Birth of two healthy females after preimplantation genetic diagnosis for familial amyloid polyneuropathy

Reproductive BioMedicine Online

Volumn 10, Issue 5, 2005, Pages 641-644

  Almeida, V M ^a,c   Costa, P M ^b   Moreira, P ^b   Goncalves J ^a   Braga, J ^a  

^a Centro de Estudos de Infertilidade e Esterilidade   (Portugal)

^b HOSPITAL DE SANTO ANTÓNIO   (Portugal)

^c UNIVERSITY OF PORTO   (Portugal)

Author keywords

Familial amyloid polyneuropathy; Preimplantation genetic diagnosis

Indexed keywords

PREALBUMIN;

ADULT; AMNIOCENTESIS; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BLASTOMERE; CASE REPORT; EMBRYO; EMBRYO TRANSFER; FAMILIAL AMYLOID POLYNEUROPATHY; FEMALE; FLUORESCENCE; GENE; GENE MUTATION; GESTATIONAL AGE; HUMAN; HUMAN TISSUE; INTRACYTOPLASMIC SPERM INJECTION; LYMPHOCYTE; POLYMERASE CHAIN REACTION; PREIMPLANTATION EMBRYO; PRENATAL DIAGNOSIS; TRANSTHYRETIN GENE; TWIN PREGNANCY;

EID: 18444397475     PISSN: 14726483     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1472-6483(10)61672-0     Document Type: Article

References (21)

1. Alves IL, Altland K, Almeida MR et al. 1997 Transthyretin variants in the Portuguese population. Human Mutation 9, 226-233.
2. Connors LH, Lim A, Prokaeva T, Roskens VA, Costello CE 2003 Tabulation of human transthyretin (TTR) variants. Amyloid 10, 160-184.
3. ESHRE PGD Consortium Steering Committee 2002 ESHRE preimplantation genetic diagnosis consortium: data collection III (May 2001). Human Reproduction 17, 233-246.
4. Gianaroli L, Magli MC, Ferraretri AP, Munné S 1999 Preimplantation diagnosis for aneuploidies in patients undergoing in vitro fertilization with a poor prognosis: identification of the categories for which it should be proposed. Fertility and Sterility 72, 837-844.
5. Handyside AH, Kontongianni EH, Hardy K 1990 Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature 344, 768-770.
6. Handyside AH, Robinson MD, Simpson RJ et al. 2004 Isothermal whole genome amplification from single and small numbers of cells: a new era for preimplantation genetic diagnosis of inherited disease. Molecular Human Reproduction 10, 767-772.
7. Holmgren G, Costa PM, Andersson C et al. 1994 Geographical distribution of TTR met30 carriers in northern Sweden: discrepancy between carrier frequency and prevalence rate. Journal of Medical Genetics 31, 351-354.
8. Iacobelli M, Greco E, Rienzi I et al. 2003 Birth of a healthy female after preimplantation genetic diagnosis for Charcot-Marie-Tooth type X. Reproductive BioMedicine Online 7, 558-562.
9. Kuliev A, Verlinsky Y 2002 Current features of preimplantation genetic diagnosis, Reproductive BioMedicine Online 5, 294-299.
10. Lobato L 2003 Portuguese-type amyloidosis (transthyretin amyloidosis, ATTR V30M). Journal of Nephrology 16, 438-442.
11. Meuer S, Wittwer C, Nakaguwara K (eds) 2001 Rapid Cycle Real-Time PCR: Methods and Applications. Springer-Verlag, Berlin.
12. Pierce KE, Rice JE, Sanchez JA et al. 2000 Real-time PCR using molecular beacons for accurate detection of the Y chromosome in single human blastomeres. Molecular Human Reproduction 6, 1155-1164.
13. Pierce KE, Rice JE, Sanchez JA, Wangh L 2003 Detection of cystic fibrosis alleles from single cells using molecular beacons and a novel method of asymmetric real-time PCR. Molecular Human Reproduction 9, 815-820.
14. Placido GD, Wilding M, Strina I et al. 2002 High outcome predictability after IVF using a combined score for zygote and embryo morphology and growth rate. Human Reproduction 17, 2402-2409.
15. Rice JE, Sanchez JA, Pierce KE, Wangh LJ 2002 Real-time PCR with molecular beacons provides a highly accurate assay for detection of Tay-Sachs alleles in single cells. Prenatal Diagnosis 22, 1130-1134.
16. Sermon K, Lissens W, Joris H et al. 1996 Adaptation of the primer extension preamplification (PEP) reaction for preimplantation diagnosis: single blastomere analysis using short PEP protocols. Molecular Human Reproduction 2, 209-212.
17. Sermon K, Van Steirteghem A, Liebaers I 2004 Preimplantation genetic diagnosis. Lancet 363, 633-641.
18. Thornhill AR, Snow K 2002 Molecular diagnostics in preimplantation genetic diagnosis. Journal of Molecular Diagnostics 4, 11-29.
19. Vrettou C, Traeger-Synodinos J, Tzetis M et al. 2004 Real-time PCR for single-cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable, and widely applicable protocol for preimplantation genetic diagnosis. Human Mutation 23, 513-521.
20. Wells D, Sherlock JK, Handyside AH, Delhanty JDA 1999 Detailed chromosomal and molecular genetic analysis of single cells by whole genome amplification and comparative genomic hybridization. Nucleic Acids Research 27, 1214-1218.
21. Wittwer CT, Ririe KM, Andrew RV et al. 1997 The LightCycler™: a microvolume, multisample fluorimeter with rapid temperature control Biotechniques 22, 176-181.