genet., 24, Cassel, M.J., Munné, S., Fung, J. and Weier, H.-U.G. (1997) Carrier-specific breakpoint-spanning DNA probes: an approach to preimplantation genetic diagnosis in interphase cells. Hum. Reprod.,12, Chandley, A.C. (1983) Infertility and recurrent abortion. In Emery, E.H. and Rimoin, D.L. (eds), Principles and Practice of Medical Genetics. Churchill Livingstone, Edinburgh, p Chandley, A. (1984) Infertility and chromosomal abnormality. Oxf. Rev. Reprod. Biol., 6, Cohen, O., Cans, C., Mermet, M-A. et al. (1994) Viability thresholds for partial trisomies and monosomies. A study of 1159 viable unbalanced reciprocal translocations. Hum. Genet., 93, Craft, I., Djahanbakhch, O., McLeod, F. et al. (1982) Human pregnancy following oocyte and sperm transfer to the uterus. Lancet, i, Crosignani, P.G. and Rubin, B.L. (eds) (1982) Genetic Control of Gamete Production and Function. Academic Press, New York. Daniel, A., Hook, E. and Wulf, G. (1989) Risks of unbalanced progeny at amniocentesis to carriers of chromosomal rearrangements: data from United States and Canadian laboratories. Am. J. Med. Genet., 31, De Braekeleer, M. and Dao, T. (1991) Cytogenetic studies in male infertility. Hum. Reprod., 6, De Kretser, D., Mallidis, C. and Bhasin, K. (1997) Y chromosome deletions and male infertility. Reprod Med. Rev., 6, Gardner R.J.McK., and Sutherland G. R. (1996) Chromosome Abnormalities and Genetic Counselling. Oxford University Press, pp. 39,
5 Translocations in IVF-implantation failure Giltay, J., Tiemessen, C., van Inzen, W. et al. (1998) One normal child and a chromosomally balanced/normal twin after intracytoplasmic sperm injection in a male with a de-novo t(y;16) translocation. Hum. Reprod., 13, Hens, L., Bonduelle, M., Liebaers, I. et al. (1988) Chromosome aberrations in 500 couples referred for in-vitro-fertilization or related fertility treatment. Hum. Reprod., 3, Hook, E.B. and Hamerton, J.L. (1977) The frequency of chromosome abnormalities detected in consecutive newborn studies differences between studies results by sex and by severity of phenotypic involvement. In Hook, E.B. and Porter, H. (eds), Population Cytogenetics: Studies in Humans. Academic Press, New York, USA, pp Koulisher, L and Gillerot, Y. (1985) Chromosomes and infertility: study of 7672 cases. Contraception, Fertil. Steril., 1, Martin, R., Ko, E. and Hildebrand, K. (1992) Analysis of sperm chromosome complements from a man heterozygous for a Robertsonian translocation 45 XY, t(15q;22q). Am. J. Med. Genet., 43, Martin, R. and Hulten, M. (1993) Chromosome complements in 695 sperm from three men heterozygous for reciprocal translocations and a review of the literature. Hereditas, 118, Ménézo, Y., Bellec, V., Zaroukian, A. et al. (1997) Embryo selection by IVF, co-culture and transfer at the blastocyst stage in case of translocation. Hum. Reprod., 12, Meschede, D., Lemcke, B., Exeler, J. et al. (1998) Chromosome abnormalities in 447 couples undergoing intracytoplasmic sperm injection prevalence, types, sex distribution and reproductive relevance. Hum. Reprod., 13, Miller, J., Williamson, E., Glue, J. et al. (1980) Fetal loss after implantation. A prospective study. Lancet, ii, Munné, S., Grifo, J., Cohen, J. et al. (1994) Chromosomal abnormalities in human arrested preimplantation embryos: a multiple-probe FISH study. Am. J. Hum. Genet., 55, Munné, S., Scott, R., Sable, D. et al. (1998a) First pregnancies after preconception diagnosis of translocations of maternal origin. Fertil. Steril., 69, Munné, S., Fung, J., Cassel, M.J. et al. (1998b) Preimplantation genetic analysis of translocations: case-specific probes for interphase cell analysis. Hum. Genet., 102, Nielsen, J. and Wohlert, M. (1991) Chromosome abnormalities found among newborn children: results from a 13-year incidence study in Århus, Denmark. Hum. Genet., 22, Rooney, D.E. and Czepulkowski, (eds) (1992) Human Cytogenetics, A Practical Approach, vol. 1. IRL Press at Oxford University Press, pp Speed, R. (1988) The possible role of meiotic pairing anomalies in the atresia of human fetal oocytes. Hum. Genet., 78, Stern, C., Chamley, L., Hale, L. et al. (1998) Antibodies to β2 glycoprotein I are associated with in vitro fertilization implantation failure as well as recurrent miscarriage: results of a prevalence study. Fertil. Steril., 70, Tupler, R., Barbierato, L., Larizza, D. et al. (1994) Balanced autosomal translocations and ovarian dysgenesis. Hum. Genet., 94, Walzer, S. and Gerald, P. (1977) A chromosome survey of male newborns. In Hook, E.B. and Porter, H. (eds), Population Cytogenetics: Studies in Humans. Academic Press, New York, USA, pp Van Assche, E., Bonduelle, M., Tournaye, H. et al. (1996) Cytogenetics of infertile men. In Van Steirteghem, A. Devroey, P. and Liebaers, I. (eds), Genetics and Assisted Human Conception. Hum. Reprod., 11 (Suppl. 