The rate of multiple pregnancies is showing a significant increase in Western countries. Twin gestations should be considered a high-risk condition because they are responsible for a disproportionate amount of overall perinatal morbidity... more
The rate of multiple pregnancies is showing a significant increase in Western countries. Twin gestations should be considered a high-risk condition because they are responsible for a disproportionate amount of overall perinatal morbidity and mortality. We used a specialised ultrasound protocol based on chorionicity to monitor 44 twin pregnancies (61% dichorionic diamniotic (DD) and 39% monochorionic diamniotic (MD)). Adverse pregnancy outcomes and pre-term deliveries were more common in MD pregnancies than in DD pregnancies; the rate of extreme pre-term delivery (< 32 weeks) was almost three-times higher in MD than in DD pregnancies (41% vs 15%) and perinatal complications were more frequent in MD than in DD pregnancies (59% vs 22%), but fetal anomalies were more frequent in DD than in MD pregnancies (30% vs 24%). Periodic ultrasound follow-up would predict the pregnancies that are at greater risk for fetal and neonatal complications and these should be monitored more closely.
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ABSTRACTObjectiveTo evaluate outcomes of dichorionic twin pregnancies undergoing early vs late selective termination of pregnancy (ST).MethodsMEDLINE, EMBASE, CINAHL and the Web of Science databases were searched electronically up to... more
ABSTRACTObjectiveTo evaluate outcomes of dichorionic twin pregnancies undergoing early vs late selective termination of pregnancy (ST).MethodsMEDLINE, EMBASE, CINAHL and the Web of Science databases were searched electronically up to March 2022. The primary outcome of this study was pregnancy loss prior to 24 weeks' gestation. The secondary outcomes included preterm birth (PTB) before 37, 34, and 32 weeks, preterm prelabor rupture of membranes (PPROM), gestational age (GA) at delivery, Cesarean delivery, mean birth weight, 5‐min Apgar score < 7, overall neonatal morbidity and neonatal survival. Only prospective or retrospective studies reporting data on the outcome of early (before 18 weeks) vs late (at or after 18 weeks) ST in dichorionic twin pregnancies were considered suitable for inclusion. Quality assessment of the included studies was performed using the Newcastle–Ottawa scale for cohort studies. Random‐effects head‐to‐head meta‐analysis was used to analyze the data.ResultsSeven studies reporting on 649 dichorionic twin pregnancies were included in this systematic review. The risk of pregnancy loss prior to 24 weeks was significantly lower in dichorionic twin pregnancies undergoing early compared with late ST (1% vs 8%; odds ratio (OR), 0.25 (95% CI, 0.10–0.65); P = 0.004). The risk of PTB was significantly lower in dichorionic twin pregnancies undergoing early compared with late ST when considering PTB before 37 weeks (19% vs 45%; OR, 0.36 (95% CI, 0.23–0.57); P < 0.00001), before 34 weeks (4% vs 19%; OR, 0.24 (95% CI, 0.11–0.54); P = 0.0005) and before 32 weeks (4% vs 20%; OR, 0.21 (95% CI, 0.05–0.85); P = 0.03). The mean birth weight was significantly greater in the early‐ST group (mean difference (MD), 392.2 g (95% CI, 59.1–726.7 g); P = 0.02), as was the mean GA at delivery (MD, 2.47 weeks (95% CI, 0.04–4.91 weeks); P = 0.049). There was no significant difference between dichorionic twin pregnancies undergoing early compared with late ST in terms of PPROM (P = 0.27), Cesarean delivery (P = 0.38), 5‐min Apgar score < 7 (P = 0.35) and neonatal survival of the non‐reduced twin (P = 0.54).ConclusionsThe risk of pregnancy loss prior to 24 weeks and the rate of PTB before 37, 34 and 32 weeks were significantly higher in dichorionic twin pregnancies undergoing late vs early ST, thus highlighting the importance of early diagnosis of fetal anomalies in twin pregnancies. © 2022 International Society of Ultrasound in Obstetrics and Gynecology.
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Research Interests: Magnetic Resonance Imaging, Medicine, Brain, Pregnancy, Humans, and 15 moreFemale, Male, Magnetic Resonance, Differential Diagnosis, Clinical Sciences, Middle Aged, Adult, Craniosynostosis, Prenatal Diagnosis, Internal medicine Doppler ultrasonography, Fetus, Gestational Age, Magnetic resonance image, Hypoplasia, and Paediatrics and reproductive medicine
Management of severe thrombocytopenia, particularly of ITP, in pregnancy is mainly based on expert consensus and clinical experience while there are no clear indications about the minimum platelet count requested for prenatal diagnosis... more
Management of severe thrombocytopenia, particularly of ITP, in pregnancy is mainly based on expert consensus and clinical experience while there are no clear indications about the minimum platelet count requested for prenatal diagnosis invasive procedures. Since the lack of specific recommendations we reported our clinical management of a patient suffering from severe thrombocytopenia, undergoing amniocentesis. Due to the anecdotic possibility of maternal and fetal bleeding in case of severe thrombocytopenia, prophylaxis with IVIG or even corticosteroids could be considered as a safer strategy to prevent post-procedural adverse outcomes.
