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Biomedical subjects

G Pilu

Publications and source records attributed to G Pilu.

At least 19 recordsLinked to original sources
PubMed2007

A novel technique for visualization of the normal and cleft fetal secondary palate: angled insonation and three-dimensional ultrasound.

OBJECTIVE: To evaluate the effectiveness of a novel approach to the visualization of the fetal secondary palate using three-dimensional (3D) ultrasound. METHODS: Sonographic examinations were performed in normal fetuses and in one fetus with cleft lip and palate. To avoid acoustic shadowing from the alveolar ridge, the secondary palate was insonated at a 45 degrees angle in the sagittal plane, and 3D ultrasound was used to reconstruct axial and coronal planes. RESULTS: The secondary palate was successfully visualized in 10 of 15 normal fetuses, both in the axial and coronal planes. In the fetus with cleft lip and palate the lesion of the secondary palate was clearly demonstrated, particularly in the coronal plane. CONCLUSION: Angled insonation and 3D ultrasound allow clear visualization of normal and cleft secondary palate.

Cleft Lip↗
PubMed2006

Accurate neurosonographic prediction of brain injury in the surviving fetus after the death of a monochorionic cotwin.

OBJECTIVE: To assess the feasibility of the prenatal diagnosis using fetal neurosonography of brain injuries in the surviving fetus after the demise of a monochorionic cotwin. METHODS: This was a retrospective observational study in the period 1990-2004 of monochorionic twin pregnancies with a single fetal demise. A detailed sonographic evaluation of the intracranial anatomy of the surviving twin had been performed whenever possible using a multiplanar approach and from 1999, fetal magnetic resonance imaging was offered as well. Postnatal follow-up was obtained in all cases. RESULTS: In six of nine cases, abnormal neurosonographic findings were identified including intracranial hemorrhage, brain atrophy, porencephaly and periventricular echogenicities evolving into polymicrogyria. Prenatal diagnosis of brain lesions was confirmed postnatally and all affected infants who survived had severe neurological sequelae. Two fetuses had normal cerebral structures both on the prenatal neurosonogram and on postnatal imaging and were following normal developmental milestones, one at 1 and the other at 5 years of age. In one case the neurosonographic examination was suboptimal and the infant was found at birth to have a porencephalic cyst. Fetal magnetic resonance imaging was performed in two cases and confirmed the ultrasound diagnosis. CONCLUSIONS: Prenatal neurosonography is a valuable tool for the prediction of neurological outcome in fetuses surviving after the intrauterine death of a monochorionic cotwin. Although our experience is limited, we suggest that magnetic resonance imaging should also be offered.

Brain Diseases↗
PubMed2006

Diagnosis of midline anomalies of the fetal brain with the three-dimensional median view.

OBJECTIVE: To investigate the effectiveness of a simplified approach to the evaluation of the midline structures of the fetal brain using three-dimensional (3D) ultrasound. METHODS: Sonographic examinations were performed in normal fetuses and in cases with anomalies involving the midline cerebral structures. Two-dimensional (2D) median planes were obtained by aligning the transducer with the anterior fontanelle and midline sutures by either transabdominal or transvaginal scans. Median planes were also reconstructed using 3D ultrasonography from volumes acquired from transabdominal axial planes of the fetal head (3D median planes), by either multiplanar analysis of static volumes or volume contrast imaging in the coronal plane (VCI-C). 2D and 3D median planes were compared qualitatively and quantitatively by measuring the corpus callosum and cerebellar vermis. RESULTS: 2D median planes could be visualized in 54/56 normal fetuses. 3D median planes were obtained in all, usually more easily and rapidly. There was a good correlation between 2D and 3D images. Measurements of the corpus callosum and cerebellar vermis were highly correlated, with mean variations of 6% and 14%, respectively. The abnormal group included 13 fetuses (five with partial or complete agenesis of the corpus callosum, six with posterior fossa malformations, two with a combination of these two anomalies). In all cases the diagnosis could be made by both 2D and 3D views and was always confirmed by postnatal investigation. Although 2D median views were of better quality, 3D images were always adequate for diagnosis, both in normal and abnormal fetuses. CONCLUSIONS: 3D median planes are obtained more easily than 2D ones, and allow an accurate diagnosis of normal cerebral anatomy and anomalies. The 3D approach may be valuable particularly for rapid assessment of fetal cerebral anatomy in standard examinations.