4), Van der Ven, K., Peschka, B., Montag, M. et al. (1998). Increased frequency of congenital chromosomal aberrations in female partners of couples undergoing intracytoplasmic sperm injection. Hum. Reprod., 13, World Health Organization (1992) WHO Laboratory Manual for the Examination of Human Semen and Sperm Cervical Mucus Interaction, 3rd edn. Cambridge University Press, Cambridge, UK. Yoshida, A., Miura, K. and Shirai, M. (1996) Chromosome abnormalities and male infertility. Assist. Reprod. Rev., 6, Received on February 8, 1999; accepted on May 7,
CYTOGENETICS Dr. Mary Ann Perle
CYTOGENETICS Dr. Mary Ann Perle I) Mitosis and metaphase chromosomes A) Chromosomes are most fully condensed and clearly distinguishable during mitosis. B) Mitosis (M phase) takes 1 to 2 hrs and is divided
More informationAbstract. Introduction
RBMOnline - Vol 13 No 6. 2006 869-874 Reproductive BioMedicine Online; www.rbmonline.com/article/2507 on web 18 October 2006 Article Preimplantation genetic diagnosis significantly improves the pregnancy
More informationEffect of chromosomal translocations on the development of preimplantation human embryos in vitro
FERTILITY AND STERILITY VOL. 74, NO. 4, OCTOBER 2000 Copyright 2000 American Society for Reproductive Medicine Published by Elsevier Science Inc. Printed on acid-free paper in U.S.A.,2 Effect of chromosomal
More informationIN VITRO FERTILIZATION
FERTILITY AND STERILITY VOL. 78, NO. 3, SEPTEMBER 2002 Copyright 2002 American Society for Reproductive Medicine Published by Elsevier Science Inc. Printed on acid-free paper in U.S.A. IN VITRO FERTILIZATION
More informationA Retrospective Cytogenetic Study of Chromosomal Abnormalities in Infertile Couples of Indian Origin
Available online at www.scholarsresearchlibrary.com Scholars Research Library Der Pharmacia Lettre, 2017, 9 [4]:44-56 [http://scholarsresearchlibrary.com/archive.html] ISSN 0975-5071 USA CODEN: DPLEB4
More informationEffect of Reciprocal Translocations on Phenotypic Abnormalities
Kamla-Raj 2010 Int J Hum Genet, 10(1-3): 113-119 (2010) Effect of Reciprocal Translocations on Phenotypic Abnormalities Preetha Tilak Division of Human Genetics, Department of Anatomy, St. John s Medical
More informationSNP array-based analyses of unbalanced embryos as a reference to distinguish between balanced translocation carrier and normal blastocysts
J Assist Reprod Genet (2016) 33:1115 1119 DOI 10.1007/s10815-016-0734-0 TECHNOLOGICAL INNOVATIONS SNP array-based analyses of unbalanced embryos as a reference to distinguish between balanced translocation
More informationA Retrospective Study of Balanced Chromosomal Translocations in a Turkish Population
Kamla-Raj 2012 Int J Hum Genet, 12(4): 319-323 (2012) A Retrospective Study of Balanced Chromosomal Translocations in a Turkish Population N. Karakus 1, N. Kara 1, S. Tural 1, I. Kocak 2 and M. Elbistan
More informationChromosome Abnormalities
Chromosome Abnormalities Chromosomal abnormalities vs. molecular mutations Simply a matter of size Chromosomal abnormalities are big errors Two types of abnormalities 1. Constitutional problem present
More informationCanadian College of Medical Geneticists (CCMG) Cytogenetics Examination. May 4, 2010
Canadian College of Medical Geneticists (CCMG) Cytogenetics Examination May 4, 2010 Examination Length = 3 hours Total Marks = 100 (7 questions) Total Pages = 8 (including cover sheet and 2 pages of prints)
More informationCommittee Paper SCAAC(05/09)01. ICSI guidance. Hannah Darby and Rachel Fowler
Committee Paper Committee: Scientific and Clinical Advances Advisory Committee Meeting Date: 12 May 2009 Agenda Item: 4 Paper Number: SCAAC(05/09)01 Paper Title: ICSI guidance Author: Hannah Darby and
More informationPreimplantation Genetic Testing
Protocol Preimplantation Genetic Testing (40205) Medical Benefit Effective Date: 01/01/14 Next Review Date: 09/14 Preauthorization No Review Dates: 09/11, 09/12, 09/13 The following Protocol contains medical
More informationUnderstanding the Human Karyotype Colleen Jackson Cook, Ph.D.
