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Objectives: To report our experience with fetal diagnosis of right aortic arch (RAA) variants based on the ductus arteriosus (DA) anatomy and brachiocephalic vessel branching pattern in relation to the trachea, and to establish whether the echocardiographic 'V-shaped' or 'U-shaped' appearance of the junction between the DA and aortic arch (AA) in the fetal upper mediastinal view is sufficiently accurate for assessment of fetal AA anatomy., Methods: This was a retrospective study of pregnancies with a prenatal diagnosis of fetal RAA that had postnatal confirmation of AA anatomy, referred to our tertiary center during 2011-2017. Prenatal and postnatal medical records, including echocardiographic and computed tomography (CT)/magnetic resonance imaging (MRI) scan reports, were reviewed, and cardiac and extracardiac abnormalities and the results of genetic testing were recorded., Results: Of 55 consecutive pregnancies with a prenatal diagnosis of fetal RAA, six were lost to follow-up, one was terminated and three were excluded due to lack of postnatal confirmation of AA anatomy. Of the remaining 45 pregnancies, AA anatomy was assessed postnatally by CT in 39, by MRI in one and by direct examination at cardiac surgery in five. A U-shaped appearance was found in 37/45 (82.2%) patients, all of which had a complete vascular ring (CVR). Of these 37 patients, on postnatal confirmation, 21 (56.8%) had RAA with Kommerell's diverticulum, left posterior ductus arteriosus (LPDA) and aberrant left subclavian artery (ALSA) (RAA/LPDA/ALSA), 11 (29.7%) had a double AA (DAA), four (10.8%) had RAA with Kommerell's diverticulum, LPDA and mirror-image (MI) branching (RAA/LPDA/MI), and one (2.7%) had RAA with Kommerell's diverticulum, LPDA and aberrant left innominate artery (ALIA) (RAA/LPDA/ALIA). A V-shaped appearance was found in 3/45 (6.7%) patients, all of which had RAA with right DA not forming a CVR and MI branching. In the 5/45 (11.1%) fetuses with neither U- nor V-shaped appearance, RAA with left anterior DA arising from the left innominate artery and MI branching, not forming a CVR, was found. Twelve (26.7%) fetuses had a congenital heart defect (CHD). RAA forming a CVR (U-shaped appearance) was associated with a septal defect in 6/37 (16.2%) fetuses, while RAA not forming a CVR (V-shaped appearance or no U- or V-shaped appearance) was associated with major CHD in 6/8 (75.0%) fetuses., Conclusions: In fetuses with RAA, V-shaped appearance of the junction between the DA and AA indicates only that the transverse AA and DA run together on the same side of the thorax (trachea) while a U-shaped appearance is always a sign of a CVR. Among fetuses with a CVR, RAA/LPDA/MI is more frequent than described previously. Finally, RAA forming a CVR is not usually associated with complex CHD, as opposed to RAA not forming a CVR. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd., (Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd.)

Background: Our study aims at disclosing epidemiology and most relevant clinical features of esophageal atresia (EA) pointing to a model of multicentre collaboration., Methods: A detailed questionnaire was sent to all Italian Units of pediatric surgery in order to collect data of patients born with EA between January and December 2012. The results were crosschecked by matching date and place of birth of the patients with those of diagnosis-related group provided by the Italian Ministry of Health (MOH)., Results: A total of 146 questionnaires were returned plus a further 32 patients reported in the MOH database. Basing on a total of 178 patients with EA born in Italy in 2012, the incidence of EA was calculated in 3.33 per 10,000 live births. Antenatal diagnosis was suspected in 29.5% patients. 55.5% showed associated anomalies. The most common type of EA was Gross type C (89%). Postoperative complications occurred in 37% of type C EA and 100% of type A EA. A 9.5% mortality rate was reported., Conclusions: This is the first Italian cross-sectional nationwide survey on EA. We can now develop shared guidelines and provide more reliable prognostic expectations for our patients., (Copyright © 2015 Elsevier Inc. All rights reserved.)