Agenesis of Corpus Callosum↗
PubMed2006

Prenatal diagnosis of open and closed spina bifida.

OBJECTIVE: To identify criteria useful for differentiating closed from open spina bifida antenatally. PATIENTS AND METHODS: A retrospective study of cases of spina bifida diagnosed in a referral center between 1997 and 2004. RESULTS: Of 66 cases of fetal spina bifida diagnosed at a median gestational age of 21 (range, 16-34) weeks, detailed follow-up was available for 57. Of these, open defects were found in 53 (93.0%) and closed defects in four (7.0%). Closed spina bifida was associated in two cases with a posterior cystic mass with thick walls and a complex appearance, while in two cases the spinal lesion could not be clearly differentiated from an open defect, particularly at mid-gestation. Open spina bifida was always associated with typical alterations of cranial anatomy, including the so-called 'banana' and 'lemon' signs, while in closed spina bifida the cranium was unremarkable. When the data were available, levels of amniotic fluid alpha-fetoprotein were always abnormally elevated with open spina bifida and within normal limits with closed forms. CONCLUSION: In this study 7% of cases of spina bifida diagnosed in utero were closed. The differentiation between open and closed forms is best shown by the sonographic demonstration of abnormal or normal cranial anatomy.

Diagnosis, Differential↗
PubMed2005

Difficult early sonographic diagnosis of absence of the fetal septum pellucidum.

Standard sonographic views of the brain obtained along the axial planes at mid-gestation failed to identify absence of the septum pellucidum in two consecutive fetuses. It was presumably the close proximity of the walls of the lateral ventricles that generated an artifact resembling a normal cavum septi pellucidi. In one of these fetuses, septo-optic dysplasia was confirmed by magnetic resonance demonstration of hypoplastic optic tracts. In the other fetus, isolated absence of the septum pellucidum was the final diagnosis. Standard axial scans are unreliable in predicting absence of the septum pellucidum in the mid-trimester fetus when the lateral ventricles are normal in size.

Adolescent↗
PubMed2004

Prenatal diagnosis of a complete mole coexisting with a dichorionic twin pregnancy: case report.

A complete mole coexisting with dichorionic twins was diagnosed by the combined use of sonography and chorionic villus sampling at 10 weeks gestation. The pregnancy resulted in the death of one fetus at 31 weeks from presumed feto-maternal haemorrhage, while the other fetus survived in good condition. A summary of the available literature, combined with this report, reveals a total of seven pregnancies with twins and a coexistent complete mole. Only two out of 14 fetuses survived. Maternal complications included one case of pre-eclampsia and one persistent trophoblastic tumour. Accurate diagnosis of complete mole is possible by genetic analysis of chorionic villi obtained with standard transabdominal sampling. Twins with a coexistent complete mole will usually undergo miscarriage. However, fetal survival is possible and the maternal risks seem limited. A concomitance between gestational trophoblastic disease and the occurrence of feto-maternal haemorrhage is observed.

Adult↗
PubMed2004

Sonographic demonstration of brain injury in fetuses with severe red blood cell alloimmunization undergoing intrauterine transfusions.

OBJECTIVE: To assess sonographically brain anatomy in fetuses with severe anemia due to red blood cell alloimmunization undergoing intrauterine intravascular transfusions. METHODS: Multiplanar neurosonography was performed in seven consecutive hydropic fetuses undergoing intrauterine transfusions (mean gestational age 22 +/- 2.5 weeks; mean hemoglobin concentration at the first transfusion 2.3 +/- 1.0 g/dL). RESULTS: Abnormal cerebral findings were identified in four out of seven fetuses. An intracerebellar hemorrhage developed in two fetuses after the first transfusion and one fetus that had severe brain edema before the first transfusion was later found to have cystic periventricular leukomalacia. In one fetus unilateral ventriculomegaly was noted after the first transfusion. Two fetuses were terminated. The remaining pregnancies had an uneventful course, the infants were delivered between 34 and 36 gestational weeks and were alive and well at the time of writing. Prenatal diagnosis of brain injury was always confirmed except for the case with ventriculomegaly that underwent spontaneous intrauterine resolution. CONCLUSIONS: Fetuses with extreme anemia due to red blood cell alloimmunization can be salvaged by intrauterine transfusion. In some of these cases brain injury may occur prenatally, and the risk seems to be particularly high when the hemoglobin concentration at the time of the first transfusion is <or= 2 g/dL. We suggest that in these pregnancies detailed fetal neuroimaging by either multiplanar sonography and/or magnetic resonance imaging is indicated.