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Echogenic fetal bowel (EB) is a prenatal ultrasound finding (0.2%–1.4% of all pregnancies) defined as bowel of similar or greater echogenicity than surrounding bone. In fact, the ultrasound assessment is strongly subjective with... more
Echogenic fetal bowel (EB) is a prenatal ultrasound finding (0.2%–1.4% of all pregnancies) defined as bowel of similar or greater echogenicity than surrounding bone. In fact, the ultrasound assessment is strongly subjective with inter‐observer variability. The pathophysiology depends on the underlying condition, apparently related with meconium stasis and hypercellularity. It is often an isolated finding, with possible association with other structural anomalies. About the origin, it was observed in fetuses with cystic fibrosis, congenital infections, thalassemia, intraamniotic bleeding, fetal growth restriction. Fetuses with EB are at increased risk of adverse perinatal outcome, such as intrauterine growth restriction, placental dysfunction and perinatal death, highlighting the need for a thorough antenatal management and post‐natal follow‐up. It seems to be associated with a plenty of conditions, such as a poor fetal outcome, fetal growth restriction and placental dysfunction. The...
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Foramen ovale is a small communication between the left and the right atrium and its restriction is a rare congenital heart anomaly. There is no consensus on diagnosis and management of fetal restrictive foramen ovale (RFO). In our paper... more
Foramen ovale is a small communication between the left and the right atrium and its restriction is a rare congenital heart anomaly. There is no consensus on diagnosis and management of fetal restrictive foramen ovale (RFO). In our paper we included 11 studies about fetuses affected by isolated RFO, RFO with D‐Transposition of the Great Arteries (dTGA) and RFO with hypoplastic left heart syndrome (HLHS). While fetuses affected from HLHS and dTGA with RFO have a poor prognosis, premature RFO in an otherwise structurally normal heart, if found in later gestation, have an overall good outcome.
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Perforation of the ileum in the antepartum period resulting in meconial peritonitis is a condition that, although rare, is burdened by several complications. In 80–90% of cases, meconial ileus is the first manifestation of a disease,... more
Perforation of the ileum in the antepartum period resulting in meconial peritonitis is a condition that, although rare, is burdened by several complications. In 80–90% of cases, meconial ileus is the first manifestation of a disease, cystic fibrosis. In the remaining 10–20% of cases, it is caused by other situations, such as prematurity. In most cases, the diagnosis of meconial ileus occurs after birth, although in some cases it can be suspected prenatally, with the finding of a hyperechoic intestine on second trimester ultrasound. The prognosis depends on the gestational age, the location of the obstruction and the presence of fetal abnormalities. Mortality is very high and the recovery of intestinal function in the postoperative course is very high risk. In this case series, we describe two meconial peritonitis and our experience at the center.
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ABSTRACTObjectiveTo evaluate outcomes of dichorionic twin pregnancies undergoing early vs late selective termination of pregnancy (ST).MethodsMEDLINE, EMBASE, CINAHL and the Web of Science databases were searched electronically up to... more
ABSTRACTObjectiveTo evaluate outcomes of dichorionic twin pregnancies undergoing early vs late selective termination of pregnancy (ST).MethodsMEDLINE, EMBASE, CINAHL and the Web of Science databases were searched electronically up to March 2022. The primary outcome of this study was pregnancy loss prior to 24 weeks' gestation. The secondary outcomes included preterm birth (PTB) before 37, 34, and 32 weeks, preterm prelabor rupture of membranes (PPROM), gestational age (GA) at delivery, Cesarean delivery, mean birth weight, 5‐min Apgar score < 7, overall neonatal morbidity and neonatal survival. Only prospective or retrospective studies reporting data on the outcome of early (before 18 weeks) vs late (at or after 18 weeks) ST in dichorionic twin pregnancies were considered suitable for inclusion. Quality assessment of the included studies was performed using the Newcastle–Ottawa scale for cohort studies. Random‐effects head‐to‐head meta‐analysis was used to analyze the data.Re...
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Background: Congenital heart diseases (CHDs) are often associated with significant neurocognitive impairment and neurological delay. This study aims to elucidate the correlation between type of CHD and Doppler velocimetry and to... more
Background: Congenital heart diseases (CHDs) are often associated with significant neurocognitive impairment and neurological delay. This study aims to elucidate the correlation between type of CHD and Doppler velocimetry and to investigate the possible presence of fetal brain abnormalities identified by magnetic resonance imaging (MRI). Methods: From July 2010 to July 2020, we carried out a cross-sectional study of 63 singleton pregnancies with a diagnosis of different types of complex CHD: LSOL (left-sided obstructive lesions; RSOL (right-sided obstructive lesions) and MTC (mixed type of CHD). All patients underwent fetal echocardiography, ultrasound evaluation, a magnetic resonance of the fetal brain, and genetic counseling. Results: The analysis of 63 fetuses shows statistically significant results in Doppler velocimetry among the different CHD groups. The RSOL group leads to higher umbilical artery (UA-PI) pressure indexes values, whereas the LSOL group correlates with signific...
