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Experience in preimplantation genetic diagnosis for exclusion of homozygous alpha degrees thalassemia.
Prenat Diagn. 2006 Nov; 26(11):1029-36.PD

Abstract

OBJECTIVE

To report our experience in preimplantation genetic diagnosis (PGD) for the exclusion of homozygous alpha degrees thalassemia.

PATIENTS AND METHODS

PGD was performed on nine couples with alpha degrees thalassemia genotype undergoing assisted reproduction. Oocytes were aspirated after ovarian stimulation and fertilized by intracytoplasmic sperm injection. One or two blastomeres were biopsied from the six- to eight-cell embryo. Single cell multiplex PCR of the normal and alpha degrees thalassemia alleles was performed for first round, followed by semi-nested PCR of the respective alleles using 5'-end labelled fluorescent primers. Only those embryos with a blastomere diagnosed as having at least one normal allele were selected for transfer.

RESULTS

One hundred and twenty-six blastomeres from 82 embryos were analyzed. The rates of allele dropout was 10.2% and PCR failure 12.7%. Fifty-eight embryos (70.7%) had at least one normal allele, of which 31 were transferred to 13 prepared cycles and one triplet pregnancy achieved. The triplets showed no ultrasound features of homozygous alpha degrees thalassemia at 18 weeks and were delivered in healthy condition by caesarean section at 34 weeks. Their genotypes were confirmed by cord blood analysis.

CONCLUSIONS

PGD for alpha degrees thalassemia is possible by single cell PCR. The transfer and successful implantation of unaffected embryos ensure birth of disease-free babies.

Authors+Show Affiliations

University Department of Medicine, Queen Mary Hospital, Hong Kong. vnchana@hkucc.hku.hkNo 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

16941716

Citation

Chan, Vivian, et al. "Experience in Preimplantation Genetic Diagnosis for Exclusion of Homozygous Alpha Degrees Thalassemia." Prenatal Diagnosis, vol. 26, no. 11, 2006, pp. 1029-36.
Chan V, Ng EH, Yam I, et al. Experience in preimplantation genetic diagnosis for exclusion of homozygous alpha degrees thalassemia. Prenat Diagn. 2006;26(11):1029-36.
Chan, V., Ng, E. H., Yam, I., Yeung, W. S., Ho, P. C., & Chan, T. K. (2006). Experience in preimplantation genetic diagnosis for exclusion of homozygous alpha degrees thalassemia. Prenatal Diagnosis, 26(11), 1029-36.
Chan V, et al. Experience in Preimplantation Genetic Diagnosis for Exclusion of Homozygous Alpha Degrees Thalassemia. Prenat Diagn. 2006;26(11):1029-36. PubMed PMID: 16941716.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Experience in preimplantation genetic diagnosis for exclusion of homozygous alpha degrees thalassemia. AU - Chan,Vivian, AU - Ng,Ernest H Y, AU - Yam,Irene, AU - Yeung,William S B, AU - Ho,P C, AU - Chan,T K, PY - 2006/8/31/pubmed PY - 2007/2/28/medline PY - 2006/8/31/entrez SP - 1029 EP - 36 JF - Prenatal diagnosis JO - Prenat. Diagn. VL - 26 IS - 11 N2 - OBJECTIVE: To report our experience in preimplantation genetic diagnosis (PGD) for the exclusion of homozygous alpha degrees thalassemia. PATIENTS AND METHODS: PGD was performed on nine couples with alpha degrees thalassemia genotype undergoing assisted reproduction. Oocytes were aspirated after ovarian stimulation and fertilized by intracytoplasmic sperm injection. One or two blastomeres were biopsied from the six- to eight-cell embryo. Single cell multiplex PCR of the normal and alpha degrees thalassemia alleles was performed for first round, followed by semi-nested PCR of the respective alleles using 5'-end labelled fluorescent primers. Only those embryos with a blastomere diagnosed as having at least one normal allele were selected for transfer. RESULTS: One hundred and twenty-six blastomeres from 82 embryos were analyzed. The rates of allele dropout was 10.2% and PCR failure 12.7%. Fifty-eight embryos (70.7%) had at least one normal allele, of which 31 were transferred to 13 prepared cycles and one triplet pregnancy achieved. The triplets showed no ultrasound features of homozygous alpha degrees thalassemia at 18 weeks and were delivered in healthy condition by caesarean section at 34 weeks. Their genotypes were confirmed by cord blood analysis. CONCLUSIONS: PGD for alpha degrees thalassemia is possible by single cell PCR. The transfer and successful implantation of unaffected embryos ensure birth of disease-free babies. SN - 0197-3851 UR - https://www.unboundmedicine.com/medline/citation/16941716/Experience_in_preimplantation_genetic_diagnosis_for_exclusion_of_homozygous_alpha_degrees_thalassemia_ L2 - https://doi.org/10.1002/pd.1550 DB - PRIME DP - Unbound Medicine ER -