Difference in the frequency of types of inter-twin contact at 10-13 weeks' gestation: preliminary four-dimensional sonographic study.

OBJECTIVE: To evaluate the frequencies of various forms of inter-twin contact between monochorionic diamniotic (MD) and dichorionic diamniotic (DD) twins using four-dimensional (4D) sonography late in the first trimester of pregnancy. METHODS: Six MD and eight DD pregnancies were studied for 30 min with transabdominal 4D sonography at 10-11 and 12-13 weeks' gestation. The position of one fetus relative to the other was ascertained. The frequencies of 10 types of inter-twin contact were evaluated. RESULTS: There was no significant difference in the position of one fetus relative to the other at 11-13 weeks' gestation in MD and DD twins. There was a significant difference in the frequencies of head to arm contact between MD and DD twins at 12-13 weeks' gestation (p < 0.05). There were also significant differences in head to arm, head to trunk, arm to arm, and arm to trunk contact between 10 and 11 and 12 and 13 weeks' gestation in MD twins, respectively (p < 0.05). CONCLUSIONS: The difference in the frequency of the type of inter-twin contact in MD and DD twins at 10-13 weeks' gestation may be due to early fetal neuromuscular development and differentiation of the neuromuscular system. However, the data and their interpretation should be viewed with some degree of caution because of the small number of subjects studied.

Fetal reflex movement in twin pregnancies late in the first trimester: 4-D sonographic study.

The objective of this study was to evaluate reactions to touch in utero between twin fetuses using 4-D sonography late in the first trimester of pregnancy. Six monochorionic diamniotic (MD) and eight dichorionic diamniotic (DD) pregnancies were studied for 30 min with transabdominal 4-D sonography at 12-13 weeks' gestation. The frequencies of no reaction (twins appear to touch each other but there is no clear reaction) and reaction (twins appear to touch each other and there is a clear reaction by the co-twin) movements were evaluated. There was no significant difference in the rate of reaction movements between MD (median, 33.6%) and DD (median, 33.9%) twins. The median rate of reaction movements in all 14 twins was 33.9% (range, 27 to 64.1%). Our findings suggest that the incidence of reflex movement of the co-twin on being touched by the other twin late in the first trimester is more frequent than that assessed by conventional 2-D ultrasound.

A founder effect of c.1938delC in ITGB4 underlies junctional epidermolysis bullosa and its application for prenatal testing.

Junctional epidermolysis bullosa associated with pyloric atresia (JEB-PA) is one of the most severe inherited skin diseases, characterized by generalized blister formation and occlusion of the pylorus at birth. Most JEB-PA patients have mutations in the gene encoding ß4 integrin (ITGB4). No recurrent mutations in ITGB4 have been described as having founder effects. We collected three JEB-PA families with c.1938delC in ITGB4. Haplotype analysis using single nucleotide polymorphism markers throughout ITGB4 suggested one rare haplotype (2.8% of the Han Chinese and ethnic Japanese populations) in all alleles with c.1938delC. The parents of one of the three families sought prenatal diagnosis for a subsequent pregnancy. We succeeded in performing prenatal exclusion of JEB-PA using the foetal genomic DNA. Our study clearly demonstrated that recurrent c.1938delC in ITGB4 is a founder mutation in JEB-PA patients, and that genotyping of the mutation can be utilized for prenatal diagnosis of JEB-PA.

Antenatal ultrasonographic features of fetal capillary hemangioma in the posterior fossa.

A capillary hemangioma with hydrocephalus in the posterior fossa of a fetus was detected on ultrasonography at 38 weeks and 4 days of gestation. A well-defined, round tumor with a mixed pattern occupied the posterior fossa, and the normal cerebellum was significantly compressed by this tumor. No other anomaly was detected. Delivery was induced because of rapidly progressive hydrocephalus, and an otherwise healthy female infant weighing 2800 g was delivered vaginally at 39 weeks and 4 days of gestation. Histologic examination of the lesion through biopsy demonstrated capillary hemangioma. The tumor spontaneously decreased in size, and disappeared six months later. The child is now 2 years of age, and is developing normally.

Three-dimensional sonographic volume measurement of the fetal stomach.

