BACKGROUND A Disintegrin And Metalloprotease 12 (ADAM 12) is a glycoprotein synthesised by placenta and it has been shown to be a potential first-trimester maternal serum marker for Down syndrome (DS) in two small series. Here we analyse further, the potential of ADAM 12 as a marker for DS in a large collection of first-trimester serum samples. MATERIALS AND METHODS The concentration of ADAM ...

Objectives: The aim of this study was to examine the prevalence of major and minor anomalies according to the increase of NT

Prenatal diagnosis of chromosomal disorders requires an invasive test in women regarded as being at high risk after screening. There is extensive evidence that effective screening for major chromosomal abnormalities can be provided in the first and second trimesters of pregnancy. With the association of some biochemical markers, it is possible to identify about 90% of chromosomal abnormalities....

Objectives. To determine the existence and extent of ethnic differences in 2D or 3D fetal frontomaxillary facial angle (FMFA) measurements. Methods. During routine 11-14 weeks nuchal translucency screening undertaken in a private ultrasound practice in Sydney, Australia, 2D images and 3D volumes of the fetal profile were collected from consenting patients. FMFA was measured on a frozen 2D ultra...

Noonan syndrome is a genetically heterogeneous condition primarily due to missense mutations in PTPN11. Prenatal diagnosis is typically made in a fetus with increased nuchal translucency and normal karyotype. We demonstrate the ability of whole exome sequencing to make prenatal diagnoses that would not have been made from phenotype alone.