Screening for fetal aneuploidies at 11 to 13 weeks

Effective screening for major aneuploidies can be provided in the first trimester of pregnancy. Screening by a combination of fetal nuchal translucency and maternal serum free-β-human chorionic gonadotrophin and pregnancy-associated plasma protein-A can identify about 90% of fetuses with trisomy 21 and other major aneuploidies for a false-positive rate of 5%. Improvement in the performance of first-trimester screening can be achieved by firstly, inclusion in the ultrasound examination assessment of the nasal bone and flow in the ductus venosus, hepatic artery and across the tricuspid valve, and secondly, carrying out the biochemical test at 9 to 10 weeks and the ultrasound scan at 12 weeks. Copyright © 2011 John Wiley & Sons, Ltd.     

Congenital nephrotic syndrome presenting with increased nuchal translucency in the first trimester

Congenital nephrotic syndrome of the Finnish type (CNF) and diffuse mesangial sclerosis (DMS) are rare causes of renal failure in infants. We report two cases, one of each condition, presenting with increased nuchal translucency at the 11–14-week scan, and review the literature. Copyright © 2002 John Wiley & Sons, Ltd.     

Intrauterine growth retardation and fetal transverse cerebellar diameter

In 103 small-for-gestational age (SGA) fetuses, the transverse cerebellar diameter (TCD), abdominal circumference (AC), head circumference (HC), and femur length (FL) were measured and their ratios calculated. In addition, umbilical venous blood samples were obtained by cordocentesis for measurements of fetal blood pH and erythroblast count. Compared with the AC, HC, and FL, the TCD was relatively mildly reduced. However, in the 28 fetuses with TCD >2 SDs (standard deviations) below the normal mean, the degrees of growth retardation, acidaemia, and erythroblastosis were more severe, and the incidence of perinatal death was higher than in the group with a normal sized TCD. Although in the group with TCD >2 SDs below the normal mean the TCD/AC ratio was increased, in the most severely growth-retarded fetuses this ratio was usually within the normal range. Thus, in intrauterine growth retardation (IUGR), cerebellar size is reduced in proportion to the severity of the disease and therefore the TCD cannot be used to obtain reliable information on the gestational age of small fetuses and the TCD/AC ratio does not provide reliable information as to whether or not fetuses are growth-retarded.