The objective of this study was to measure the fetal gastric volume using three-dimensional (3-D) ultrasound during pregnancy. Three-dimensional sonographic examinations were performed involving 35 pregnant women from 12 to 38 weeks of gestation. The fetal gastric volume was monitored every 5 min for a minimum of 40 min (40-60 min) in each woman. The rotational technique with Virtual Organ Computer-aided AnaLysis (VOCAL) was used to calculate the fetal gastric volume. Maximum and minimum gastric volumes were curvilinearly associated with the gestational age, respectively (R(2) = 0.611, p < 0.0001, and R(2) = 0.407, p < 0.0001, respectively). A curvilinear relationship was noted between the functional capacity (maximum volume - minimum volume) of the fetal stomach and gestational age (R(2) = 0.531, p < 0.0001). The maximum volume change [(maximum volume - minimum volume/maximum volume) × 100] did not change during pregnancy (mean and standard deviation, 64.1% ± 16.1%). However, gastric emptying cycles could not be determined in this study because of the short observation period and small number of subjects. Our findings suggest that the fetal gastric volume calculated by conventional two-dimensional ultrasound in previous investigations is approximately one-third of the maximum volume using 3-D ultrasound in the present study and that 3-D ultrasound is a superior means of evaluating the fetal gastric volume in utero. However, the data and their interpretation in the present study should be viewed with some degree of caution because of the small number of subjects. Further studies involving a larger sample size are needed to confirm these findings.

Four-dimensional volume-rendered imaging of the fetal ventricular outflow tracts and great arteries using inversion mode for detection of congenital heart disease.

AIM: Using four-dimensional (4D) sonography with an inversion mode, we evaluated fetal ventricular outflow tracts and great vessels for the detection of congenital heart disease. METHODS: Volume datasets of the fetal heart were acquired with spatiotemporal image correlation (STIC), which uses automated transverse and longitudinal sweeps of the anterior chest wall. A total of 12 normal fetuses and seven fetuses with congenital heart disease (one case of double-outlet right ventricle, one case of tetralogy of Fallot, one case of transposition of the great arteries, one case of hypoplastic pulmonary artery with a large ventricular septal defect, and three cases of hypoplastic left heart syndrome) at 16-37 weeks of gestation were studied using transabdominal 4D sonography with an inversion mode. 4D inversion mode images of great arteries were evaluated. RESULTS: 4D ultrasound with an inversion mode demonstrated real-time 3D angiographic features of fetal cardiac outflow tracts in both normal and abnormal fetal hearts. This modality facilitated visualization of the relationships, size, and course of the outflow tracts, thus helping the examiner to more effectively understand the spatial relationships between the vessels. In normal fetal hearts, it was clearly shown that the pulmonary artery crosses in front of the aorta. In the three cases of hypoplastic left heart syndrome, an extremely small ascending aorta was evident. In the one case of tetralogy of Fallot, a relatively small pulmonary artery was noted. In the one case of hypoplastic pulmonary artery with a large ventricular septal defect, a markedly small main pulmonary artery was depicted. In the case of transposition of the great arteries, the vessels left the ventricles parallel to each other. In the case of double-outlet right ventricle, great arteries leaving the right ventricle in parallel were shown. CONCLUSION: 4D ultrasound in the inversion mode provides a means of evaluating fetal cardiac outflow tracts in 3D in real time. This technique may assist in the evaluation of spatial relationships between the great vessels and both ventricles, and the difference in the size of great vessels. Moreover, the inversion mode images should be more readily discernible than those obtained by conventional ultrasonography. 4D ultrasound in the inversion mode may be an important modality in future fetal cardiac research and in the evaluation of fetal congenital heart disease.

Four-dimensional sonographic assessment of inter-twin contact late in the first trimester.

OBJECTIVE: To evaluate the total number of inter-twin contacts between monochorionic diamniotic (MD) and dichorionic diamniotic (DD) twins using four-dimensional (4D) sonography late in the first trimester of pregnancy. METHOD: Six MD and 8 DD pregnancies were studied for 30 minutes with 4D sonography at 10-11 and 12-13 weeks of gestation. A total of 10 types of inter-twin contact was evaluated. RESULTS: There was a significant difference in the total number of all contacts between MD and DD twins at the 10-11 weeks of gestation (P<0.05). There was also a significant difference in the total number of contacts between 10-11 and 12-13 weeks of gestation in DD twins (P<0.05). CONCLUSION: Four-dimensional sonography provides a means of evaluating inter-twin contact in the first trimester of pregnancy and could be an accurate and reliable tool in studies of inter-twin behavior.

