Papers by Valentina De Robertis
Journal of Ultrasound in Medicine Official Journal of the American Institute of Ultrasound in Medicine, Apr 1, 2012
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Ultrasound in Obstetrics & Gynecology, 2015
to assess the risk of deletion 22q11.2 in fetuses with a prenatal diagnosis of right aortic arch ... more to assess the risk of deletion 22q11.2 in fetuses with a prenatal diagnosis of right aortic arch without intracardiac anomalies (RAA-no ICA) METHODS: a retrospective study of all fetuses with RAA-no ICA diagnosed prenatally in three referral Centres from 2004 to 2014. A detailed sonogram was obtained in each case, including visualization of thymus and of the head and neck vessel to identify the presence of an aberrant left subclavian artery (ALSA). Karyotype and FISH analysis for the diagnosis of 22q11.2 deletion were always offered either prenatally or postnatally. A clinical and echocardiographic examination was performed in live births and a post-mortem examination in case of termination of pregnancy. Deletion 22q11.2 was found in 7/82 cases (8.5 %, 95% CI 3.8 - 17.3 %). The incidence was particularly high when the thymus was small or non-visualized (7/7), and when other abnormal sonographic findings were present (4/10). Deletion 22q11.2 is present in a relevant proportion of fetuses with a prenatal diagnosis of RAA-no ICA. A detailed sonographic examination of the fetus and the assessment of the thymus in particular may be useful to further define the level of risk.
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4D Fetal Echocardiography, 2010
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Donald School Journal of Ultrasound in Obstetrics & Gynecology, 2007
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Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine, 2012
The aim of this study was to compare the cardiac findings at 11 to 14 weeks' gestation with t... more 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 ...
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Ultrasound in Obstetrics and Gynecology, 2006
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Ultrasound in Obstetrics and Gynecology, 2009
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Ultrasound in Obstetrics and Gynecology, 2006
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Journal of Maternal-Fetal and Neonatal Medicine, 2012
To determine the impact of fetal echocardiography on the management of pregnancy and of newborns ... more 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.
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Prenatal Diagnosis, 2011
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Congenital Heart Disease, 2014
To describe the antenatal and neonatal echocardiographic morphology and flow pattern of the ductu... more To describe the antenatal and neonatal echocardiographic morphology and flow pattern of the ductus arteriosus in patients with tetralogy of Fallot. We included patients with a prenatal diagnosis of tetralogy of Fallot between January 2006 and December 2012. Among the 52 fetuses with tetralogy of Fallot the severity of right ventricular outflow obstruction was considered mild in 32, moderate in 14, and severe in 6. In the mild right ventricular outflow obstruction group (n = 32) all had normal ductal morphology and flow pattern, eight (25%) elected for termination of pregnancy and two died in the neonatal period from extracardiac causes. In the moderate right ventricular outflow obstruction group (n = 14) the fetuses had a small ductus arteriosus with antegrade but abnormal flow velocity, one (7%) elected for termination of pregnancy. Immediately after birth the ductus arteriosus was very small or already closed at echocardiographic examination. Two out of 13 patients (15%) developed severe hypoxic spells and underwent modified Blalock-Taussig shunt during the neonatal period. Six fetuses were considered to have severe right ventricular outflow obstruction with flow reversal in the ductus arteriosus, three (50%) of whom elected for termination of pregnancy. The other three newborns underwent modified Blalock-Taussig shunt. In fetuses with tetralogy of Fallot, ductal diameter can be reduced even up to prenatal closure. Prenatal ductal morphology assessment may be useful for improving management of patients with moderate right ventricular outflow obstruction and small ductus arteriosus who may become cyanotic at birth.
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The American Journal of Cardiology, 2009
The purpose of this study was to describe our experience in the ultrasound visualization and mana... more 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.
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Prenatal diagnosis, Jan 8, 2016
To investigate a strategy for clinical implementation of cfDNA testing in high-risk pregnancies a... more To investigate a strategy for clinical implementation of cfDNA testing in high-risk pregnancies after first-trimester combined screening. In 259 singleton pregnancies undergoing invasive testing after first trimester combined screening, a maternal blood sample was sent to the laboratory Natera for cfDNA testing using a SNP-based methodology. The cfDNA test provided a result in 249 (96.1%) pregnancies and, among these, identified as being at high risk 35 of 36 cases of trisomy 21, 13 of 13 with trisomy 18, 5 of 5 with trisomy 13 and 3 of 4 with sex chromosome aneuploidies. A policy of performing an invasive test in women with a combined risk of >1 in 10 or NT ≥4 mm and offering cfDNA testing to the remaining cases, would detect all cases of trisomy 21, 18 or 13, 80% of sex aneuploidies and 62.5% of other defects, and would avoid an invasive procedure in 82.4% of euploid fetuses. In high-risk pregnancies after combined screening, a policy of selecting a subgroup for invasive testin...
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Papers by Valentina De Robertis