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.     

Cardiac flow after fetal blood sampling in normally grown and growth-retarded fetuses

The objective of this study was to evaluate the effect of fetal blood sampling on cardiac flow velocity waveforms. Flow velocity waveforms were measured from the ascending aorta and pulmonary artery immediately before and after fetal blood sampling in 29 normally grown and 12 growth-retarded fetuses. The latter group was characterized by abnormal Doppler indices in the umbilical artery and middle cerebral artery suggestive of uteroplacental insufficiency as the causative factor of the impaired growth. The flow velocity parameters studied were the peak velocity, the time to peak velocity, and the left and right cardiac output and their ratio. In normally grown fetuses, the peak velocity and right and left cardiac output values increased significantly after fetal blood sampling, while no significant changes were observed in the other indices considered. The gestational age at the time of the procedure was positively related to the amplitude of these changes. In growth-retarded fetuses, fetal blood sampling did not induce any significant increase in cardiac output or peak velocities, while in more than 50 per cent of the fetuses these Doppler indices decreased. The amplitude of the decrease was significantly related to the severity of acidosis in the umbilical vein. In conclusion, the cardiac haemodynamic response to fetal blood sampling differs between normally grown and growth-retarded fetuses. This difference may explain the higher rate of complications occurring in the latter group of fetuses after blood sampling.     

Patient care before and after termination of pregnancy for neural tube defects

A retrospective study was designed to examine the perception of care in women who had experienced a second-trimester termination of pregnancy (TOP) for a neural tube defect. Women were identified over a 3-year period, 1983–1985. After appropriate consent, 166 women were visited at home between 4 weeks and 7 months post-TOP and interviewed by one experienced interviewer using a structured questionnaire with open and closed questions. The majority (137, 82 per cent) felt satisfied with the care received during screening, prenatal diagnosis, and during the TOP (126, 76 per cent). Patients were less satisfied (63, 38 per cent) with post-TOP care in hospital. On leaving hospital, the post-termination sequelae were mentioned to only 25 (15 per cent) patients, which left 135 (81 per cent) confused and bewildered by the post-partum reactions of their bodies, and by their strong emotions. After-care was perceived as unsatisfactory by 113 (68 per cent). One-quarter (42, 25 per cent) did not have, and were not invited for, a post-termination appointment and thus did not have an opportunity to ask questions or to discuss the fetus. Eighty-six (51-8 per cent) had no visit from any member of the primary health-care team, yet most would have appreciated such a visit. Suggestions for improved management are presented.     

The effect of a systemic arteriovenous fistula on the pulmonary arterial blood pressure in the fetal sheep

In order to investigate whether systemic arteriovenous fistula occurring during the fetal period could induce pulmonary hypertension at birth, a fistula was surgically created between the carotid artery and jugular vein of fetal lambs at 120 days' gestation. Mean pressures in the left pulmonary artery, aorta, atrium and ventricles were measured at birth in seven experimental animals and in five control animals. Mean left pulmonary pressure was significantly higher in the lambs with fistula as compared with the control group, suggesting that prenatal occurrence of systemic arteriovenous fistula may induce fetal pulmonary hypertension. The present study provides a new animal model that could be relevant for the study of mechanisms regulating pulmonary vascular tone in the perinatal period. Copyright © 2002 John Wiley & Sons, Ltd.     

Intrauterine brain teratoma: a case report of imaging (US,MRI) with neuropathologic correlations

Fetal brain tumors are rare and teratoma is considered as the most common. Fetal MR Imaging is currently used to evaluate cases of ventricular dilatation. We report a case of cerebral immature teratoma detected by ultrasonography because of ventricular dilatation at 24 gestational weeks. MRI was the more accurate imaging method in depicting the tumor and its consequences on brain development as well as in taking a decision with regard to the management of pregnancy. Copyright © 2003 John Wiley & Sons, Ltd.     