Understanding the Human Karyotype Colleen Jackson Cook, Ph.D. SUPPLEMENTAL READING Nussbaum, RL, McInnes, RR, and Willard HF (2007) Thompson and Thompson Genetics in Medicine, 7th edition. Saunders: Philadelphia.
More informationMeiotic outcomes in reciprocal translocation carriers ascertained in 3-day human embryos
(2002) 10, 801 806 ª 2002 Nature Publishing Group All rights reserved 1018 4813/02 $25.00 www.nature.com/ejhg ARTICLE ascertained in 3-day human embryos Caroline Mackie Ogilvie*,1 and Paul N Scriven 1
More informationLecture 17: Human Genetics. I. Types of Genetic Disorders. A. Single gene disorders
Lecture 17: Human Genetics I. Types of Genetic Disorders A. Single gene disorders B. Multifactorial traits 1. Mutant alleles at several loci acting in concert C. Chromosomal abnormalities 1. Physical changes
More informationSuccess of intracytoplasmic sperm injection in couples with male and/or female chromosome aberrations
Human Reproduction vol.12 no.12 pp.2635 2640, 1997 Success of intracytoplasmic sperm injection in couples with male and/or female chromosome aberrations M.Montag 1,5, K.van der Ven 1, S.Ved 1, A.Schmutzler
More informationGenetics in Primary Care Curriculum Statement 6. Dr Dave Harniess PCME Stockport
Genetics in Primary Care Curriculum Statement 6 Dr Dave Harniess PCME Stockport Learning Objectives Understanding of genetic component of disease Screening for genetic conditions and risk assessment in
More informationChromosome pathology
Chromosome pathology S. Dahoun Department of Gynecology and Obstetrics, University Hospital of Geneva Cytogenetics is the study of chromosomes and the related disease states caused by abnormal chromosome
More informationChromosomal abnormalities in infertile men and preimplantation embryos Dul, Elsbeth
University of Groningen Chromosomal abnormalities in infertile men and preimplantation embryos Dul, Elsbeth IMPORTANT NOTE: You are advised to consult the publisher's version (publisher's PDF) if you wish
More informationIndications for chromosome screening Dagan Wells, PhD, FRCPath dagan.wells@obs-gyn.ox.ac.ukgyn.ox.ac.uk Chromosome imbalance (aneuploidy) Uncontroversial data The incidence of aneuploidy Aneuploidy is
More informationGENETICS ROTATION OBJECTIVES MATERNAL-FETAL MEDICINE FELLOWSHIP
GENETICS ROTATION OBJECTIVES MATERNAL-FETAL MEDICINE FELLOWSHIP University of New Mexico 1. General Description: UNM MFM fellows rotate through genetics during their PGY5 and PGY7 years. The PGY5 fellow
More informationChromosome Mutations
Chromosome Mutations Variation in Chromosome Number Euploidy: having full sets of chromosomes Haploid Diploid Triploid Aneuploidy: having anything other than full sets of chromosomes Monosomy Trisomy Variation
More informationChromosomal Aberrations
Chromosomal Aberrations Chromosomal Aberrations Abnormalities of chromosomes may be either numerical or structural and may involve one or more autosomes, sex chromosomes, or both simultaneously. Numerical
More informationStructural Chromosome Aberrations
Structural Chromosome Aberrations 2 Structural chromosome aberrations or chromosome mutations represent apart from aneuploidies the most frequent pathologic findings in applied chromosome diagnostics.
