Reliability of Early Fetal Echocardiography for Congenital Heart Disease Detection: A Preliminary Experience and Outcome Analysis of 102 Fetuses to Demonstrate the Value of a Clinical Flow-Chart Designed for At-Risk Pregnancy Management

Early fetal echocardiography (EFEC) is a fetal cardiac ultrasound analysis performed between the 12th and 16th week of pregnancy (compared with the usual 18-22 weeks). In the last 10 years, the introduction of “aneuploidy sonographic markers” in screening for cardiac defects has led to a shift from late second to end of the first trimester or beginning of the second trimester of pregnancy for specialist fetal echocardiography. In this prospective study, early obstetric screening was performed between January 2014 and October 2015, using “aneuploidy sonographic markers” following SIEOG Guidelines 2014. These parameters were then collected and strategically combined in an evaluation score to select the group of pregnancies for performing EFEC, in accordance with the American Society of Echocardiography guidelines for fetal Echocardiography. All second-level examinations were performed transabdominally using a 3D convex volumetric probe with frequency range of 4-8 MHz (Accuvix – Samsung). The outcome data included transabdominal fetal echocardiography from 18 weeks to term and after birth. Overall, 99 pregnant women in the first trimester underwent EFEC (95 singleton and 4 twin pregnancies). Specifically, 30 fetuses were evaluated for extra-cardiac anomalies evidenced by obstetric screening (30%), 25 for family history of congenital heart diseases (25%), 8 for family history of genetic-linked diseases (8%), 4 for heart diseases suspected by obstetric screening (4%) and 19 by normal screening (19%). Was detected 11 (10.7%) CHD, when EFEC detected CHD, were compared to those performed later in pregnancy (18 weeks GA-term), a high degree of diagnosis correspondence was evidenced. The higher sensitivity value of EFEC vs late-FE, in comparison with the post-natal value, coupled with the high EFEC specificity shown vs both the end points, enabled us to consider it as a really reliable diagnostic technology, at least in perienced hands. The introduction of a key combination of the more sensitive obstetric and cardiologic variables should facilitate the formulation of a possible flow-chart as a guide for CHD at-risk pregnancies

Endometriosis: 10 keys points for MRI

Endometriosis is a chronic disease and a clinical problem in women of fertile age, with a high impact on quality of life, work productivity and health care management. Two imaging modalities are employed in the diagnosis and evaluation of extent of disease: ultrasound examination with endovaginal approach and magnetic resonance imaging (MRI). MRI, thanks to its high contrast and resolution characteristics, offers a high level of accuracy in the study of endometriosis and adenomyosis. We illustrate here 10 key MRI points for the detection and diagnosis of endometriosis

Dandy-Walker malformation: is the "tail sign" the key sign?

OBJECTIVE.To demonstrate the value of the "tail sign" in the assessment of Dandy-Walker Malformation (DWM). METHODS: A total of 31fetal MRI, performed before 24 weeks of gestation after second-line US examination between May 2013 and September 2014, were examined retrospectively. All MRI examinations were performed using a 1.5 Tesla magnet without maternal sedation. RESULTS: MRI diagnosed 15/31 cases of Dandy-Walker Malformation, 6/31 cases of vermian partial caudal agenesis, 2/31 of vermian hypoplasia, 4/31 of vermian malrotation, 2/31 of Walker-Warburg Syndrome, 1/31 of Blake pouch cyst, 1/31 of rhombencephalosynapsis. All data were compared with fetopsy results, Fetal MR after the 30th week or postnatal MRI; the follow up depended on the maternal decision to terminate or continue pregnancy. In our review study we found the presence of the "tail sign"; this sign was visible only in Dandy-Walker Malformation and Walker-Warburg Syndrome. CONCLUSION: The "tail sign" could be helpful in the difficult differential diagnosis between Dandy Walker, vermian malrotation, vermian hypoplasia and vermian partial agenesis

Epirubicin. A new entry in the list of fetal cardiotoxic drugs? Intrauterine death of one fetus in a twin pregnancy. Case report and review of literature