The efficacy of flecainide versus digoxin in the management of fetal supraventricular tachycardia

Fetal supraventricular tachycardia (SVT) can be successfully treated transplacentally, but in cases where fetal hydrops develops there is considerable morbidity and mortality. The present study was carried out to establish whether the introduction of flecainide altered obstetric management and fetal outcome. A retrospective analysis took place of 51 singleton pregnancies which were referred to the division of prenatal diagnosis because of fetal tachycardia between 1982 and 1993. SVT was documented in 50 out of 51 fetuses, one of which displayed a combination of extensive rhabdomyomas and severe hydrops and died shortly after referral. In the other fetus ventricular tachycardia was diagnosed. Of the remaining 49 fetuses, 14 did not receive any prenatal treatment, but nine needed postnatal treatment. Transplacental treatment of SVT took place in 35 fetuses, of which 22 presented without hydrops and 13 with hydrops. These subsets differed significantly with respect to restoration of normal sinus rhythm (73% vs. 30%; p<0.001) and mortality (0% vs. 46%; p<0.001). Digoxin was effective in restoring sinus rhythm in 55 per cent of the non-hydropic fetuses but in only eight per cent of the hydropic fetuses. Flecainide was effective in restoring sinus rhythm in all non-hydropic fetuses where digoxin treatment failed, and in 43 per cent of hydropic fetuses. Administration of flecainide resulted in a significantly reduced mortality (p<0.001) compared with digoxin treatment. No adverse effects were seen. Postnatal anti-arrhythmic treatment was necessary in 23 infants. Treatment could be withdrawn within one year in all cases but one.     

Fetal chromosome analysis: Screening for chromosome disease?

The aim of the study was to investigate the rationale of the current indications for fetal chromosome analysis. 5372 women had 5423 amniocenteses performed, this group constituting a consecutive sample at the chromosome laboratory, Rigshospitalet, Copenhagen from March 1973 to September 1980 (Group A + B). Pregnant women 35 years of age, women who previously had a chromosomally abnormal child, families with translocation carriers or other heritable chromosomal disease, families where the father was 50 years or more and women in families with a history of Down's syndrome (group A), were compared to women having amniocentesis, although considered not to have any increased risk of fetal chromosome abnormality (1390 pregnancies, group B). They were also compared with 750 consecutive pregnancies in women 25–34 years of age, in whom all heritable diseases were excluded (group Q. The risk of unbalanced chromosome abnormality in group A (women with elevated risk) is significantly higher than in group B + C (women without elevated risk) (relative risk 2–4). Women with a known familial translocation and women 40 years or more have a relative risk of 5–7 of having an unbalanced chromosome abnormality compared with women without elevated risk. Spontaneous abortion rate and prematurity rate did not differ from rates expected without amniocentesis. It is concluded that current indications may be characterized as a mixture of evident high risk factors and factors with only a minor influence on risk. Indications for amniocentesis should therefore be reconsidered. Because it must be considered impractical and ethically wrong to limit amniocentesis to the two mentioned real high risk groups, and illogical to continue the present policy, which is not based on clearcut evidence, the possibility of offering amniocentesis to all who want it, is discussed. Screening for chromosome disease in all pregnancies is not without problems, but may be reasonable in some localities.     

Fetal magnetic resonance imaging (MRI) of ischemic brain injury

The aim of the present study was to demonstrate the usefulness of fetal magnetic resonance imaging (MRI) in ischemic brain injury. We report seven cases of fetal brain ischemia prenatally suspected on ultrasound (US) and confirmed by fetal MRI. Sonographic abnormalities included ventricular dilatation (n=3), microcephaly (n=1), twin pregnancy with in utero death of a twin and suspected cerebral lesion in the surviving co-twin (n=3). MRI was performed with a 1.0 T unit using half-Fourier acquisition single-shot turbo spin-echo (HASTE) sequences between 28 and 35 weeks of gestation. US and MRI images were compared with pathologic findings or postnatal imaging. MRI diagnosed hydranencephaly (n=1), porencephaly (n=2), multicystic encephalomalacia (n=2), unilateral capsular ischemia (n=1), corpus callosum and cerebral atrophy (n=1). In comparison with US, visualization of fetal brain anomalies was superior with MRI. The present cases demonstrate that MRI is a valuable complementary means of investigation when a brain pathology is discovered or suspected during prenatal US. Copyright © 2001 John Wiley & Sons, Ltd.     

