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https://www.readbyqxmd.com/read/26982524/multicolor-detection-of-every-chromosome-as-a-means-of-detecting-mosaicism-and-nuclear-organization-in-human-embryonic-nuclei
#1
Kara Turner, Katie Fowler, Gothami Fonseka, Darren Griffin, Dimitrios Ioannou
Fluorescence in-situ hybridization (FISH) revolutionized cytogenetics using fluorescently labelled probes with high affinity with target (nuclear) DNA. By the early 1990s FISH was adopted as a means of preimplantation genetic diagnosis (PGD) sexing for couples at risk of transmitting X-linked disorders and later for detection of unbalanced translocations. Following a rise in popularity of PGD by FISH for sexing and the availability of multicolor probes (5-8 colors), the use of FISH was expanded to the detection of aneuploidy and selective implantation of embryos more likely to be euploid, the rationale being to increase pregnancy rates (referral categories were typically advanced maternal age, repeated IVF failure, repeated miscarriage or severe male factor infertility)...
June 2016: Panminerva Medica
https://www.readbyqxmd.com/read/26024488/increasing-live-birth-rate-by-preimplantation-genetic-screening-of-pooled-polar-bodies-using-array-comparative-genomic-hybridization
#2
Michael Feichtinger, Tina Stopp, Christian Göbl, Elisabeth Feichtinger, Enrico Vaccari, Ulrike Mädel, Franco Laccone, Monika Stroh-Weigert, Markus Hengstschläger, Wilfried Feichtinger, Jürgen Neesen
Meiotic errors during oocyte maturation are considered the major contributors to embryonic aneuploidy and failures in human IVF treatment. Various technologies have been developed to screen polar bodies, blastomeres and trophectoderm cells for chromosomal aberrations. Array-CGH analysis using bacterial artificial chromosome (BAC) arrays is widely applied for preimplantation genetic diagnosis (PGD) using single cells. Recently, an increase in the pregnancy rate has been demonstrated using array-CGH to evaluate trophectoderm cells...
2015: PloS One
https://www.readbyqxmd.com/read/23768618/successful-pgd-for-late-infantile-neuronal-ceroid-lipofuscinosis-achieved-by-combined-chromosome-and-tpp1-gene-analysis
#3
Jiandong Shen, David Stephen Cram, Wei Wu, Lingbo Cai, Xiaoyu Yang, Xueping Sun, Yugui Cui, Jiayin Liu
Late infantile neuronal ceroid lipofuscinosis (NCL-2) is a severe debilitating autosomal recessive disease caused by mutations in TPP1. There are no effective treatments, resulting in early childhood death. A couple with two affected children presented for reproductive genetic counselling and chose to undertake IVF and preimplantation genetic diagnosis (PGD) to avoid the possibility of another affected child. However, DNA testing revealed only one mutation in the proband inherited from mother. Linkage analysis identified five informative linked short tandem repeat markers to aid the genetic diagnosis...
August 2013: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/23448851/preimplantation-genetic-diagnosis-for-aneuploidy-and-translocations-using-array-comparative-genomic-hybridization
#4
Santiago Munné
At least 50% of human embryos are abnormal, and that increases to 80% in women 40 years or older. These abnormalities result in low implantation rates in embryos transferred during in vitro fertilization procedures, from 30% in women <35 years to 6% in women 40 years or older. Thus selecting normal embryos for transfer should improve pregnancy results. The genetic analysis of embryos is called Preimplantation Genetic Diagnosis (PGD) and for chromosome analysis it was first performed using FISH with up to 12 probes analyzed simultaneously on single cells...
September 2012: Current Genomics
https://www.readbyqxmd.com/read/21748341/preimplantation-genetic-diagnosis-state-of-the-art-2011
#5
REVIEW
Joyce C Harper, Sioban B Sengupta
For the last 20 years, preimplantation genetic diagnosis (PGD) has been mostly performed on cleavage stage embryos after the biopsy of 1-2 cells and PCR and FISH have been used for the diagnosis. The main indications have been single gene disorders and inherited chromosome abnormalities. Preimplantation genetic screening (PGS) for aneuploidy is a technique that has used PGD technology to examine chromosomes in embryos from couples undergoing IVF with the aim of helping select the chromosomally 'best' embryo for transfer...