BACKGROUND: Current knowledge indicate that epirubicin administration in late pregnancy is almost devoid of any fetal cardiotoxicity. We report a twin pregnancy complicated by breast cancer in which epirubicin administration was causatively linked to the death of one twin who was small for gestational age (SGA) and in a condition of oligohydramnios and determined the onset of a transient cardiotoxicity of the surviving fetus/newborn. CASE PRESENTATION: A 38-year-old caucasic woman with a dichorionic twin pregnancy was referred to our center at 20 and 1/7 weeks for a suspected breast cancer, later confirmed by the histopathology report. At 31 and 3/7 weeks, after the second chemotherapy cycle, ultrasound examination evidenced the demise of one twin while cardiac examination revealed a monophasic diastolic ventricular filling, i.e. a diastolic dysfunction of the surviving fetus who was delivered the following day due to the occurrence of grade II placental abruption. The role of epirubicin cardiotoxicity in the death of the first twin was supported by post-mortem cardiac and placental examination and by the absence of structural or genomic abnormalities that may indicate an alternative etiology of fetal demise. The occurrence of epirubicin cardiotoxicity in the surviving newborn was confirmed by the report of high levels of troponin and transient left ventricular septal hypokinesia. CONCLUSION: Based on our findings we suggest that epirubicin administration in pregnancy should be preceded by the screening of some fetal conditions like SGA and oligohydramnios that may increase its cardiotoxicity and that, during treatment, the diastolic function of the fetal right ventricle should be specifically monitored by a pediatric cardiologist; also, epirubicin and desamethasone for lung maturation should not be closely administered since placental effects of glucocorticoids may increase epirubicin toxicity

Role of fetal MRI in the evaluation of isolated and non-isolated corpus callosum dysgenesis: results of a cross-sectional study

PURPOSE: The aims of this study were to characterize isolated and non-isolated forms of corpus callosum dysgenesis (CCD) at fetal magnetic resonance imaging (MRI) and to identify early predictors of associated anomalies. METHODS: We retrospectively analyzed 104 fetuses with CCD undergoing MRI between 2006 and 2016. Corpus callosum, cavum septi pellucidi, biometry, presence of ventriculomegaly, gyration anomalies, cranio-encephalic abnormalities and body malformations were evaluated. Results of genetic tests were also recorded. RESULTS: At MRI, isolated CCD was 26.9%, the rest being associated to other abnormalities. In the isolated group, median gestational age at MRI was lower in complete agenesis than in hypoplasia (22 vs 28 weeks). In the group with additional findings, cortical dysplasia was the most frequently associated feature (P = 0.008), with a more frequent occurrence in complete agenesis (70%) versus other forms; mesial frontal lobes were more often involved than other cortical regions (P = 0.006), with polymicrogyria as the most frequent cortical malformation (40%). Multivariate analysis confirmed the association between complete agenesis and cortical dysplasia (odds ratio = 7.29, 95% confidence interval 1.51-35.21). CONCLUSIONS: CCD is often complicated by other intra-cranial and extra-cranial findings (cortical dysplasias as the most prevalent) that significantly affect the postnatal prognosis. The present study showed CCD with associated anomalies as more frequent than isolated (73.1%). In isolated forms, severe ventriculomegaly was a reliable herald of future appearance of associated features

Monochorionic-diamniotic twin pregnancy complicated by spontaneous septostomy and cord entanglement. a systematic review, evaluation of complication rates and presentation of an additional case

Background: Our purpose is to describe the ultrasound findings, both with bi-dimensional and three-dimensional imaging, suggestive of spontaneous septostomy in monochorionic-diamniotic twin pregnancies. Methods: PubMed, Medline and reference lists were searched using “Spontaneous septostomy and twin pregnancy” as keywords. Seventeen articles reporting a total of 25 cases, adding our own, were included in the systematic review. Only English full text articles, the main purpose of which was to describe spontaneous septostomy in twin pregnancies, were included. Results: In our sample the major ultrasound sign arousing suspicion of spontaneous septostomy was found to be an absent or disrupted inter-twin membrane (79% of cases). Twins close to each-other were described in 33% of cases, while cord entanglement was suspected only in 27% of cases. We reported a lower antenatal detection of entanglement when compared with intrapartum evaluation (27% vs 59%). Adverse fetal outcomes occurred in 12% of cases, while 88% of cases were born alive. Conclusions: Spontaneous septostomy represents a diagnostic and clinical challenge for obstetrics providers. Clinicians must focus on ultrasound findings to close surveil fetal wellness and reduce both fetal and neonatal impairment

Use of deferoxamine (DFO) in transfusion-dependent β-thalassemia during pregnancy: A retrospective study.

