Publications (12)26.69 Total impact
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Article: Diagnosis of congenital heart disease by early and second-trimester fetal echocardiography.
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ABSTRACT: The aim of this study was to compare the cardiac findings at 11 to 14 weeks' gestation with the second-trimester findings to evaluate the reliability of first-trimester echocardiography and the possibility of congenital heart disease evolution. The database of our fetal medicine unit was searched for all patients who had undergone fetal echocardiography at 11 to 14 and 18 to 22 weeks' gestation from 2005 to 2010. In all of the antenatally suspected cases of congenital heart disease, the diagnosis was established conclusively by postnatal echocardiography, surgery, or autopsy. Among the 870 fetuses included in the study, 802 were considered to have no abnormalities on both examinations. Thirty-six cases had abnormal findings on both examinations, and 32 had discordant findings. Among the 32 discordant findings, 6 cases had a false-positive diagnosis of congenital heart disease on early echocardiography, and 26 had a different diagnosis. In 14 of these 26 cases, the diagnosis was slightly different on the second-trimester examination, or the defect misdiagnosed in the first trimester was a minor one. In 6 of the remaining 12 fetuses, a major congenital heart disease was missed on the early echocardiography. In 6 cases, the congenital heart disease developed or progressed in severity in the second trimester. First-trimester echocardiography is feasible and seems to allow considerably earlier detection of major congenital heart disease. However, it should be kept in mind that although most forms of heart defects can be diagnosed early in pregnancy, some may develop and become apparent only later in gestation.Journal of ultrasound in medicine: official journal of the American Institute of Ultrasound in Medicine 04/2012; 31(4):563-8. · 1.25 Impact Factor -
Article: Brainstem-vermis and brainstem-tentorium angles allow accurate categorization of fetal upward rotation of cerebellar vermis.
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ABSTRACT: To evaluate the role of the brainstem-vermis (BV) and brainstem-tentorium (BT) angles in the differential diagnosis of upward rotation of the fetal cerebellar vermis. The BV and BT angles were measured retrospectively on median sonographic views of the brain in 31 fetuses at 19-28 weeks' gestation with upward rotation of the cerebellar vermis due to Blake's pouch cyst (n = 12), Dandy-Walker malformation (n = 12) and cerebellar vermian hypoplasia (n = 7). Eighty normal fetuses at 20-24 weeks were included as controls. In the control group, BV and BT angles were 9.1 ± 3.5° (range, 4-17°) and 29.3 ± 5.8° (range, 21-44°), respectively. The BV angle was significantly increased in each of the three subgroups of anomalies: Blake's pouch cyst (23 ± 2.8°; range, 19-26°), vermian hypoplasia (34.9 ± 5.4°; range, 24-40°) and Dandy-Walker malformation (63.5 ± 17.6°; range, 45-112°), the angle increasing with increasing severity of the condition. The BT angle had a similar pattern but there was overlap among the different groups. The BV angle and, to a lesser degree, the BT angle are simple and reproducible measurements that provide valuable additional information for the categorization of upward rotation of the fetal cerebellar vermis. From mid gestation, a BV angle > 45° is strongly suggestive of a Dandy-Walker malformation, while a measurement < 30° favors the diagnosis of a Blake's pouch cyst.Ultrasound in Obstetrics and Gynecology 01/2012; 39(6):632-5. · 3.01 Impact Factor -
Article: Fetal cardiac evaluation at 11-14 weeks by experienced obstetricians in a low-risk population.
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ABSTRACT: The aim of this study was to evaluate the detection rate of congenital heart diseases (CHD) in a low-risk population by performing cardiac evaluation during the first-trimester screening for chromosomal abnormalities. In this context, the role of four-chamber view, tricuspid regurgitation and abnormal ductus venosus flow in the screening for cardiac anomalies in a low-risk population was also investigated. The cardiac examination was performed by obstetricians with extensive experience in first- and second-trimester ultrasound (US). Follow-up US evaluations during the second and third trimesters were offered to all patients. In case of abnormal findings during routine assessment, fetal echocardiography was performed by a fetal cardiologist. Among the 4445 fetuses included in the study, 42 CHD were detected (39 diagnosed prenatally and 3 postnatally). In 27 cases, the fetal cardiologist confirmed the type of CHD diagnosed at US screening. In 1 case, the diagnosis was slightly different in the second trimester, and in 3 of the 26 correctly diagnosed in the first-trimester cases, the CHD developed and progressed in severity. A significant association of major CHD and US first-trimester markers was observed. First-trimester assessment of the fetal heart is feasible in a low-risk population when performed by experienced obstetricians. However, although most types of CHD can be diagnosed early in pregnancy, some may become apparent later in gestation.Prenatal Diagnosis 07/2011; 31(11):1054-61. · 2.11 Impact Factor -
Article: Impact of prenatal diagnosis on outcome of pulmonary atresia and intact ventricular septum.
