Cost effectiveness of DNA diagnosis for four monogenic diseases.
نویسندگان
چکیده
منابع مشابه
Cost effectiveness of DNA diagnosis for four monogenic diseases.
In this paper the costs and benefits associated with DNA diagnosis of subjects who are at risk of having a child with a monogenic disease and who seek genetic counselling because of their reproductive plans are predicted under various assumptions using a mathematical model. Four monogenic diseases have been considered: cystic fibrosis, Duchenne muscular dystrophy, myotonic dystrophy, and fragil...
متن کامل[Preimplantation genetic diagnosis of monogenic diseases].
Preimplantation genetic diagnosis (PGD) is an alternative to prenatal diagnosis allowing the detection of genetic diseases on IVF embryos before their transfer into the uterus and before the pregnancy. The aim of this procedure is to obtain unaffected or carrier embryos in order to avoid the burden of termination of pregnancy after prenatal diagnosis for couples at risk of transmitting particul...
متن کاملClinical Considerations of Preimplantation Genetic Diagnosis for Monogenic Diseases
PURPOSE The aim of this study was to explore factors contribute to the success of PGD cycles for monogenic diseases. METHODS During a 3-year period (January 2009 to December 2012), 184 consecutive ICSI-PGD cycles for monogenic diseases reaching the ovum pick-up and fresh embryo-transfer stage performed at the Reproductive Medicine Center of The First Affiliated Hospital Of Sun Yat-sen Univers...
متن کاملMonogenic autoinflammatory diseases.
During the past 15 years, a growing number of monogenic inflammatory diseases have been described and their respective responsible genes identified. The proteins encoded by these genes are involved in the regulatory pathways of inflammation and are mostly expressed in cells of the innate immune system. Diagnosis remains clinical, with genetic confirmation where feasible. Although a group of pat...
متن کاملBlastocyst biopsy and vitrification are effective for preimplantation genetic diagnosis of monogenic diseases.
STUDY QUESTION What is the value of a new strategy for preimplantation genetic diagnosis (PGD) of monogenic diseases: blastocyst biopsy, cryopreservation and thawed embryo transfer? SUMMARY ANSWER This strategy is highly effective for PGD of monogenic diseases and merits wide use. WHAT IS KNOWN ALREADY PGD of monogenic diseases is conventionally performed on 6- to 8-cell embryos with fresh ...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1997
ISSN: 1468-6244
DOI: 10.1136/jmg.34.9.741