Proposal for standardized prenatal ultrasound assessment of the fetus with congenital diaphragmatic hernia by the European reference network on rare inherited and congenital anomalies (ERNICA)

Congenital diaphragmatic hernia is a rare disease associated with high mortality and morbidity. Antenatal ultrasound screening identifies more than 70% of cases, providing the opportunity for in utero referral to a tertiary care center for expert assessment and perinatal management. Additional genetic and morphologic assessment may be used to rule out associated anomalies. In isolated cases, the outcome may be predicted prenatally by medical imaging. The combination of lung size and liver herniation is a widely accepted method to stratify fetuses into groups with an increasing degree of pulmonary hypoplasia and corresponding mortality rates. Ultrasound measurement of the observed to expected lung-to-head ratio (o/e LHR) is most widely used. The o/e LHR is an independent predictor of survival and short-term morbidity. Finally, evaluation of stomach position has recently been introduced as an indirect method to estimate severity of the disease in left-sided defects, as it has been shown to correlate with the proportion of intrathoracic liver. Herein, we propose a protocol for the standardized ultrasound assessment of fetuses with isolated CDH and individualized prediction of neonatal outcome.     

Normal sonographic development of the central nervous system from the second trimester onwards using 2D, 3D and transvaginal sonography

The developmental changes of the fetal central nervous system (CNS) during the second and third trimesters, specifically the brain, relate mostly to changes in size. However, other changes do occur in the fetal brain during the second and third trimester such as: the union of the cerebellar hemispheres, development of the corpus callosum (CC), and increasing complexity of the cerebral cortex. These changes follow a well-defined developmental timeline recognizable by sonography. The fetal neuroscan can be divided into a ‘basic scan’ which is performed transabdominally and a ‘targeted Exam or neurosonogram’ which uses a multiplanar approach, which preferably should be performed transvaginally. During the ‘basic scan’, several brain structures are imaged in addition to obtaining important biometric measurements. The ‘neurosonogram’ is a more extensive or detailed fetal study during which the emphasis is on the addition of coronal and sagittal planes. The easiest way to obtain these planes, if the fetus is in a cephalic presentation, is the transvaginal route. Three-dimensional (3D) sonography should, if possible, be performed transvaginally using the multiplanar approach. An added benefit of 3D sonography is the ability to display and render the volume in a variety of ways which may enhance the detection of pathology. Copyright © 2008 John Wiley & Sons, Ltd.     

Rapid molecular prenatal diagnosis of ataxia-telangiectasia by direct mutational analysis

Mutations of the ataxia-telangiectasia-mutated (ATM) gene are responsible for the autosomal recessive disorder ataxia-telangiectasia (A-T). This study reports the first A-T prenatal diagnosis performed in Spain by direct molecular analysis. The pregnant woman had a previous child suffering from A-T due to a deletion in the ATM gene. The ATM coding region was sequenced in the A-T patient and her parents. Then, a specific polymerase chain reaction (PCR) to detect the deletion was performed for prenatal diagnosis. Additionally, polymorphic HLA loci were examined in order to exclude the possible contamination by maternal DNA. In this family of Gypsy origin, we carried out a rapid molecular diagnosis of A-T. Then, a prenatal diagnosis was carried out, identifying the deletion in the fetal DNA. Additionally, we performed a population study in unrelated Spanish Gypsies and in unrelated controls, showing that the deletion described could be a hotspot in the Spanish Gypsy population. The size of the coding region and the genomic structure, together with the absence of hotspots, make the mutation screening of the ATM gene difficult. The ability to identify ATM mutations provides a tool that can be applied in confirmatory diagnosis, genetic counselling, carrier prediction and prenatal diagnosis. Copyright © 2007 John Wiley & Sons, Ltd.     

Effect of combined nitrogen on dinitrogen fixation and productivity in Pisum sativum L. Inoculated with different strains of Rhizobium

This growth chamber study was designed to determine rates of nitrogen fixation, growth, productivity and concentrations of nitrogen and phosphorus during vegetative growth, flowering and the beginning of the fruiting and ripening period in Pisum sativum plants supplied with different concentrations of nitrate and nodulated by various strains of Rhizobium leguminosarum. Noninoculated control plants were grown under the same nutritional conditions. Nodulated and unnodulated plants responded differently to treatment. The effects of inoculation with Rhizobium and the nitrate treatments on the parameters of growth and nitrogen content varied with plant age. Although the presence of nitrate in the culture medium inhibited nodulation and acetylene reducing activity (ARA), the different Rhizobium strains used in the inoculations led to variations in tolerance to combined nitrogen.