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ABSTRACTObjectiveTo investigate the role of fetal brain magnetic resonance imaging (MRI) in detecting associated anomalies in fetuses with congenital cytomegalovirus (CMV) infection and normal neurosonography.MethodsThis was a... more
ABSTRACTObjectiveTo investigate the role of fetal brain magnetic resonance imaging (MRI) in detecting associated anomalies in fetuses with congenital cytomegalovirus (CMV) infection and normal neurosonography.MethodsThis was a multicenter, retrospective cohort study of patients examined between 2012 and 2021 in 11 referral fetal medicine centers in Italy. Inclusion criteria were fetuses with congenital CMV infection diagnosed by polymerase chain reaction analysis of amniotic fluid, pregnancies that underwent detailed multiplanar ultrasound assessment of the fetal brain as recommended by the International Society of Ultrasound in Obstetrics and Gynecology, maternal age ≥ 18 years, normal fetal karyotype and MRI performed within 3 weeks after the last ultrasound examination. The primary outcome was the rate of central nervous system (CNS) anomalies detected exclusively on MRI and confirmed after birth or autopsy in fetuses with a prenatal diagnosis of congenital CMV infection and norm...
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Objectives Congenital cytomegalovirus (cCMV) infection can be easily prevented by hygienic measures. Up to date the majority of the studies in literature highlighted a reduction in cCMV antenatal counseling and its prevention. Our purpose... more
Objectives Congenital cytomegalovirus (cCMV) infection can be easily prevented by hygienic measures. Up to date the majority of the studies in literature highlighted a reduction in cCMV antenatal counseling and its prevention. Our purpose was to evaluate obstetrics providers’ knowledge about cCMV infection, management and the behavioral practices to avoid it. Methods This is a cross-sectional survey carried out in Umberto I Hospital, “Sapienza” University of Rome between November 2019 and January 2020. We recruited 148 specialists and residents in Obstetrics and Gynecology through online anonymous multiple-choice 13-questions, 10 min-survey comparing responses between the two groups. Results A total of 94.6% of all participants said they always prescribe cytomegalovirus (CMV) serum screening: 73.6% of them regularly counsel about preventive practices, with specialists recording higher percentages (85.4 vs. 65.1%, p<0.005). We identified a good knowledge about the diagnostic pathw...
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Adnexal masses are not common in pregnancy. They are often discovered incidentally during routine ultrasound examinations. In general, 24%–40% of the cases are benign tumors; up to 8% are malignant tumors. Adnexal masses are usually... more
Adnexal masses are not common in pregnancy. They are often discovered incidentally during routine ultrasound examinations. In general, 24%–40% of the cases are benign tumors; up to 8% are malignant tumors. Adnexal masses are usually asymptomatic, but sometimes can be responsible for abdominal or pelvic pain. Transvaginal and transabdominal ultrasound is essential to define the morphology of pelvic masses and to distinguish between benign and malignant cases. Magnetic resonance imaging can be a complementary examination when ultrasound findings are equivocal and a useful additional examination to better define tissue planes and relations with other organs. Patient counseling can be challenging because there is no clear consensus on the management of adnexal masses during pregnancy. Treatment options consist of observational management (in case of asymptomatic women with reassuring instrumental findings) or surgery (via laparoscopy or laparotomy). Surgery can be offered as a primary t...
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The rate of multiple pregnancies is showing a significant increase in Western countries. Twin gestations should be considered a high-risk condition because they are responsible for a disproportionate amount of overall perinatal morbidity... more
The rate of multiple pregnancies is showing a significant increase in Western countries. Twin gestations should be considered a high-risk condition because they are responsible for a disproportionate amount of overall perinatal morbidity and mortality. We used a specialised ultrasound protocol based on chorionicity to monitor 44 twin pregnancies (61% dichorionic diamniotic (DD) and 39% monochorionic diamniotic (MD)). Adverse pregnancy outcomes and pre-term deliveries were more common in MD pregnancies than in DD pregnancies; the rate of extreme pre-term delivery (&amp;amp;amp;amp;amp;amp;lt; 32 weeks) was almost three-times higher in MD than in DD pregnancies (41% vs 15%) and perinatal complications were more frequent in MD than in DD pregnancies (59% vs 22%), but fetal anomalies were more frequent in DD than in MD pregnancies (30% vs 24%). Periodic ultrasound follow-up would predict the pregnancies that are at greater risk for fetal and neonatal complications and these should be monitored more closely.
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Introduction. Fetal short femur is defined by a femur length below the 5th percentile or -2 DS for the gestational age. The finding of a short femur represents a diagnostic dilemma for the various differential diagnosis. It may be... more
Introduction. Fetal short femur is defined by a femur length below the 5th percentile or -2 DS for the gestational age. The finding of a short femur represents a diagnostic dilemma for the various differential diagnosis. It may be associated with skeletal dysplasia, aneuploidies or genetic syndromes. In the isolated form, it may be an early sign of placental insufficiency and growth delay, or a normal variant in constitutionally small fetuses. Aims of the study: The aim of this study was: to examine postnatal outcome of pregnancies complicated by a short femur length; to compare outcomes in pregnancies with an early diagnosis of short FL ( 25 weeks of gestation); to analyse outcome differences in isolated and non-isolated form. A secondary aim of our research was a proposal of a diagnostic algorithm as a tool to guide clinicians in the management and counselling of pregnancy with isolated and not isolated short femur length. For this purpose, a revision of current literature data on...
