Preimplantation Genetic Diagnosis T he opportunity to exclude in-vitro derived embryos with documented genetic abnormalities before the initiation of pregnancy is an attractive means of preventing heritable genetic disease. Currently couples who are carriers of genetic disease have the option of undergoing chorionic villus sampling in the first trimester or amniocentesis in the second trimester...

BACKGROUND Originally a binary classifier, Lot Quality Assurance Sampling (LQAS) has proven to be a useful tool for classification of the prevalence of Schistosoma mansoni into multiple categories (≤10%, >10 and <50%, ≥50%), and semi-curtailed sampling has been shown to effectively reduce the number of observations needed to reach a decision. To date the statistical underpinnings for Multiple C...

The trends in prenatal diagnosis of enzyme defects predicted last year,' namely an increase in diagnosis in the first trimester by chorionic villus sampling and early amniocentesis and greater exploitation of DNA analysis and the diagnosis of genetic errors in preimplantation embryos, have been fulfilled. These developments were also reflected in the papers presented at the 5th International Co...

Carriers of haemophilia face difficult choices regarding prenatal diagnosis, but little is known about the determinants that influence their decisions. The aim of this study was to assess the incidence of prenatal diagnosis and potential determinants affecting the choice for prenatal diagnosis. A nationwide survey was performed among all women who underwent carriership testing for haemophilia i...

Chromosomal abnormalities are major causes of perinatal death and childhood handicap. Consequently, the detection of chromosomal disorders constitutes the most frequent indication for invasive prenatal diagnosis. However, invasive testing, by amniocentesis, chorionic villus sampling (CVS) or cordocentesis, is associated with a risk of miscarriage of about 1% and therefore these tests are carrie...

The management of twin pregnancies discordant for trisomy 21 is dependent on the gestation at diagnosis, chorionicity, and parental preference. Our experience with the management of 15 cases in 1,839 twin pregnancies over a 12-year period is described. Selective termination is not always associated with a successful outcome for the normal co-twin. Two of the three monochorionic twin pregnancies...

BACKGROUND Prenatal diagnosis involves methods used in early pregnancy as either screening tests or diagnostic methods. The aims of the study were to i) investigate guidelines on prenatal diagnosis in the counties of Sweden, ii) investigate uptake of prenatal diagnosis, and iii) background characteristics and pregnancy outcomes in relation to different prenatal diagnostic methods. METHODS A r...