Journals / Türk Fertilite Dergisi / 2004 / Cilt: 12 - Sayı: 1

Application of comparative genomic hybridization in preimplantation genetic diagnosis

Preimplantasyon genetik tanıda karşılaştırmalı genom hibridizasyonu kullanımı

Pages
54–63
Publication Date
2022-11-05
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

However studies to decrease the time for analysis and increase reliability of the CGH technique are very hopeful for the future.

📌 3 Key Takeaways

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Objective & Hypothesis:Objective: Chromosomal anomalies in human embryo are one of the majör causes of early pregnancy wastage.
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Key Findings & Data:Preimplantation genetic diagnosis (PGD) can be defined as very early'form of prenatal diagnosis aimed at eliminating embryos carrying serious genetic disease before pregnancy is established.
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Conclusion & Impact:However studies to decrease the time for analysis and increase reliability of the CGH technique are very hopeful for the future.
🔬Design:Review & Systematic Survey
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Objective: Chromosomal anomalies in human embryo are one of the majör causes of early pregnancy wastage. Preimplantation genetic diagnosis (PGD) can be defined as very early'form of prenatal diagnosis aimed at eliminating embryos carrying serious genetic disease before pregnancy is established. Recently developed single cell comparative genomic hybridization (CGH) technique provides a much more extensive chromosome Screen compared to other met¬hods. In this review CGH on a single cell and possible application as PGD method in clinical settings are discussed. Institution: Laboratoire de recherche en reproduction humaine, Faculte de Midecine, U.L.B. Method: Methods of single cell CGH and its application for PGD in clinical phase are obtained via latest literature. Conclusion: Classical single cell CGH is still not practical enough for application as a routine PGD technique. However studies to decrease the time for analysis and increase reliability of the CGH technique are very hopeful for the future.

Özet

Amaç: İnsan embryosunda görülen kromozomal anomalileri erken gebelik kayıplarının en önemli nedenlerinden biridir. Prenatal tanının erken formu olarak tanımlanan preimplantasyon genetik tanı (PGT) ciddi genetik hastalık yada kromozom bozukluğu taşıyan embryoların daha gebelik oluşmadan belirlenmesi amacı ile kullanılmaktadır. Son yıllarda uygulanmaya başlayan tek hücreden karşılaştırmalı genom hibridizasyonu (CGH) tekniği embryo üzerinde diğer metotlara göre çok daha geniş kromozom taramasına olanak sağlamaktadır. Bu derlemede CGH tekniği ve klinik uygulamada PGT metodu olarak yeri tartışılmıştır. Çalışmanın Yapıldığı Yer: Laboratoire de recherche en reproduction humaine, Faculté de Médecine, U.L.B. Materyal ve Metod: Tek hücre üzerinde CGH uygulamasında kullanılan yöntemler ve PGT metodu olarak klinik uygulamadaki yeri güncel literatür bilgisi ışığında değerlendirilmiştir. Sonuçlar:Klasik tek hücre CGH tekniği hala rutin PGT uygulaması için yeteri kadar pratik değildir. Ancak analiz süresini kısaltmaya ve tekniğin güvenilirliğini arttırmaya yönelik çalışmalar gelecek için son derece umut vericidir.

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Cite This Article

OKUTMAN, Ö., ENGLERT, Y., GONZALES-MERINO, E. (2022). Application of comparative genomic hybridization in preimplantation genetic diagnosis. Türk Fertilite Dergisi, Cilt: 12 - Sayı: 1, 54–63. https://ajindex.com/articles/623346

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References (8)

  1. Hassold T, Chen N, Funkhouser J et al. A cytogenetic study of 1000 spontaneous abortuses. AnnHum Genet 1980; 44:151-78
  2. Voullaire L, Slater H, Williamson R, Wilton L. Chromosome analysis of blastomeres from human embryo by using comparative genomic hybridization. Hum Genet 2000; 106: 210-217
  3. Magli MC, Jones GM, Gras L, Gianaroli L, Korman I, Trounson AO. Chromosome mosaicism in day 3 aneuploid embryos that develop to morphologi- cally normal blastocycts in vitro. Hum Reprod 2000; 15: 1781-1786 4. Handyside AH, Kontogianni EH, Hardy K, Winston RM. Pregnancies from biopsied human pre-implantation embryos sexed by Y-specific DNA amplification. Nature 1990; 344(6268):768-70 5. Bahce M, Cohen J, Munne S. Preimplantation genetic diagnosis of aneuploidy: were we looking at the wrong chromosomes?. J Assist Reprod Genet 1999; 16(4): 176-181 6. Abdelhadi I, Colls P, Sandalinas M, Escudero T, MunnŽ S. Preimplantation genetic diagnosis of numerical abnormalities for 13 chromosomes. Reprod Biomed Online 2003; 6(2):226-231
  4. Klein CA, Schmidt-Kittler O, Schardt JA, Pantel K, Speicher MR, RiethmŸller G. Comparative genomic hybridization, loss of heterozygosity, and DNA sequence analysis of single cells. PNAS 1999; 96: 4494-4499
  5. Voullaire L, Wilton L, Slater H, Williamson R Detection of aneuploidy in single cells using comparative genomic hybridization. Prenat Diagn 1999; 19 (9): 846-851 9. Wells D, Sherlock JK, Handyside AH, Delhanty JD. Detailed chromosomal and molecular genetic analysis of single cells by whole genome amplification and comparative genomic hybridisation. Nucleic Acids Res. 1999; 27(4):1214-8 10. Telenius H, Carter NP, Bebb CE, Nordenskjold M, Ponder BA Tunnacliffe A. Genomics 1992, 13: 718-725
  6. Cheung VG, Nelson SF. Whole genome amplification using a degenerate oligonucleotide primer allows hundreds of genotypes to be performed on less than one nanogram of genomic DNA. PNAS 1996 93: 14676-14679 12. Wells D, Sherlock JK. Strategies for preimplantation genetic diagnosis of single gene disorders by DNA amplification. Prenat Diagn 1998; 18: 1389- 1401
  7. Wells D, Delhanty JDA. Comprehensive chromosomal analysis of human preimplantation embryos using whole genome amplification and single cell comparative genomic hybridization. Mol Hum Reprod 2000; 6(11): 1055-1062
  8. Kallioniemi OP, Kallioniemi A, Piper J et al Optimizing comparative genomic hybridization for analysis of DNA sequence copy number changes in solid tumors. Genes Chromos