Objective: This paper aimed to assess pathways through which pediatric surgeons receive couples for prenatal consultation after prenatal diagnosis., Method: A questionnaire was mailed to pediatric surgical centers to assess the following: (1) surgical caseload per year; (2) number of centers in which prenatal consultation is offered; (3) presence of a 'structured' prenatal consultation clinic; (4) number of consultations per year; (5) pathways for referral to the pediatric surgeon; and (6) the availability of psychological counseling., Results: Response rate was 81%, (42/52 centers). Thirty-eight centers (93%) offered prenatal consultation. Seven centers (18%) reported to have a 'structured' clinic in terms of time and location. In 13 centers (34%), 1-9 consultations were carried out, from 10 to 19 in 18 centers (47%), from 20 to over 50 in 7 centers (18%). In 34 centers, internal referrals from the obstetric departments were counseled, and in 28 centers, there were also external referrals. Eleven centers reported that couples were self-referred. Information regarding prenatal counseling was available on the institutional website in 10/38 (26%) centers. Psychological counseling was available in 36 centers., Conclusion: Despite the fact that the majority of pediatric surgical centers provides prenatal consultation, caseloads are very variable as are referral modalities., (© 2013 John Wiley & Sons, Ltd.)

Objective: With increasing use of routine prenatal ultrasound, prenatal counseling after diagnosis of congenital malformations is frequently offered to prospective parents. We aimed to assess if the communication of diagnosis of a congenital anomaly in the fetus meets American Psychiatric Association (APA) criteria for trauma in parents., Study Design: In the period ranging from 2003 to 2009 a preliminary investigation was conducted with 165 prospective mothers and 91 prospective fathers being interviewed after communication of diagnosis. Analysis of statements was made independently by two psychologists considering the APA definition of trauma., Result: A total of 145 mothers and 76 fathers experienced the communication of diagnosis in their fetus as a traumatic event. There was no correlation between type of malformation and trauma nor was there statistical difference between mother and father regarding the stressor., Conclusion: Communication of diagnosis of a fetal anomaly can be a traumatic event and should be dealt with consequently. Given the therapeutic value of sharing traumatic experience such practice should be encouraged as part of the consultation process.

Objective: To assess the applicability of Drotar model when the diagnosis of congenital malformation is made antenatally., Methods: In a 3-year period (2000-2003) fifty mothers, counselled for fetal malformations amenable to surgical correction at birth, were interviewed. Statistical associations were sought between each stage of the adaptation process and type of anomaly, gestational age at diagnosis, maternal age, educational background and previous miscarriage. Emotional experience at each stage was studied as dichotomous variables., Results: Fetuses were affected by the following anomalies: abdominal wall defects (11), intestinal atresia (14) and diaphragmatic hernia (25). All mothers experienced stage one, two and three. No association was found between anger, type of anomaly, maternal age, educational background, and age at diagnosis. On the contrary, such association was statistically significant for previous miscarriage. Thirty-nine mothers reached the adaptation stage while none of them experienced that of reorganization., Conclusion: Despite significant differences, the adaptation process proposed by Drotar to describe parents reactions is applicable in prenatal age.

Purpose: The aim of this study was to assess parent's emotional and cognitive reactions to the prenatal diagnosis of diaphragmatic hernia in their prospective children., Methods: A survey was conducted by means of a questionnaire. In the period ranging from 1997 to 2002, 40 couples in whom an established diagnosis of diaphragmatic hernia was made in their fetus were seen for prenatal consultation at a tertiary referral center., Results: Overall response rate was 93% (37 couples). Mean period since diagnosis for compilation of the questionnaire was 2 weeks. Mean gestational age at diagnosis was 25 weeks (range, 16 to 35 weeks). All parents lacked prediagnostic knowledge of diaphragmatic hernia and consider a single consultation with the paediatric surgeon inadequate to have a clear understanding of the anomaly. Only 1 mother and 1 father reported they understood all the information given by the surgeon. The most frequent (75%) feeling during and after the consultation was fear. Most parents (70%) referred to the intense emotions as the factor that made it difficult to follow the surgeon's explanations as well as to ask questions., Conclusions: Because of the incompatibility of emotional distress and optimum learning, impairment of early comprehension of information about diaphragmatic hernia is unavoidable. Therefore, we believe that follow-up antenatal consultations and provision of written and visual illustration are extremely important to facilitate informed choices.

