Simona La Placa

Esophageal atresia in newborns: a wide spectrum from the isolated forms to a full VACTERL phenotype?

BackgroundVATER association was first described in 1972 by Quan and Smith as an acronym which identifies a non-random co-occurrence of Vertebral anomalies, Anal atresia, Tracheoesophageal fistula and/or Esophageal atresia, Radial dysplasia. It is even possible to find out Cardiovascular, Renal and Limb anomalies and the acronym VACTERL was adopted, also, embodying Vascular, as single umbilical artery, and external genitalia anomalies.MethodsData on patients with esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) admitted in the Neonatal Intensive Care Unit (NICU) between January 2003 and January 2013 were evaluated for the contingent occurrence of typical VACTERL anomalies (VACTERL-type) and non tipical VACTERL anomalies (non-VACTERL-type). The inclusion criterion was the presence of EA with or without TEF plus two or more of the following additional malformations: vertebral defects, anal atresia, cardiovascular defects, renal anomalies and lower limb deformities, like radial dysplasia.ResultsAmong 52 patients with EA/TEF, 20 (38,4%) had isolated EA and 7 (21,8%) had a recognized etiology such a syndrome and therefore were excluded. Among 32 infants with EA and associated malformations, 15 (46,8%) had VACTERL association. The most common anomalies were congenital heart defects (73,3%), followed by vertebral anomalies (66,6%). Many patients also had additional non-VACTERL-type defects. Single umbilical artery was the most common one followed by nervous system abnormalities and anomalies of toes. Between the groups of infants with VACTERL type and non-VACTERL-type anomalies, there are several overlapping data regarding both the tipically described spectrum and the most frequently reported non-VACTERL-type malformations. Thus, it is possible to differentiate infants with a full phenotype (VACTERL full phenotype) and patients that do not meet all the criteria mentioned above, but with some homologies with the first group (VACTERL partial phenotype).ConclusionThe high frequency of non-VACTERL-type anomalies encountered in full and partial phenotype patients would suggest the need for an extension of the clinical criteria for the diagnosis of VACTERL association and also for pre- and post-operative management and follow-up in the short and long term.

Predictive factors of abdominal compartment syndrome in neonatal age.

In the pediatric population, abdominal compartment syndrome (ACS) is a known complication of abdominal wall defect repair. However, there are only few reports on ACS in newborns and only a proposal of critical intra-abdominal pressure value (IAP) in term newborns, absent in preterm newborns. Although the prevalent clinical sign is tense abdominal distension, it may be difficult to distinguish ACS from pathologies that will not require decompression. The purpose of this study was to identify predictors for ACS and therefore morbidity or mortality indicators. We reviewed newborns presenting with tense abdominal distension and end organ failure. Anamnestic, clinical, laboratory, and instrumental investigations were analyzed to extrapolate predictors. Outcomes were compared with a control group. The incidence of ACS in our neonatal intensive care unit was 5% in the overall population of babies, 16% in tracheal-ventilated newborns, and 57% in infants with abdominal wall defects. We found that, with onset of acidosis or high gastric residuals, the lactate values will be predictive for mortality. We can also suggest paying particular attention to high lactate values just at the onset of distension, in infants with more advanced gestational age, with previously surgical repair, to determine early surgical intervention independently of a specific IAP measurement.

Hypercalciuria and kidney calcifications in terminal 4q deletion syndrome: Further evidence for a putative gene on 4q

We report a newborn girl with a de novo terminal 4q deletion (q31.3 → qter) and a characteristic phenotype of minor facial anomalies, cleft palate, congenital heart defect, abnormalities of hands and feet, and postnatal onset of growth deficiency. Laboratory studies showed excessive urinary calcium excretion on standard milk formula and on oral calcium load. Blood measurements of parathyroid hormone, calcitonin, bicarbonate, calcium, phosphorus, magnesium, sodium, chlorine, potassium, and urinary measurements of phosphorus, magnesium, sodium, chlorine, potassium were normal for age. At 2 months of life, ultrasonography showed kidney calcifications. Clinical and laboratory data support the diagnosis of absorptive hypercalciuria or abnormal regulation of calcium‐sensing receptors in the renal tubules. The evidence of hypercalciuria and kidney calcifications associated with 4q terminal deletion strengthens the hypothesis that a putative gene for hypercalciuria is located on the terminal segment of chromosome 4q.

