In utero therapy for lower urinary tract obstruction

Lower urinary tract obstruction has a significant impact on neonatal and child health. Pulmonary hyperplasia and renal impairment could be direct or indirect consequences of this condition leading to significant morbidity and mortality. Evaluation of fetuses with suspected lower urinary tract obstruction is performed not only to confirm the diagnosis but also to assess renal prognosis. Ultrasound examination and urinary analysis aid in the evaluation of these fetuses. The decision to perform fetal intervention in these cases is a difficult one. Vesico‒amniotic fetal shunting, open fetal surgery and more recently endoscopic fetal surgery for this condition are available as possible modalities of fetal intervention. Case selection for fetal intervention is extremely important in order to both avoid unnecessary intervention in those unlikely to survive, and also to avoid procedure related complications in fetuses likely to do well without intervention. Vesico‒amniotic shunting has the advantage of bypassing the obstruction, however it is often associated with complications. Open fetal surgery is not usually recommended because of the complications and high fetal loss rate. Endoscopic surgery to visualise and treat the cause of lower urinary tract obstruction has been tried. Fetal endoscopic surgery is in its infancy and endoscopic procedures are limited to a few groups. This current review addresses evaluation, case selection and therapeutic options for lower urinary tract obstruction in utero. It also discusses the limited data against which the efficacy of the various options can be assessed. The current state of fetal intervention is detailed in the present review. Copyright © 2001 John Wiley & Sons, Ltd.     

Prenatal detection of fetal hemoglobin E gene from maternal plasma

In order to provide a noninvasive prenatal diagnosis of the hemoglobin E (Hb E) related disorder, we have evaluated the possibility of identifying the fetal β^E-globin gene in maternal plasma. The analysis was performed during 8 to 18 weeks of gestation using DNA extracted from 200 µL of plasma from pregnant women whose husbands carried Hb E. The β^E-globin mutation in maternal plasma was detected by a nested PCR amplification followed by the Mnl I restriction analysis. The result was compared with that of routine analysis of the CVS specimens. Among the five pregnant women examined, the fetal β^E-globin gene was identified in maternal plasma in three of them and the result was completely concordant with the conventional CVS analysis. This simple noninvasive prenatal detection of the fetal β^E-globin gene should prove useful in a prevention and control program of Hb E/β-thalassemia in countries where the β^E-globin gene is prevalent. Copyright © 2003 John Wiley & Sons, Ltd.     

Ultrasound in prenatal diagnosis: polemics around routine ultrasound screening for second trimester fetal malformations

Ultrasound for routine fetal malformation screening has been polemical from its early beginning because of the very broad range of diagnosis rates disclosed, i.e. from 13% to 82%, average 27.5%. A review of available studies is proposed to assess objectively the efficacy of ultrasound, considering also economical, ethical and methodological aspects as influential factors for choosing a routine screening policy. The utility of fetal malformation diagnosis before birth is brought forward, including second opinion, karyotyping, poly-disciplinary case discussion prior to management. Method and material of reviewed studies considerably vary and might influence the sensitivity results, as the choice of the population sample and selection of pregnant women, gestation age at screening, distribution of malformation among systems or tracts, exclusion of some fetal malformation and the routine practice of autopsy. Efficiency of screening studies is compared, and among them Radius and Eurofetus studies. Average sensitivity is finally considered as satisfactory in the daily practice when operated by trained personnel. The importance of additional factors for successful screening are emphasized such as education, equipment quality and fetal ultrasound examination at different gestation age for a better understanding of natural history of fetal morphology. Copyright © 2002 John Wiley & Sons, Ltd.