Objective: To assess whether or not a correlation exists between antenatal consultations and parental anxiety., Study Design: In total, 31 couples undergoing prenatal consultation after a diagnosis of a surgically correctable anomaly were asked to fill in a questionnaire (Spielberger State-Trait Anxiety Inventory) measuring anxiety levels (AL) both after the first consultation and at birth. Prenatal counselling was done by a perinatal team including paediatric surgeon, obstetrician, and psychologist., Results: Malformations were: eight diaphragmatic hernias, 10 intestinal atresias, four abdominal masses, nine abdominal wall defects. Each fetus was subsequently followed up at regular intervals from diagnosis to birth. AL at birth were then compared with the number of antenatal consultations. A negative correlation (r=-0.688, p<0.001) was found between the number of consultations and the level of anxiety at birth. Patients having at least two consultations had significantly lower anxiety levels at birth., Conclusion: Irrespective of the type of malformation, there is evidence that having more than one antenatal consultation may significantly reduce AL at birth. Therefore, early antenatal diagnosis should be encouraged in order to increase as much as possible chances of repeated consultations for the prospective parents.

Unlabelled: Cystic adenomatoid malformation of the lung (CAML) is a rare pulmonary maldevelopment resulting from an abnormal growth of the terminal bronchial structures. This study proposes a possible management of prenatally diagnosed CAML. A group of nine cases of CAML diagnosed prenatally between January 1990 and December 1995 was studied retrospectively. The evolution of lesions was followed in utero by serial ultrasound monitoring. Chest X-ray was performed at birth in all neonates and CT only in the symptomatic ones. CAML was macrocystic in three cases and microcystic in six. No polyhydramnios, hydrops or associated malformations were seen. In four cases, CAML was confirmed at birth and required surgery. The lesion decreased in size prenatally in five fetuses, of whom only one underwent surgery. In two further cases a prenatal diagnosis of CAML was changed to diaphragmatic hernia., Conclusion: Given the possible clinical disappearance or resolution of cystic adenomatoid malformation of the lung, we believe that surgery is justified at birth only in symptomatic and radiologically positive neonates. It could be safely delayed in those asymptomatic patients with either positive or negative chest X-ray. The former need computed tomography at birth, whereas, in the latter, it should be performed at 6 months of age for a more definitive assessment of the patient.

