Non-invasive prenatal testing (NIPT) is a technique first developed in the early 1990’s that enables testing of a fetus for genetic conditions, based on a sample of maternal blood [1]. Small fragments of extracellular DNA from both mother and fetus are present in maternal plasma, and by excluding fragments of maternal origin, the fetus can be tested for sex, aneuploidy and some specific genetic...

OBJECTIVE To examine the possible association between high fetal nuchal translucency thickness (NT) and pathogenic chromosomal copy number variants (CNVs) detected by array comparative genomic hybridization (CGH) in pregnancies with normal fetal karyotype. METHODS Array CGH was carried out in stored samples of chorionic villi from 215 singleton pregnancies resulting in live births in which ch...

Of all congenital anomalies, limb reduction defects maintain a high profile with the public. In the early 1960s, high rates of limb reductions were associated with expectant mothers taking the drug thalidomide. As a result of this, congenital anomaly surveillance systems were established to try and prevent further such episodes. In the late 1980s limb reductions were found to be associated with...

Trisomy 9 is a rare chromosomal abnormality with a very poor prognosis depending mostly on the amount and exact location of the duplicated genetic material. Most of the fetuses with complete trisomy 9 are spontaneously aborted in the early first trimester and therefore it is uncommonly seen at the time of 11-14 weeks’ scan. The diagnosis is usually made after fetal karyotyping performed for rou...

Transabdominal chorionic villus biopsy is an established method of obtaining material for analysing fetal chromosomes in the first trimester of pregnancy but has not been widely used for karyotyping in the second and third trimesters, when rapid results are required. The technique was evaluated in two groups of patients, comprising 106 at risk of having a fetus with chromosomal anomalies (105) ...

The fragile X syndrome, an X linked mental retardation syndrome, is caused by an expanded CGG repeat in the first exon of the FMR1 gene. In patients with an expanded repeat the FMR1 promoter is methylated and, consequently, the gene is silenced and no FMR1 protein (FMRP) is produced, thus leading to the clinical phenotype. Here we describe a prenatal diagnosis performed in a female from a fragi...