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Objective: To evaluate fetal brain development using MRI (magnetic resonance imaging) in CDH (congenital diaphragmatic hernia)., Methods: 52 isolated left CDH and 104 control fetuses were imaged using MRI. Brain morphometry (Biparietal diameter-BPD, brain fronto-occipital diameter-BFOD, third ventricle, posterior ventricles, transcerebellar diameter-TCD, anteroposterior and craniocaudal cerebellar vermis diameter-AP and CC) and cortical structures (bilateral cingulate fissure-CF, insular fissure-IF, insular depth - ID) were compared with controls using Mann-Whitney test., Results: Median gestational age at MRI (p = 0.95)and the median biparietal diameter (p = 0.737) were comparable. Among morphometric parameters, only the brain fronto-occipital diameter was significantly smaller in CDH (p = 0.001) and the third ventricle was significantly greater in CDH (<0.0001). Among cortical structures, the cingulate and insular fissures were significantly deeper in CDH fetuses (p < 0.0001) as the insular depth ID was smaller in CDH (p < 0.03)., Conclusions: CDH fetuses have a smaller fronto-occipital diameter, reduced insular depth, deeper cingulate and insular fissure, and greater third ventricle width as compared to controls. These findings suggest that left CDH may have an impact on fetal brain development with an overall reduction in brain volume., (© 2023 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd.)

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: To evaluate polyhydramnios as a sign of extreme disproportion of atretic segments in small bowel atresia (SBA)., Methods: Twenty-eight patients with a prenatal diagnosis (PD) of SBA undergoing neonatal surgical treatment were reviewed retrospectively. Parameters recorded were gestational age, birth weight, surgical procedure, rate of complications, parenteral nutrition (PN) days and length of stay (LOS). Patients were divided into two groups: Group A with delayed anastomosis and Group B with direct anastomosis., Results: Seventeen subjects were in Group A while 11 were in Group B. The two groups did not differ with regard to gestational age at diagnosis, birth weight and obstetrical management. Polyhydramnios was present in both Group A (64.7%) and Group B (9%) (p < 0.05). Patients in Group A needed a longer period on PN, had a longer LOS and exhibited significantly higher rates of complication., Conclusion: In the absence of other malformations, association of dilated bowel loops and polyhydramnios is highly predictive of severe SBA, which can in no instance be amenable to one-stage reconstruction. Because of its consequences on postnatal treatment, such information should be conveyed to the prospective parents at the time of counselling., (2006 John Wiley & Sons, Ltd.)

Background: Wolf-Hirschhorn syndrome (WHS) is a well-known genetic condition characterized by typical facial anomalies, midline defects, skeletal anomalies, prenatal and postnatal growth retardation, hypotonia, mental retardation, and seizures. Affected patients with a microdeletion on distal 4p present a milder phenotype that lacks congenital malformations. WHS is rarely associated with congenital diaphragmatic hernia (CDH), and only 8 cases are reported in the literature. In almost all cases of CDH and WHS a large deletion of the short arm of chromosome 4 is present., Case: A microdeletion of 2.6 Mb on distal 4p associated with CDH and multiple congenital malformations (i.e., cleft palate) is reported for the first time., Conclusions: Such a microdeletion should prompt a molecular study for WHS when in a fetus/newborn with CDH the association with cleft lip/palate and typical facial appearance (flat facial profile, hypertelorism) is found., (Copyright 2006 Wiley-Liss, Inc.)