Atypical ductus venosus blood flow pattern in fetuses with severe tricuspid valve regurgitation.

We observed seven cases of atypical ductus venosus (DV) blood flow velocity waveform pattern with impairment of systolic forward flow resulting in a notch or a significant reduction in peak velocity during the S-wave in systole. All affected fetuses had severe tricuspid valve regurgitation associated with congestive heart failure and/or cardiac malformations. The decrease in venous systolic forward flow modulates the venous pulsatility indices towards more favorable values and should be considered when fetuses with tricuspid regurgitation are followed by Doppler assessment of the DV. Detection of these changes in the DV flow profile should prompt detailed color Doppler echocardiography with special emphasis on right atrioventricular valve regurgitation.

Antenatal corticosteroid therapy in premature infants.

OBJECTIVE: The objective was to examine the effect of antenatal corticosteroid treatment on premature infants, with special attention to any possible adverse effects on neonatal outcome. METHODS: A retrospective chart review of all singleton and multiple pregnancies delivered in our perinatal center between 1991 and 1999, who had a birth weight of < or =1,500 g and who were subsequently admitted to our neonatal intensive care unit. Three hundred and sixty-five infants were included in the study and divided into two groups. One group had a gestational age below 28 weeks (< or =196 days) and one group was 28 weeks (>196 days) onward. RESULTS: Antenatal corticosteroid therapy reduced the duration of mechanical ventilation, the need for supplementary oxygen, and the need for exogenous surfactant in neonates born at >196 days's gestation (p<0.05). Corticosteroid treatment seemed to benefit the respiratory distress syndrome (RDS; p=0.051) in this group. There were less cases of necrotizing enterocolitis and neonatal death in the group with corticosteroid treatment (p<0.05). Before 28 weeks' gestation, all parameters that were examined (e.g., duration of mechanical ventilation, need for supplemental oxygen, need for exogenous surfactant, RDS) showed no significant differences between those pregnancies pre-treated with corticosteroids or those not treated with corticosteroids. There was no adverse effect of corticosteroids on chorioamnionitis and early onset sepsis in pregnancies with a premature rupture of the membranes. Repeated corticosteroid treatment had no effect on birth weight, but did not improve neonatal outcome either. The interval between last corticosteroid treatment and delivery had no influence on RDS. There was no effect of corticosteroids on periventricular leukomalacia and intraventricular hemorrhage. Regression analysis showed a higher risk of severe RDS in multiple gestations. CONCLUSION: Antenatal betamethasone treatment reduces perinatal morbidity and mortality after 28 weeks' gestation. We found no adverse effects and also no benefit of repetitive corticosteroid treatment. The interval between last corticosteroid treatment and delivery did not influence the incidence of RDS. Dose, timing, and rate of antenatal corticosteroids should be reconsidered in multiple gestations.

The evaluation of cardiac biometry in major cardiac defects detected in early pregnancy.

The objective was to evaluate early cardiac biometry in fetuses with structural cardiac defects between 10 and 17 weeks of gestation using our normative data about fetal heart biometry. A retrospective case series, patients were selected from all cases with congenital heart disease diagnosed between 10 and 17 weeks of gestation in our prenatal unit between 1999 and 2000. A schematic sonographic examination, including nuchal translucency (NT) thickness measurements, was performed and was followed by fetal Doppler echocardiography. The transversal heart diameter, both ventricular dimensions, heart area, heart circumference, thoracic diameter, thoracic circumference, thoracic area, pulmonary trunk diameter and aortic diameter were measured and the cardiothoracic ratios were calculated. Doppler evaluation of the umbilical arteries, ductus venosus and umbilical vein was performed. Fetal karyotyping was obtained by amniocentesis or chorionic villous sampling. During the study period, 31 cases of congenital heart disease between 10 and 17 weeks of gestation were diagnosed. Of these, two fetuses presented with ectopia cordis and six with insufficient cardiac biometric measurements. In the remaining 23 fetuses, different complex abnormalities with a high rate of chromosomal abnormalities (91%) were present. Fetal heart biometry was normal in 22% and abnormal in 78%. NT thickness measurements were performed before 14 weeks of gestation and ten of 12 fetuses (83%) presented with an increased NT. Both fetuses with normal NT showed an abnormal fetal heart biometry. Venous Doppler evaluation was performed in 22 cases and 12 fetuses (55%) demonstrated an abnormal venous Doppler. There were ten fetuses (45%) with normal venous Doppler; in seven of these cases, fetal heart biometry was partly abnormal. This study shows the feasibility of first and early second trimesters' fetal echocardiography and the applicability of cardiac biometry in these instances. In this context, early fetal heart biometry and NT thickness measurements may be complementary methods for the prenatal diagnosis of some major congenital heart defects. In early pregnancy, some cardiac defects like tricuspid valve dysplasia, coarctation of the aorta, aortic stenosis, tetralogy of Fallot or pulmonary stenosis may already show similar changes in the relation of the diameters of the fetal heart and great arteries, as seen in the second trimester. Therefore, evaluating the different cardiac ratios may have a high diagnostic value in early pregnancy.

