Comments Re a) After individual genetic counseling with regard to the risk of miscarriage caused by the invasive procedure and the risk of fetal chromosomal abnormality, every pregnant woman/couple decides whether an amniocentesis should be performed. From a strictly medical point of view, it is desirable that the risk of chromosomal abnormality be at least as high as that of miscarriage caused...

Chor ion ic v i l l us sampl ing (CVS) i s a technique for prenatal diagnosis of the fetal karyotype through cytogenetic analysis, and of Mendelian inherited diseases through molecular or biochemical analysis. Because the sampling technique can be performed in the first-trimester of pregnancy and diagnostic results can be obtained earlier than with amniocentesis, it has been utilized by clinici...

Prenatal karyotyping was undertaken in 569 consecutive amniotic fluid samples where the indication for amniocentesis was two sequential raised maternal serum alpha-fetoprotein concentrations. In 475 successful cultures five chromosome abnormalities were found--four constitutional anomalies (47,XXY; 47,XYY; an inherited inv(8) (p23q11); and a de-novo translocation t(6;7) (p11;p22) and a culture-...

Greater use of genetic amniocentesis in the Eastern Ontario region occurred once the results from the various national trials were published. Acceptance also paralleled an increase in the number of low parity older women having children and the centralisation and greater publicity given to our programme in the late 1970s. A centralised approach has had the positive effects of preventing unneces...

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...