Funipuncture for fetocide in late termination of pregnancy

The most widely used method for fetocide in late termination of pregnancy for fetal abnormalities (TOPFA) consists of injecting of potassium chloride (KCl) into the fetal heart and is likely to be painful after 22 weeks of gestation. We studied ten consecutive women undergoing TOPFA between 22 and 38 weeks. This technique for fetocide consisted of a single umbilical vein puncture under ultrasound guidance with injections of sufentanil 5 µg followed by KCl 2 g. No electrocardiographic modifications could be observed and maternal plasma potassium levels did not show any significant variation throughout the procedure. Fetal umbilical phlebotomy for fetal analgesia followed by fetocide therefore appears to be a safe procedure for the mother and allows the fetus to die without pain when late termination of pregnancy (TOP) is indicated. Copyright © 2002 John Wiley & Sons, Ltd.     

Complications of cordocentesis in high-risk pregnancies: Effects on fetal loss or preterm delivery

Between 1990 and 1993, 166 cases underwent cordocentesis and were followed for at least the following 4 weeks in the Prenatal Diagnosis and Therapy Centre of Vienna University. The indications for the procedure were structural malformations in 46·4 per cent of the cases, other high-risk diagnoses in 48·8 per cent, and maternal age over 35 years in only 4·8 per cent. We investigated retrospectively all cases of complications resulting in fetal loss or preterm labour. Abortion, intrauterine fetal death, chorioamnionitis, and preterm delivery occurred in 0·6, 5·4, 0·6 and 9·0 per cent of these cases, respectively, adding up to a total of 26 cases (15·7 per cent). Although this rate looks relatively high, 20 of the 26 cases had already displayed signs implying a complicated prognosis. Neither maternal age, gestational age, number of attempts, nor placental location correlated with fetal loss or preterm delivery. Significantly higher rates of fetal loss or preterm delivery were observed when cordocentesis was performed in cases diagnosed as duodenal/intestinal stenosis or hydrops–ascites–hydrothroax/hygroma colli (P=0·0488 and P=0·0005). The frequency of complications did not decrease as the experience of the operators increased.     

In utero diagnosis and treatment of fetal goitrous hypothyroidism,caused by maternal use of propylthiouracil

A fetal goitre is a potentially dangerous phenomenon because of mechanical obstruction and possible fetal thyroid function disorders. In this report we describe a patient with Graves' disease diagnosed in early pregnancy and treated with propylthiouracil, which resulted in a large fetal goitre and fetal hypothyroidism. The diagnostic problems are discussed and we focus on the need for fetal thyroid hormone serum evaluation. The only reliable way to obtain information about the fetal thyroid status is percutaneous fetal umbilical cord blood sampling, since amniotic fluid levels do not properly represent the fetal thyroid function. Fetal hypothyroidism can thus be diagnosed in utero and treated with intra-amniotic injections of thyroxine. The recommended dose and frequency of injections are only based on a few case reports and for that reason we performed a second fetal blood sampling 1 week later to evaluate our therapy. Weekly intra-amniotic injections of 250 μg of thyroxine seem to be sufficient to reduce a fetal goitre and give a normal thyroid hormone level.     

Aortic isthmus Doppler velocimetry: role in assessment of preterm fetal growth restriction

Intrauterine fetal growth restriction (IUGR) is an important pregnancy complication associated with significant adverse clinical outcome, stillbirth, perinatal morbidity and cerebral palsy. To date, no uniformly accepted management protocol of Doppler surveillance that reduces mortality and cognitive morbidity has emerged. Aortic isthmus (AoI) evaluation has been proposed as a potential monitoring tool for IUGR fetuses. In this review, the current knowledge of the relationship between AoI Doppler velocimetry and preterm fetal growth restriction is reviewed. Relevant technical aspects and reproducibility data are reviewed as we discuss AoI Doppler and its place within the existing repertoire of Doppler assessments in placental insufficiency. The AoI is a link between the right and left ventricles which perfuse the lower and upper body, respectively. The clinical use of AoI waveforms for monitoring fetal deterioration in IUGR has been limited, but preliminary work suggests that abnormal AoI impedance indices are an intermediate step between placental insufficiency-hypoxemia and cardiac decompensation. Further prospective studies correlating AoI indices with arterial and venous Doppler indices and perinatal outcome are required before encorporating this index into clinical practice. Copyright © 2010 John Wiley & Sons, Ltd.     

