Objectives The prognosis of borderline forms of anomalies that can be detected by ultrasound is one of the most challenging issues in prenatal diagnosis. The aim of this study was to determine the prognosis for fetuses presenting with isolated mild ventriculomegaly (MVM). Methods Fetuses in which the width of the lateral ventricular atria was 10–12 mm and which had no other detectable chromosomal or morphological anomalies were followed by monthly ultrasound examinations until delivery. For the cases identified up to December 1997, postnatal information was gathered retrospectively through interviews. Children born from January 1998 onwards were included in a protocol involving planned neuropsychiatric visits at 12 and 18 months of age in which the Griffith scale was used to assess neurodevelopment. Results Between September 1992 and January 2001, 60 fetuses with isolated MVM were identified. Ventricular dilatation diminished in 18 cases (and became normal in nine of these) and stabilized in 42 cases. Information was obtained on 38 children born up to December 1997 and their neurodevelopment was found to be completely normal. The 22 children born from January 1998 onwards showed normal development at 12 and 18 months of age. Conclusions When MVM is observed on prenatal ultrasound examination it can be very difficult to offer parents appropriate counseling. It is important to exclude aneuploidy or morphological abnormalities but even then there will be anxieties about long‐term neurological outcome. Our data, which show normal neurodevelopment between 18 months and 10 years after birth in cases of MVM (10–12 mm), should provide a basis for reassuring counseling. Copyright © 2003 ISUOG. Published by John Wiley & Sons, Ltd.

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Wave-shaped ribs were detected at prenatal ultrasound in a 20(+1) week female fetus. At birth, skeletal radiographs showed marked hypomineralization and suggested hypophosphatasia. However, elevated blood calcium and alkaline phosphatase excluded hypophosphatasia and raised the possibility of Jansen metaphyseal dysplasia. Molecular analysis of the PTH/PTHrP receptor gene (PTH1R) showed heterozygosity for a previously undescribed transversion variant (c.1373T>A), which predicts p.Ile458Lys. In vitro evaluation of wild type and mutant PTH/PTHrP receptors supported the pathogenic role of the p.Ile458Lys substitution, and confirmed the diagnosis of Jansen metaphyseal dysplasia. This disorder may present prenatally with wavy ribs and in the newborn with hypomineralization, and may therefore be confused with hypophosphatasia. The mottled metaphyseal lesions typically associated with this disease appear only in childhood.

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We report our findings in a case of pulmonary atresia with intact ventricular septum and ventriculocoronary artery fistula in which power Doppler was used to make the diagnosis.A 30-year-old primiparous woman with no significant medical history presented at the fetal echocardiography service of our prenatal diagnosis center at 21 + 2 weeks of gestation after a routine sonographic examination had demonstrated a slightly enlarged fetal left cardiac ventricle. Sonography was performed using a Siemens Elegra ultrasound machine (Siemens, Erlangen, Germany) with a 3,5C40H transabdominal transducer. This showed fetal biometry to be consistent with gestational age and the extracardiac fetal morphology was normal. Twodimensional imaging of the four-chamber view confirmed that the left ventricle was slightly enlarged. The left outflow tract and the aortic arch were normal. Color Doppler examination demonstrated normal blood flow to the ventricles in diastole and absence of tricuspid valve regurgitation.The right ventricle was slightly hypoplastic with a hypertrophic myocardium and reduced movement. The main pulmonary artery diameter was reduced, the pulmonary arteries were perfused by retrograde flow from the ductus arteriosus and no flow through the pulmonary valve was detected. Power Doppler identified the presence of an anomalous vessel on the external wall of the heart which was confirmed by color Doppler and which demonstrated turbulent flow from the apex along the external wall of the right ventricle (Figures 1 and 2). Pulsed Doppler examination of this vessel demonstrated the presence of bidirectional flow: antegrade flow with a peak velocity of 150 cm/s and retrograde flow with a peak velocity of 110 cm/s (Figure 3). A diagnosis of pulmonary atresia with intact ventricular septum and abnormal communication between the right ventricle and left coronary artery was made.Fetal karyotyping following amniocentesis was normal and excluded the presence of the 22q11.2 deletion. The patient was counseled about the possibility of surgical repair, but opted for termination of pregnancy. Pathological examination of the fetus confirmed tricuspid atresia with hypoplastic right ventricle and, in place of the anterior descending ramus of the left coronary artery, there was an abnormally large, thick-walled ramus communicating with the right ventricular cavity (Figure 4), representing a ventriculocoronary artery fistula.Coronary artery fistulae are rare congenital anomalies which have recently been diagnosed in the antenatal period 1 -7 . They can occur in isolation or be associated with other cardiac anomalies, particularly flow obstruction pathologies. The fistula winds around the heart in a tortuous way and drains into a cardiac chamber