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Research Interests: Obstetrics and Medicine
The X6-1 xmatrix array transducer allows a completely new approach to the diagnostic ultrasound: it permits visualization of fetal heart in real time, without the need for gating, and it is unaffected by motion artefacts. It is obtained... more
The X6-1 xmatrix array transducer allows a completely new approach to the diagnostic ultrasound: it permits visualization of fetal heart in real time, without the need for gating, and it is unaffected by motion artefacts. It is obtained in real time, without any spatial reconstruction. The authors compared this technology with the traditional one in two case reports: a diagnostic doubt of small muscular ventricular septal defect was solved using this new technique; a diagnosis of complete atrioventricular septal defect was confirmed. Three-dimensional real-time imaging would seem very precise in the study of fetal heart: the defects were fully visualized from any angulations. This new technology is promising but from the authors&amp;amp;amp;amp;#39; limited experience, there is no evidence to use it in routine practice. It should be very useful to commence a prospective study on fetuses at risk while testing the superiority of this technique.
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The only prostaglandin analogue licensed in Italy for induction of labour in spontaneous and therapeutic abortion is gemeprost. The authors report a case of spontaneous uterine rupture of a scarred uterus, for previous caesarean sections,... more
The only prostaglandin analogue licensed in Italy for induction of labour in spontaneous and therapeutic abortion is gemeprost. The authors report a case of spontaneous uterine rupture of a scarred uterus, for previous caesarean sections, in a woman at 20 weeks of gestation with a diagnosis of spontaneous abortion. She received a pessary of gemeprost every three hours. After the fifth pessary, she complained of severe pain. At the ultrasound examination, uterine cavity appeared empty and the dead fetus was dislocated in the abdomen. Emergency laparotomy was performed and uterine tear was repaired. To induce labour for fetal demise or therapeutic abortion in second trimester in women with scarred uterus, the authors decided to lengthen the time between administrations of pessary from four to five hours depending on patient&amp;amp;amp;amp;#39;s symptoms. However the appropriate drug regimen has still to be found and more data are necessary.
Research Interests: Obstetrics, Medicine, Abortion, Pregnancy, Humans, and 5 moreFemale, Male, Adult, Fetal death, and uterine rupture
The fetal liver is unique because of the coexistence of cells with endodermal and mesenchymal origins, making it a potential source of hepatic and pancreatic regenerative medicine. The liver appears at about the third week of gestation,... more
The fetal liver is unique because of the coexistence of cells with endodermal and mesenchymal origins, making it a potential source of hepatic and pancreatic regenerative medicine. The liver appears at about the third week of gestation, growing rapidly from the fifth to the 10th week. We define fetal liver from 10 weeks of gestation, when hematopoietic progenitor cells gradually migrate from the aorta-mesonephros-gonad region to colonize the liver. Indeed, the fetal liver may be the most available source of cell therapy for liver disease. We conducted a review of the literature using Medline and EMBASE (up to May 2021) to identify clinical studies in which patients with liver disease had been given fetal liver cell therapy. This literature review highlighted the heterogeneity of cell isolation and selection protocols, which hinders the ability to pool data and perform a meta-analysis. A limitation of the studies analyzed was the scarcity of reports (n = 8) and the extremely small sample sizes (median sample size of treated patients was two), although there was a fairly long follow-up (median 12 months). The weeks after conception ranged from 16 to 34. There were no randomized controlled trials, and therefore no study was stratified as being of good methodological quality. Cryopreservation may help to circumvent the critical logistic issues that hamper the use of fetal liver cell therapy in clinical practice. To help consolidate the role of the fetal liver in regenerative medicine, good preclinical translational studies are necessary, whereas tracing strategies and biopsy-based endpoints are crucial in the clinic, along with well-designed, large, multicenter, randomized controlled trials using clinically applicable primary outcomes and refined imaging assessment.
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INTRODUCTION The aim of our systematic review and meta-analysis was to evaluate the risk of neural tube defects (NTDs) according to the pre-pregnancy body mass index. MATERIALS AND METHODS Electronic databases were searched (MEDLINE,... more
INTRODUCTION The aim of our systematic review and meta-analysis was to evaluate the risk of neural tube defects (NTDs) according to the pre-pregnancy body mass index. MATERIALS AND METHODS Electronic databases were searched (MEDLINE, EMBASE, Web of Sciences, Scopus, ClinicalTrial.gov, OVID, and Cochrane Library). Selection criteria included prospective and retrospective cohort studies reporting the prevalence of fetal NTDs in obese, overweight, and underweight pregnant women. Odds ratios (ORs) comparing risk among these subsets of pregnancies with normal weight mothers were determined with 95% confidence intervals (CI). The evaluated outcome was the association between maternal underweight, overweight, and obesity and the risk of NTDs. RESULTS We included ten studies published between 2000 and 2017, including underweight, overweight, and obese pregnant women with fetal NTD (cases) and pregnant women with recommended BMI with fetal NTD (controls). Compared with normal BMI women, obese mothers were at significantly higher risk of fetal NTDs (0.53 vs. 0.33%; OR 1.62 95% CI 1.32-1.99, p < .0001), while no difference for the risk of NTDs was found when comparing overweight (0.34 vs. 0.32%; OR 1.09 95% CI 0.92-1.3, p = .3) and underweight (0.65 vs. 0.24%; OR 1.34 95% CI 0.73-2.47, p = .34) with normal weight pregnant women. DISCUSSION Obese pregnant women are at significantly higher risk NTDs, while no significant difference has been found in overweight and underweight pregnant women. Key message Obese pregnant women are at significantly higher risk of NTDs, such as spina bifida compared with normal weight women. No difference was found when comparing overweight and underweight with normal weight women.