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ABSTRACT: To determine the impact of fetal echocardiography on the management of pregnancy and of newborns affected by pulmonary atresia and intact ventricular septum (PAIVS) and to evaluate the outcome of infants with and without prenatal diagnosis of PAIVS. We searched our database for cases of PAIVS prenatally and postnatally diagnosed during the period January 1993-December 2009. Postnatal follow-up was available in all cases included in the study. Karyotyping and fluorescent in situ hybridization analysis for the DiGeorge critical region (22q11.2) were performed in all but one case. The study comprised 60 cases of PAIVS: 36 with (Group A) and 24 without (Group B) prenatal diagnosis. In Group A, there were two intrauterine deaths, six postnatal deaths (five early after birth) and one termination of pregnancy. In this group, radiofrequency (RF) perforation was successfully performed in 25 cases; 20/25 infants had a biventricular (BV) repair, without further operation in 13 of them. No patient of Group B died. In this group, RF perforation was successfully performed in 22 cases; 20/22 had a BV repair without further procedure in 15 of them. Prenatal diagnosis of PAIVS allows a reliable prognosis of severity and planning of proper surgical repair strategies. Fetuses that are prenatally diagnosed present a more severe spectrum of the disease; for the cases capable of getting through the neonatal period, the mortality rate and the need for further intervention were not significantly different when compared with babies with only postnatal diagnosis.The journal of maternal-fetal & neonatal medicine: the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 06/2011; 25(6):669-74. · 1.36 Impact Factor -
Article: Prenatal diagnosis and outcome of isolated vascular rings.
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ABSTRACT: The purpose of this study was to describe our experience in the ultrasound visualization and management of prenatally diagnosed isolated vascular rings. From January 2002 to December 2007, a total of 19 fetuses had a sonographic diagnosis of isolated vascular rings in 2 reference centers at a mean gestational age of 23 weeks. There were 8 cases of left aortic arch with aberrant right subclavian artery, 5 cases of double aortic arch, and 6 cases of right aortic arch with aberrant left subclavian artery. Two fetuses had associated trisomy 21 and 1 had a 22q11 microdeletion. Parents chose to terminate the pregnancy in all cases. Four patients successfully underwent surgical correction, and in 1 patient, tracheoplasty was also performed. In conclusion, isolated vascular rings can be accurately diagnosed prenatally by using the "3-vessel and trachea view" and "supra-aortic-branch view" that allow detection of vascular structures running around the trachea. Karyotyping and prenatal testing for 22q11 microdeletions should be offered to all parents. Affected children should undergo surgical correction as soon as symptoms of tracheal compression appear, avoiding tracheomalacia. Associated congenital tracheal stenosis should be excluded before surgery.The American journal of cardiology 03/2009; 103(3):416-9. · 3.58 Impact Factor -
Article: Prenatal diagnosis of chromosome 4 mosaicism: prognostic role of cytogenetic, molecular, and ultrasound/MRI characterization.
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ABSTRACT: Trisomy 4 mosaicism is extremely rare: herein we report the cytogenetic and molecular characterization and prenatal US findings of a case diagnosed prenatally. The diagnosis of level III mosaicism was established in cultured amniotic fluid cells (22.5%). At 22 weeks gestation, micrognathia and hypotelorism were suspected at 2-D sonography, and confirmed at 3-D examination. In addition, 2-D US showed cerebellar hypoplasia associated with borderline ventriculomegaly (confirmed at magnetic resonance imaging, MRI), spine deformity (hemivertebra), and a complete atrioventricular septal defect (AVSD). The pregnancy was terminated. Trisomy 4 mosaicism was confirmed in placental and fetal skin cultured cells. The cord blood karyotype was normal. Molecular analysis excluded uniparental disomy of chromosome 4, and indicated that the trisomy 4 was of maternal meiotic origin. In presence of chromosome 4 mosaicism, accurate fetal sonography and echocardiography are mandatory. Low level mosaicism and normal echographic examinations seem to be associated with good prognosis. In postnatal life, chromosome 4 mosaicism should be suspected, and cytogenetic analysis proposed of further tissues (i.e., skin), in presence of craniofacial dysmorphism, cardiac defects, and abnormal hands/feet, even if mental development is appropriate or only slightly impaired.American Journal of Medical Genetics Part A 08/2005; 136(1):66-70. · 2.39 Impact Factor -
Article: 22q11 deletions in fetuses with malformations of the outflow tracts or interruption of the aortic arch: impact of additional ultrasound signs.
