scholarly journals Multiple aneuploidies in the oocytes of balanced translocation carriers: a preimplantation genetic diagnosis study using first polar body

Reproduction ◽  
2003 ◽  
pp. 701-711 ◽  
Author(s):  
A Pujol ◽  
M Durban ◽  
J Benet ◽  
I Boiso ◽  
JM Calafell ◽  
...  
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Polar Body ◽  
Genetic Diagnosis ◽  
Single Embryo Transfer ◽  
Balanced Translocation ◽  
Aneuploidy Screening ◽  
Robertsonian Translocations ◽  
Polar Bodies ◽  
First Polar Body ◽  
Made In

Preimplantation genetic diagnosis (PGD) of first polar bodies (1PBs) has been used in carriers of balanced chromosomal reorganizations and also for aneuploidy screening. Although an acceptable number of normal or balanced embryos is usually obtained using PGD in translocation carriers, the pregnancy rate is disappointingly low. To determine whether aneuploidy of chromosomes not involved in the chromosome rearrangements could be the cause of the low pregnancy rates achieved, the present authors analysed the segregation products of three translocation carriers, t(8;13)(q24.1;q22) and two Robertsonian (Rob)(13;14), using 1PBs, and afterwards another eight chromosomes in the same 1PBs, for a total of 10 chromosomes in each 1PB, that is chromosomes 1, 8, 13, 14, 15, 16, 17, 18, 21, 22 and X. In the reciprocal translocation, chromosomes with different chromatids due to meiotic recombination were found. Only one out of nine 1PBs was normal for the reorganization products but no aneuploidies were found after PGD in this case. In the two balanced Rob(13;14), six out of 12 and four out of 11 1PBs were normal or balanced for the reorganization but only one oocyte was euploid for all the chromosomes analysed in each case; a single embryo transfer was made in both but no pregnancy was achieved. The incidence of aneuploidy for the chromosomes not involved in the Robertsonian translocations was extremely high (91.7% and 81.8%). Extra chromosomes were present in most of the aneuploid oocytes (81.8% and 90%). The reason for this increase could be the tendency to non-disjunction related to advanced maternal age combined with an interchromosomal effect resulting in the presence of synaptic errors in other chromosome pairs.

scholarly journals Preimplantation Genetic Diagnosis—An Overview

2005 ◽  
Vol 53 (3) ◽  
pp. 255-260 ◽  
Author(s):  
Caroline Mackie Ogilvie ◽  
Peter R. Braude ◽  
Paul N. Scriven
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Genetic Diagnosis ◽  
Sex Selection ◽  
Hla Typing ◽  
Success Rates ◽  
Aneuploidy Screening ◽  
Reciprocal Translocations ◽  
Public Controversy ◽  
Polar Bodies ◽  
Monogenic Diseases

Since the early 1990s, preimplantation genetic diagnosis (PGD) has been expanding in scope and applications. Selection of female embryos to avoid X-linked disease was carried out first by polymerase chain reaction, then by fluorescence in situ hybridization (FISH), and an ever-increasing number of tests for monogenic diseases have been developed. Couples with chromosome rearrangements such as Robertsonian and reciprocal translocations form a large referral group for most PGD centers and present a special challenge, due to the large number of genetically unbalanced embryos generated by meiotic segregation. Early protocols used blastomeres biopsied from cleavage-stage embryos; testing of first and second polar bodies is now a routine alternative, and blastocyst biopsy can also be used. More recently, the technology has been harnessed to provide PGD-AS, or aneuploidy screening. FISH probes specific for chromosomes commonly found to be aneuploid in early pregnancy loss are used to test blastomeres for aneuploidy, with the aim of replacing euploid embryos and increasing pregnancy rates in groups of women who have poor IVF success rates. More recent application of PGD to areas such as HLA typing and social sex selection have stoked public controversy and concern, while provoking interesting ethical debates and keeping PGD firmly in the public eye.

scholarly journals Polar Body Diagnosis for Hemophilia A Using Multiplex PCR for Linked Polymorphic Markers

2005 ◽  
Vol 53 (3) ◽  
pp. 277-280 ◽  
Author(s):  
Diana Tomi ◽  
Georg Griesinger ◽  
Askan Schultze-Mosgau ◽  
Juliane Eckhold ◽  
Beate Schöpper ◽  
...  
Keyword(s):  
Multiplex Pcr ◽  
Preimplantation Genetic Diagnosis ◽  
Hemophilia A ◽  
Polar Body ◽  
Genetic Diagnosis ◽  
Polymorphic Markers ◽  
Polar Bodies ◽  
Fluorescent Pcr ◽  
Polar Body Diagnosis

Preimplantation genetic diagnosis (PGD) is usually performed on blastomeres. In Germany, the only possibility to perform PGD is by analysis of polar bodies. We performed PGD using polar bodies in a woman who is a carrier of hemophilia A. Multiplex PCR followed by nested fluorescent PCR for five linked polymorphic markers was established. From 11 analyzed polar bodies, only 1 showed alleles linked to the mutation. The corresponding oocyte was transferred and no pregnancy was established. As seen in other investigations, the rate of heterozygous first polar bodies is surprisingly high.

Advantages of multiple markers and polar body analysis in preimplantation genetic diagnosis for Alagille disease

2007 ◽  
Vol 27 (4) ◽  
pp. 317-321 ◽  
Author(s):  
P. Renbaum ◽  
B. Brooks ◽  
Y. Kaplan ◽  
T. Eldar-Geva ◽  
E J. Margalioth ◽  
...  
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Polar Body ◽  
Genetic Diagnosis ◽  
Multiple Markers ◽  
Polar Body Analysis
Sign in / Sign up

Export Citation Format

Share Document