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Objective: This study aimed to investigate clinical, surgical, and genetic data of neonates with anorectal malformation (ARM). Study design: A retrospective observational study was conducted on neonates with ARM as an isolated type (group 1), with ≥2 (group 2), and with ≥3 associated malformations (group 3), born between 2009 and 2020. Distribution of ARM, associated abnormalities and genetic testing were analyzed, and risk factors for adverse outcomes were identified. Results: The 45 ARM cases (36% females) were divided as follows: 13 neonates belonging to group 1 (29%), 8 to group 2 (18%), and 24 to group 3 (53%). Cases were equally distributed over 11 years. Krickenbeck anatomy was: without fistula/imperforate anus (18%), perineal fistula (36%), rectourethral fistula (4%), rectovesical fistula (2%), vestibular fistula (4%), cloaca (4%), and rare ARMs (31%). Groups showed differences in anthropometric data, Krickenbeck anatomy, and intensive care burden. Additional major congenital abnormalities were prevalent specific of VATER/VACTERL spectrum (vertebral/anorectal/cardiac/tracheoesophageal/renal/limb defects), but also Hirschsprung disease was found in 3/20 biopsies (15%). The most frequent minor abnormality was a single umbilical artery. In group 3, we identified four de novo microdeletions at 8p23.2, 8q13.3, Xp22.31-p22.2, Xq28, four de novo microduplications at 1p36.32, 6p24.1-p23, 13q14.11, 15q11.2, one microdeletion at 9q33.1 inherited from the affected mother, one microdeletion at 7q35 inherited from the unaffected father, one structurally uncharacterized rearrangement involving 9p23-q34.3. Thus, we attributed the Xq28 deletion with inactivated FAM58A gene in one girl to the X-linked dominant STAR syndrome (toe syndactyly-telecanthus-anogenital/renal malformations). Conclusions: Despite the great physical and social burden on ARM patients and their parents, in the majority of cases, the etiology is largely unknown and attributed to be multifactorial. In females, STAR syndrome should be part of the differential diagnosis. Associated malformations of other organ systems interact in outcome parameters. [ABSTRACT FROM AUTHOR]

Fetal growth restriction (FGR) or intrauterine growth restriction (IUGR) are the terms used for a fetus which has not attained its full growth potential for gestational age. FGR is a multifactorial syndrome responsible for increased fetal and neonatal morbidity and mortality as well as long term adverse outcomes involving auxological, metabolic, organic and functional domains. Clinicians distinguish early and late onset FGR, in relation to specific fetal anthropometric parameters related to the possible primary etiology and to different patterns of placental and maternal cardiovascular pathologies. Delivery of an early onset FGR or growth impaired newborn with congenital pathology should be in tertiary care center, given the high perinatal morbidity. At hospital discharge the FGR infant should be enrolled, in a multidimensional individualized developmental follow-up. Subjects who have suffered from FGR should adopt a healthy lifestyle. [ABSTRACT FROM AUTHOR]

Objective: Metabolic alterations of intrauterine environment in diabetes mellitus (DM) lead to fetal cardiac dysfunctions that can persist after birth. The aim of the study was to assess the cardiovascular adaptation in infants born to diabetic mothers (IDM) with different degrees of glycometabolic control, in relation to revised guidelines for diagnosis of DM and quality improvements in neonatal care.Materials and Methods: An observational case-control study was conducted on IDM with gestational, type 1 and type 2 DM. Relevant maternal and neonatal anamnestic, clinical and laboratory data were analyzed. Electrocardiographic and echocardiographic analyses, including structural and systo-diastolic evaluation, were performed.Results: In 68 IDM enrolled, we observed a lower incidence of negative perinatal outcome than expected. Comparing to non-IDM, they presented larger fetal shunts, higher pulmonary pressures, early and atrial wave velocities. At 72 hours, kinesis and heart rate variability remained low. Cerebral blood flow velocities were higher. The most serious impairment of transition was in pregestational IDM.Conclusion: Maternal DM impaired neonatal transitional hemodynamics also in asymptomatic IDM with good glycometabolic control. These results confirm the need for an early cardiologic and cerebrovascular evaluation, to identify IDM with delayed maturation at risk of worse long-term metabolic, cardiovascular, and neurodevelopmental outcome. [ABSTRACT FROM AUTHOR]

The impact of genetic diseases on the pediatric population in clinical practice is remarkable and their prevalence has rapidly increased in the last 50 years. A wide diffusion of modern diagnostic techniques has implemented early diagnosis and consequently the precocious start of effective support therapies which have determined an increased survival rate and quality of life. The percentage of genetics anomalies in children hospitalized is really high and amounts to at least 50% of hospital pediatric admissions. Over 5% of stillborn babies, without other known causes, have genetic disorders, and it goes up to 50% in the case of visible malformations. [ABSTRACT FROM AUTHOR]