More informationChromosomal Structural Abnormalities among Filipino Couples with Recurrent Pregnancy Losses
ORIGINAL CASE REPORT ARTICLE Chromosomal Structural Abnormalities among Filipino Couples with Recurrent Pregnancy Losses Eva Maria Cutiongco-dela Paz,,2 April Grace Dion-Berboso, Edsel Allan G. Salonga
More informationIdentification of embryonic chromosomal abnormality using FISH-based preimplantaion genetic diagnosis
Ye et al. / J Zhejiang Univ SCI 2004 5(10):1249-1254 1249 Journal of Zhejiang University SCIENCE ISSN 1009-3095 http://www.zju.edu.cn/jzus E-mail: jzus@zju.edu.cn Identification of embryonic chromosomal
More informationS.Kahraman 1,4, M.Bahçe 2,H.Şamlı 3, N.İmirzalıoğlu 2, K.Yakısn 1, G.Cengiz 1 and E.Dönmez 1
Human Reproduction vol.15 no.9 pp.2003 2007, 2000 Healthy births and ongoing pregnancies obtained by preimplantation genetic diagnosis in patients with advanced maternal age and recurrent implantation
More informationEwa Wiland 1, Calvin J. Hobel 2, David Hill 3 and Maciej Kurpisz 1 * INTRODUCTION
PRENATAL DIAGNOSIS Prenat Diagn 2008; 28: 36 41. Published online in Wiley InterScience (www.interscience.wiley.com).1899 Successful pregnancy after preimplantation genetic diagnosis for carrier of t(2;7)(p11.2;q22)
More information16 (2), DOI: /bjmg
16 (2), 2013 23-28 DOI: 10.2478/bjmg-2013-0027 ORIGINAL ARTICLE THE INCIDENCE AND TYPE OF CHROMOSOMAL TRANSLOCATIONS FROM PRENATAL DIAGNOSIS OF 3800 PATIENTS IN THE REPUBLIC OF MACEDONIA Vasilevska M 1,*,
More informationChromosome Structure & Recombination
Chromosome Structure & Recombination (CHAPTER 8- Brooker Text) April 4 & 9, 2007 BIO 184 Dr. Tom Peavy Genetic variation refers to differences between members of the same species or those of different
More informationPGS & PGD. Preimplantation Genetic Screening Preimplantation Genetic Diagnosis
1 PGS & PGD Preimplantation Genetic Screening Preimplantation Genetic Diagnosis OUR MISSION OUR MISSION CooperGenomics unites pioneering leaders in reproductive genetics, Reprogenetics, Recombine, and
More informationPrenatal testing in ICSI pregnancies: incidence of chromosomal anomalies in 1586 karyotypes and relation to sperm parameters
Human Reproduction Vol.17, No.10 pp. 2600 2614, 2002 Prenatal testing in ICSI pregnancies: incidence of chromosomal anomalies in 1586 karyotypes and relation to sperm parameters Maryse Bonduelle 1,3, Elvire
More informationIncidence of Chromosomal Abnormalities from a Morphologically Normal Cohort of Embryos in Poor- Prognosis Patients
Incidence of Chromosomal Abnormalities from a Morphologically Normal Cohort of Embryos in Poor- Prognosis Patients M. C. MAGLI,1 L. GIANAROLI,1,3 S. MUNNE,2 and A. P. FERRARETTI1 Submitted: December 29,
More informationDisclosure. Dagan Wells University of Oxford Oxford, United Kingdom
Disclosure Dagan Wells University of Oxford Oxford, United Kingdom Disclosure Declared to be member of the advisory board, board of directors or other similar groups of Illumina Objectives Consider Aneuploidy
More informationGenetics Aspects of Male infertility
Genetics Aspects of Male infertility A. Ebrahimi, Molecular Genetic SM Kalantar, Prof. Molecular Cytogenetic Research & Clinical Centre for Infertility, Reproductive & Genetic Unit, Yazd Medical Sciences
More informationChromosomal aberrations in couples undergoing intracytoplasmic sperm injection: influence on implantation and ongoing pregnancy rates
FERTILITY AND STERILITY VOL. 70, NO. 5, NOVEMBER 1998 Copyright 1998 American Society for Reproductive Medicine Published by Elsevier Science Inc. Printed on acid-free paper in U.S.A. Chromosomal aberrations
More informationProblem Challenge Need. Solution Innovation Invention
Problem Challenge Need Solution Innovation Invention Tubal Infertility In-vitro Fertilisation Steptoe and Edwards Birth after the reimplantation of a human embryo. Lancet 1978 Louise Brown, 25. Juli 1978
More informationMeiosis. Formation of gamete = egg & sperm. Occurs only in ovaries and tees. Makes cells with haploid chromosome number
Meiosis Formation of gamete = egg & sperm Occurs only in ovaries and tees Makes cells with haploid chromosome number Meiosis Diploid= Full set of chromosomes 46 chromosomes in humans Found in most body
More informationArticle Cytogenetic studies in couples with recurrent miscarriage in the Sultanate of Oman
RBMOnline - Vol 18. No 3. 2009 424-429 Reproductive BioMedicine Online; www.rbmonline.com/article/3558 on web 8 January 2009 Article Cytogenetic studies in couples with recurrent miscarriage in the Sultanate
More informationOriginal Policy Date
MP 2.04.77 Preimplantation Genetic Testing Medical Policy Section OB/Gyn/Reproduction Issue 12:2013 Original Policy Date 12:2013 Last Review Status/Date Reviewed with literature search/12:2013 Return to
More informationMODERN TRENDS. Edward E. Wallach, M.D. Associate Editor. Mark D. Johnson, M.D.