February 2012: Human Genetics
https://www.readbyqxmd.com/read/21596375/detection-of-unbalanced-chromosome-segregations-in-preimplantation-genetic-diagnosis-of-translocations-by-short-comparative-genomic-hibridization
#6
MULTICENTER STUDY
Mariona Rius, Albert Obradors, Gemma Daina, Laia Ramos, Aïda Pujol, Olga Martínez-Passarell, Laura Marquès, Maria Oliver-Bonet, Jordi Benet, Joaquima Navarro
OBJECTIVE: To apply a comprehensive chromosomal screening through short comparative genomic hybridization (CGH) in the preimplantation genetic diagnosis (PGD) of translocations. DESIGN: Clinical research study. SETTING: A PGD laboratory and two IVF clinics. PATIENT(S): Three Robertsonian translocation carriers, two reciprocal translocation carriers, and a double-translocation carrier. INTERVENTION(S): After using the short-CGH approach in the reanalysis of two unbalanced embryos, discarded from a PGD for a reciprocal translocation carrier, the same method was applied in the PGD of day-3 embryos of translocation carriers...
July 2011: Fertility and Sterility
https://www.readbyqxmd.com/read/20537630/the-relationship-between-blastocyst-morphology-chromosomal-abnormality-and-embryo-gender
#7
Samer Alfarawati, Elpida Fragouli, Pere Colls, John Stevens, Cristina Gutiérrez-Mateo, William B Schoolcraft, Mandy G Katz-Jaffe, Dagan Wells
OBJECTIVE: To assess correlation between blastocyst morphology and chromosomal status. DESIGN: Observational research study. SETTING: An IVF clinic and a specialist preimplanation genetic diagnosis (PGD) laboratory. PATIENT(S): Ninety-three couples undergoing IVF treatment in combination with chromosome screening of embryos. INTERVENTION(S): Five hundred blastocysts underwent trophectoderm biopsy and comprehensive chromosome screening using comparative genomic hybridization (CGH)...
February 2011: Fertility and Sterility
https://www.readbyqxmd.com/read/19411132/preimplantation-genetic-diagnosis-state-of-the-art
#8
REVIEW
Claire Basille, René Frydman, Abdelwahab El Aly, Laetitia Hesters, Renato Fanchin, Gérard Tachdjian, Julie Steffann, Marc LeLorc'h, Nelly Achour-Frydman
Preimplantation genetic diagnosis (PGD) is used to analyze embryos genetically before their transfer into the uterus. It was developed first in England in 1990, as part of progress in reproductive medicine, genetic and molecular biology. PGD offers couples at risk the chance to have an unaffected child, without facing termination of pregnancy. Embryos are obtained by in vitro fertilization with intracytoplasmic sperm injection (ICSI), and are biopsied mostly on day 3; blastocyst biopsy is mentioned as a possible alternative...
July 2009: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/19135659/outcome-of-twin-babies-free-of-von-hippel-lindau-disease-after-a-double-factor-preimplantation-genetic-diagnosis-monogenetic-mutation-analysis-and-comprehensive-aneuploidy-screening
#9
Albert Obradors, Esther Fernández, Mariona Rius, Maria Oliver-Bonet, Maria Martínez-Fresno, Jordi Benet, Joaquima Navarro
OBJECTIVE: To increase the embryo implantation rate, a double-factor preimplantation genetic diagnosis (DF-PGD) was performed, selecting for transfer potentially euploid evolved embryos free of the mutation responsible for Von Hippel-Lindau syndrome (VHL). DESIGN: Case report. SETTINGS: Medical university center and a private IVF center. PATIENT(S): A patient carrier of the R161Q mutation on the VHL gene. INTERVENTION(S): After first polar body (1PB) biopsy, it was analyzed using comparative genomic hybridization (1PB-CGH)...
March 2009: Fertility and Sterility
https://www.readbyqxmd.com/read/18523000/birth-of-a-healthy-boy-after-a-double-factor-pgd-in-a-couple-carrying-a-genetic-disease-and-at-risk-for-aneuploidy-case-report
#10
Albert Obradors, Esther Fernández, Maria Oliver-Bonet, Mariona Rius, Alfonso de la Fuente, Dagan Wells, Jordi Benet, Joaquima Navarro
Preimplantation genetic diagnosis (PGD) for monogenic diseases is widely applied, allowing the transfer to the uterus of healthy embryos. PGD is also employed for the detection of chromosome abnormalities for couples at high risk of producing aneuploid embryos, such as advanced maternal (>35 years). A significant number of patients requesting PGD for monogenic diseases are also indicated for chromosome testing. We optimized and clinically applied a PGD protocol permitting both cytogenetic and molecular genetic analysis...
August 2008: Human Reproduction
https://www.readbyqxmd.com/read/15695315/aneuploidy-12-in-a-robertsonian-13-14-carrier-case-report
#11
C Gutiérrez-Mateo, L Gadea, J Benet, D Wells, S Munné, J Navarro
In translocation carriers, the presence of aneuploidy for the chromosomes unrelated to the rearrangement may lead to an additional risk of abnormal pregnancy or implantation failure. Consequently, it may be important to analyse not only the chromosomes involved in the rearrangement but also the rest of chromosomes. We combined spectral karyotyping (SKY) and comparative genomic hybridization (CGH) to karyotype one unfertilized oocyte and its first polar body (1PB) from a Robertsonian translocation carrier t(13;14) aged 29 years who was undergoing IVF and preimplantation genetic diagnosis (PGD) for translocations and aneuploidy screening...