Prenatal ultrasound diagnosis and management of body stalk anomaly: analysis of nine singleton and two multiple pregnancies.

OBJECTIVE: To determine prenatal ultrasonographic features and management of fetuses with body stalk syndrome in singleton and multiple gestations. METHODS: In a retrospective chart analysis we reviewed all cases with body stalk anomaly diagnosed in our prenatal unit between 1994 and 2001. During this time period we adopted a uniform approach to the investigation of cases of body stalk anomaly, including amniocentesis or chorionic villus sampling (CVS) for fetal karyotyping. A general schematic sonographic examination was performed to search for fetal abnormalities and was followed by detailed two-dimensional and color-coded Doppler echocardiography. Nuchal translucency (NT) measurements were performed before 14 weeks of gestation. Postmortem examinations of fetuses were performed following termination by induction with prostaglandin. RESULTS: Eleven fetuses with body stalk anomaly were diagnosed, including two multiple pregnancies complicated by discordant body stalk anomaly. The typical ultrasonographic features were a major abdominal wall defect, severe kyphoscoliosis, limb abnormalities, neural tube defects, and a malformed, short umbilical cord with a single artery. None of the fetuses demonstrated craniofacial defects. All placentae that were examined showed evidence of persistence of the extra-embryonic celomic cavity. NT measurements were abnormal in all cases. Fetal karyotyping was normal in ten cases. In one case CVS showed a mosaic trisomy 2 (46,XX/47,XX,+ 2). Selective fetocide was performed in one trichorionic-triamniotic triplet pregnancy in early gestation, which was followed by normal development of the remaining healthy dichorionic-diamniotic twins. In a monochorionic-diamniotic twin pregnancy with one affected fetus ultrasound surveillance showed the normal development of the unaffected twin. CONCLUSIONS: We present a large series of body stalk anomaly, including multiple gestations, with thoraco- and/or abdominoplacental attachment and without craniofacial defects. This specific phenotype may be explained by embryonic maldevelopment. The typical features of body stalk anomaly can be detected by ultrasound by the end of the first trimester, which is important for patient management. Consequently, this anomaly should be distinguished from other fetal abdominal wall defects.

Comparison of ductus venosus blood flow waveform indices of 607 singletons with 133 multiples at 10-14 weeks gestation. An evaluation in uncomplicated pregnancies.

Abnormal flow profiles in the ductus venosus during early pregnancy may aid in diagnosing chromosomopathies, malformations, congenital heart disease, and twin-twin transfusion syndrome in monochorionic twins. Whereas reference values of ductus venosus flow velocities and waveform indices for the late first and early second trimester have been reported in singletons, similar reference values for multiple pregnancies have not been established in this age group. Therefore, the aim of the present ultrasound study in 119 multichorionic and 14 monochorionic multiples in human fetuses between 10-14 weeks of gestation was to establish reference values for ductus venosus flow waveform indices for multiple pregnancies. Data in multiples were compared with those of 607 singletons. Analysis of the ductus venosus (DV) flow velocity waveforms consisted of the calculation of the pulsatility index (PIV) and peak velocity index (PVIV) for veins. Comparing the data of singletons and multichorionic multiples, no statistically significant differences were observed between the two groups in any of the assessed Doppler parameters. The DV Doppler parameters of the 14 monochorionic twins that were analysed separately in order to avoid any potential bias from preclinical twin-twin transfusion syndrome were also found within the normal ranges. In the study population fetal heart rate did neither significantly correlate with PIV nor with PVIV. PIV and PVIV decreased from 10 to 14 weeks gestation. A 2.9% rate of absent or reverse flow during atrial contraction in normal fetuses at 10-14 weeks gestation was found and needs to be taken into consideration when this pattern is defined abnormal in screening tests for fetal chromosomopathies or congenital heart disease.

First-trimester diagnosis of fetal hepatic cyst.

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.

Fetal hydrops and hepatosplenomegaly in the second half of pregnancy: a sign of myeloproliferative disorder in fetuses with trisomy 21.

