Restrictive dermopathy and fetal behaviour

We report three siblings from consecutive pregnancies affected with restrictive dermopathy (RD). During the second pregnancy, fetal behavioural development and growth were studied extensively using ultrasound at 1–4 week intervals. Dramatic and sudden changes occurred in fetal body movements and growth but not until the end of the second trimester of pregnancy. Prominent at that time were prolonged periods of fetal quiescence and very low heart rate variability, together with abnormally executed body movements of short duration. Retarded femoral development and jerky abrupt fetal body movements (abnormal movement quality) were already present in the early second trimester of pregnancy. Facial anomalies emerged despite the presence of fetal mouth movements. The clinical features of RD were only partly explained by present knowledge of skin development and the fetal akinesia deformation sequence hypothesis. Quantitative assessment of fetal movements proved to be a poor early marker for antenatal diagnosis of this disorder. Copyright © 2001 John Wiley & Sons, Ltd.     

Changes in fetal heart rate pattern after intrauterine paracentesis in one twin with meconium peritonitis

We report a case of in utero paracentesis of ascites in a fetus with meconium peritonitis due to volvulus at 34 weeks which resulted in the correction of an abnormal fetal heart rate pattern and enabled vaginal delivery by preventing abdominal dystocia. The intrauterine intervention also helped to establish the diagnosis and potentially reduced the respiratory compromise after birth. Copyright © 2001 John Wiley & Sons, Ltd.     

Methods for prenatal assessment of fetal cardiac function

Fetal cardiac function is increasingly recognized as a marker of disease severity and prognosis in selected fetal conditions. Magnetic resonance imaging (MRI) has been used in experimental (animal) fetal cardiology but the lack of a noninvasive fetal electrocardiogram (ECG) to trigger image acquisition remains a major limiting factor precluding its application in humans. Fetal medicine specialists are therefore limited to ultrasound to evaluate human fetal cardiac function. In this review, we aim to provide a complete overview of the different ultrasound techniques that can be used for fetal cardiac function assessment and we discuss their (theoretical) strengths and shortcomings. Conventional methods include M-mode assessment of ventricular contractility and Doppler assessment of the precordial veins and cardiac output (CO). More recent techniques such as the measurement of the myocardial performance index (MPI), myocardial motion analysis with tissue Doppler, speckle tracking and three-dimensional (3D) ultrasound techniques are also discussed. Copyright © 2009 John Wiley & Sons, Ltd.     

Prenatal diagnosis of ventricular aneurysm: a report of two cases and a review

Ventricular aneurysms have rarely been reported prenatally. Their prognosis is variable depending on factors such as early detection, their relative size in comparison to the ventricular cavity, growth on follow-up, and signs of cardiac failure. In view of the fact that it may be useful to report on additional cases in order to make available further information on aetiology, prognosis and neonatal management, we hereby report on two cases of ventricular aneurysm with good mid-term prognosis. One case of apical aneurysm of the left ventricle was associated with a muscular ventricular septal defect, the features of which are compatible with a fetal myocardial infarction and ventricular septal rupture in absence of coronary artery anomalies as demonstrated by catheterisation. Another case of sub-tricuspidal aneurysm of the right ventricle associated with mitral prolapse appears to be a component of diffuse connective dysplasia. Despite the early gestational age at diagnosis, the large size of the aneurysm and the associated defect, both the infants were asymptomatic in infancy prompting a conservative management. Copyright © 2002 John Wiley & Sons, Ltd.     

Pulmonary stenosis and reactive right ventricular hypertrophy in the recipient fetus as a consequence of twin-to-twin transfusion

The present study describes an association between adverse outcome in the twin-to-twin transfusion syndrome (TTTS) and pulmonary stenosis or reactive right ventricular hypertrophy. Six discordant monozygotic twin pregnancies with TTTS are described. Ventricular hypertrophy and atrioventricular valvular regurgitation occurred in all the recipient twins with pulmonary valvular stenosis in three cases and infundibular stenosis in one case. The recipient twin in one pair and both twins in another pregnancy died as a consequence of immaturity but the remaining twins all survived. Surgical intervention was required in one baby for valvular pulmonary stenosis. Our observations suggest that elevated blood pressure in the transfusion recipient may play an important role in pathogenesis. We hypothesise that both pulmonary stenosis and right chamber hypertrophy are secondary to hemodynamic changes. Although we have found valvular pulmonary stenosis in three recipients and infundibular stenosis in only one, this (obstruction to outflow) could be due to right chamber hypertrophy. Copyright © 2001 John Wiley & Sons, Ltd.     

Relative risk of abnormal karyotype in fetuses found to have an atrioventricular septal defect (AVSD) on fetal echocardiography

One hundred and twenty-five fetuses were identified as having an AVSD with normal venous connections, normal arterial connections and normal cardiac situs on fetal echocardiography. Fetal karyotype was known in 111 of these cases. The relative risk of fetal trisomy 21 at mid-trimester was 107 (95% CI 87–127) times the expected number of cases compared with risk from maternal age alone, and that for trisomy 21,18 or 13 was 95 (95% CI 79–109). This data may be useful in counselling pregnant women about risk of fetal karyotypic abnormality after a diagnosis of fetal AVSD. Copyright © 2005 John Wiley & Sons, Ltd.