FERTILITY AND STERILITY VOL. 70, NO. 3, SEPTEMBER 1998 Copyright 1998 American Society for Reproductive Medicine Published by Elsevier Science Inc. Printed on acid-free paper in U.S.A. MODERN TRENDS Edward
More informationArticles Impact of parental gonosomal mosaicism detected in peripheral blood on preimplantation embryos
RBMOnline - Vol 5. No 3. 306 312 Reproductive BioMedicine Online; www.rbmonline.com/article/699 on web 12 September Articles Impact of parental gonosomal mosaicism detected in peripheral blood on preimplantation
More informationDr Manuela Toledo - Procedures in ART -
Dr Manuela Toledo - Procedures in ART - Fertility Specialist MBBS FRANZCOG MMed CREI Specialities: IVF & infertility Fertility preservation Consulting Locations East Melbourne Planning a pregnancy - Folic
More informationCHAPTER-VII : SUMMARY AND CONCLUSIONS
CHAPTER-VII : SUMMARY AND CONCLUSIONS 199 SUMMARY AND CONCLUSIONS t The rapid development of human genetics during the past couple of decades and the discovery of numerous cytogenetic abnormalities have
More informationFertility 101. About SCRC. A Primary Care Approach to Diagnosing and Treating Infertility. Definition of Infertility. Dr.
Dr. Shahin Ghadir A Primary Care Approach to Diagnosing and Treating Infertility St. Charles Bend Grand Rounds November 30, 2018 I have no conflicts of interest to disclose. + About SCRC State-of-the-art
More informationChromosomes and Human Inheritance. Chapter 11
Chromosomes and Human Inheritance Chapter 11 11.1 Human Chromosomes Human body cells have 23 pairs of homologous chromosomes 22 pairs of autosomes 1 pair of sex chromosomes Autosomes and Sex Chromosomes
More informationArticle Cytogenetic investigations in couples with repeated miscarriages and malformed children: report of a novel insertion
RBMOnline - Vol 14. No 3. 2007 314-321 Reproductive BioMedicine Online; www.rbmonline.com/article/2640 on web 22 January 2007 Article Cytogenetic investigations in couples with repeated miscarriages and
More informationStructural chromosomal abnormalities in couples in cases of recurrent spontaneous abortions in Jilin Province, China
Structural chromosomal abnormalities in couples in cases of recurrent spontaneous abortions in Jilin Province, China H.-T. Fan, M. Zhang, P. Zhan, X. Yang, W.-J. Tian and R.-W. Li Andrology Laboratory,
More informationMeiotic outcome in two carriers of Y autosome reciprocal translocations: selective elimination of certain segregants
Ghevaria et al. Molecular Cytogenetics (2017) 10:1 DOI 10.1186/s13039-017-0303-y RESEARCH Open Access Meiotic outcome in two carriers of Y autosome reciprocal translocations: selective elimination of certain
More informationAbstract. Introduction. Materials and methods. Patients and methods
RBMOnline - Vol 8. No 3. 344-348 Reproductive BioMedicine Online; www.rbmonline.com/article/1178 on web 20 January 2004 Article Cumulative live birth rates after transfer of cryopreserved ICSI embryos
More informationDiagnosis of parental balanced reciprocal translocations by trophectoderm biopsy and comprehensive chromosomal screening
Diagnosis of parental balanced reciprocal translocations by trophectoderm biopsy and comprehensive chromosomal screening Lian Liu, MD Co-Authors: L. W. Sundheimer1, L. Liu2, R. P. Buyalos1,3, G. Hubert1,3,
More informationThe paternal effect of chromosome translocation carriers observed from meiotic segregation in embryos
Human Reproduction, Vol.25, No.7 pp. 1843 1848, 2010 Advanced Access publication on May 28, 2010 doi:10.1093/humrep/deq111 ORIGINAL ARTICLE Reproductive genetics The paternal effect of chromosome translocation
More informationINSIDE IVF: HOW SCIENCE CARES FOR PATIENTS DR DEIRDRE ZANDER-FOX MONASH IVF GROUP HDA GRAND ROUND OCTOBER 31 ST 2018
INSIDE IVF: HOW SCIENCE CARES FOR PATIENTS DR DEIRDRE ZANDER-FOX MONASH IVF GROUP HDA GRAND ROUND OCTOBER 31 ST 2018 IVF-THE ULTIMATE GOAL FERTILISATION EMBRYO CLEAVAGE AND DEVELOPMENT POSITIVE HCG POSITIVE
More informationThe form of cell division by which gametes, with half the number of chromosomes, are produced. Chromosomes
