Congenital nephropathy and ventriculomegaly: a report of four cases

Congenital nephrotic syndrome with ventriculomegaly and a normal karyotype is a rare association. We report four cases, three of which were conceived consecutively by one couple. All the cases were associated with elevated maternal serum alpha-fetoprotein. Renal histology in one fetus demonstrated colloid filled cysts distributed in the corticomedullary area. Transmission electron microscopy of the glomeruli showed normally developed foot processes and confirmatory genetic studies excluded Finnish congenital nephrotic syndrome. It is probable that congenital nephropathy in conjunction with ventriculomegaly is the result of an autosomal recessive syndrome. Copyright © 2002 John Wiley & Sons, Ltd.     

Increased nuchal translucency as a prenatal manifestation of congenital adrenal hyperplasia

We present two cases of pregnant women with a previous history of congenital adrenal hyperplasia. In both cases the only abnormal feature in the initial pregnancy had been increased nuchal translucency at 10–14 weeks of gestation. The fetal karyotype was normal and a diagnosis of congenital adrenal hyperplasia was made after delivery. In their current pregnancies, both fetuses also had increased nuchal translucency and normal fetal karyotype. Diagnosis of 21-hydroxylase deficiency was made prenatally by DNA analysis. These findings in four affected fetuses suggest that congenital adrenal hyperplasia should be added to the list of genetic anomalies associated with an increase in nuchal translucency. Copyright © 2001 John Wiley & Sons, Ltd.     

An umbilical cord teratoma in a 17-week-old fetus

A therapeutic abortion was conducted on a 17-week-old male fetus with a large umbilical cord teratoma associated with an exomphalos. A review of the literature revealed ten other cases of umbilical cord teratoma and shows that these tumors have a very polymorphic presentation. Four fetuses and infants died from various causes indicating that there is a need for close follow-up of pregnancies with umbilical cord teratoma. Copyright © 2001 John Wiley & Sons, Ltd.     

Normal and abnormal fetal cardiac anatomy

The heart is often perceived as a difficult organ to understand by ultrasound during fetal life. This is undoubtedly reflected in the low detection rate of cardiac abnormalities as compared to those of most other organ systems in the fetus. In this article we start by updating classical concepts of cardiac embryology, many of which were previously difficult to understand since they were overly simplistic or purely observational. We then lead on to the structure and growth of the fully formed fetal heart where we review the anatomy and ultrasound appearances in detail and provide comparisons with major abnormalities. We emphasise the fact that a solid understanding of cardiac anatomy can enable those involved in fetal medicine to make full use of the views of the heart that are obtained by ultrasound and which are often only transient. Copyright © 2004 John Wiley & Sons, Ltd.     

Prenatal diagnosis of congenital mesoblastic nephroma in mid-second trimester by sonography and magnetic resonance imaging

Although congenital mesoblastic nephroma (CMN) is a rare benign congenital renal tumor, it is the most common solid renal tumor in the newborn period. The most common presentation of congenital mesoblastic nephroma is polyhydramnios, and only one case with prenatal fetal hydrops has been previously reported. Prenatal diagnosis of CMN has previously been made on the basis of the findings of sonography in the third trimester, and magnetic resonance imaging (MRI)–based diagnosis has been reported recently. Here we report a case of prenatally diagnosed classical type CMN diagnosed at 22 + 3 weeks of gestation based on the findings of sonography and magnetic resonance imaging. The characteristic imaging findings in this case were fetal hydrops and polyhydramnios. To our knowledge, this is the youngest reported gestational age for prenatal diagnosis of CMN and it is the second case of CMN associated with fetal hydrops detected prenatally. Copyright © 2003 John Wiley & Sons, Ltd.     

Early amniocentesis: A clinical review

Early amniocentesis at less than 14 weeks gestation is becoming more common in prenatal diagnosis populations. Randomized studies are minimal and have not had the power to determine the accuracy and safety of the procedure compared to chorionic villus sampling or mid-trimester amniocentesis. Procedures at 11⁺⁰-12⁺⁶ weeks should be considered experimental. This clinical review considers the ethics, embryology, and clinical experience (cytogenetics, AFP, AChE, procedure and cytogenetic failures, spontaneous and therapeutic pregnancy losses, congenital anomalies) of early amniocentesis.     

Prenatal ultrasonographic diagnosis of congenital megalourethra

Congenital megalourethra is a rare genital anomaly characterized by dilatation of the penile urethra without evidence of distal obstruction. Reports of the prenatal diagnosis of this condition in the literature are limited. We present a case of congenital megalourethra with obstructive uropathy from the posterior urethra diagnosed prenatally at 18 weeks of gestation. ‘Prune-belly’-like features, colonic malrotation, and imperforate anus were also found on autopsy.