Transient hepatic nodular lesions associated with patent ductus venosus in preterm infants.

We report on two cases of low-birth-weight preterm infants with patent ductus venosus associated with hepatic hypoechoic lesions of the fourth segment in an otherwise normal liver. Although tumorlike hepatic lesions have been previously reported in association with portosystemic shunts in children and adults, they were never described in preterm infants during physiological patency of ductus venosus. In our patients, hepatic lesions disappeared shortly after the spontaneous ductus closure. Physiopathologic interactions are discussed regarding altered portal blood supply caused by ductus venosus shunt.

Perfusion Index and Pulse Oximetry Screening for Congenital Heart Defects

Objective To evaluate the efficacy of combined pulse oximetry (POX) and perfusion index (PI) neonatal screening for severe congenital heart defects (sCHD) and assess different impacts of screening in tertiary and nontertiary hospitals. Study design A multicenter, prospective study in 10 tertiary and 6 nontertiary maternity hospitals. A total of 42 169 asymptomatic newborns from among 50 244 neonates were screened; exclusion criteria were antenatal sCHD diagnosis, postnatal clinically suspected sCHD, and neonatal intensive care unit admission. Eligible infants underwent pre‐ and postductal POX and PI screening after routine discharge examination. Targeted sCHD were anatomically defined. Positivity was defined as postductal oxygen saturation (SpO2) ≤95%, prepostductal SpO2 gradient >3%, or PI <0.90. Confirmed positive cases underwent echocardiography for definitive diagnosis. Missed cases were identified by consulting clinical registries at 6 regional pediatric heart centers. Main outcomes were incidence of unexpected sCHD; proportion of undetected sCHD after discharge in tertiary and nontertiary hospitals; and specificity, sensitivity, positive predictive value, and negative predictive value of combined screening. Results One hundred forty‐two sCHD were detected prenatally. Prevalence of unexpected sCHD was 1 in 1115 live births, similar in tertiary and nontertiary hospitals. Screening identified 3 sCHD (low SpO2, 2; coarctation for low PI, 1). Four cases were missed. In tertiary hospitals, 95% of unsuspected sCHDs were identified clinically, whereas only 28% in nontertiary units; in nontertiary units PI‐POX screening increased the detection rate to 71%. Conclusions PI‐POX predischarge screening provided benefits in nontertiary units, where clinical recognition rate was low. PI can help identify coarctation cases missed by POX but requires further evaluation in populations with higher rates of missed cases.

Transitional hemodynamics in infants of diabetic mothers by targeted neonatal echocardiography, electrocardiography and peripheral flow study

Abstract 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.

Congenital heart defects in newborns with apparently isolated single gastrointestinal malformation: A retrospective study

BACKGROUND Congenital gastrointestinal system malformations/abdominal wall defects (GISM) may appear as isolated defects (single or complex), or in association with multiple malformations. The high incidence of association of GISM and congenital heart defects (CHD) in patients with syndromes and malformative sequences is known, but less expected is the association of apparently isolated single GISM and CHD. The aim of this study was to investigate the frequency of CHD in newborns with isolated GISM, and the possibility to modify the diagnostic-therapeutic approach just before the onset of cardiac symptoms or complications. METHODS Anamnestic, clinical, and imaging data of newborns requiring abdominal surgery for GISM, between 2009 and 2014, were compared with a control group of healthy newborns. Distribution of GISM and cardiovascular abnormalities were analyzed, and risk factors for adverse outcomes were identified. RESULTS Seventy-one newborns with isolated GISM were included in this study. More frequent GISM were intestinal rotation and fixation disorders. CHD were observed in 15.5% of patients, augmenting their risk for morbidity. Risk factors for morbidity related to sepsis were identified in central venous catheter, intestinal stoma, and H2-inhibitor-drugs. Moreover, 28.2% of newborns presented only functional cardiac disorders but an unexpectedly higher mortality. CONCLUSIONS The high incidence of congenital heart disease in infants with apparently isolated GISM confirms the need to perform an echocardiographic study before surgery to improve perioperative management and prevent complications such as sepsis and endocarditis.