Prenatal rupture of a left ventricular diverticulum: a case report and review of the literature

Congenital left ventricular diverticulum is a rare malformation. We report a case of a ruptured congenital left ventricular diverticulum in a 24-week-old fetus. The fetus was referred for a large and circumferential pericardial effusion confirmed by cross-sectional echocardiography in our tertiary fetal cardiology unit. Pericardiocentesis removed 25 mL of old hematic fluid. The fetus died 5 days later. The pathological examination showed a ruptured submitral fibrous diverticulum of the posterior wall of the left ventricle. There is no previous report in the literature of prenatal rupture of a cardiac diverticulum. The submitral location and the fibrous wall of the diverticulum is uncommon. As regards this case, we reviewed the diagnostic criteria and the outcome of 11 cases of prenatal cardiac diverticulum reported in the literature. Copyright © 2004 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.     

The significance of fetal ventriculomegaly: etiology,short- and long-term outcomes

Fetal cerebral ventriculomegaly (VM) is diagnosed when the width of one or both ventricles, measured at the level of the glomus of the choroid plexus (atrium), is ≥ 10 mm. VM can result from different processes: abnormal turnover of the cerebrospinal fluid (CSF), neuronal migration disorders, and destructive processes. In a high percentage of cases, it is associated with structural malformations of the central nervous system (CNS), but also of other organs and systems. The rate of associated malformations is higher (≥60%) in severe VM (>15 mm) and lower (10–50%) in cases of borderline VM (10–15 mm). When malformations are not present, aneuploidies are found in 3–15% of borderline VM; the percentage is lower in severe VM. The neurodevelopmental outcome of isolated VM is normal in > 90% of cases if the measurement of ventricular width is between 10 and 12 mm; it is less favorable when the measurement is > 12 mm. Copyright © 2009 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.     

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.     

Prenatal obstruction of the ileum diagnosed by ultrasound

A case of low atresia of the ileum, diagnosed prenatally by real-time ultrasound scanning, is presented. The ultrasound examination showed progressive distension of intestinal loops, with strong peristaltic movements. The stomach was also distended, presenting as a large cystic area in the upper left abdomen. Real-time ultrasound technique is most advantageous in the diagnosis of fetal ileus. Prenatal diagnosis of fetal intestinal obstruction is of great importance, making early and safe treatment of the newborn possible.     

Hyperechoic fetal bowel: The perinatal consequences

A number of publications have reported an association between the finding of hyperechoic fetal bowel on prenatal sonogram and disorders such as aneuploidy and cystic fibrosis. To define more precisely the significance of this finding, we systematically reviewed the published material on the subject. Based on a total of 357 reported cases, we documented a high prevalence of cystic fibrosis (25·6 per cent) and chromosome abnormality (12·4 per cent) associated with increased bowel echogenicity in the fetus. High rates of intrauterine growth retardation (14·9 per cent), fetal demise (9·0 per cent), and prematurity (15·3 per cent) were also found. The data were obtained from a population at high a priori risk for aneuploidy and included fetuses at 1 in 4 risk for cystic fibrosis reported in two studies. This increased the bias towards an adverse outcome. The rate of complications when a hyperechoic abdomen is noted in a low-risk fetal population has so far not been delineated. Although the high frequency of complications found is of concern and warrants investigation, extrapolation of these risk figures to a fetal population at low a priori risk may not be appropriate.     

Risk of amniocentesis in women screened positive for Down syndrome with second trimester maternal serum markers

In routine obstetrical practice, prior to offering invasive prenatal diagnosis, it is crucial to weigh the risks attendant on amniocentesis against the individual's risk of aneuploidy. We took advantage of a policy of follow-up of patients undergoing Down syndrome maternal serum screening to compare the rates of fetal loss before 24 weeks and of early premature delivery at 24–28 weeks between women who underwent amniocentesis and women who did not. A total of 54 902 patients entered the study, of whom 4039 (7.35%) were lost to follow-up and 387 were excluded because of a severe fetal abnormality. Of the 50 476 remaining patients, 3472 had an amniocentesis whereas 47 004 had not and served as controls. In the amniocentesis group, the fetal loss rate before 24 weeks was 1.12% (95% CI=1.08–1.15) and the 24–28 weeks premature delivery rate was 0.40% (95% CI=0.39–0.41) which was significantly higher than in controls (0.42% with 95% CI 0.41–0.43 and 0.24% with 95% CI 0.23–0.25, respectively). The 0.86% difference in adverse outcome rates between the amniocentesis and control groups may be attributable to amniocentesis and compares favourably with the positive predictive value of maternal serum markers (1.70%) observed in the present study. Copyright © 2002 John Wiley & Sons, Ltd.