Sonography of fetal cerebrospinal anomalies

Congenital anomalies of the central nervous system (CNS) are among the most frequent malformations. Current ultrasound equipment can give a precise diagnosis of many of these lesions from early gestation. High-resolution transvaginal probes play a major role both in allowing an early diagnosis and for better defining subtle details of both normal and abnormal cerebral anatomy. The diagnostic accuracy of prenatal ultrasound is, however, heavily dependent upon the expertise of the sonologist, the type of equipment employed, and the time dedicated to the scan. Fetal sonography is effective in identifying neural tube defects, although alpha-fetoprotein screening seems to give a greater sensitivity. The accuracy of ultrasound in the identification of CNS malformations other than neural tube defects remains unclear because of the ascertainment biases of the few large prospective studies that have been conducted to date. Copyright © 2002 John Wiley & Sons, Ltd.     

Prenatal sonographic signs of possible fetal genital anomalies

The sonographic markers of female and male external genitalia have been documented in early and late gestation. The aim of the present study was to report our experience of possible sonographic markers of fetal genital anomalies. Sonography was performed with a vaginal probe in early gestation and an abdominal sector scanner in advanced gestation. The following genital anomalies were observed: hypospadias, epispadias, ambiguous genitalia, and testicular feminization or Smith-Lemli-Opitz syndrome. It is therefore concluded that prenatal diagnosis of some genital anomalies is now possible.     

Accuracy of amniotic fluid testing before 21 weeks' gestation in prenatal diagnosis of congenital cytomegalovirus infection

Cytomegalovirus (CMV) is the most common cause of intrauterine infection. Recent publications show amniocentesis to have an 81–100 per cent sensitivity in antenatal diagnosis after 21 weeks' gestation. Testing before 21 weeks' gestation is less well documented. We performed 36 amniocenteses between 14 and 20 weeks' gestation. The sensitivity was 45 per cent and the specificity 100 per cent. Implications and possible causes of this low sensitivity are discussed.