Real-time three-dimensional color Doppler fetal echocardiographic features of congenital heart disease.

The purpose of this report is to describe the real-time three-dimensional (3D) color Doppler fetal echocardiographic findings of congenital heart diseases. Two cases of fetal congenital heart disease were diagnosed antenatally by conventional two-dimensional fetal echocardiography and real-time 3D color Doppler fetal echocardiography. Conventional two-dimensional (2D) fetal echocardiography showed a hypoplastic left heart in one case, and a double-outlet right ventricle in the second case. Real-time 3D fetal echocardiography with instantaneous volume-rendered displays showed surgeon's eye views of intracardiac abnormal cardiac structures of the beating heart in both cases. Real-time 3D color Doppler fetal echocardiography depicted a subtle tricuspid regurgitant jet in hypoplastic left heart syndrome, and great arteries, left from the right ventricle, in parallel in a double-outlet right ventricle. Real-time 3D color Doppler fetal echocardiography may assist in the evaluation of fetal cardiac anatomy and hemodynamics, and offer the potential advantages relative to conventional 2D fetal echocardiography and Doppler flow mapping.

3D and 4D sonographic imaging of amniotic band syndrome in early pregnancy.

We present a case of amniotic band syndrome diagnosed with two-dimensional (2D), three-dimensional (3D), and four-dimensional (4D) sonography at 14 weeks and 5 days of gestation. Conventional 2D sonography revealed multiple amniotic bands, fetal acrania, deformed hand, gastroschisis, kyphoscoliosis, and club foot. 3D and 4D sonography revealed multiple amniotic bands swinging in the amniotic cavity with 1 of them attached to the fetal head, and the severe deformity of the fetal face.

Four-dimensional sonography with B-flow imaging and spatiotemporal image correlation for visualization of the fetal heart.

PURPOSE: To use B-flow imaging with 4-dimensional (4D) sonography and spatiotemporal image correlation (STIC) in the evaluation of normal fetal heart and congenital heart disease during pregnancy. METHOD: Volume data sets of the fetal heart were acquired with automated transverse and longitudinal sweeps of the anterior chest wall. We studied 13 normal fetuses and 2 fetuses with congenital heart disease (1 double-outlet right ventricle and 1 hypoplastic left heart syndrome) at gestation ages ranging from 13 to 39 weeks using transabdominal 4D B-flow sonography with STIC (4D BF-STIC). RESULTS: 4D BF-STIC demonstrated dynamic angiographic features in both normal and abnormal fetal hearts. 4D BF-STIC images could not be obtained in 2 normal fetuses at 18.1 and 33.1 weeks because of the high fetal heart rate and inappropriate fetal position. In normal fetal heart, characteristic hemodynamic changes in both atria and ventricles were clearly demonstrated in systole and diastole. 4D BF-STIC also allowed visualization of the relationship, size, and course of the outflow tracts, thus helping the examiner to better understand the relationships between the vessels. In a case of hypoplastic left heart syndrome, dramatic hemodynamic changes including the right atrium, right ventricle, and pulmonary artery were evident. In a case of double-outlet right ventricle with ventricular septal defect, left-to-right shunt flow through a ventricular septal defect was clearly shown, as were great arteries originating in parallel from the right ventricle. CONCLUSION: 4D BF-STIC provides a means of real-time 3-dimensional evaluation of fetal intracardiac and extracardiac hemodynamics in the second and third trimesters. This novel technique assists in the evaluation of fetal cardiac hemodynamics and may play an important role in future fetal cardiac research and in the evaluation of congenital heart disease in the fetus.

Three-dimensional sonographic features of a fetus with Wolf-Hirschhorn syndrome.

