Prenatal diagnosis of schizencephaly with septo-optic dysplasia by ultrasound and magnetic resonance imaging.

A 28-year-old woman, gravida 1, para 0, was referred to our fetal diagnosis unit at 28(+2) gestational weeks because no fetal movements were detected. On 2-D ultrasonography, the cephalic axial view showed multiple hypoechoic spaces in the fetal brain, both cerebral cortex and occipital lobe showed bilateral defects, and the septum pellucidum was absent. Multiple irregularly shaped cystic lesions connected with subarachnoid spaces were observed by three-dimensional ultrasonography in surface rendering mode. Septo-optic dysplasia with dysgenesis of corpus callosum was confirmed by prenatal magnetic resonance imaging (MRI). The fetus was complicated with cleft schizencephaly involving bilateral frontal, parietal and occipital lobes, which can often lead to learning disability, epilepsy and cerebral palsy after birth. The flaccid mobility of all four extremities of the fetus, demonstrated prenatally by real-time ultrasound and functional MRI, forecast the risk of postnatal spastic quadriplegia.

Prenatal diagnosis of tetralogy of Fallot with pulmonary atresia.

Tetralogy of Fallot involves an abnormal embryological development in which an unequal conotruncal division results in a small pulmonary artery and a great aortic artery. In its most severe form, the infundibulum of the right ventricle and the pulmonary artery can be atretic with the anomaly commonly referred to as pulmonary atresia with ventricular septal defect. Reported here is a case of prenatal diagnosis of tetralogy of Fallot with pulmonary atresia. The characteristic ultrasonographic findings included a small pulmonary artery, a large aorta, and a ventricular septal defect. The search for an atretic pulmonary valve and a ductus arteriosus with reversed blood flow was emphasized in the presence of asymmetrically dilated fetal heart. After birth, the newborn received single-stage total correction for the tetralogy of Fallot and was discharged a month later in stable condition. In this case report, the neonatal angiogram is added for confirming the prenatal diagnosis, which is of value in teaching fetal echocardiography to novice practitioners. We believe a prenatal diagnosis of tetralogy of Fallot can improve neonatal outcome.

Prenatal diagnosis of pulmonary sequestration by ultrasound and magnetic resonance imaging.

A 36-year-old multigravida, G2P1, underwent routine ultrasound scan at 22+1 weeks of gestation, which revealed a single normally growing fetus with left intrathoracic mass and left displacement of the cardiac apex. The left intrathoracic wedge-shaped hyperechogenic mass, measuring 32 x 25 mm in size, was situated at the lower portion of the left lung. A combination of color and power Doppler ultrasound allowed visualization of a vessel arising from the descending aorta, which supplied the mass. The diagnosis of extralobar pulmonary sequestration was made. Magnetic resonance imaging (MRI) was also performed and revealed a well-defined mass with homogeneous high-signal intensity when compared with normal lung tissue in the left upper lung field, which was compatible with pulmonary sequestration. The pulmonary mass was followed up by color and power Doppler every 2 weeks. The peak velocity of 11.85 cm/sec and the diameter of the feeding artery of 1.19 mm gradually decreased and disappeared 8 weeks later. The intrathoracic mass disappeared 10 weeks later at 32+1 gestational weeks. Repeat MRI also revealed spontaneous regression of the mass in favor of resorption of sequestration. The fetus was delivered at 38+1 gestational weeks. A male newborn weighing 2,520 g was spontaneously delivered with an Apgar score of 8 at 1 minute and 9 at 5 minutes. In our patient, it is suggested that progressive decreases in the peak velocity of the feeding vessel heralded the spontaneous regression of pulmonary sequestration not associated with hydrops/hydrothorax.

Prenatal diagnosis of complete atrioventricular canal associated with tetralogy of Fallot.

A complete atrioventricular canal defect occurs when an embryonic common atrioventricular valve fails to divide completely into 2 common atrioventricular valves. Tetralogy of Fallot is an abnormal embryologic development in which an unequal conotruncal division results in a small pulmonary artery and a large aortic artery. We report a case of prenatal diagnosis of a complete atrioventricular canal defect associated with tetralogy of Fallot.

Prenatal diagnosis of atrial septal aneurysm.

We report the prenatal diagnosis of fetal atrial septal aneurysm based on the observation of a fluttering flap in the left atrium. The aneurysm was associated with an interatrial communication. In a 4-chamber view, separate arms of the aneurysm could be seen contracting in and extending out in response to the fetal cardiac cycle, giving the fluttering appearance of a jellyfish. The aneurysm disappeared 1 month after birth with no complications. The findings in this case indicate that isolated atrial septal aneurysm is a natural transient phase of spontaneous closure of the foramen ovale during normal fetal development.

Ductus venosus blood flow resistance and congenital heart defects in the second trimester.

PURPOSE: To study the association between fetal cardiac defects and the presence of abnormal blood flow resistance of the ductus venosus during the second trimester of pregnancy. METHODS: This retrospective case-control study included 72 pregnancies with fetal cardiac anomalies and 267 normal pregnancies. In fetuses with cardiac anomalies, Doppler velocimetry resistances of the ductus venosus were serially determined prior to birth. The Doppler velocimetry resistances obtained from fetuses with cardiac anomalies were in turn compared with median values derived from 267 normal pregnancies to compensate for biometric bias due to gestational age. RESULTS: Among the 72 pregnancies with fetal cardiac anomalies, 26 fetuses showed isolated congenital heart disease (CHD) without nonimmune fetal hydrops (NIFH) (group A), 10 fetuses showed isolated CHD with severe heart defects, including atrioventricular valve insufficiency and consecutive cardiogenic NIHF (group B), and 36 fetuses showed chromosomal abnormalities, nonchromosomal extracardiac malformations, noncardiogenic NIHF, and fetal growth restriction summarized as nonisolated CHD (group C). Based on the pulsatility index for the vein of the ductus venosus, the area under the receiver operating characteristic (ROC) curves was 0.71, 0.73, and 0.86 for groups A, B, and C, respectively. CONCLUSION: In the 36 fetuses from group C, increased pulsatility index for vein of the ductus venosus (DVPIV) yielded a significant area under the ROC curve (0.86) with a sensitivity of 0.78 and a specificity of 0.78. Increased DVPIVs during the second trimester of pregnancy are highly correlated with fetal cardiac anomalies associated with chromosomal and extracardiac anomalies.