O-060. Difficult requests for preimplantation diagnosis
نویسندگان
چکیده
منابع مشابه
O-27: Preimplantation Genetic Diagnosis in Prevention of Genetic Diseases -Diagnostic of Spinal Muscular Atrophy (SMA)
Background: Preimplantation genetic diagnosis - PGD is currently an established procedure allowing genetic research of oocyte or embryo before implantation to the uterus. Spinal muscular atrophy (SMA) is a neurodegenerative disorder, being the second most common lethal autosomal recessive disease in Caucasians, after cystic fibrosis. There are three clinically different types of which type I (W...
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BACKGROUND In this paper, we review our clinical preimplantation genetic diagnosis (PGD) programme for fragile Xa syndrome, analysing if PGD for these couples is still a valuable option, as it is particularly difficult for two reasons. First, the couples have to be informative (the number of triplet repeats on the healthy FMR-1 allele of the mother has to be different from the number of repeats...
متن کاملNeonatal Appendicitis: Difficult Diagnosis with Enterocolitis
The clinical presentation of appendicitis in the newborn is nonspecific. The diagnosis was always made after surgical exploration for acute abdominal findings mimicking necrotizing enterocolitis. We report the case of acute appendicitis in a newborn diagnosed intraoperatively after neonatal occlusion symptoms.
متن کاملPreimplantation Genetic Diagnosis
Inherited genetic diseases have been a problem for some families attempting to conceive a child. If affected parents or carriers of genetic disorders wished to avoid transmitting a condition to their child, they can choose to have prenatal diagnosis of their foetus. Amniocentesis or chorionic villus sampling enables cells from the foetus to be collected and sent for genetic analysis. They could...
متن کاملPreimplantation Genetic Diagnosis (PGD)
Preimplantation genetic diagnosis (PGD) is a reproductive technology used with an in vitro fertilization (IVF) cycle to increase the potential for a successful pregnancy and delivery. The most common applications for PGD include testing for extra or missing chromosomes (aneuploidy screening), familial structural chromosome rearrangements, and diagnosis of genetic disease in couples of increased...
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ژورنال
عنوان ژورنال: Human Reproduction
سال: 1997
ISSN: 1460-2350,0268-1161
DOI: 10.1093/humrep/12.suppl_2.27-a