Intense research has been carried out into methods that aim at harvesting fetal cells from maternal blood as substitutes to amniocentesis and chorionic villus sampling. Although much has been accomplished using well established techniques, a rapid and inexpensive method to separate fetal cells with great accuracy and efficiency to maximize cell yield is still required. This work focuses on the ...

Objective. To compare the difference of imprinting status of insulin-like growth factor II (IGF-II) gene in villus between normal embryo development group and abnormal embryo development group and to investigate the relationship between karyotype and the imprinting status of IGF-II gene. Methods. A total of 85 pregnant women with singleton pregnancy were divided into two groups: one with abnorm...

Résultats : La littérature publiée a été récupérée par l’intermédiaire de recherches menées dans Medline, CINAHL et The Cochrane Library au moyen d’un vocabulaire contrôlé (p. ex. « amniocentesis », « chorionic villus sampling », « cordocentesis », « fetal and neonatal infection ») et de mots clés (p. ex. « hepatitis B », « hepatitis C », « HIV ») appropriés. Les résultats ont été restreints au...

OBJECTIVE To evaluate fetal aortic Doppler for the prenatal diagnosis of hemoglobinopathies in the first trimester of pregnancy. MATERIALS AND METHODS Between January and November 2014, a total of 108 patients were enrolled in the study. The couples were carriers of either alpha/beta thalassemia, sickle cell disease or combined carriers of these and were admitted to Çukurova University Facult...

In the past few years considerable attention has been given to a relatively new method of prenatal diagnosis known as chorionic villus sampling (CVS). Because CVS can be performed in the first trimester it is hailed by many as a significant advance over amniocentesis. What has not been as publicized, however, are the disadvantages of CVS and earlier prenatal diagnosis. The emotional costs of CV...

The Danish National Board of Health recommended in 2004 routine ultrasound scanning in week 12 with nuchal translucency measurement, combined with the double test to all pregnant women. Those who were found to have a risk of trisomy 21 higher than 1:300 were offered amniocentesis or chorionic villus sampling (CVS). The total number of pregnancies in Denmark with an invasive prenatal procedure d...

Second trimester screening for Down's syndrome is widely practised throughout the world. We assessed the performance of antenatal serum screening for Down's syndrome with the quadruple test in 46193 pregnancies from 14 hospitals over 5 years. Women who screened positive (risk > or =1 in 300) were offered diagnostic amniocentesis or chorionic villus sampling. Of 88 observed Down's syndrome pregn...

Chorionic villus sampling (CVS) or amniocentesis for fetal sex determination is generally the first step in the prenatal diagnosis of X-linked genetic disorders such as Duchenne muscular dystrophy (DMD). However, non-invasive prenatal diagnostic (NIPD) techniques such as measurement of cell-free fetal DNA (cffDNA) in maternal plasma are preferable given the procedure-related miscarriage rate of...

Glycogen storage disease type II (GSD II/glycogenosis type II/Pompe's disease/acid maltase deficiency) is caused by the deficiency of lysosomal alpha-glucosidase resulting in lysosomal accumulation of glycogen. The disease is inherited as an autosomal recessive trait and is clinically heterogeneous. Early and late onset phenotypes are distinguished. Insight in the molecular nature of the lysoso...

We have constructed a Bayesian influence diagram and implemented an analytic framework to recommend strategies for selecting prenatal diagnostic tests and deciding whether to terminate a pregnancy based on their results. Our model is an improvement over previous applications of decision analysis to prenatal testing because it includes multiple diseases (Down’s syndrome, neural-tube defects, cys...