May 2005: Human Reproduction
https://www.readbyqxmd.com/read/15569702/preimplantation-genetic-diagnosis-and-chromosome-analysis-of-blastomeres-using-comparative-genomic-hybridization
#12
REVIEW
Leeanda Wilton
Numerical chromosome errors are known to be common in early human embryos and probably make a significant contribution to early pregnancy loss and implantation failure in IVF patients. Over recent years fluorescent in situ hybridization (FISH) has been used to document embryonic aneuploidies. Many IVF laboratories perform preimplantation genetic diagnosis (PGD) with FISH to select embryos that are free from some aneuploidies in an attempt to improve implantation, pregnancy and live birth rates in particular categories of IVF patients...
January 2005: Human Reproduction Update
https://www.readbyqxmd.com/read/15271867/reliability-of-comparative-genomic-hybridization-to-detect-chromosome-abnormalities-in-first-polar-bodies-and-metaphase-ii-oocytes
#13
Cristina Gutiérrez-Mateo, Dagan Wells, Jordi Benet, Jorge F Sánchez-García, Mercedes G Bermúdez, Itziar Belil, Josep Egozcue, Santiago Munné, Joaquima Navarro
BACKGROUND: Preimplantation Genetic Diagnosis (PGD) using FISH to analyze up to nine chromosomes to discard chromosomally abnormal embryos has resulted in an increase of pregnancy rates in certain groups of patients. However, the number of chromosomes that can be analyzed is a clear limitation. We evaluate the reliability of using comparative genomic hybridization (CGH) to detect the whole set of chromosomes, as an alternative to PGD using FISH. METHODS AND RESULTS: We have analysed by CGH both, first polar bodies (1PBs) and metaphase II (MII) oocytes from 30 oocytes donated by 24 women...
September 2004: Human Reproduction
https://www.readbyqxmd.com/read/12596234/cytogenetics-in-reproductive-medicine-the-contribution-of-comparative-genomic-hybridization-cgh
#14
REVIEW
Dagan Wells, Brynn Levy
Cytogenetic research has had a major impact on the field of reproductive medicine, providing an insight into the frequency of chromosomal abnormalities that occur during gametogenesis, embryonic development and pregnancy. In humans, aneuploidy has been found to be relatively common during fetal life, necessitating prenatal screening of high-risk pregnancies. Aneuploidy rates are higher still during the preimplantation stage of development. An increasing number of IVF laboratories have attempted to improve pregnancy rates by using preimplantation genetic diagnosis (PGD) to ensure that the embryos transferred to the mother are chromosomally normal...
March 2003: BioEssays: News and Reviews in Molecular, Cellular and Developmental Biology
https://www.readbyqxmd.com/read/12215331/first-clinical-application-of-comparative-genomic-hybridization-and-polar-body-testing-for-preimplantation-genetic-diagnosis-of-aneuploidy
#15
COMPARATIVE STUDY
Dagan Wells, Tomas Escudero, Brynn Levy, Kurt Hirschhorn, Joy D A Delhanty, Santiago Munné
OBJECTIVE: To develop a preimplantation genetic diagnosis (PGD) protocol that allows any form of chromosome imbalance to be detected. DESIGN: Case report employing a method based on whole-genome amplification and comparative genomic hybridization (CGH). SETTING: Clinical IVF laboratory. PATIENT(S): A 40-year-old IVF patient. INTERVENTION(S): Polar body and blastomere biopsy. MAIN OUTCOME MEASURE(S): Detection of aneuploidy...
September 2002: Fertility and Sterility
https://www.readbyqxmd.com/read/11994548/single-cell-cgh-analysis-reveals-a-high-degree-of-mosaicism-in-human-embryos-from-patients-with-balanced-structural-chromosome-aberrations
#16
H Malmgren, S Sahlén, J Inzunza, M Aho, B Rosenlund, M Fridström, O Hovatta, L Ahrlund-Richter, M Nordenskjöld, E Blennow
We have performed comparative genomic hybridization (CGH) analysis of single blastomeres from human preimplantation embryos of patients undergoing preimplantation genetic diagnosis (PGD) for inherited structural chromosome aberrations and from embryos of IVF couples without known chromosomal aberrations. The aim was to verify the PGD results for the specific translocation, reveal the overall genetic balance in each cell and visualize the degree of mosaicism regarding all the chromosomes within the embryo. We successfully analysed 94 blastomeres from 28 human embryos generated from 13 couples...
May 2002: Molecular Human Reproduction
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