Two- and three-dimensional sonography of a monochorionic triplet gestation.
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Female↗
Biomedical subjects
G Pilu
Publications and source records attributed to G Pilu.
Diagnosis and management of fetal cardiac anomalies: 10 years of experience at a single institution.
OBJECTIVE: To assess the diagnostic accuracy of fetal echocardiography and the outcome of cardiac malformations diagnosed in utero. DESIGN: A retrospective study. METHODS: The archives of our ultrasound laboratory were searched for fetal cardiac abnormalities in the period 1991-2001. RESULTS: Diagnosis of a fetal cardiac anomaly was made in 339 pregnancies at a mean gestational age of 26.2 weeks. Pathology or a detailed postnatal follow-up was available in 260 cases, and the prenatal diagnosis was accurate in 236 cases (91%). Discrepancies included nine false positive diagnoses (six ventricular septal defects and three coarctation of the aorta) and 15 cases in which a cardiac anomaly different from the one suspected in utero was documented. Of the 142 fetuses with isolated cardiac malformations (no extracardiac anomalies, normal chromosomes) that were delivered in our center, 114 were alive (80.2%) at a mean follow-up of 38 months (range, 1-120 months). In this group of patients, conotruncal anomalies and univentricular lesions were the most frequent types of anomaly, and had a survival rate of 87% and 57%, respectively. Hypoplastic left heart was the most frequent isolated congenital heart defect in infants that were delivered (19 cases) and it was associated with a survival rate of 37%. CONCLUSION: In expert hands, fetal echocardiography is highly accurate. The long-term prognosis of cardiac lesions diagnosed in utero is similar to that reported in series of infants diagnosed after birth. The only exception is hypoplastic left heart in which the survival rate is much lower than expected from postnatal studies.
Echocardiography↗
Absence of the ductus venosus: report of 10 new cases and review of the literature.
OBJECTIVE: To assess the clinical significance of the absence of the ductus venosus. DESIGN: A retrospective study with a review of the literature. METHODS: The archives of our ultrasound laboratory and the English literature were searched for cases with a prenatal diagnosis of absence of the fetal ductus venosus. RESULTS: Between 1985 and 2000, 10 fetuses were diagnosed in our center as having absence of the ductus venosus. The review of the literature revealed 23 cases. Three main patterns of abnormal venous circulation were documented: (1) umbilical vein bypassing the liver and connecting directly to the right atrium (46%); (2) umbilical vein bypassing the liver and connecting to the inferior vena cava mostly through one of the iliac veins (25%); (3) umbilical vein connecting to the portal circulation without giving rise to the ductus venosus (21%). Major anomalies, including chromosomal aberrations, were found in 8/33 (24%) cases. Hydrops developed in 11/33 (33%) cases. Twenty fetuses with isolated absence of the ductus venosus were delivered, and 5 (20%) died. The portal vein was found to be absent in half of the infants examined after birth. CONCLUSIONS: Our results and the review of literature suggest that absence of the ductus venosus is associated with a high incidence of fetal anomalies and adverse outcomes, including associated malformations, chromosomal aberrations, in utero heart failure and absence of the portal vein. Heart failure and absence of the portal vein seem particularly frequent when absence of the ductus venosus is associated with a connection of the umbilical vein to either the inferior vena cava or the right atrium.
Congenital Abnormalities↗
Prenatal diagnosis of thrombosis of the dural sinuses with real-time and color Doppler ultrasound.
OBJECTIVE: To assess the sonographic findings and clinical implications of fetal thrombosis of dural sinuses. DESIGN: Retrospective study of cases with a prenatal diagnosis of thrombosis of the dural sinuses. RESULTS: The diagnosis of fetal thrombosis of the dural sinuses was established in three uncomplicated pregnancies at 21, 22 and 28 weeks' gestation by transabdominal and transvaginal sonography, demonstrating a blood clot within the dilated dural sinuses, always in the region of the torcular Herophilii. The diagnosis was further confirmed by the color Doppler demonstration of absence of blood flow within the dilated dural sinuses. Upon request of the couples two pregnancies were terminated. One infant was delivered at term by Cesarean section and died during neurosurgery. CONCLUSIONS: Thrombosis of the cerebral venous circulation can occur antenatally. Accurate diagnosis can be made using fetal real-time and color Doppler ultrasound.
Blood Flow Velocity↗
Isolated major congenital heart disease.
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Female↗
The transfrontal view: a new approach to the visualization of the fetal midline cerebral structures.