& Karyotypes The form of cell division by which gametes, with half the number of chromosomes, are produced. Homologous Chromosomes Pair of chromosomes (maternal and paternal) that are similar in shape,
More informationIncrease your chance of IVF Success. PGT-A Preimplantation Genetic Testing for Aneuploidy (PGS 2.0)
Increase your chance of IVF Success PGT-A Preimplantation Genetic Testing for Aneuploidy (PGS 2.0) What is PGT-A? PGT-A, or Preimplantation Genetic Testing for Aneuploidy (PGS 2.0), is a type of genomic
More informationIVF AND PREIMPLANTATION GENETIC TESTING FOR ANEUPLOIDY (PGT-A) WHAT THE COMMUNITY PHYSICIAN NEEDS TO KNOW
IVF AND PREIMPLANTATION GENETIC TESTING FOR ANEUPLOIDY (PGT-A) WHAT THE COMMUNITY PHYSICIAN NEEDS TO KNOW Jon Havelock, MD, FRCSC, FACOG Co-Director - PCRM Disclosure No conflict of interest in relation
More informationArticle Influence of spermatogenic profile and meiotic abnormalities on reproductive outcome of infertile patients
RBMOnline - Vol 10. No 6. 2005 735 739 Reproductive BioMedicine Online; www.rbmonline.com/article/1678 on web 13 April 2005 Article Influence of spermatogenic profile and meiotic abnormalities on reproductive
More informationThe Survey of Double Robertsonian Translocation 13q; 14q in the Pedigree of 44; XX Woman: A Case Report
Downloaded from ijmcmed.org at 13:18 +0430 on Sunday August 19th 2018 [ DOI: 10.22088/BUMS.6.4.243 ] IJMCM Autumn 2017, Vol 6, No 4 DOI: 10.22088/BUMS.6.4.243 Case report The Survey of Double Robertsonian
More informationArticle Prevalence of chromosome defects in azoospermic and oligoastheno-teratozoospermic South Indian infertile men attending an infertility clinic
RBMOnline - Vol 10. No 4. 2005 467 472 Reproductive BioMedicine Online; www.rbmonline.com/article/1647 on web 21 February 2005 Article Prevalence of chromosome defects in azoospermic and oligoastheno-teratozoospermic
More informationMULTIPLE CHOICE QUESTIONS
SHORT ANSWER QUESTIONS-Please type your awesome answers on a separate sheet of paper. 1. What is an X-linked inheritance pattern? Use a specific example to explain the role of the father and mother in
More informationAssisted Reproduction. By Dr. Afraa Mahjoob Al-Naddawi
Assisted Reproduction By Dr. Afraa Mahjoob Al-Naddawi Learning Objectives: By the end of this lecture, you will be able to: 1) Define assisted reproductive techniques (ART). 2) List indications for various
More informationGenetic Testing 101: Interpreting the Chromosomes
Genetic Testing 101: Interpreting the Chromosomes Kristin Lindstrom, MD Division of Genetics and Metabolism Phoenix Children s Hospital AzAAP Pediatrics in the Red Rocks I have no disclosures for this
More informationINDICATIONS OF IVF/ICSI
PROCESS OF IVF/ICSI INDICATIONS OF IVF/ICSI IVF is most clearly indicated when infertility results from one or more causes having no other effective treatment; Tubal disease. In women with blocked fallopian
More informationPre-implantation genetic diagnosis in Hong Kong. Ng, EHY; Lau, EYL; Yeung, WSB; Lau, ETK; Tang, MHY; Ho, PC
Title Pre-implantation genetic diagnosis in Hong Kong Author(s) Ng, EHY; Lau, EYL; Yeung, WSB; Lau, ETK; Tang, MHY; Ho, PC Citation Hong Kong Medical Journal, 2003, v. 9 n. 1, p. 43-47 Issued Date 2003
More informationMEIOSIS: Genetic Variation / Mistakes in Meiosis. (Sections 11-3,11-4;)
MEIOSIS: Genetic Variation / Mistakes in Meiosis (Sections 11-3,11-4;) RECALL: Mitosis and Meiosis differ in several key ways: MITOSIS: MEIOSIS: 1 round of cell division 2 rounds of cell division Produces
More informationFamilial Robertsonian Translocation 13;21 in a Down Syndrome Patient with XYY/XY Mosaicism
Kamla-Raj 2006 Int J Hum Genet, 6(4): 291-295 (2006) Familial Robertsonian Translocation 13;21 in a Down Syndrome Patient with XYY/XY Mosaicism Cyril Cyrus 1, Teena K. 2, Solomon F.D.Paul 2, Chandra N.
More informationPreimplantation genetic diagnosis: polar body and embryo biopsy
Human Reproduction, Vol. 15, (Suppl. 4), pp. 69-75, 2000 Preimplantation genetic diagnosis: polar body and embryo biopsy Luca Gianaroli SISMER, Via Mazzini 12, 40138 Bologna, Italy Scientific Director
More informationKaryology. Preparation and study of karyotypes is part of Cytogenetics.