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Dear Editor, We would like to describe a case of fetal dacryocystocele that was misdiagnosed as an orofacial cleft. A 21-year-old pregnant Asian Indian woman, gravida 1 and nulliparous, was referred to our fetal center at 35 weeks of... more
Dear Editor, We would like to describe a case of fetal dacryocystocele that was misdiagnosed as an orofacial cleft. A 21-year-old pregnant Asian Indian woman, gravida 1 and nulliparous, was referred to our fetal center at 35 weeks of gestation after a second trimester ultrasound (US) scan performed at another institution had shown a suspicion of cleft lip. The couple was non-consanguineous, with no history of congenital malformations or past medical and surgical problems. The first-trimester US examination at 12 weeks had not shown any anomaly. The woman did not undergo non-invasive or invasive prenatal screening. During the two-dimensional (2-D) examination performed at our Maternal-Fetal Diagnostic Center at 35 weeks of gestation with a Voluson 730 scanner (GE Healthcare, Wauwatosa, WI), an oblique view of the fetal palate showed the upper alveolar ridge, an anechoic image at the level of the upper lip ascending to the nose, and two nostrils (Figure 1). These findings were interpreted as a cleft lip. The rest of the examination was unremarkable. The parents were counseled about the pathology. Fetal echocardiography performed at 36 weeks and 2 days was normal. We referred the patient for fetal magnetic resonance imaging (MRI) at 38 weeks and 3 days, which did not show any craniofacial anomalies suggestive of cleft lip or cleft palate. Instead, MRI revealed a well-defined cystic lesion in the medial portion of the right orbit with an extension into the nasolacrimal duct, with low signal intensity on T1-weighted images and T2-signal hyperintensity. These findings were consistent with the diagnosis of dacryocystocele (Figure 2), a cystic dilatation of the lacrimal pathway above and below the lacrimal sac. A follow-up US examination 2 weeks later did not detect the dacryocystocele seen at MRI. The woman delivered vaginally a female neonate weighing 3550 g at 38 weeks and 6 days, with Apgar scores of 8 and 9 at 1 and 5 minutes, respectively. Postnatal assessment of the infant confirmed the prenatal diagnosis of isolated dacryocystocele, which resolved spontaneously within few days after delivery. In our experience, a correct diagnosis of dacryocystocele can be done with 2-D US during the mid-trimester US examination. At this gestational age, the US artifacts caused by osseous structures do not interfere significantly with the imaging quality. This case shows that at third trimester US the fetal position, inclination of the US probe, and artifacts caused by osseous structures could lead to a misdiagnosis of cleft lip instead of the diagnosis of a dacryocystocele. Three-dimensional (3-D) US is useful for the study of the fetal face but not for routine US screening. If 2-D US is the first choice, then fetal MRI can often be used to provide additional information about the maxillofacial anatomy and allow direct visualization of the primary and secondary palate, thus enabling the correct diagnosis of various orofacial pathologies. Recently, the application of 3-D reconstruction of MR images of the
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Twin-to-twin transfusion syndrome (TTTS) is a serious complication that affects approximately 10-15% of monochorionic twin pregnancies. The most important role for the development of this condition is the presence of an unbalanced flow... more
Twin-to-twin transfusion syndrome (TTTS) is a serious complication that affects approximately 10-15% of monochorionic twin pregnancies. The most important role for the development of this condition is the presence of an unbalanced flow through the inter-twin vascular anastomoses. Depending on the number, type and direction of the connecting vessels, blood can be transfused disproportionately from one twin (the donor) to the other twin (the recipient). The diagnosis is defined prenatally by ultrasound and involves of two main criteria: the presence of a monochorionic diamniotic (MCDA) pregnancy; and the presence of oligohydramnios in the donor's sac- deep vertical pocket (DVP) 2 cm - and polyhydramnios in the recipient's sac- DVP>8 cm. Once diagnosed, TTTS is usually graded by using the Quintero staging system, that is composed by five stages, from oligohydramnios in the donor and polyhydramnios in the recipient twin to fetal demise in one or both twins. Photocoagulation o...
