Current controversies in prenatal diagnosis 1: screening for fragile X syndrome
β Scribed by Yaron, Yuval; Musci, Thomas; Cuckle, Howard
- Book ID
- 118765696
- Publisher
- John Wiley and Sons
- Year
- 2012
- Tongue
- English
- Weight
- 67 KB
- Volume
- 33
- Category
- Article
- ISSN
- 0197-3851
- DOI
- 10.1002/pd.3985
No coin nor oath required. For personal study only.
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## Objective: The objective of this study was to conduct an economic evaluation of routine prenatal carrier testing for fragile X syndrome. Methods: This economic analysis was conducted from the societal perspective. A cost-benefit equation was developed based on the premise that the cost of routi
The results of 30 prenatal diagnoses for fragile X syndrome are reported. Amniotic fluid cells were examined in 1 case, fetal blood in 4, and chorionic villi samples in the others. Of the 5 fetuses analyzed by cytogenetic methods, 1 had showed 4% of fraXq27.3 expression sites and the pregnancy was t
We reviewed the distribution of autosomal fragile sites (FS) and spontaneous chromosome breaks or gaps (CB) at chromosome locations other than those recognized as FS from 100 amniotic fluid samples (AF), 19 chorionic villus samples (CVS), and 5 percutaneous umbilical blood samples (PUBS) referred fo