Abortion, Therapeutic↗
PubMed2004

Tracheal agenesis: management of the first 10 months of life.

Tracheal agenesis is a potentially lethal congenital anomaly, appearing only at birth. We describe a newborn preterm infant who presented with immediate respiratory distress and no audible cry. There was almost complete tracheal agenesis with a very short segment of distal trachea (only two tracheal rings) arising from the anterior wall of the esophagus, before dividing into the mainstem bronchi. The anomaly was unsuspected prenatally, as the scan showed pyloric atresia and complex congenital cardiac disease. Despite the patient's difficult course, with correction of the rare-associated malformations (cardiac and gastrointestinal tract anomalies), the fact that the child is lively and neurologically normal for her age, requires that we now consider the patency of the airway and the possibility of surgical correction, in accordance with a good quality of life.

Abnormalities, Multiple↗
PubMed2003

Outcome of antenatally diagnosed intracranial hemorrhage: case series and review of the literature.

OBJECTIVES: Prenatal diagnosis of intracranial hemorrhage (ICH) has been widely reported. Hemorrhages may occur either within the cerebral ventricles, subdural space or infratentorial fossa. The aim of this study was to determine the sonographic criteria for the diagnosis of fetal ICH, the role of in utero magnetic resonance imaging (MRI) and the outcome of this condition. METHODS: The archives of our ultrasound laboratory and the literature were searched for all cases of antenatally diagnosed ICH. A grading system was used to classify the intraventricular lesions as suggested in postnatal sonographic studies. RESULTS: Adding our series of 16 fetuses to the 93 cases identified in the literature, a group of 109 fetal ICHs was obtained: 89 were intracerebral (79 intraventricular and 10 infratentorial) and 20 were subdural hemorrhages. Intraventricular lesions were mostly classified as severe (32 each for Grades III and IV). In 27 cases antenatal MRI was performed additionally to ultrasound and confirmed the sonographic findings. Of the entire group, 65 infants (59%) were reported to be alive 1 month after birth (51 intraventricular hemorrhages, three infratentorial hemorrhages, 11 subdural hematomas). At 12 months, of the 48 infants whose follow-up was available, 25 or 52% were judged neurologically normal (17/36 or 47% among the intraventricular hemorrhages, 6/9 or 66% among the hematomas, and 2/3 or 66% among the infratentorial hemorrhages). CONCLUSIONS: Fetal ICH may be accurately identified and categorized by antenatal sonography. The outcome is usually poor, especially for those fetuses affected by higher-grade intraventricular hemorrhages.

Cerebral Hemorrhage↗
PubMed2003

Sonography of pregnancies with first-trimester bleeding and a small intrauterine gestational sac without a demonstrable embryo.

OBJECTIVE: This was a prospective observational cohort study to evaluate the outcome and prognostic criteria of pregnancies with first-trimester bleeding and a gestational sac <or=16 mm without a demonstrable embryo. METHODS: Criteria for admission into the study included: (1) first-trimester bleeding; (2) a transvaginal scan performed upon admission demonstrating a single intrauterine gestational sac with a mean diameter <or=16 mm and without a demonstrable embryo. The outcome variable was miscarriage, defined as pregnancy loss prior to 22 weeks. The following explanatory variables were considered: maternal age, menstrual age, size of the gestational sac, presence or absence of the yolk sac and subchorionic hematoma, and beta-human chorionic gonadotropin levels. The relationship of these variables with pregnancy failure was analyzed by stepwise logistic regression. RESULTS: Of 50 patients, 32 (64%) underwent miscarriage. The receiver-operating characteristics (ROC) curve of the size of the gestational sac demonstrated a high level of statistical significance (area under the ROC curve 0.9080, P < 0.000001) and stepwise logistic regression revealed that this was the only variable independently correlated with the subsequent occurrence of miscarriage. DISCUSSION: It is commonly accepted that in pregnant patients with first-trimester bleeding, demonstration by transvaginal ultrasound of an intrauterine gestational sac <or=16 mm without an embryo may be compatible with a viable pregnancy. Our results suggest that in general this finding is associated with a poor outcome, with miscarriage occurring in two-thirds of patients. When the sac is small for gestational age, the risk of miscarriage is greatly increased. In the present series, a gestational sac diameter less than -1.34 standard deviations of the mean was associated with pregnancy failure in over 90% of cases.