We present a case of fetal Wolf-Hirschhorn syndrome diagnosed by conventional two-dimensional and three-dimensional ultrasonography. Conventional two-dimensional ultrasonography revealed a diaphragmatic hernia, nuchal edema, and suspected hypospadias. Three-dimensional ultrasonography clearly showed a flattening of the face, a high forehead, a broad nasal bridge continuing to the forehead, exophthalmos, and micrognathia (resembling the appearance of a Greek warrior helmet), but conventional two-dimensional ultrasonography did not depict these findings. Prenatal chromosomal analysis confirmed the diagnosis of Wolf-Hirschhorn syndrome [46XY, del(4)(p15.2)]. Here we demonstrate how three-dimensional ultrasonography provided a novel visual depiction of the facial dysmorphism, which helped substantially in prenatal counseling.

Three-dimensional sonographic volume measurement of the fetal lung.

AIM: The objective of this longitudinal study was to evaluate the growth of the fetal lung in normal pregnancies, using 3-D ultrasound. METHODS: 3-D sonographic examinations were performed on 14 appropriate-for-gestational-age fetuses. Fetal lung volumes (left, right, and total lung volumes) were measured every 2-3 weeks from 20 weeks of gestational age until delivery. The common multiplanar technique was used to calculate fetal lung volume. RESULTS: Curvilinear relationships were found between the gestational age and left (R2 = 86.9%, P < 0.0001), right (R2 = 83.9%, P < 0.0001) and total (R2 = 83.8%, P < 0.0001) lung volumes. The data described in this study were fairly comparable with previous data from autopsy series. However, there were big differences for predicted values of the fetal total lung volumes using 3-D ultrasound among the present study and previous investigations. CONCLUSION: Our findings suggest that the standard curve for fetal lung volume using 3-D ultrasound provides a role for evaluating the normal lung growth in the fetus. However, we do cast doubt on the reliability and reproducibility of fetal lung volume measurements using 3-D ultrasound. Moreover, the data and its interpretation in our study should be taken with some degree of caution because of the small number of subjects studied. Further studies involving a larger sample size would be needed to confirm these findings.

Three-dimensional sonographic volume measurement of the fetal spleen.

AIM: The objective of this longitudinal study was to evaluate the growth of the fetal spleen in normal pregnancies, using three-dimensional ultrasound. METHODS: Three-dimensional sonographic examinations were performed on 14 appropriate-for-gestational-age fetuses. Fetal splenic volume was measured every 2-3 weeks after 20 weeks of gestational age until delivery. RESULTS: Curvilinear relationships were found between the gestational age and splenic volume (R(2) = 80.2%, P < 0.0001), and normal ranges of splenic volume measurements for estimating the growth of the fetal spleen during normal pregnancy were generated. We found that the splenic volume calculation based on the equation for the volume of the ellipsoid by conventional two-dimensional ultrasound in previous investigations is about twice as large as that using three-dimensional ultrasound in our study, whereas the present data described in this study is quite comparable with previous data from an autopsy series. CONCLUSION: Our findings suggest that the standard curve for the fetal splenic volume using three-dimensional ultrasound provides a superior means for evaluating the normal splenic growth in the fetus and for identifying splenic abnormalities in utero. However, the data and its interpretation in our study should be taken with some degree of caution because of the small number of subjects studied. Further studies involving a larger sample size would be needed to confirm these findings.

Real-time 3-dimensional echocardiographic features of fetal cardiac tumor.

We present a case of fetal cardiac tumors diagnosed using conventional 2-dimensional (2D) fetal echocardiography and real-time 3-dimensional (3D) echocardiography. Conventional 2D echocardiography revealed multiple cardiac tumors involving the right atrium, interventricular septum, and right and left ventricles. Real-time 3D echocardiography with instantaneous volume rendering showed the cardiac tumors in motion. The advantages and disadvantages of real-time 3D fetal echocardiography are discussed.

Three-dimensional sonographic volume measurement of the fetal cerebellum.