OBJECTIVE To assess the relationship between the presence of the sonographic finding of chorionic bump (CB) during first trimester and miscarriage rate or other perinatal outcomes. METHODS PubMed, Medline, Embase, Cinahl and... more
OBJECTIVE To assess the relationship between the presence of the sonographic finding of chorionic bump (CB) during first trimester and miscarriage rate or other perinatal outcomes. METHODS PubMed, Medline, Embase, Cinahl and Clinicaltrials.gov databases, from inception to April 8, 2021 were explored utilizing combinations of the relevant medical subject heading (MeSH) terms, key words, and word variants for "CB" and "pregnancy." Prospective and retrospective case-control studies were eligible for inclusion. Odds ratios (ORs) comparing obstetrical outcomes among pregnancies with CB and normal pregnancies were determined with 95% confidence intervals (CI) using random-effects models. Primary outcome of interest was miscarriage rate. Secondary outcomes were: alive newborns (ANB) rate, adverse pregnancy outcomes (APO) and vaginal bleeding. Quality assessment of the included studies was performed using the Newcastle-Ottawa Scale. RESULTS Five studies including 173 pregnant women with CB (study group) and 1,263 pregnant women without CB (control group) were included. Pregnancies affected by CB resulted to be associated with a significantly higher miscarriage rate (43.3% vs 20.7%; OR 2.95 95% CI 2.02-4.31, p < .00001), and conversely with a significantly lower rate of ANB (60.3% vs 82%; OR 0.35 95% CI 0.20-0.63, p = .0004). In addition, the risk of APO was around three-fold higher in the study group (52.2% vs 4.12%; OR 2.98 95% CI 1.04-8.51, p = .04), while the rate of vaginal bleeding was higher in the study group, without reaching a statistical significance (48% vs 16.4%; OR 2.21 95% CI 0.64-7.65 p = .21). DISCUSSION The presence of CB at first trimester ultrasound significantly increases the risk of miscarriage and APO, and intact the rate of ANB. This article is protected by copyright. All rights reserved. Key message: The presence of CB on early first trimester ultrasound increases three-fold the risk of miscarriage and adverse pregnancy outcomes and reduces the rate of alive newborns. It is important to consider CB as an ultrasound marker that requires a close surveillance throughout pregnancy to prevent long-term complications and provide adequate counseling to the patient.
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ObjectivesCongenital cytomegalovirus (cCMV) infection can negatively affect pregnancy outcomes, but may be prevented by simple precautions. Literature suggests that gynaecologists do not always adequately inform about preventive behaviour... more
ObjectivesCongenital cytomegalovirus (cCMV) infection can negatively affect pregnancy outcomes, but may be prevented by simple precautions. Literature suggests that gynaecologists do not always adequately inform about preventive behaviour and most pregnant women have a low-level knowledge regarding cCMV infection. The aim of this study is to evaluate knowledge and risk behaviours related to cCMV infection in an unselected group of pregnant women.MethodsAn institutional based cross-sectional study was conducted in three Maternal and Fetal Divisions in Rome between November and February 2019 on 296 pregnant women, their knowledge on cCMV was measured using six cytomegalovirus (CMV) related questions.ResultsOut of the 296 respondents, 59.1% had heard, read or seen information about cCMV infection. Regarding the way of transmission, 96/296 (32.4%) correctly recognize children as a potential source of the infection but only 25/296 (8.44%) knew all prevention practices, 28/296 (9.5%) of w...
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Research Interests: Obstetrics and Medicine
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PURPOSE Recent studies have identified suggestive prenatal features of RASopathies (e.g., increased nuchal translucency [NT], cystic hygroma [CH], hydrops, effusions, congenital heart diseases [CHD], polyhydramnios, renal anomalies). Our... more
PURPOSE Recent studies have identified suggestive prenatal features of RASopathies (e.g., increased nuchal translucency [NT], cystic hygroma [CH], hydrops, effusions, congenital heart diseases [CHD], polyhydramnios, renal anomalies). Our objective is to clarify indications for RASopathy prenatal testing. We compare genotype distributions between pre- and postnatal populations and propose genotype-phenotype correlations. METHODS Three hundred fifty-two chromosomal microarray-negative cases sent for prenatal RASopathy testing between 2012 and 2019 were collected. For most, 11 RASopathy genes were tested. Postnatal cohorts (25 patients with available prenatal information and 108 institutional database genotypes) and the NSeuroNet database were used for genotypic comparisons. RESULTS The overall diagnostic yield was 14% (50/352), with rates >20% for effusions, hydrops, and CHD. Diagnostic yield was significantly improved in presence of hypertrophic cardiomyopathy (HCM), persistent or associated CH, any suggestive finding combined with renal anomaly or polyhydramnios, or ≥2 ultrasound findings. Largest prenatal contributors of pathogenic variants were PTPN11 (30%), RIT1 (16%), RAF1 (14%), and HRAS (12%), which considerably differ from their prevalence in postnatal populations. HRAS, LZTR1, and RAF1 variants correlated with hydrops/effusions, and RIT1 with prenatal onset HCM. CONCLUSION After normal chromosomal microarray, RASopathies should be considered when any ultrasound finding of lymphatic dysplasia or suggestive CHD is found alone or in association.
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Aim: Corpus callosum hypoplasia is described as a fully formed corpus callosum with reduced thickness. Our purpose is to evaluate the current knowledge about this anomaly including it's effect on the neurodevelopmental outcome and to... more
Aim: Corpus callosum hypoplasia is described as a fully formed corpus callosum with reduced thickness. Our purpose is to evaluate the current knowledge about this anomaly including it's effect on the neurodevelopmental outcome and to report our single center experience. Methods: PubMed, Medline and reference lists were searched using combinations of these terms: "Hypoplasia of corpus callosum and prenatal diagnosis" and "neurodevelopmental outcome". Results: Eleven studies were included, with a final population of 48 patients (45 cases from literature plus 3 of our own cases). Hypoplasia of the corpus callosum was detected by ultrasound scan alone in 77% of cases: magnetic resonance confirmed the ultrasound suspicion in the remaining 23% of cases. Isolated form was detected in 31% cases. Adverse fetal outcomes occurred in 62% of cases, while 38% of cases were born alive. The neurodevelopmental outcome was found to be normal in 33% of cases. Conclusion: Antenatal detection of corpus callosum hypoplasia remains challenging. Counseling is difficult because neurodevelopmental outcomes are variable.