The objective of this study was to assess the feasibility of using the frontal suture as an acoustic window to visualize sonographically the midline cerebral structures (transfrontal view) in midtrimester fetuses. The study design was prospective and observational. In 124 healthy fetuses and in 2 fetuses with agenesis of the corpus callosum at 19 to 24 weeks' gestation, an attempt was made to obtain a transfrontal view by using transabdominal sonography. The transfrontal view was successfully and rapidly obtained in 110 (89%) of the healthy fetuses; it always provided detailed visualization of the entire corpus callosum, cavum septi pellucidii, third ventricle, brain stem, fourth ventricle, vermis cerebelli, and cisterna magna. The anatomic information was comparable with that obtained from a median sagittal scan obtained through the anterior fontanelle. In both fetuses with agenesis of the corpus callosum, the transfrontal view provided clear evidence of the anomaly. The transfrontal view is feasible in midtrimester fetuses and allows rapid demonstration of the cerebral midline structures and the corpus callosum in particular. It may be helpful in the diagnosis or exclusion of cerebral anomalies, and at least in some cases, it may obviate the need for a transvaginal examination. The transfrontal view may also be used to standardize the scanning plane for the evaluation of the fetal facial profile.
Agenesis of Corpus Callosum↗
The Dandy-Walker complex and fetal sonography.
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Brain↗
Transabdominal sonography of the cavum septum pellucidum in normal fetuses in the second and third trimesters of pregnancy.
OBJECTIVES: To assess the visualization rate and size of the cavum septum pellucidum (CSP) by transabdominal sonography in normal fetuses throughout pregnancy. METHODS: The CSP was prospectively researched and measured using an axial transventricular plane in 286 consecutive uncomplicated singleton pregnancies between 15 and 41 weeks of gestation. RESULTS: The CSP was seen in 40% of cases at 15 weeks, 82% at 16-17 weeks, 100% at 18-37 weeks and 79% at 38-41 weeks. Compared to biparietal diameter (BPD), the visualization rate was 33% between 31 and 32 mm, 45% between 33 and 34 mm, 84% between 35 and 43 mm, 100% between 44 and 88 mm and 86% between 89 and 99 mm. Mean CSP width was 5.3 +/- 1.7 mm (range 2-9 mm). The CSP width increased with gestational age and BPD but with a slight decrease around term. CONCLUSIONS: In normal fetuses the CSP should always be visualized between 18 and 37 weeks, or with a BPD of 44-88 mm. Failure to observe the CSP in this interval, or possibly the presence of a large CSP, may indicate abnormal cerebral development and warrant further investigation. Conversely, absence of the CSP prior to 18 weeks, or later than 37 weeks, is a normal finding.
Female↗
Ultrasound of the fetal central nervous system.
Current ultrasound equipment allows the antenatal identification of many central nervous system anomalies from early gestation. In selected cases, special techniques (transvaginal sonography, three-dimensional ultrasound, colour Doppler) may enhance the diagnostic potential. Diagnostic accuracy, however, remains heavily dependent upon the expertise of the sonologist. Fetal ultrasound is effective in identifying neural tube defects, although alpha-fetoprotein screening seems to yield a greater sensitivity. The sensitivity in the diagnosis of central nervous system malformations other than neural tube defects remains unclear because of the ascertainment biases of the few large prospective studies that have been carried out so far. Magnetic resonance imaging may play a major role in the evaluation of cases with suboptimal ultrasound visualization, or when specific anomalies are suspected, such as intracranial haemorrhage or migrational disorders.
Central Nervous System↗
Can transvaginal fetal biometry be considered a useful tool for early detection of skeletal dysplasias in high-risk patients?
OBJECTIVE: To evaluate the possibility of an early diagnosis of skeletal dysplasias in high-risk patients. METHODS: A total of 149 consecutive, uncomplicated singleton pregnancies at 9-13 weeks' amenorrhea, with certain menstrual history and regular cycles, were investigated with transvaginal ultrasound to establish the relationship between femur length and menstrual age, biparietal diameter and crown-rump length, using a polynomial regression model. A further eight patients with previous skeletal dysplasias in a total of 13 pregnancies were evaluated with serial examinations every 2 weeks from 10-11 weeks. RESULTS: A significant correlation between femur length and crown-rump length and biparietal diameter was found, whereas none was observed between femur length and menstrual age. Of the five cases with skeletal dysplasias, only two (one with recurrent osteogenesis imperfecta and one with recurrent achondrogenesis) were diagnosed in the first trimester. CONCLUSIONS: An early evaluation of fetal morphology in conjunction with the use of biometric charts of femur length against crown-rump length and femur length against biparietal diameter may be crucial for early diagnosis of severe skeletal dysplasias. By contrast, in less severe cases, biometric evaluation appears to be of no value for diagnosis.