Objectives: To describe ultrasound features of fetal ovarian cysts as reported by the original ultrasound examiner, to apply International Ovarian Tumor Analysis (IOTA) terminology after retrospective analysis of the images and to describe patient management and evolution of fetal cysts during pregnancy and after delivery. Methods: This retrospective observational study included pregnant women diagnosed on ultrasound examination with a fetal ovarian cyst at the Prenatal Diagnosis Division of the Bambino Gesù Children's Hospital, in Rome, between March 2011 and May 2020. Cysts were classified by the original ultrasound examiner as 'simple' (unilocular anechoic cyst) or 'complex' (cyst with other morphology). In addition, three ultrasound examiners, experienced in gynecologic ultrasound, classified retrospectively the fetal ovarian cysts according to IOTA terminology, by reviewing stored ultrasound images. The evolution of these fetal ovarian cysts during pregnancy and after birth was recorded. Results: Included were 51 ovarian cysts in 48 fetuses. Of the 51 cysts, 29 (56.9%) had been classified by the original ultrasound examiner as 'simple', and 22 (43.1%) as 'complex'. Of the simple cysts, the majority (20/29 (69.0%)) resolved spontaneously after delivery, 2/29 (6.9%) resolved following intrauterine aspiration, 2/29 (6.9%) resolved after postnatal aspiration and 5/29 (17.2%) underwent surgery due to persistence after delivery; in all five, normal ovarian parenchyma without signs of necrosis was observed at histology. Of the complex cysts, 7/22 (31.8%) resolved spontaneously. The other 15/22 (68.2%) were removed surgically and, at histology, necrosis was observed in most (12/15 (80.0%)), while a benign epithelial cyst with normal ovarian parenchyma was observed in 3/15 (20%). After reviewing the ultrasound images and applying IOTA terminology, all 51 (100%) fetal cysts were described as unilocular; 29/51 (56.9%) cysts showed anechoic content (described as simple cysts by the original ultrasound examiner), and 10/51 (19.6%) had low‐level, 1/51 (2.0%) had ground‐glass, 9/51 (17.6%) had hemorrhagic, 1/51 (2.0%) had mixed and 1/51 (2.0%) had undefined content (all described as complex by the original ultrasound examiner). Among the 29 anechoic ovarian cysts, resolution was observed in most (24/29, 82.8%) cases. Similarly, resolution was observed in 7/10 (70.0%) cysts with low‐level content. Resolution was not observed in any of the other 12 cysts and all of these cases underwent surgery, with evidence of necrosis being observed in 11 (91.7%). Conclusions: Applying IOTA terminology provided a more detailed and accurate description of fetal ovarian cysts compared with the original classification into 'simple' and 'complex' categories. Anechoic cysts (described as simple cysts by the original ultrasound examiner) and cysts with low‐level content (described as complex by the original ultrasound examiner) frequently resolved spontaneously. Cysts with ground‐glass, hemorrhagic, mixed or undefined content were frequently associated with necrosis at histology following surgery. © 2022 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

Background: Two randomized controlled trials compared the neonatal and infant outcomes after fetoscopic endoluminal tracheal occlusion with expectant prenatal management in fetuses with severe and moderate isolated congenital diaphragmatic hernia, respectively. Fetoscopic endoluminal tracheal occlusion was carried out at 27+0 to 29+6 weeks' gestation (referred to as "early") for severe and at 30+0 to 31+6 weeks ("late") for moderate hypoplasia. The reported absolute increase in the survival to discharge was 13% (95% confidence interval, -1 to 28; P=.059) and 25% (95% confidence interval, 6-46; P=.0091) for moderate and severe hypoplasia.Objective: Data from the 2 trials were pooled to study the heterogeneity of the treatment effect by observed over expected lung-to-head ratio and explore the effect of gestational age at balloon insertion.Study Design: Individual participant data from the 2 trials were reanalyzed. Women were assessed between 2008 and 2020 at 14 experienced fetoscopic endoluminal tracheal occlusion centers and were randomized in a 1:1 ratio to either expectant management or fetoscopic endoluminal tracheal occlusion. All received standardized postnatal management. The combined data involved 287 patients (196 with moderate hypoplasia and 91 with severe hypoplasia). The primary endpoint was survival to discharge from the neonatal intensive care unit. The secondary endpoints were survival to 6 months of age, survival to 6 months without oxygen supplementation, and gestational age at live birth. Penalized regression was used with the following covariates: intervention (fetoscopic endoluminal tracheal occlusion vs expectant), early balloon insertion (yes vs no), observed over expected lung-to-head ratio, liver herniation (yes vs no), and trial (severe vs moderate). The interaction between intervention and the observed over expected lung-to-head ratio was evaluated to study treatment effect heterogeneity.Results: For survival to discharge, the adjusted odds ratio of fetoscopic endoluminal tracheal occlusion was 1.78 (95% confidence interval, 1.05-3.01; P=.031). The additional effect of early balloon insertion was highly uncertain (adjusted odds ratio, 1.53; 95% confidence interval, 0.60-3.91; P=.370). When combining these 2 effects, the adjusted odds ratio of fetoscopic endoluminal tracheal occlusion with early balloon insertion was 2.73 (95% confidence interval, 1.15-6.49). The results for survival to 6 months and survival to 6 months without oxygen dependence were comparable. The gestational age at delivery was on average 1.7 weeks earlier (95% confidence interval, 1.1-2.3) following fetoscopic endoluminal tracheal occlusion with late insertion and 3.2 weeks earlier (95% confidence interval, 2.3-4.1) following fetoscopic endoluminal tracheal occlusion with early insertion compared with expectant management. There was no evidence that the effect of fetoscopic endoluminal tracheal occlusion depended on the observed over expected lung-to-head ratio for any of the endpoints.Conclusion: This analysis suggests that fetoscopic endoluminal tracheal occlusion increases survival for both moderate and severe lung hypoplasia. The difference between the results for the Tracheal Occlusion To Accelerate Lung growth trials, when considered apart, may be because of the difference in the time point of balloon insertion. However, the effect of the time point of balloon insertion could not be robustly assessed because of a small sample size and the confounding effect of disease severity. Fetoscopic endoluminal tracheal occlusion with early balloon insertion in particular strongly increases the risk for preterm delivery. [ABSTRACT FROM AUTHOR]

