BACKGROUND Primary infection with Toxoplasma gondii during pregnancy may pose a threat to the fetus. Women infected prior to conception are unlikely to transmit the parasite to the fetus. If maternal serology indicates a possible primary infection, amniocentesis for toxoplasma PCR analysis is performed and antiparasitic treatment given. However, discriminating between primary and latent infecti...

The presence of contaminating maternal cells in amniotic fluid is an important, though infrequent, cause of error in karyotyping the fetus. A method of detecting contaminating maternal cells in amniocentesis specimens by determining the HLA phenotype of the cells of amniotic fluid and the mother is described. Tissue typing of 15 amniocentesis specimens was performed, and in 14 cases the fetal o...

A case of de novo, apparently balanced, three way exchange by translocation plus a pericentric inversion is described. The karyotype is 46,XX,t(6;11)(p21;q21),t(11;21) (q21;p13),inv(6)(p21q11) and was ascertained through second trimester amniocentesis. The structural rearrangements appear balanced. The child was phenotypically normal at birth. Growth and motor development were normal until 30 m...

Objective: a fetus with a ring chromosome 20 is presented. Methods: at 16 weeks’ gestation, ultrasound examination evidenced no apparent structural malformation. Amniocentesis was performed for maternal anxiety. Results: chromosome analysis identified a ring chromosome 20 and array-CGH demonstrated that the ring including micro-deletion of the short arm in 20p13, that was extended for about 632...

The development of prenatal tests to detect structural and chromosomal abnormalities in single and multiple foetuses started some 30 years ago. The use of amniocentesis and analysis of amniotic fluid allowed obstetricians to detect and assess the severity of rhesus disease in the unborn child and decide on the need for early delivery. Today, numerous prenatal testing techniques, including mater...

A fetus with de novo ring chromosome 16 is presented. At 20 weeks' gestation, ultrasound examination demonstrated bilateral clubfoot, bilateral renal pyelectasis, hypoplasia of the corpus callosum, and transposition of the great vessel. Amniocentesis was performed. Chromosome analysis identified a ring chromosome 16 [47,XY,r(16)] and array comparative genomic hybridization (a-CGH) demonstrated ...