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A successful strategy for Preimplantation Genetic Diagnosis of beta-thalassemia and simultaneous detection of Down's syndrome using multiplex fluorescent PCR.
J Med Assoc Thai. 2006 Jul; 89(7):918-27.JM

Abstract

OBJECTIVES

Preimplantation Genetic Diagnosis (PGD) is an alternative to prenatal diagnosis providing couples the chance to start a pregnancy with an unaffected fetus. The objective of the present study was to develop and apply quick, sensitive and accurate single cell PCR protocols for PGD of beta-thalassemia and Down's syndrome detection.

MATERIAL AND METHOD

Two couples carrying beta-thalassemia codon41-42 mutation underwent routine IVF procedures. Embryo biopsy was performed on Day-3 post-fertilisation and single cell multiplex fluorescent PCR was employed for mutation analysis, contamination detection and diagnosis of trisomy 21 cases.

RESULTS

Seventeen embryos were tested in two clinical PGD cycles. This resulted in the first birth following PGD for a single gene disorder in Thailand and South East Asia, confirmed by prenatal testing. Two embryos were shown to be affected by Down's syndrome.

CONCLUSION

Successful strategy for PGD of beta-thalassemia and Down's syndrome detection using multiplex fluorescent PCR was introduced.

Authors+Show Affiliations

Department of Obstetrics and Gynaecology, Faculty of Medicine, Chiang Mai University, Thailand. wpiyamon@mail.med.cmu.ac.thNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

16881421

Citation

Piyamongkol, Wirawit, et al. "A Successful Strategy for Preimplantation Genetic Diagnosis of Beta-thalassemia and Simultaneous Detection of Down's Syndrome Using Multiplex Fluorescent PCR." Journal of the Medical Association of Thailand = Chotmaihet Thangphaet, vol. 89, no. 7, 2006, pp. 918-27.
Piyamongkol W, Vutyavanich T, Piyamongkol S, et al. A successful strategy for Preimplantation Genetic Diagnosis of beta-thalassemia and simultaneous detection of Down's syndrome using multiplex fluorescent PCR. J Med Assoc Thai. 2006;89(7):918-27.
Piyamongkol, W., Vutyavanich, T., Piyamongkol, S., Wells, D., Kunaviktikul, C., Tongsong, T., Chaovisitsaree, S., Saetung, R., & Sanguansermsri, T. (2006). A successful strategy for Preimplantation Genetic Diagnosis of beta-thalassemia and simultaneous detection of Down's syndrome using multiplex fluorescent PCR. Journal of the Medical Association of Thailand = Chotmaihet Thangphaet, 89(7), 918-27.
Piyamongkol W, et al. A Successful Strategy for Preimplantation Genetic Diagnosis of Beta-thalassemia and Simultaneous Detection of Down's Syndrome Using Multiplex Fluorescent PCR. J Med Assoc Thai. 2006;89(7):918-27. PubMed PMID: 16881421.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A successful strategy for Preimplantation Genetic Diagnosis of beta-thalassemia and simultaneous detection of Down's syndrome using multiplex fluorescent PCR. AU - Piyamongkol,Wirawit, AU - Vutyavanich,Teraporn, AU - Piyamongkol,Sirivipa, AU - Wells,Dagan, AU - Kunaviktikul,Chairat, AU - Tongsong,Theera, AU - Chaovisitsaree,Somsak, AU - Saetung,Rattika, AU - Sanguansermsri,Torpong, PY - 2006/8/3/pubmed PY - 2006/9/13/medline PY - 2006/8/3/entrez SP - 918 EP - 27 JF - Journal of the Medical Association of Thailand = Chotmaihet thangphaet JO - J Med Assoc Thai VL - 89 IS - 7 N2 - OBJECTIVES: Preimplantation Genetic Diagnosis (PGD) is an alternative to prenatal diagnosis providing couples the chance to start a pregnancy with an unaffected fetus. The objective of the present study was to develop and apply quick, sensitive and accurate single cell PCR protocols for PGD of beta-thalassemia and Down's syndrome detection. MATERIAL AND METHOD: Two couples carrying beta-thalassemia codon41-42 mutation underwent routine IVF procedures. Embryo biopsy was performed on Day-3 post-fertilisation and single cell multiplex fluorescent PCR was employed for mutation analysis, contamination detection and diagnosis of trisomy 21 cases. RESULTS: Seventeen embryos were tested in two clinical PGD cycles. This resulted in the first birth following PGD for a single gene disorder in Thailand and South East Asia, confirmed by prenatal testing. Two embryos were shown to be affected by Down's syndrome. CONCLUSION: Successful strategy for PGD of beta-thalassemia and Down's syndrome detection using multiplex fluorescent PCR was introduced. SN - 0125-2208 UR - https://www.unboundmedicine.com/medline/citation/16881421/A_successful_strategy_for_Preimplantation_Genetic_Diagnosis_of_beta_thalassemia_and_simultaneous_detection_of_Down's_syndrome_using_multiplex_fluorescent_PCR_ L2 - http://www.diseaseinfosearch.org/result/814 DB - PRIME DP - Unbound Medicine ER -