Objective To assess the accuracy of fetal echocardiography in the prenatal diagnosis of cardiosplenic syndromes and the spectrum of associated anomalies. Methods

Objectives: Assessment of the dimensions of the cardiac chambers and the great arteries in the human fetus may be helpful in the prenatal diagnosis of congenital heart disease. The purpose of this prospective cross-sectional study was to compile normative data in fetal cardiac measurements in early pregnancy. The structure of the fetal heart was examined in 136 normal singleton fetuses between 10 and 17 weeks of gestation. Methods: The transversal heart diameter, both ventricular dimensions, interventricular septal thickness, heart area, heart circumference, thoracic diameter, thoracic circumference and thoracic area were measured in the four-chamber view during diastole. Diameters of the pulmonary trunk and ascending aorta were obtained in the short axis and long axis view during systole. Ultrasound examinations were performed with a 5.0-MHz transvaginal and/or transabdominal phased-array sector scanner. Results: The four-chamber view and the cross-over of the pulmonary artery and the aorta were adequately visualized in 44% of the fetuses at 10 weeks of gestation, in 75% at 11 weeks of gestation, in 93% at 12 weeks of gestation and in 100% of the fetuses at 13–17 weeks of gestation. Before 14 weeks of gestation transvaginal sonography was superior to the transabdominal sonography in visualization of the fetal heart and great arteries. After 14 weeks of gestation transabdominal sonography accurately demonstrated the structure of the fetal heart. The ratio of right and left ventricle (RV/LV) and the ratio of the pulmonary trunk and aorta (PT/AO) were constant during this period of gestation (approximately 1.00 and 1.10, respectively). The ratio of the cardiac and thoracic area showed only a slight increase with advancing gestational age, but with significant correlation. The fetal heart rate showed a slow decrease from 167 to 150 bpm in this period of gestation. The transversal heart diameter, both ventricular dimensions, interventricular septal thickness, heart area, cardiothoracic diameter ratio, aortic diameter and the pulmonary trunk diameter showed a highly significant linear correlation to the gestational age and the biparietal diameter. Conclusion: The advancing quality of ultrasound images allows fetal echocardiography in the first and early second trimester. Our normative data could be the basis of studying the development of cardiac structures in congenital heart disease and it might be helpful in the detection of some congenital heart defects in early pregnancy.

K E Y W O R D S:body stalk anomaly; fetal abdominal wall defect; fetus; first trimester; limb-body wall complex; multiple pregnancy; prenatal diagnosis; short umbilical cord; triplets; twin gestation ABSTRACT Objective

Early fetal echocardiography is feasible and allows the detection of most CHD. Congenital heart defects vary in appearance at different stages of pregnancy and may evolve in utero with advancing gestational age. Therefore, early fetal echocardiography should always be followed by echocardiography at mid gestation.

ABSTRACT

Fetal hydrops and/or hepatosplenomegaly in the second half of pregnancy, although suggestive of infectious etiology, may be a sign of myeloproliferative disorder in fetuses with trisomy 21 or mosaic trisomy 21. There is a possibility that a transient myeloproliferative disorder is a more common cause of mid or late-trimester hydrops in cases of trisomy 21 than previously thought. In these hydropic fetuses the prognosis seems to be poor. On the other hand we can speculate that a myeloproliferative disorder and the associated hepatosplenomegaly and/or hydrops may show spontaneous remission or that the transient myeloproliferative disorder may be without any detectable ultrasonographic signs and therefore may be more frequent in utero than realized.

Fetal intra-abdominal cysts seen on antenatal sonography pose a diagnostic problem as they may have many etiological origins. We present a case of a hepatic cyst measuring 11 x 7 x 7 mm that was diagnosed at 13 weeks' gestation by transvaginal sonography. The cyst increased in proportion with the growth of the fetus. Ultrasound-guided needle aspiration of the cyst at 22 weeks' gestation helped to clearly identify the formerly displaced gall bladder and demonstrated the intrahepatic location of the cyst. The aspirated fluid was identified as bile. After aspiration the fluid reaccumulated rapidly. Shortly prior to delivery the cyst measured 75 x 44 x 46 mm. At 39 weeks of gestation a female infant was delivered by forceps (3610 g; Apgar 9/10/10 at 1, 5 and 10 min, respectively). Increasing cyst size and concomitant feeding problems prompted surgery on the 14th day postpartum. A large hepatic cyst was partially excised and marsupialized, confirming the prenatal diagnosis. The postoperative course was complicated by cholangitis, septicemia and recurrence of the cyst. Therefore Roux-en-Y hepatojejunostomy was performed in the second month of life. The postoperative period was uneventful and the child was doing well at the time of writing.

The aim of this study was to assess the prevalence and clinical significance of fetal tricuspid valve regurgitation. In a cross-sectional study, 289 normally grown singleton fetuses with normal heart anatomy, normal estimated weight for gestational age, normal amniotic fluid volume and normal flow velocity waveforms in the umbilical and middle cerebral arteries and umbilical vein were examined. A further 31 singleton fetuses with intrauterine growth retardation (estimated fetal weight below the 3rd centile) were analyzed. Semiquantification of the tricuspid valve regurgitation by spatial and temporal parameters was performed in the four-chamber view by color Doppler flow imaging and by color Doppler M-mode echocardiography (M-Q mode). The prevalence of fetal tricuspid valve regurgitation among normally grown fetuses was 6.23% (n = 18). In all cases, the tricuspid regurgitation was part-systolic (non-holosystolic, early and mid-systolic tricuspid regurgitation) and showed little spatial expansion of the jet as examined by color Doppler flow imaging (no jet reached the opposite atrial wall, the area of tricuspid regurgitation being less than 25% of the atrial area). The maximum velocity of the regurgitant jets was below 2 m/s with one exception. There was no statistically significant correlation between gestational age and occurrence of tricuspid regurgitation (U test, p > 0.05). Re-examination of 14 of the 18 fetuses with tricuspid regurgitation showed that tricuspid regurgitation was a transient phenomenon in these instances. The fetal outcome in the presence of tricuspid valve regurgitation was normal. Regurgitations of the mitral, pulmonary and aortic valves were excluded in all 289 fetuses. Only two of the 31 fetuses (6.45%) with intrauterine growth retardation showed tricuspid valve regurgitation. In one fetus the tricuspid regurgitation ws only part-systolic. In the other severely compromised fetus with highly abnormal flow velocity waveforms in the arterial and venous side of the fetal circulation, cardiac dilatation with holosystolic tricuspid and holosystolic mitral regurgitation occurred immediately before intrauterine death. Fetal tricuspid valve regurgitation was a frequent finding during Doppler echocardiography. Although it may be a sign of increased preload, afterload or cardiac dysfunction, in most cases tricuspid valve regurgitation is an isolated transient finding with little temporal and spatial expansion, and it may be physiological.