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OBJECTIVE To report cases of use of chelation therapy during pregnancy which resulted in favorable outcomes for the babies. MATERIALS AND METHODS In this retrospective cohort study, we described the evolution and outcome of 9 pregnancies... more
OBJECTIVE To report cases of use of chelation therapy during pregnancy which resulted in favorable outcomes for the babies. MATERIALS AND METHODS In this retrospective cohort study, we described the evolution and outcome of 9 pregnancies in Italian thalassemic women who received deferoxamine (DFO) inadvertently during early pregnancy. RESULTS The use of deferoxamine during first trimester did not lead to adverse effects on the fetus or cause major complications for the gestation, although an increase in iron burden was observed after suspending chelation therapy. CONCLUSION In our experience, iron-chelation therapy might be administrated in pregnancy where the benefits to the mother outweigh the potential risks to the baby.
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Cleft lip and cleft palate (CP) are the most common facial malformations. Two‐dimensional (2D) ultrasound (US) is the first‐line examination in the prenatal diagnosis of CP. Three‐dimensional, four‐dimensional US and MRI provide a better... more
Cleft lip and cleft palate (CP) are the most common facial malformations. Two‐dimensional (2D) ultrasound (US) is the first‐line examination in the prenatal diagnosis of CP. Three‐dimensional, four‐dimensional US and MRI provide a better detection of facial clefts. We present two fetuses with micrognathia and suspected secondary CP on 2D US: fetal tongue appeared in an unusual position (low tip and high dorsum position) and showed uncoordinated movements. MRI did not confirm the US suspicion, but at birth the two fetuses were affected by Pierre Robin sequence.
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The Zika virus (ZIKV) genome, its negative-strand viral proteins, and virus-like particles were detected in placenta-derived mesenchymal cells (MSCs), indicating that ZIKV persists after virus clearance from maternal blood and can be... more
The Zika virus (ZIKV) genome, its negative-strand viral proteins, and virus-like particles were detected in placenta-derived mesenchymal cells (MSCs), indicating that ZIKV persists after virus clearance from maternal blood and can be rescued by in vitro cultivation. We report for the first time the presence of replication-competent ZIKV in MSCs from an asymptomatic woman who acquired infection during pregnancy.
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Potential risk of adverse obstetrical outcomes has been shown among breast cancer survivors. Therefore, the aim of this systematic review and meta-analysis was to evaluate the relationship between history of breast cancer (BC) and... more
Potential risk of adverse obstetrical outcomes has been shown among breast cancer survivors. Therefore, the aim of this systematic review and meta-analysis was to evaluate the relationship between history of breast cancer (BC) and obstetrical outcomes. PubMed, EMBASE, and Medline were searched from the inception of each database to April 2019. Selection criteria included prospective and retrospective cohort studies of BC pregnant survivors. The meta-analysis was performed by computing odds ratios (ORs) using both fixed and random-effects models. Quality assessment of the included studies was performed using the Newcastle–Ottawa Scale and the review was registered with PROSPERO number CRD42019127716. Four studies, including 1466 cases of BC survivors and 6,912,485 controls, were included. Compared with controls, a higher incidence of obstetrical complication was found in women with history of BC. The incidence of preterm birth (PTB) in the study group was 11.05% compared with 7.79% in the control group (1.68, 95% confidence interval 1.43–1.99). Breast cancer history was also associated with low birth weight (LBW) (study group: 9.26% vs. control group: 5.54%, 1.88, CI 95% 1.55–2.27), cesarean section (CS) (study group: 19.76% vs. control group 10.81%, 1.78, CI 95% 1.39–2.27), intrauterine fetal death (IUFD) (study group: 0.004% vs. control group 0.36%, of 1.25 CI 95% 0.36–4.35), and fetal anomalies (study group: 5.8% vs. control group: 4.26%, 1.45 CI 95% 1.01–2.09). History of BC was associated with adverse obstetrical outcomes.
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Vascular malformations arising from the wall of the external jugular vein are rare and appeared most commonly in pediatric population. Here, we present a case of vascular malformation in the left external jugular vein diagnosed in a fetus... more
Vascular malformations arising from the wall of the external jugular vein are rare and appeared most commonly in pediatric population. Here, we present a case of vascular malformation in the left external jugular vein diagnosed in a fetus during third trimester ultrasound. This is the first described case in prenatal diagnosis.
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The umbilical cord is a complex structure containing three vessels, one straight vein and two coiled arteries, encased by the Wharton Jelly (WJ) a spongy structure made of collagen and hydrated macromolecules. Fetal blood reaches the... more
The umbilical cord is a complex structure containing three vessels, one straight vein and two coiled arteries, encased by the Wharton Jelly (WJ) a spongy structure made of collagen and hydrated macromolecules. Fetal blood reaches the placenta through the arteries and flows back to the fetus through the vein. The role of the WJ in maintaining cord circulation proficiency and the ultimate reason for arterial coiling still lack of reasonable mechanistic interpretations. We performed biaxial tension tests and evidenced significant differences in the mechanical properties of the core and peripheral WJ. The core region, located between the arteries and the vein, resulted rather stiffer close to the fetus. Finite element modelling and optimization based inverse method were used to create 2D and 3D models of the cord and to simulate stress distribution in different hemodynamic conditions, compressive loads and arterial coiling. We recorded a facilitated stress transmission from the arteries to the vein through the soft core of periplacental WJ. This condition generates a pressure gradient that boosts the venous backflow circulation towards the fetus. Peripheral WJ allows arteries to act as pressure buffering chambers during the cardiac diastole and helps to dissipate compressive forces away from vessels. Altered WJ biomechanics may represent the structural basis of cord vulnerability in many high-risk clinical conditions.
