scholarly journals Blastocyst biopsy and vitrification are effective for preimplantation genetic diagnosis of monogenic diseases

2013 ◽  
Vol 28 (5) ◽  
pp. 1435-1444 ◽  
Author(s):  
L.-J. Chang ◽  
C.-C. Huang ◽  
Y.-Y. Tsai ◽  
C.-C. Hung ◽  
M.-Y. Fang ◽  
...  
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Genetic Diagnosis ◽  
Monogenic Diseases ◽  
Blastocyst Biopsy

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.

Preimplantation Genetic Diagnosis

2018 ◽  
Author(s):  
R. J McKinlay Gardner ◽  
David J Amor
Keyword(s):  
Older Women ◽  
Preimplantation Genetic Diagnosis ◽  
Genetic Diagnosis ◽  
Preimplantation Genetic Screening ◽  
Normal Embryo ◽  
Vitro Fertilization ◽  
Blastocyst Biopsy ◽  
Time Stage ◽  
Generation Sequencing

Preimplantation genetic diagnosis allows recognition of a genetically abnormal embryo in the laboratory, and enables the choice, in principle, of selecting a normal embryo for transfer to the uterus. The methodologies are outlined in this chapter, noting the move toward day-5 blastocyst biopsy as the preferred time/stage. Next-generation sequencing is also discussed. The distinction is made between targeted diagnosis, as for example in the setting of a parental rearrangement, and preimplantation genetic screening, which may be offered to older women or those who, in any event, need recourse to in vitro fertilization. The improved diagnostic precision due to molecular methodology is noted.

scholarly journals Clinical Considerations of Preimplantation Genetic Diagnosis for Monogenic Diseases

PLoS ONE ◽  
2015 ◽  
Vol 10 (9) ◽  
pp. e0139613 ◽  
Author(s):  
Xiaokun Hu ◽  
Jing Wang ◽  
Yubin Li ◽  
Yizi Wang ◽  
Chenhui Ding ◽  
...  
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Genetic Diagnosis ◽  
Monogenic Diseases ◽  
Clinical Considerations

Update on preimplantation genetic diagnosis and screening

2014 ◽  
Vol 155 (35) ◽  
pp. 1375-1382
Author(s):  
Tamás Kőrösi ◽  
Olga Török ◽  
Gábor Vajta
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Genetic Diagnosis ◽  
Human Embryos ◽  
Widespread Application ◽  
Parallel Methods ◽  
Blastocyst Biopsy ◽  
Late Transfer ◽  
New Situation ◽  
Human Embryology ◽  
Pregnancy And Birth

Recent advancement in both human embryology and genomics has created a completely new situation for practical and widespread application of preimplantation genetic diagnosis and screening with a dramatic effect on assisted reproduction. The mapping of the first human genome and the advancement in sequencing technology and bioinformatics has led to the discovery of the exact genetic background of exponentially increasing number of diseases. In parallel, methods for culturing human embryos have also radically improved, enabling the late transfer, and the procedure of vitrification the safe cryopreservation. In consequence, refined genetic analyses have become available from blastocyst biopsy followed by the application of novel genomic methods. Furthermore, some studies suggest that by the selection of aneuploid embryos the pregnancy- and birth-rates can be increased. The amount and the depth of information obtainable from the embryos raise several technical and ethical questions that can be answered by further prospective randomized trials. Orv. Hetil., 2014, 155(35), 1375–1382.

Can preimplantation genetic diagnosis be used for monogenic endocrine diseases?

2019 ◽  
Vol 32 (12) ◽  
pp. 1305-1310 ◽  
Author(s):  
Stephanie Yeager ◽  
Shilpa Mehta ◽  
Misha Sodhi ◽  
Bina Shah
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Evidence Synthesis ◽  
Genetic Diagnosis ◽  
Recessive Gene ◽  
Outcome Data ◽  
Endocrine Disorders ◽  
Medline Search ◽  
Live Births ◽  
Endocrine Diseases ◽  
Monogenic Diseases

Abstract Context Preimplantation genetic diagnosis (PGD) is currently used for over 400 monogenic diseases. Some endocrine conditions that occur due to monogenic defects are either life-threatening or can cause severe morbidities; thus, PGD may be an option to avoid the occurrence of such diseases. Evidence acquisition An initial search in PubMed/Medline search was done to identify monogenic endocrine conditions using appropriate search terms. Eleven articles (1999–2018) reported 15 cases using PGD for monogenic endocrine diseases performed at major reproductive centers. Clinical and outcome data of these cases were reviewed with respect to the number of PGD cycles, successful pregnancy rates, live births and their genetic status. Evidence synthesis Fifteen couples underwent 32 PGD cycles (one to nine per couple), of which 17 resulted in a pregnancy. Seven couples underwent a single PGD cycle. Four couples had successful pregnancies each resulting in live births, one couple had an unsuccessful pregnancy, one needed medical termination of pregnancy and the outcome data were not reported in one. The remaining eight couples underwent multiple PGD cycles (two to nine per couple) and all had successful pregnancies in at least one cycle resulting in 16 live births. Of the total live births, 60% were genetically unaffected and 40% were carriers of the autosomal recessive gene mutation. Conclusions PGD may be a potential tool for preventing the inheritance of severe monogenic endocrine diseases in future generations. Currently, the use of PGD in endocrine disorders is rare but provides a promising option on a case-by-case basis, provided the optimal resources are available.

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