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ABSTRACT: One hundred and forty-one consecutive cases of malformations of the outflow tracts or interrupted aortic arch (IAA), detected by fetal echocardiography, underwent detailed anatomy scan, karyotyping and fluorescence in situ hybridization analysis (FISH) to detect the prevalence of 22q11 microdeletion and to evaluate neonatal clinical findings and outcome according to the presence of the genetic defect. Then, we sought to investigate whether some prenatal ultrasound findings could help identify fetuses at higher risk of carrying the 22q11 microdeletion. Echocardiography and FISH for the DiGeorge critical region (22q11) were performed in all cases. 22q11 microdeletion was detected in 28 of 141 fetuses (19.8%). Intrauterine growth restriction (IUGR) appeared to be associated with the worst prognosis, being present in 2/2 intrauterine fetal deaths and 5/6 post-natal deaths. IUGR, additional aortic arch anomalies and thymic hypo/aplasia were significantly more frequent in fetuses with 22q11 microdeletion (p=0.011, 0.011 and <0.0001, respectively). Prenatal ultrasound thymus examination, performed on the last 84 fetuses, showed 75% sensitivity and 94% specificity. The combination of 2 predictors, namely, thymus defects and IUGR associated with additional aortic arch anomalies reached more than 90% sensitivity and 100% specificity. Our study demonstrates that 22q11 microdeletion occurs in 20% of malformations of the outflow tracts and IAA type B, as detected in utero, and that this association is significantly predicted by the presence of associated ultrasound findings: thymic hypo/aplasia, IUGR and additional aortic arch anomalies. The feasibility of a correct prenatal diagnosis should enable clinicians to provide the couple with further informative counselling and to plan adequate post-natal medical interventions.Prenatal Diagnosis 09/2003; 23(9):752-7. · 2.11 Impact Factor -
Article: Increased placental expression of tissue factor is associated with abnormal uterine and umbilical Doppler waveforms in severepreeclampsia with fetal growth restriction. J NEPHROL 2003; 16: 650-657
J NEPHROL. 01/2003; 16(16):650-657. -
Article: Prenatal diagnosis of ductus venosus agenesis and its association with cytogenetic/congenital anomalies.
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ABSTRACT: We present an observational study of 12 cases of anomalies of the umbilical and portal vein systems associated with absence of the ductus venosus (DV) diagnosed over the past 5 years. The hemodynamic implications of each pattern of umbilico-portal system anomalies associated with absence of the DV have been investigated, as well as the frequency and types of associated anomalies and their embryological origin. In all cases ultrasound, color Doppler, and cytogenetic investigations were performed. Four main patterns of abnormal venous circulation were documented: (1). the umbilical vein (UV) bypasses the liver and drains into the right atrium directly or through a dilated coronary sinus (three cases); (2). the UV bypasses the liver, with an infrahepatic or suprahepatic connection directly to the inferior vena cava (IVC) (two cases); (3). the UV bypasses the liver and drains directly into the iliac or renal veins (four cases); and (4). the UV drains directly into the portal veins (three cases). Among seven cases with other associated anomalies (58%), there were three cases of Turner's and Noonan's syndromes. Two fetuses and two neonates died and there were two terminations of pregnancy (TOP). In utero diagnosis of ultrasound patterns associated with DV anomalies is feasible. Fetal karyotyping should be considered, serial ultrasound examinations recommended and, in the presence of heart failure, delivery can be anticipated.Prenatal Diagnosis 12/2002; 22(11):995-1000. · 2.11 Impact Factor -
Article: Placental imbalance of vasoactive factors does not affect pregnancy outcome in patients treated with Cyclosporine A after transplantation.
