Current status of prenatal diagnosis,operative management and outcome of esophageal atresia/tracheo-esophageal fistula

Ultrasonographic features suggestive of esophageal atresia with or without tracheo-esophageal fistula (EA/TEF) are only in a small minority of fetuses with EA/TEF (<10%) identifiable on prenatal scans. The prenatal diagnosis of EA/TEF relies in principle, on two nonspecific signs: polyhydramnios and absent or small stomach bubble. Polyhydramnios is associated with a wide range of fetal abnormalities, but most commonly it pursues a benign course. Similarly the sonographic absence of a stomach bubble may point to a variety of fetal anomalies. The combination of polyhydramnios and absent stomach bubble in two small series offers a modest positive predictive value of 44 and 56% respectively. Prenatal scanning for EA/TEF identifies a larger proportion of fetuses with Edwards syndrome; there is also a higher proportion of isolated EA in comparison to postnatal studies. Current ultrasound technology does not allow for a definite diagnosis of EA/TEF and therefore, counseling of parents should be guarded. Postnatal diagnosis of EA is confirmed by the failure to pass a firm nasogastric tube into the stomach; on chest X-ray, the tube is seen curling in the upper esophageal pouch. Corrective surgery for EA/TEF is well established and survival rates of over 90% can be expected. Copyright © 2008 John Wiley & Sons, Ltd.     

The history of the second-trimester sonographic markers for detecting fetal Down syndrome,and their current role in obstetric practice

This review summarizes the development, history and use of second-trimester sonographic markers for the detection of fetal Down syndrome over three decades. Starting with the nuchal fold thickening in 1985 and culminating in the genetic sonogram in the 1990s. The combination of second-trimester serum screening with the ultrasound markers improved the detection rate of affected fetuses but also allowed patients to decrease their risk of carrying a fetus with Down syndrome if the genetic sonogram was normal. More recently the role of the genetic sonogram and its markers have changed with the wide spread use of first-trimester screening. This prior screening ultimately decreases the prevalence of fetal Down syndrome in the second trimester to less than 85% of what it was in the first-trimester as most fetuses with Down syndrome are now identified early. Current interpretation of the second-trimester Down syndrome markers must be based on the result of the first trimester and combined screening to achieve the most accurate risk estimate of an affected fetus. Copyright © 2010 John Wiley & Sons, Ltd.