Achondroplasia↗
The clinical significance of fetal isolated cerebral borderline ventriculomegaly: report of 31 cases and review of the literature.
OBJECTIVE: To assess the clinical significance of fetal isolated borderline cerebral lateral ventriculomegaly defined as a width of the atrium of the lateral cerebral ventricles of 10-15 mm in the absence of other sonographically demonstrable malformations. DESIGN: Retrospective study of the outcome of fetuses with a sonographic diagnosis of isolated borderline cerebral lateral ventriculomegaly and review of the English-language literature. RESULTS: Of 31 fetuses, two had chromosomal aberrations (trisomy 21 and trisomy 13) and three had neurological complications (one infant developed shunt-dependent hydrocephalus, one lissencephaly and one cerebral hemorrhage and periventricular leukomalacia). The literature search revealed eight independent studies. Including the present series, 234 cases were available for analysis. An abnormal outcome was documented in 22.8% of cases. Perinatal death occurred in 3.7%. Chromosomal aberrations, mostly trisomy 21, were present in 3.8%, malformations undetected at a second-trimester sonogram in 8.6% and neurological sequelae, mostly a mild to moderate delay in cognitive and/or motor development, were present in 11.5%. The risk of an abnormal neurological outcome was increased in females versus males (22.6% versus 4.6%, relative risk 4.892; 95% confidence interval 1.356-17.656), when the atrial width was 12 mm or more (13.9% versus 3.8%, relative risk 3.6, 95% confidence interval 1.035-12.846) and when the diagnosis was made in the second trimester versus later in gestation. CONCLUSIONS: In most cases, isolated borderline cerebral lateral ventriculomegaly has no consequence. However, this finding carries an increased risk of cerebral maldevelopment, delayed neurological development and, possibly, chromosomal aberrations. The optimal management of these cases remains uncertain.
Chromosome Aberrations↗
Pattern analysis for ultrasound anomalies in fetuses with normal karyotype.
Two hundred cases of double or multiple anomalies (up to five in the same fetus) out of 828 karyotypically normal fetuses with at least one ultrasound finding were enrolled in the present study. One hundred and sixty patterns belonging to 200 fetuses were found. Then, we included in the final analysis only those double or triple patterns of anomalies with frequency more then 1. Thus, 123 cases and 83 patterns were analyzed. A double pattern was intended as any combination of ultrasound findings present in the same fetus. Exact Chi-square test was used to evaluate the specificity of the association of the most frequent patterns. The association of patterns was expressed as ratio between observed and expected frequency (O/E) ratio. Pattern analysis was used as statistical tool to calculate the number of possible associations of ultrasound finding. Anomalies of fluid distribution, as well as Central Nervous System malformations, and facial malformations were among the most significant associations. Among the triple patterns, Cleft Lip + Cleft Palate + Holoprosencephaly showed the highest degree of association. Antenatal diagnosis of ultrasound finding can benefits by considering the present results.
Abnormalities, Multiple↗
Prenatal diagnosis of microcephaly assisted by vaginal sonography and power Doppler.
In two mid-trimester fetuses with microcephaly, transvaginal sonography revealed aberrant findings, including large subarachnoid spaces and a rudimentary shape of the lateral ventricles. In one of these fetuses, power Doppler ultrasound demonstrated a discrepancy in the size of the signals generated by the intracranial arteries branching from the internal carotids and those branching from the vertebral arteries, and this was interpreted as the consequence of a reduced blood supply to the undersized cerebral hemispheres. We suggest that evaluation of intracranial anatomy by transvaginal sonography and power Doppler examination of the cerebral vessels may be of value in the diagnosis of fetal microcephaly.
Abortion, Legal↗
Sonographic demonstration of nuchal cord and abnormal umbilical artery waveform heralding fetal distress.
Ultrasound examination of a 30-week fetus, appropriate for gestational age, revealed a nuchal cord and absence of end-diastolic velocities in the Doppler waveforms of the umbilical artery. Cardiotocography suggested impending fetal distress, clinically confirmed following expedient abdominal delivery. We suggest that Doppler velocimetry of the umbilical vessels may be useful in the assessment of viable fetuses with a sonographic diagnosis of a nuchal cord. Conversely, a nuchal cord should be considered as part of the differential diagnosis of abnormal Doppler velocimetry of the umbilical vessels.