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SHOC2 is a scaffold protein mediating RAS‐promoted activation of mitogen‐activated protein kinase (MAPK) signaling in response to extracellular stimuli. A recurrent activating mutation in SHOC2 (p.Ser2Gly) causes Mazzanti syndrome, a... more
SHOC2 is a scaffold protein mediating RAS‐promoted activation of mitogen‐activated protein kinase (MAPK) signaling in response to extracellular stimuli. A recurrent activating mutation in SHOC2 (p.Ser2Gly) causes Mazzanti syndrome, a RASopathy characterized by features resembling Noonan syndrome and distinctive ectodermal abnormalities. A second mutation (p.Met173Ile) supposed to cause loss‐of‐function was more recently identified in two individuals with milder phenotypes. Here, we report on the third RASopathy‐causing SHOC2 mutation (c.807_808delinsTT, p.Gln269_His270delinsHisTyr), which was found associated with prenatal‐onset hypertrophic cardiomyopathy. Structural analyses indicated a possible impact of the mutation on the relative orientation of the two SHOC2's leucine‐rich repeat domains. Functional studies provided evidence of its activating role, revealing enhanced binding of the mutant protein to MRAS and PPP1CB, and increased signaling through the MAPK cascade. Differing from SHOC2 S2G, SHOC2 Q269_H270delinsHY is not constitutively targeted to the plasma membrane. These data document that diverse mechanisms in SHOC2 functional dysregulation converge toward MAPK signaling upregulation.
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Obese pregnant women are likely to face several gestational and neonatal complications. Metformin is an effective oral antihyperglycaemic agent that is considered to be effective during pregnancy. The aim of our study was to evaluate the... more
Obese pregnant women are likely to face several gestational and neonatal complications. Metformin is an effective oral antihyperglycaemic agent that is considered to be effective during pregnancy. The aim of our study was to evaluate the effect of metformin on obstetric and perinatal outcomes in obese pregnant women. Electronic databases were searched (MEDLINE, EMBASE, Web of Science, Scopus, ClinicalTrials.gov, OVID, and Cochrane Library). The selection criteria included only randomized clinical trials (RCTs) of obese pregnant women randomized to a daily metformin regimen or to a placebo condition. The type of participants included women with a body mass index (BMI) ≥ 30 kg/m2 who did not have diabetes mellitus, any other disease, or a contraindication to metformin use. The summary measures were reported as relative risk (RR) with 95% confidence intervals (CIs). The primary outcome was the effect on maternal weight gain (MWG). Two double‐blind RCTs, including 849 obese pregnant women, were included in the meta‐analysis: 428 (50.4%) were randomized to the metformin group, and 421 (49.6%) were randomized to the placebo group. The use of metformin was significantly associated with lower MWG. Metformin was also associated with a significantly lower incidence of preeclampsia (PE) and admission to the neonatal intensive care unit (NICU). Metformin could be considered a useful drug for the treatment of obese, nondiabetic pregnant women because it can significantly decrease weight gain in pregnant women and improve perinatal outcomes by reducing the incidence of PE and NICU admission. However, women should be aware of the uncertainties concerning the long‐term effects of metformin transplacental passage on metabolic outcomes.
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Pfeiffer syndrome (PS) is an autosomal dominant disorder caused by mutations in FGFR1 and FGFR2 genes. Given its wide range of clinical expression and severity, early prenatal diagnosis is difficult and genetic counseling is desirable. We... more
Pfeiffer syndrome (PS) is an autosomal dominant disorder caused by mutations in FGFR1 and FGFR2 genes. Given its wide range of clinical expression and severity, early prenatal diagnosis is difficult and genetic counseling is desirable. We report a literature review of all prenatal diagnosis of PS and a case report, with a focused description of ultrasound findings. After literature search, we selected 14 studies of antenatal diagnosis of PS. Prenatal ultrasound findings, outcome, maternal and obstetrical data and genetic tests were recorded and analyzed. A total of 18 cases including the one we present were selected. Among the most frequent sonographic features, skull shape anomalies were evident in 72.2% of cases, nasal abnormalities in 50%, proptosis and hypertelorism in 44.4% and frontal bossing in 22.2%. Thumbs&amp;amp;amp;amp;#39; anomalies were present in 33.3% of cases and toes&amp;amp;amp;amp;#39; abnormalities in 38.9%. In all cases, postnatal or postmortem examination confirmed the prenatal diagnosis of PS. We provide a literature review of prenatal diagnosis of PS to identify ultrasound features that may be supportive in the diagnosis of this rare disease, helping in making a differential diagnosis with the other possible craniosynostosis syndromes and in suggesting gene molecular testing.