Preimplantation genetic diagnosis for sex-linked diseases and sex selection for non-medical reasons

2009 ◽  
pp. 230-236
Author(s):  
Caroline Mackie Ogilvie ◽  
Paul N. Scriven
2008 ◽  
Vol 17 (3) ◽  
pp. 293-299 ◽  
Author(s):  
RICHARD V. GRAZI ◽  
JOEL B. WOLOWELSKY ◽  
DAVID J. KRIEGER

We report here on recent developments in Israel on the issue of sex selection for nonmedical reasons by preimplantation genetic diagnosis (PGD). Sex selection for medical reasons (such as in cases of sex-linked genetic diseases) is generally viewed as uncontroversial and legal in European and American law. Its use for nonmedical reasons (like “balancing” the gender ratio in a family) is generally illegal in European countries. In the United States, it is not illegal, although in the opinion of the Ethics Committee of the American Society for Reproductive Medicine (ASRM), it is problematic. This position is undergoing reconsideration, albeit in a limited way.


2005 ◽  
Vol 53 (3) ◽  
pp. 255-260 ◽  
Author(s):  
Caroline Mackie Ogilvie ◽  
Peter R. Braude ◽  
Paul N. Scriven

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.


2006 ◽  
Vol 96 (12) ◽  
pp. 839-845 ◽  
Author(s):  
Jorge Sánchez-García ◽  
Dominique Gallardo ◽  
Joaquima Navarro ◽  
Carmen Márquez ◽  
Josep Gris ◽  
...  

SummaryPreimplantation genetic diagnosis (PGD) of hemophilia A (HA) and other X-linked diseases through sex selection implies that male embryos will be systematically discarded, even though 50% are unaffected. The objective of the present work was to develop a PGD protocol for direct mutation identification that could be applied to first polar bodies (1PBs) in several HA clinical cases. Single buccal cells from controls and patients, and 1PBs were subjected to primer extension preamplification (PEP) PCR followed by amplification of F8 gene coding and intronic flanking regions, and direct sequencing. Moreover, multiplex fluorescent amplification of four short tandem repeats was adapted to a single cell preamplification in order to rule out contamination and allele drop-out, and for confirmatory indirect diagnosis. A couple at risk of HA transmission, with a familial mutation characterized as a 41-bp duplication in exon 14 of the F8 gene, was selected for the first clinical study. After optimizing the protocol, the complete F8 gene coding sequence was obtained from single cells to demonstrate the sensitivity of our methodology although in any clinical case only the relevant region, not the whole gene, must be amplified. The woman enrolled in the first clinical case has completed the first in-vitro fertilization cycle, and seven oocytes were analyzed with concordant results by both linkage analysis and direct sequencing method. Only one oocyte, among those diagnosed as mutation free, developed to embryo at day 3. It was transferred but pregnancy was not achieved. This PGD procedure enables non-affected and noncarrier embryo selection in families with any point or smallrange mutation in the F8 gene, without the need for further custom-made modifications.


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