Blood Flow Velocity↗
Differential diagnosis and outcome of fetal intracranial hypoechoic lesions: report of 21 cases.
Our objective was to evaluate the diagnostic and prognostic value of sonography hypoechoic lesions. A retrospective study revealed revealed a total of 21 cases diagnosed over a period of 10 years. Most of the diagnosis were made in the third trimester. The presence fluid-filled lesions within the brain matter always predicted porencephaly and a poor outcome. In most of these cases (nine out of ten), the lesions were seen to communicate with the cavity of the lateral ventricles. Among the 11 cases of hypoechoic lesions that were external to the brain matter, Doppler ultrasound was always able to distinguish between arachnoid cysts (seven cases) and vein of Galen aneurysms (four cases). Arachnoid cysts were associated with a good outcome in four out of the five pregnancies that delivered at term. Three of the four cases of vein of Galen aneurysm were associated with distortion of the cerebral architecture and/or hydrops: one pregnancy was terminated and two resulted in early postnatal death. One pregnancy with vein of Galen aneurysm and normal cerebral structures, without signs of hydrops, had a good outcome. It is concluded that current antenatal ultrasound has the capability of accurate differentiation between different clinical entities resulting in fetal intracranial hypoechoic lesions, and that the sonographic findings have practical clinical implications.
Arachnoid Cysts↗
Distribution of abnormal karyotypes among malformed fetuses detected by ultrasound throughout gestation.
A karyotype was obtained from 755 fetuses with structural anomalies detected by sonography between 13 and 40 weeks' gestation. Gestational age was found to have no influence on the prevalence of chromosomal aberrations. The incidence in the second and third trimesters of pregnancy was 15.7 and 17.5 per cent, respectively. The contribution of the different malformations to such proportions did, however, change throughout gestation. Cystic hygroma was by far predominant in the early second trimester, cardiac defects in the late second trimester, and duodenal atresia in late pregnancy. Our findings confirm that karyotyping of malformed fetuses is highly advisable; the importance of chromosomal investigation is not dependent on the gestational age at detection of the structural defect as the likelihood of finding a chromosomal anomaly during the second and third trimesters is quite similar. Spontaneous intrauterine selection of chromosomally abnormal fetuses is most likely counterbalanced by the limited accuracy of prenatal ultrasound in recognizing many fetal anomalies early in pregnancy.
Chromosome Aberrations↗
Ultrasound and molecular mid-trimester prenatal diagnosis of de novo achondroplasia.
In a low-risk pregnant patient at 21 weeks' gestation, ultrasound revealed shortening of fetal long bones compatible with achondroplasia. Funipuncture was performed and DNA analysis of fetal blood demonstrated the presence of the GR380R fibroblast growth factor receptor 3 (FGFR3), which is specifically associated with achondroplasia. After termination of the pregnancy, necropsy confirmed the prenatal diagnosis. A certain sonographic diagnosis of fetal de novo achondroplasia is rarely possible prior to viability. The specificity of the FGFR3 causative mutation has added a new diagnostic option which can be applied prenatally for diagnostic validation.
Achondroplasia↗
Receiver-operator characteristic curves for the ultrasonographic prediction of small-for-gestational-age fetuses in low-risk pregnancies.
OBJECTIVE: Our purpose was to assess the accuracy of third-trimester ultrasonographic biometry in the diagnosis of small-for-gestational-age fetuses in a low-risk obstetric population. STUDY DESIGN: A total of 1000 low-risk pregnancies were prospectively examined at 31 weeks' gestation. The diagnostic accuracy of the fetal abdominal circumference and estimated fetal weight according to 24 formulas in the literature were evaluated by the use of receiver-operator characteristic curves. RESULTS: The incidence of a birth weight <10th percentile was 8.2%. The diagnostic accuracies of abdominal circumference and estimated fetal weight were remarkably similar. None of the 24 formulas performed significantly better than the measurement of the abdominal circumference. At a specificity of 90%, 46% of infants with a birth weight <10th percentile and five of six cases with adverse perinatal outcomes were predicted. CONCLUSION: In a low-risk obstetric population third-trimester ultrasonographic biometry has limited value in predicting small-for-gestational-age fetuses, and estimation of fetal weight does not carry an advantage over measurement of the abdominal circumference. The optimal cutoff value remains uncertain. However, by accepting a 10% false-positive rate, half of small-for-gestational-age fetuses and most perinatal complications could be recognized.
Abdomen↗