A Case of Cardiomyopathy Due to Premature Ductus Arteriosus Closure: The Flip Side of Paracetamol

APAP is not always a safe analgesic. If closed DA, cardiomyopathy, and right-heart dysfunction are detected at birth, its prenatal assumption should be sought. Paracetamol (acetaminophen or N-acetyl-p-aminophenol) is considered a safe analgesic and antipyretic nonsteroidal antiinflammatory drug commonly used during pediatric ages and during pregnancy. We report on a term neonate with closed ductus arteriosus, severe cardiomyopathy, right ventricular dysfunction, and functional stenosis of pulmonary arteries at birth after maternal self-medication with paracetamol and consumption of polyphenol-rich foods in late pregnancy. This drug, especially when associated with other vasoconstrictors (such as polyphenols), interferes with prostaglandin metabolism, which seriously accentuates the intrauterine ductus arteriosus constriction and leads to pharmacologic adverse events. We suggest maternal educational programs to avoid risky self-medications and provide training for the best diets.

Italian multicentre study found infectious and vaccine-preventable diseases in children adopted from Africa and recommends prompt medical screening

This study evaluated the prevalence of infectious diseases and immunisation status of children adopted from Africa.

Management of multiple pregnancy with an affected twin

Newborns from multiple pregnancies demonstrate a higher perinatal morbidity and mortality compared to singletons. Prematurity is more frequent in twins and therefore birth weight is significantly lower compared to singletons [1]. Thus, twins are more exposed to prematurity related diseases (respiratory, cardiovascular, infectious, etc.) and to long-term complications [2]. It is very difficult to estimate the increased risk of neonatal morbidity related to twinning independently to the increased risk of prematurity. Prematurity is the main reason for most neonatal diseases in twins, but other variables may play a role. Fetal growth restriction [3] and congenital malformationsare major issues in offspring of multiple pregnancies. Specific risks vary according tozigosity (monozygotic >dizygotic) and kind (genetic, vascular, multifactorial, etc.) and site (systems and organs involved) of malformation. Accurate risk assessment strategies and adequate obstetrical-neonatological management of multiple pregnancies may reduce the increasing need for neonatal intensive care and for health resources in the long-term follow-up that has been observed over the last decades. Careful analysis of both twins for a pathological condition is mandatory to address the most appropriate management. Twin discordance for the presence of a severe pathological condition raises serious concern in terms of bioethical and psychological impact on the parents and medical staff[4]. Different management choices can be considered: termination of pregnancy, selective embryo reduction of the affected twin, anticipation of delivery or natural course of the pregnancy. Each choicehides difficult clinical and legal implications. Accurate clinical, laboratory and ultrasonographic evaluation together with pregnancy follow-up are essential for reaching the correct diagnosis and consider prognosis and therapeutic options [5]. The risk of intrauterine death and potential risks for the other twin and the mother must be taken into account. Sometimes it is possible to wait until the natural end of pregnancy and then provide suitable treatment to the affected twin. Other times, parents opt to terminate the pregnancy and loose both twins. A selective reduction (after accurate evaluation of placentation) of the affected twin only carries a high risk of complication for the healthy twin, especially in monochorionic pregnancies. In the late third trimester of pregnancy, the option of a preterm delivery can be considered and may contribute to the increase of prematurity and prematurity related diseases in twins. The management of multiple pregnancies is a very complex task for medical staff and requires parental support with adequate counselling and psychological help [6].