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. Keywords: Deferoxamine, Iron chelation therapy, Magnetic resonance T2*, Pregnancy, Thalassemi

Morbidity associated with patent ductus arteriosus in preterm newborns: a retrospective case-control study

Introduction: Association between persistency of a patent ductus arteriosus (PDA) and morbidity in preterm newborns is still controversial. We aimed to investigate the relation between PDA and morbidity in a large retrospective study. Methods: A case-control study including neonates consecutively admitted to the Neonatal Intensive Care Unit (NICU), with gestational age (GA) < 32 weeks or body birth weight (BW) < 1500 g, over a 5-year period. Newborns were divided into Cases and Controls, according with the presence or absence of a hemodynamically significant PDA (hs-PDA). Results: We enrolled 85 Cases and 193 Controls. Subjects with hs-PDA had significantly (p < 0.001) lower GA (26.7 w, 95%CI 27.1–28.0 vs. 30.1 w, 95%CI 29.7–30.4), BW (1024 g, 95% CI 952–1097 vs. 1310 g 95%CI 1263–1358) and an increased morbidity (60.0% vs. 18.7%). In a sub-group of extremely preterm newborns (GA ≤ 28 weeks and BW ≤ 1000 g), the rate of bronchopulmonary dysplasia (BPD) was significantly increased in Cases (31.7%) compared with Controls (5.9%, p = 0.033). Multivariate analysis showed that morbidity significantly depended on hs-PDA, GA and BW, and that, in extremely preterms, the hs-PDA represented an independent risk factor for BPD. Conclusions: Occurrence of the main morbidities of prematurity depended by hs-PDA, in association with GA, BW, and use of prenatal steroids. In extremely premature babies, hs-PDA is a risk factor for BPD, one of the most important morbidity of prematurity, independently by other confounding variables

Echocardiographic features and outcome of restrictive foramen ovale in fetuses with and without cardiac malformations. literature review

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

Isolated auditory neuropathy at birth in congenital cytomegalovirus infection

BACKGROUND: Congenital cytomegalovirus (cCMV) infection is the most frequent non-genetic cause of sensorineural hearing-loss (SNHL) (i.e., hearing loss due to a cochlear and/or auditory nerve damage). It is widely accepted that SNHL at birth, when associated to cCMV symptomatic infection involving the central nervous system, benefits from antiviral therapy started in the neonatal period. Conversely, there is no consensus for antiviral treatment in congenitally infected infants diagnosed with isolated SNHL (i.e., SNHL in an otherwise asymptomatic infant) at birth. Our aim was to assess the frequency and the auditory outcome of isolated SNHL at birth due to auditory neuropathy (AN) (i.e., SNHL in a patient with normal cochlear function and auditory nerve dysfunction) in infants with cCMV infection. METHODS: We retrospectively reviewed the clinical history of 60 infants, born at term, with cCMV asymptomatic infection, without additional risk factors for SNHL, and exhibiting bilateral "pass" otoacustic emissions (OAE). None of them underwent antiviral therapy. Hearing thresholds were assessed by means of Auditory Brainstem Responses (ABR). AN affected children were followed up until possible normalization of the hearing thresholds or definitive diagnosis of AN. Each infant diagnosed with monolateral or bilateral AN was classified according to the worst ear threshold. RESULTS: In our population, the first ABR was performed at a mean age of 5.00 ± 2.79 (SD) months and AN was diagnosed in 16/60 (26.67%) infants; in 4 infants the AN was defined as mild (4/4 monolateral), moderate in 11 (5/11 bilateral), and severe in 1 (bilateral). The mean age at first ABR was 3.69 ± 2.80 (SD) months in the 16 babies with AN and 5.48 ± 2.66 (SD) months in the 44 infants with normal hearing (p = 0.007). All AN cases spontaneously recovered a normal auditory threshold over time. The mean length of the audiological follow-up was 32.44 ± 17.58 (SD) months (range 5-60 months). CONCLUSION: A delayed maturation of the auditory pathways should be considered when a mild/moderate isolated AN at birth is detected in cCMV infected infants. Prospective studies conducted on larger populations, and with a longer audiological follow-up, are needed to confirm our findings