Chromosomal Karyotyping Karyology Karyotyping - process of pairing and ordering all chromosomes of an organism, thus providing a genome-wide snapshot of an individual's chromosomes. Karyotypes describe
More informationShort Report. B Lakhal a, R Braham b, R Berguigua a, N Bouali a, M Zaouali c, M Chaieb b, RA Veitia d,e,f, A Saad a,g and H Elghezal a,g
Clin Genet 2010: 78: 181 185 Printed in Singapore. All rights reserved Short Report 2010 John Wiley & Sons A/S CLINICAL GENETICS doi: 10.1111/j.1399-0004.2009.01359.x Cytogenetic analyses of premature
More informationHold On To Your Dreams
Hold On To Your Dreams Dr. Michael Kettel Dr. Sandy Chuan 1. THE BASICS OF IVF & EMBRYO DEVELOPMENT 2. IVF ADD-ONS - MYTH VS. SCIENCE IN VITRO FERTILIZATION 1. Ovarian Stimulation 2. Egg Retrieval 3. Create
More informationGeneral Embryology. School of Medicine Department of Anatomy and Histology School of medicine The University of Jordan
General Embryology 2019 School of Medicine Department of Anatomy and Histology School of medicine The University of Jordan https://www.facebook.com/dramjad-shatarat What is embryology? Is the science that
More informationPreimplantation genetic diagnosis (PGD) improves pregnancy outcome for translocation carriers with a history of recurrent losses
RECURRENT PREGNANCY LOSS Preimplantation genetic diagnosis (PGD) improves pregnancy outcome for translocation carriers with a history of recurrent losses Jill Fischer, M.S., Pere Colls, Ph.D., Tomas Escudero,
More informationUNDERSTANDING THE GENETIC HEALTH OF EMBRYOS
UNDERSTANDING THE GENETIC HEALTH OF EMBRYOS What is preimplantation genetic testing for aneuploidy? (an abnormal number of chromosomes; PGT-A) is a testing technique that can help choose embryos that appear
More informationChromosome Analyses of Spermatozoa and Embryos Derived from Bulls Carrying the 7/21 Robertsonian Translocation
Chromosome Analyses of Spermatozoa and Embryos Derived from Bulls Carrying the 7/21 Robertsonian Translocation Hirofumi HANADA, Masaya GESHI* and Osamu SUZUKI** National Institute of Animal Industry, Tsukuba
More informationPREVALENCE OF CHROMOSOMAL ABNORMALITIES IN INFERTILE COUPLES IN ROMANIA
8 (), 205 23-30 DOI: 0.55/bjmg-205-0002 ORIGINAL ARTICLE PREVALENCE OF CHROMOSOMAL ABNORMALITIES IN INFERTILE COUPLES IN ROMANIA Mierla D,*, Malageanu M, Tulin R,2, Albu D,2 *Corresponding Author: Dana
More informationMedical Policy Preimplantation Genetic Testing
Medical Policy Preimplantation Genetic Testing Document Number: 004 Commercial* and Connector/ Qualified Health Plans Authorization required X No notification or authorization Not covered * Not all commercial
More informationPreimplantation Genetic Testing Where are we going? Genomics Clinical Medicine Symposium Sept 29,2012 Jason Flanagan, MS,CGC
Preimplantation Genetic Testing Where are we going? Genomics Clinical Medicine Symposium Sept 29,2012 Jason Flanagan, MS,CGC Overview Discuss what PGD and PGS are Pt examples What we have learned Where
More informationRECURRENT PREGNANCY LOSS
RECURRENT PREGNANCY LOSS FERTILITY AND STERILITY VOL. 81, NO. 5, MAY 2004 Copyright 2004 American Society for Reproductive Medicine Published by Elsevier Inc. Printed on acid-free paper in U.S.A. Parental
More informationPOST - DOCTORAL FELLOWSHIP PROGRAMME IN REPRODUCTIVE MEDICINE. Anatomy : Male and Female genital tract
POST - DOCTORAL FELLOWSHIP PROGRAMME IN REPRODUCTIVE MEDICINE DURATION OF THE COURSE : TWO YEARS Detailed syllabus: Part 1 Basic Sciences: Anatomy : Male and Female genital tract Physiology Endocrinology
More informationTHE Y-CHROMOSOME : Genetics of Male Infertility
THE Y-CHROMOSOME : Genetics of Male Infertility Greeshma Gopalan***, Sadia Tabassum Khan**, Ketki Sharma** & Aparna Sarkar * *** Tutor at Physiology Department, Rama Medical College, Hapur, Ghaziabad.;**M.Sc
More informationSuccessive spontaneous abortions caused by a whole-arm translocation between chromosome 10 homologs
www.edoriumjournals.com CASE REPORT PEER REVIEWED OPEN ACCESS Successive spontaneous abortions caused by a whole-arm translocation between chromosome 10 homologs Hana Kathryn Cobb, Dana Knutzen, Alvin
More informationAtlas of Genetics and Cytogenetics in Oncology and Haematology
Atlas of Genetics and Cytogenetics in Oncology and Haematology Genetic Counseling I- Introduction II- Motives for genetic counseling requests II-1. Couple before reproduction II-2. Couple at risk III-
More informationPATIENT CONSENT FORM Preimplantation Genetic Screening (PGS) 24 Chromosome Aneuploidy and Translocation Screening with acgh
PREIMPLANTATION GENETIC SCREENING FOR ANEUPLOIDY SCREENING INTRODUCTION Preimplantation genetic screening (PGS) is used in conjunction with in-vitro fertilization (IVF) to screen embryos for numerical
