OBJECTIVE To assess the potential performance of screening for fetal trisomies 21, 18 and 13 by cell-free DNA (cfDNA) analysis of maternal blood using the IONA® test. METHODS This was a nested case-control study of cfDNA analysis of maternal plasma using the IONA test. Samples were obtained at 11-13 weeks' gestation, before chorionic villus sampling, from 201 euploid pregnancies, 35 with tris...

Partial Trisomy 9q is a unique chromosomal anomaly with a distinctive phenotype. Only 5 cases have been reported in the literature till now. A large family with four affected children was studied in detail and was compared with the five previously reported cases. Determination of this novel balanced translocation in their family had helped us to offer prenatal diagnosis. This presentation is un...

OBJECTIVE To define the relative position of the maxilla and mandible in fetuses with trisomy 18 at 11 + 0 to 13 + 6 weeks of gestation. METHODS A three-dimensional (3D) volume of the fetal head was obtained before karyotyping at 11 + 0 to 13 + 6 weeks of gestation in 36 fetuses subsequently found to have trisomy 18, and 200 chromosomally normal fetuses. The frontomaxillary facial (FMF) angle...

OBJECTIVES To investigate the potential value of choroid plexus cyst, intracardiac echogenic focus, hydronephrosis and hyperechogenic bowel as markers of trisomy 21 at 11 + 0 to 13 + 6 weeks. METHODS We examined three-dimensional volumes from 228 fetuses with trisomy 21 and 797 chromosomally normal fetuses at 11 + 0 to 13 + 6 weeks of gestation. We looked for choroid plexus cysts with a minim...

OBJECTIVE To determine the possible association between single umbilical artery (SUA) at 11-14 weeks of gestation and the incidence of chromosomal abnormalities. METHODS Color flow imaging of the fetal pelvis was used to determine the number of umbilical arteries in 717 fetuses immediately before chorionic villus sampling for karyotyping at 11-14 weeks' gestation. RESULTS Single umbilical a...

The paper deals with an analysis of digito-palmar dermatoglyphics with the parents of 54 children with Trisomy 21 (Down Syndrome) studied before [15]. The results obtained confirm the data found in the foreign specialised literature according to which many of the dermatoglyphic malformations present at children with Trisomy 21 can also be found to their apparently healthy parents but in a small...

OBJECTIVE To determine whether the major chromosomal abnormalities are associated with impaired placentation in the first trimester of pregnancy. METHODS This was a prospective study of 692 singleton pregnancies undergoing fetal karyotyping at 11-14 weeks of gestation. Uterine artery Doppler was carried out and the mean pulsatility index was calculated just before chorionic villus sampling. ...