Abstract: Background/Purpose: Technical refinements and increasingly sophisticated equipment have led to higher sensitivity in prenatal diagnosis of congenital malformations; however, such progress may be accompanied by decreased specificity. The aim of this study is to evaluate evolution of prenatal diagnosis from the first sonographic suspicion of fetal anomaly until after delivery (diagnosis confirmed, resolution before birth, healthy baby, or affected with different disorder) to document rate of false-positive (FP) results. Methods: Retrospective review of prenatal ultrasound examinations performed at our institution between 2000 and 2002 was conducted. The series includes pregnancies referred to our department after detection of thoracic and abdominal anomalies at routine obstetrical sonography and with a follow-up comprising at least the first 6 months of life. Urologic malformations were excluded. Those fetuses who proved healthy at birth were considered FP results. Results: One hundred fifty-seven fetuses/neonates underwent complete follow-up. Prenatal diagnosis of esophageal atresia resulted in 3 (27%) of 11 FPs. Finding of dilated bowel, isolated or associated with hyperechogenicity or ascites, was not predictive of small bowel obstruction in 7 (41%) of 17 fetuses. No FPs were found with regard to abdominal wall defects (8 gastroschisis and 26 omphaloceles, all confirmed at birth). Concerning thoracic malformations, no FPs were seen among the 28 cases of congenital diaphragmatic hernia, whereas diagnosis of lung malformation presented a specificity of 97% (1/28 FP). Ovarian cysts accounted for an FP rate of 17% (4/23 FPs). Overall, a percentage of FP of 12% (6/50) was seen in 2000, of 11% (5/44) in 2001, and 9% (6/63) in 2002, with no statistically significant difference. Conclusions: Because of the high FP rate regarding some particular anomalies, unnecessary psychological burden to prospective parents may ensue. This issue should be dealt with in future prospective studies. [Copyright &y& Elsevier]