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ABSTRACT: Endothelin-1 (ET-1) and nitric oxide (NO) have been suggested to have a focal role in the regulation of placental and fetal growth. Cyclosporine A (CsA) has been shown to strongly modulate ET-1 and NO synthesis and thus has the potential to affect fetal growth and maternal state. Eleven CsA-treated female kidney transplant recipients were recruited. Fourteen healthy pregnant women served as controls. Placental expression of ET-1 and tissue factor (TF) was evaluated by in situ hybridization, and NO synthase (NOS) was evaluated by staining with the reduced form of nicotinamide-adenine dinucleotide phosphate (NADPH)-diaphorase and in situ hybridization. Kidney transplant recipients showed a marked reduction in NADPH-diaphorase staining, as well as endothelial constitutive NOS (ecNOS) messenger RNA, whereas inducible NOS expression was unchanged. Normal placenta showed a strong positive ET-1 signal along the endothelium of uteroplacental arteries within the basal plate, which increased markedly in decidua of transplant recipients. Thus, transplant recipients showed a remarkable alteration in ET-1/ecNOS balance without alteration in fetal growth or maternal renal function. Next, we explored the state of placental endothelial cell activation downstream from vasoactive factors by evaluating TF gene expression. Transplant recipients did not show modification of TF transcript compared with healthy pregnant women. CsA potently affected the placental ET-1/ecNOS vasoactive balance. Nevertheless, newborns from transplant recipient mothers were appropriate for gestational age, and transplant recipients did not show systemic hypertension or impending renal damage. It is suggested that CsA may blunt the activation of endothelial cells and priming of endothelial-derived substances, which possibly lie downstream from the cited vasoactive agents.American Journal of Kidney Diseases 05/2002; 39(4):776-83. · 5.43 Impact Factor -
Article: Prenatal diagnosis and postnatal outcome of cardiac rhabdomyomas.
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ABSTRACT: To evaluate the sonographic appearance of suspected fetal cardiac rhabdomyomas and their evolution until delivery and in the postnatal period. The study group consisted of 6 patients at 23-37 weeks of gestation referred to our Ultrasonic Unit, between March 1992 and December 1998, for suspected fetal cardiac rhabdomyomas. The cardiac tumors were single in three cases and multiple in the other cases. The size ranged from 11 to 47 mm. In two cases the tumors arose from the right ventricle, in one case from the interventricular septum and in three cases from the left ventricle. Five infants are alive and in satisfactory hemodynamic compensation, but three of them developed tuberous sclerosis. In two infants a regression in the maximum diameter of the tumor masses has been observed. One child underwent surgical treatment at the age of six months and the baby died after surgery. Two-dimensional and Doppler echocardiography are useful non invasive methods to diagnose fetal cardiac rhabdomyomas and to monitor their influence on the fetal cardiac function. However they do not allow us to recognize which fetuses presenting with features compatible with rhabdomyomas will develop tuberous sclerosis.Journal of Perinatal Medicine 02/2002; 30(2):170-5. · 1.70 Impact Factor -
Article: Increased placental expression of tissue factor is associated with abnormal uterine and umbilical Doppler waveforms in severe preeclampsia with fetal growth restriction.
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ABSTRACT: This study investigated whether modifications of placental expression of endothelin-1 (ET-1), nitric oxide synthase (NOS) and tissue factor (TF) are associated with abnormal Doppler waveforms. Fourteen pre-term severe preeclamptic (PE) women with fetal growth restriction (FGR) and 14 normal preg nant women underwent serial Doppler examination of the uterine and umbilical arteries (UA). Placental ET-1 and T expression was evaluated by in situ hybridization, NOS by NADPH-diaforase staining and in situ hybridization Doppler evaluation was extended to 11 female kidney transplant recipients (Tx), without FGR and/or PE, in wh we previously demonstrated a strong modification of placental ET-1/NOS vasoactive balance. PE women showed a marked reduction of endothelial constitutive NOS (ecNOS) expression in the syncy tiotrophoblast layer of all villi, whereas ET-1 expression was unchanged. All cases showed abnormal uterine artery blood flow velocimetry, 13 out of 14 PE women showed abnormal UA Doppler waveforms. In contrast, all Tx women showed normal UA blood velocimetry, all but one woman displayed a normal uterine artery waveform pattern. The Doppler velocimetry abnormalities were significantly associated with only TF expression, which was markedly increased, exclusively, in the endothelial cells within the basal decidua of PE women. The modification of ET-1/NOS vasoactive balance, per se, did not lead to Doppler impedance modifica tions in the UA and uterine arteries, observed in pre-term PE women with FGR. Instead, Doppler velocimetry modi fications appeared to correlate with endothelial cell activation, as revealed by increased TF expression.Journal of nephrology 16(5):650-7. · 1.65 Impact Factor
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2002
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Università degli Studi di Bari Aldo Moro
Bari, Apulia, Italy
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