PURPOSE: The objective of this longitudinal study was to evaluate the growth of the fetal cerebellum in normal pregnancy by using three-dimensional ultrasound. METHODS: Three-dimensional sonographic examinations were performed for 13 appropriate-for-gestational-age fetuses. Fetal cerebellar volume was measured every 2 to 3 weeks after 20 weeks of gestational age until delivery. The common multiplanar technique was used to calculate the fetal cerebellar volume. RESULTS: A curvilinear relationship was found between gestational age and cerebellar volume (R(2) = 78.6%, P < 0.0001), and normal ranges of cerebellar volume measurements for estimating the growth of the fetal cerebellum during normal pregnancy were generated. The data gathered in this study were fairly comparable with previous data obtained using three-dimensional ultrasound. However, the normal ranges of cerebellar volume that we determined were relatively wide throughout pregnancy. CONCLUSIONS: Our findings suggest that a standard curve for fetal cerebellar volume using three-dimensional ultrasound can play a role in the evaluation of normal cerebellar growth in the fetus. However, we do cast doubt on the reliability and reproducibility of cerebellar volume measurement using three-dimensional ultrasound. Further studies involving a larger sample size and another technique (the rotational method with VOCAL) would be needed to confirm these findings.

Four-dimensional sonographic assessment of fetal facial expression early in the third trimester.

OBJECTIVE: To evaluate the characteristic patterns of facial expression in fetuses aged from 28 to 34 weeks using 4-dimensional (4-D) ultrasonography. METHODS: The faces of 10 healthy fetuses aged from 28 to 34 weeks were recorded continuously for 15 min with a 4-D ultrasonographic machine performing up to 25 frames per second. The occurrence rates of blinking, mouthing, yawning, tongue expulsion, smiling, scowling, and sucking were evaluated. RESULTS: Mouthing was the most frequent facial expression (median, 6.5; range, 2-19) whereas the least frequent were scowling (median, 1; range, 0-9) and sucking (median, 1; range, 0-2). Mouthing was evident in all fetuses and significantly more frequent than any other movement (P<.05). Yawning (median, 3; range, 0-6), smiling (median, 2; range, 0-9), and blinking (median, 1.5; range, 0-6) were observed in most cases. Tongue expulsion (median, 1.5; range, 0-5), scowling, and sucking were each observed in 6 cases. CONCLUSION: 4-D sonography provides a means of evaluating fetal facial expression early in the third trimester. It may be a key to predicting fetal brain function and well-being and an important modality in future fetal neurophysiologic research.

Antenatal three-dimensional sonographic features of early amnion rupture sequence.

BACKGROUND: Early amnion rupture sequence is rare, and its antenatal three-dimensional sonographic features have not been reported. CASE: A 24-year-old japanese woman, gravida 1, para 0, was referred to our sonography clinic during her 16th week of gestation because of multiple fetal anomalies. Three-dimensional sonography clearly showed scalp adhesion, skull defect, abdominal wall disruption, amputation of the right hand, kyphoscoliosis, and clubfeet. Delivery was induced at 17 weeks of gestation. Autopsy showed a 166 gram male fetus and confirmed the prenatal diagnosis of early amnion rupture sequence. CONCLUSION: Three-dimensional sonography provides further information for sonographers. This includes unique identification of the displayed anatomic plane, realistic and reliable depiction of multiple fetal anomalies, and visualization of complex fetal anomalies.

Nuchal translucency thickness and fetal cardiac flow velocity in normal fetuses at 11-13 weeks of gestation.

OBJECTIVE: To investigate the relationship between nuchal translucency thickness and cardiac flow velocity in normal fetuses at 11-13 weeks of gestation. SUBJECTS AND METHODS: Eighteen normal pregnancies were prospectively studied with transvaginal sonography and pulsed and color Doppler ultrasound. Flow velocities at the fetal atrioventricular valves (mitral and tricuspid valve) and outflow tract levels (ascending aorta and pulmonary artery), and at the descending aorta were recorded. Nuchal translucency thickness was also measured. RESULTS: Mitral peak velocity during early diastolic filling correlated with gestational age. Mitral peak velocities during early diastolic filling and atrial contraction, tricuspid peak velocity during early diastolic filling, ascending aorta peak velocity, and pulmonary artery peak velocity correlated well with nuchal translucency thickness. There was an inverse correlation between umbilical artery pulsatility index and gestational age. CONCLUSIONS: These results suggest that the increase of nuchal translucency thickness in normal fetuses at 11-13 weeks of gestation may be the consequence of changes in fetal cardiac functions.