OBJECTIVE: To demonstrate the relationship between fetal hydrops and/or hepatosplenomegaly in the second half of pregnancy with a myeloproliferative disorder in fetuses with trisomy 21 or mosaic trisomy 21. DESIGN: A retrospective case series. SUBJECTS: Cases were selected from 79 cases of trisomy 21 diagnosed in our prenatal unit between 1993 and 1999. METHODS: All fetuses had a detailed sonographic anatomic survey and biometry. Doppler of the umbilical and middle cerebral arteries, ductus venosus, inferior vena cava and umbilical vein was performed whenever possible. Two-dimensional echocardiography supplemented by color Doppler flow mapping and spectral pulsed wave Doppler was performed in all cases of fetal hydrops. Fetal karyotyping was obtained by amniocentesis, chorionic villus sampling or fetal blood sampling. In the presence of fetal hydrops a cordocentesis was performed for fetal hematology, biochemistry and TORCH serology. In cases with diagnosis of myeloproliferative disorder, peripheral blast cells were characterized by microscopy, cytochemistry and determination of surface markers. All cases with myeloproliferative disorder were stillborn and subsequently had a postmortem examination performed. RESULTS: During the study period 79 cases of trisomy 21 were diagnosed. Eleven of these had fetal hydrops. Three of these fetuses presented with hepatosplenomegaly and myeloproliferative disorder in the second and third trimesters. In addition, one fetus with sonographic markers of trisomy 21, where karyotyping was unfortunately unsuccessful, presented with hepatosplenomegaly, hydrops and myeloproliferative disorder. In the four fetuses with hepatosplenomegaly and hydrops, serology was negative for congenital infection. The characteristics of blast cells in the peripheral blood smear revealed a myeloproliferative disorder. CONCLUSION: 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.

Biometry of the fetal heart between 10 and 17 weeks of gestation.

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.

Longitudinal observations in normally grown fetuses with tricuspid valve regurgitation: report of 22 cases.

Longitudinal observations of tricuspid valve regurgitation were prospectively performed in 22 singleton fetuses with normal anatomy, normal biometry and normal Doppler to determine the characteristics of functional tricuspid valve regurgitation. Tricuspid valve regurgitation was semi-quantified by spatial and temporal Doppler-derived parameters. In 18 cases tricuspid valve regurgitation was part-systolic (early and mid-systolic) and showed little spatial expansion of the jet as examined by colour Doppler flow imaging. In 16 of these 18 cases the maximum velocity of these regurgitant jets was below 2.00 m/s. Four fetuses demonstrated holosystolic regurgitant jets and in addition to the longer duration of these jets, the spatial expansion was also greater and the maximum velocity was slightly higher compared with the part-systolic tricuspid valve regurgitations. Re-examination of the 22 normally grown fetuses showed that tricuspid valve regurgitation was a transient phenomenon. Within a period of one to seven weeks after the diagnosis of tricuspid valve regurgitation, the regurgitation could no longer be demonstrated in any of these cases, including the four fetuses with holosystolic regurgitant jets. Tricuspid valve regurgitation was the only detected abnormality in all of these cases. The fetal outcome of the 22 normally grown fetuses with tricuspid valve regurgitation was unremarkable concerning the evaluated parameters. Although fetal tricuspid valve regurgitation may be a sign of increased preload, afterload or cardiac dysfunction, in most cases tricuspid valve regurgitation is an isolated transient phenomenon with little temporal and spatial expansion; nevertheless in some cases holosystolic tricuspid valve regurgitation may also be an isolated transient finding, and it may be a functional phenomenon.

Functional pulmonary valve regurgitation in the fetus.

OBJECTIVE: The purpose of this study was to determine the prevalence and the characteristics of functional pulmonary valve regurgitation in normally grown fetuses. DESIGN: A prospective cross-sectional study. SUBJECTS: A total of 1115 singleton fetuses between 18 and 41 weeks of gestation and who had normal heart anatomy, normal estimated weight for gestational age and normal flow velocity waveforms in the umbilical and middle cerebral arteries and umbilical vein were examined. Cases with agenesis, constriction or other abnormalities of the ductus arteriosus were excluded. METHODS: Examination of the pulmonary valve was performed by color Doppler echocardiography, pulsed wave Doppler and, if necessary, continuous wave Doppler in the short-axis view at the level of the origin of the great arteries and/or in a subcostal view of the right ventricular outflow tract and pulmonary trunk. If pulmonary valve regurgitation was detected by color Doppler flow imaging and confirmed by pulsed wave Doppler echocardiography, the maximum velocity of the regurgitant jets as well as their maximum lengths were measured. RESULTS: The prevalence of functional pulmonary valve regurgitation was 0.54% (n = 6). Pulmonary valve regurgitation was part diastolic in four cases and holodiastolic in two cases, with maximum velocity of < or = 2.05 m/s and maximum length of 3-8 mm. Prenatal re-examination of five of the six fetuses with pulmonary valve regurgitation showed that pulmonary valve regurgitation was a transient phenomenon in four cases. The fetal outcome in the presence of transient pulmonary valve regurgitation was normal; pediatric echocardiographic examination in these six fetuses with transient pulmonary valve regurgitation showed no regurgitations or other cardiac anomalies. CONCLUSIONS: Pulmonary valve regurgitation was functional in all six fetuses.

The prevalence and clinical significance of tricuspid valve regurgitation in normally grown fetuses and those with intrauterine growth retardation.

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.