First pregnancy and life after preimplantation genetic diagnosis by polar body analysis for mucopolysaccharidosis type I
نویسندگان
چکیده
منابع مشابه
Polar body-based preimplantation genetic diagnosis for Mendelian disorders.
Introduced >20 years ago, the use of polar bodies (PBs), involving sequential removal and genetic analysis of the first (PB1) and second (PB2) PB, provides the option for pre-embryonic diagnosis, when the objection to the embryo biopsy procedures makes preimplantation genetic diagnosis (PGD) non-applicable. PB-based approach has presently been utilized in PGD for genetic and chromosomal disorde...
متن کاملPregnancy after preimplantation genetic diagnosis for Charcot-Marie-Tooth disease type 1A.
Charcot-Marie-Tooth (CMT) disease type 1A is an autosomal dominant peripheral neuropathy characterized by slow progressive distal muscle wasting and weakness, and decreased nerve conduction velocities. Most CMT1A cases (>98%) are caused by a duplication of a 1.5 Mb region on the short arm of chromosome 17 containing the PMP22 gene. A couple with a previous history of CMT followed by termination...
متن کاملFirst clinical application of comparative genomic hybridization and polar body testing for preimplantation genetic diagnosis of aneuploidy.
OBJECTIVE To develop a preimplantation genetic diagnosis (PGD) protocol that allows any form of chromosome imbalance to be detected. DESIGN Case report employing a method based on whole-genome amplification and comparative genomic hybridization (CGH). SETTING Clinical IVF laboratory. PATIENT(S) A 40-year-old IVF patient. INTERVENTION(S) Polar body and blastomere biopsy. MAIN OUTCOME M...
متن کاملWhat next for preimplantation genetic screening? A polar body approach!
Screening of human preimplantation embryos for numerical chromosome abnormalities has been conducted mostly at the preimplantation stage using fluorescence in situ hybridization. However, it is clear that preimplantation genetic screening (PGS) as it is currently practiced does not improve live birth rates. Therefore the ESHRE PGS Task Force has decided to start a proof of principle study with ...
متن کاملI-36: Preimplantation Genetic Diagnosis - Where Have We Been and Where Are We Going
Preimplantation genetic diagnosis (PGD) is now considered routine in IVF laboratories with micromanipulation capability and access to genetic diagnostic services. The past two decades have witnessed a dramatic increase in the use of PGD, the number of cycles performed, and the indications for which PGD has been used. This increase has been mirrored by a slow, but steady, increase in the range o...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Reproductive BioMedicine Online
سال: 2006
ISSN: 1472-6483
DOI: 10.1016/s1472-6483(10)60864-4