Adult↗
PubMed2003

Sonographic diagnosis of congenital anomalies during the first trimester.

Current ultrasound technology allows an examination of fetal anatomy and the detection of anomalies at 12-15 weeks. Studies assessing the accuracy of early sonographic diagnosis prior to 15 weeks of pregnancy were reviewed. In expert hands the detection rate is about 40 per cent for major extra-cardiac anomalies and 65 per cent for major cardiac defects. However, due to technical and practical limitations, sonographic assessment of fetal anatomy in the first trimester cannot replace the midtrimester scan and should be restricted to couples whose fetus is at increased risk for malformation.

Adult↗
PubMed2002

Uterine and fetal cerebral Doppler predict the outcome of third-trimester small-for-gestational age fetuses with normal umbilical artery Doppler.

OBJECTIVE: To assess the value of different admission tests in predicting the outcome of small-for-gestational age (SGA) fetuses with normal Doppler waveforms in the umbilical artery. METHODS: Criteria for admission into this retrospective study included: singleton pregnancy with a birth weight < 10th centile; absence of severe maternal complications; no evidence of fetal anomalies on the sonogram; normal umbilical artery Doppler; and availability of complete follow-up. At the first antenatal sonogram classifying the fetus as SGA, Doppler analysis of the uterine and middle cerebral arteries was performed and amniotic fluid volume was assessed. Outcome variables included adverse perinatal outcome (perinatal death, severe morbidity) and emergency Cesarean section for fetal distress. RESULTS: Two hundred and thirty-one pregnancies were included in the study. The mean +/- standard deviation birth weight and gestational age at delivery were 2222 +/- 502 g and 37.3 +/- 2.9 weeks, respectively. In 37 cases (16%), an emergency Cesarean section was performed. There was one intrauterine death and three fetuses delivered by emergency Cesarean section developed severe morbidity. Logistic regression demonstrated that abnormal velocimetry of the uterine arteries and fetal middle cerebral artery were independently correlated with the occurrence of Cesarean section. CONCLUSIONS: SGA fetuses with normal umbilical artery Doppler waveforms and abnormal uterine arteries and fetal middle cerebral artery waveforms have an increased risk of developing distress and being delivered by emergency Cesarean section. Particularly when both uterine and fetal cerebral waveforms are altered at the same time, the risk is exceedingly high (86%) and delivery as soon as fetal maturity is achieved seems advisable. On the other hand, when both vessels have normal waveforms, the chances of fetal distress are small (4%) and expectant management is the most reasonable choice.

Confidence Intervals↗
PubMed2002

Two-dimensional ultrasound is accurate in the diagnosis of fetal craniofacial malformation.

OBJECTIVE: To assess the accuracy of antenatal ultrasound in the diagnosis of craniofacial malformations and to compare two-dimensional with three-dimensional ultrasound. METHODS: This was a retrospective study in which the archives of our ultrasound laboratory were searched for cases with an ultrasound diagnosis of craniofacial malformation in the period 1986-2001. No attempt was made to look for false-negative diagnoses. RESULTS: Sixty cases with an antenatal diagnosis of a craniofacial malformation were found: 37 with cleft lip/palate; 17 with heterogeneous dysmorphisms (including mostly micrognathia and craniosynostosis) and 6 with miscellaneous craniofacial malformations. Associated anomalies were present in 48/60 (80%) cases, and holoprosencephaly (25 cases) was the most frequent of these. In 43 (72%) cases the diagnosis was made before 24 weeks' gestation. Postnatal follow-up was available for 43 cases and there was always complete correlation between antenatal and postnatal diagnoses. Cleft lip/palate was always accurately differentiated from cleft lip. Three-dimensional ultrasound was performed in 12 cases and was successful in 11. However, it did not provide further diagnostic information with regard to the two-dimensional scan. DISCUSSION: Current two-dimensional ultrasound in expert hands allows an accurate diagnosis of craniofacial abnormalities from early gestation. In our hands, three-dimensional ultrasound did not add any valuable diagnostic information. Three-dimensional ultrasound may facilitate the understanding of the lesion by the parents and facilitate communication with the plastic surgeons. However, these potential benefits need to be carefully weighed against the costs of the ultrasound instrumentation, increased examination time and training of personnel.

Craniofacial Abnormalities↗