Abstract: Background: Short bowel syndrome (SBS) is a severe malabsorption caused by bowel loss. Congenital intestinal anomalies (CIA) detectable by prenatal ultrasound as jejunoileal atresia, meconium peritonitis, complicated meconium ileus, and fetal volvulus can be responsible for SBS. Aims: This study aims to investigate either frequency of SBS or the morbidity in CIA population during the first admission. Material and methods: Records of CIA treated from 1997 to 2003 were reviewed. The prenatal ultrasound findings were correlated with SBS. Student''s t and χ 2 tests were performed to analyze epidemiological data, growth at discharge, sepsis, liver disease, catheter-related complications, motor developmental delay, and hospital stay in CIA with and without SBS. Results: Forty-four CIA: SBS developed in 43%, ranging from 83% in volvulus to 0% in complicated meconium ileus. Thirty-six prenatal diagnoses: a strong correlation with SBS was observed in isolated dilated bowel (58%). In SBS neonates, birth weight, gestational age, and growth at discharge were statistically lower, whereas sepsis, motor delay, and hospital stay were statistically higher. Conclusions: Many neonates with CIA detectable by prenatal ultrasound develop SBS. Short bowel syndrome presents a significant higher morbidity. The counseling should stress the frequent association between CIA and SBS as well as the significant morbidity in SBS. [Copyright &y& Elsevier]

To determine the incidence of cystic fibrosis (CF) in neonates with intestinal obstruction (NIO) secondary to meconium ileus (MI), jejunoileal atresia (JA), meconium plug syndrome (MPS), volvulus (V), and meconium peritonitis (MP) and analyze the correlation of ultrasonographic (US) signs with CF in NIO with a prenatal diagnosis of intestinal anomaly, a prospective analysis of different types of NIO from 1990 to 1998 was undertaken. Immunoreactive trypsin measurement, genetic studies, and sweat tests were performed to confirm or rule out CF. Cases with prenatal diagnosis were analyzed for gestational age, dilated bowel, ascites, hyperechoic bowel, and calcifications. Of 80 neonates, 19 (24%) had CF: 2/33 (6%) JA, 6/14 (43%) MPS, 1/14 (7.1%) MP, 10/10 (100%) MI, and 0/9 V. Thirty (37.5%) had a prenatal diagnosis of an intestinal anomaly. The overall incidence of CF in NIO with a prenatal diagnosis of intestinal anomaly was 4/30 (13%), or 333 times the estimated risk of CF in the general population. A hyperechoic pattern with dilated bowel was associated with higher specificity for CF: 3/3 cases (100%), followed by hyperechoic bowel with ascites: 3/4 cases (75%). All babies with any type of NIO should thus be screened for CF. Prenatal screening for CF should be indicated in all pregnancies with US patterns of specific intestinal disorders. [ABSTRACT FROM AUTHOR]

In fetal intestinal perforation, inflammation leads to production of ascites. Small bowel is usually involved by perforation with the distal ileum the most frequent site. We report the first case of prenatal perforation of the intraperitoneal part of the rectum, which presented as severe ascites at a 37 weeks’ gestation antenatal ultrasonography. As none of the reported causes of intestinal perforation were identified in our case, its etiology remained idiopathic.Journal of Perinatology (2006) 26, 717–719. doi:10.1038/sj.jp.7211602 [ABSTRACT FROM AUTHOR]

Abstract: A case report of a neonate with pulmonary arteriovenous malformation is described. The anomaly was prenatally diagnosed, and family history was positive for Rendu-Osler-Weber syndrome. Because neurologic symptoms developed during the second week of life, surgical resection was deemed the best curative option to avoid further embolic events and reoccurrence of the lesion. Previous reports detailing coil embolization therapy for pulmonary arteriovenous malformation are discussed. [Copyright &y& Elsevier]

We report a rare case of a subdiaphragmatic cyst, diagnosed prenatally during routine ultrasound screening at 25 weeks’ gestation. Serial ultrasonographic evaluation demonstrated a slight increase in the size of the cyst during pregnancy. On the basis of the anatomic site and the sonographic features of the lesion, four diagnosic hypotheses were postulated: cystic neuroblastoma, adrenal hemorrhage, duplication of the inferior third of the esophagus and retroperitoneal cystic lymphangioma. A healthy baby, weighing 3300 g and with Apgar scores of 8 and 9, was delivered vaginally at term. He underwent successful surgery at the age of 3 months. The postoperative course was uneventful and the baby is currently doing well. Histology revealed a bronchogenic cyst. [ABSTRACT FROM AUTHOR]