More informationKamla-Raj 2010 Int J Hum Genet, 10(1-3): (2010)
Kamla-Raj 2010 Int J Hum Genet, 10(1-3): 169-174 (2010) Inter Chromosomal Effect (ICE) Resulting in Increased Abnormal Pregnancies in an Infertile Female with a Rare Robertsonian Translocation (13;21)(p10;p10)
More informationArticle Pre-embryonic diagnosis for Sandhoff disease
RBMOnline - Vol 12. No 3. 2006 328-333 Reproductive BioMedicine Online; www.rbmonline.com/article/2100 on web 9 January 2006 Article Pre-embryonic diagnosis for Sandhoff disease Dr Anver Kuliev received
More information-19. -Mousa Salah. -Shahd Alqudah. -Dr Belal
التزام -19 -Mousa Salah -Shahd Alqudah -Dr Belal 1 P a g e In the previous lecture we talked about the numerical chromosomal abnormalities, they are either autosomal or sex, and we said that the chromosomal
More informationChromosomal Aneuploidy
The Many Advantages of Trophectoderm Biopsy Compared to Day 3 Biopsy for Pre- Implantation Genetic Screening (PGS) Mandy Katz-Jaffe, PhD Chromosomal Aneuploidy Trisomy 21 Fetus Aneuploidy is the most common
More informationCytogenetic abnormalities and reproductive failures
Mædica - a Journal of Clinical Medicine ORIGIN RIGINAL PAPERS APERS: CLINICAL OR BASIC RESEARCH Cytogenetic abnormalities and reproductive failures Agripina LUNGEANU a, CSI, PhD, Adriana STANA b, Assistant
More informationChapter 15 Notes 15.1: Mendelian inheritance chromosome theory of inheritance wild type 15.2: Sex-linked genes
Chapter 15 Notes The Chromosomal Basis of Inheritance Mendel s hereditary factors were genes, though this wasn t known at the time Now we know that genes are located on The location of a particular gene
More informationPrenatal Diagnosis: Are There Microarrays in Your Future?
Financial Disclosure UCSF Antepartum Intrapartum Management Course June 8 I have no financial relationship with any aspect of private industry Prenatal Diagnosis: Are There Microarrays in Your Future?
More informationBiology of fertility control. Higher Human Biology
Biology of fertility control Higher Human Biology Learning Intention Compare fertile periods in females and males What is infertility? Infertility is the inability of a sexually active, non-contracepting
More informationCri du chat syndrome after preimplantation genetic diagnosis for reciprocal translocation
CASE REPORT Cri du chat syndrome after preimplantation genetic diagnosis for reciprocal translocation Yinghui Ye, M.D., Ph.D., Yuqin Luo, B.Sc., Yuli Qian, B.Sc., Chenming Xu, Ph.D., and Fan Jin, M.D.
More informationMedical Genetics. Nondisjunction Definition and Examples. Basic Structure of Chromosomes. See online here
Medical Genetics Nondisjunction Definition and Examples See online here Nondisjunction connotes failure of separation of homologous chromosomes during cell division. It has significant repercussions and
More informationDirector of Commissioning, Telford and Wrekin CCG and Shropshire CCG. Version No. Approval Date August 2015 Review Date August 2017
Commissioning Policy for In Vitro Fertilisation (IVF)/ Intracytoplasmic Sperm Injection (ICSI) within tertiary Infertility Services, in Shropshire and Telford and Wrekin Owner(s) Version No. Director of
More informationA Stepwise Approach to Embryo Selection and Implantation Success
Precise Genetic Carrier Screening An Overview A Stepwise Approach to Embryo Selection and Implantation Success Put today s most advanced genetic screening technology to work for you and your family s future.
More informationAzoospermia and paternal autosomal ring chromosomes: case report and literature review
Reproductive BioMedicine Online (2011) 23, 466 470 www.sciencedirect.com www.rbmonline.com ARTICLE Azoospermia and paternal autosomal ring chromosomes: case report and literature review Hemashree Rajesh
More information24-Feb-15. Learning objectives. Family genetics: The future??? The traditional genetics. Genetics and reproduction in early 2015.
Learning objectives Family genetics: The future??? Peter Illingworth Medical Director IVFAustralia Understand how genetic problems may affect successful conception Consider the possible conditions and
More informationSegregation of chromosomes in spermatozoa of four Hungarian translocation carriers
Segregation of chromosomes in spermatozoa of four Hungarian translocation carriers Anna Kékesi, a Edit Erdei, M.D., Ph.D., b Miklós Török, M.D., Ph.D., a Sándor Drávucz, M.D., Ph.D., a and András Tóth,
More informationComprehensive molecular cytogenetic analysis of the human blastocyst stage
Human Reproduction Vol.23, No.11 pp. 2596 2608, 2008 Advance Access publication on July 29, 2008 doi:10.1093/humrep/den287 Comprehensive molecular cytogenetic analysis of the human blastocyst stage E.
More information