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A reduced nephron number may play a role in the pathogenesis of arterial hypertension (AH), and it is well recognized that individual nephron endowment is widely variable. However, nephrons count is technically impossible in vivo. Based on the observation that subjects with a reduced nephron mass exhibit an increase in renal functional biomarkers during acute dehydration, we hypothesized that cystatin C concentration during neonatal physiological dehydration could identify subjects with reduced nephron endowment. This is a prospective, observational, cohort study enrolling healthy, caucasian, term neonates born after an uneventful pregnancy. Two groups of newborns were compared: neonates born to fathers on antihypertensive treatment (HF) versus those born to proven normotensive fathers older than 40 years of age (NF). Enrolled newborns underwent cystatin C determination at the time of newborn screening. Forty newborns with HF and 80 with NF were enrolled. No differences in baseline characteristics were observed between the two groups except for the number of hypertensive grandparents higher among newborns to HF (47.8% vs. 21.1%; p: 0.001). Cystatin C was significantly higher in newborns with HF (1.62 ± 0.30 mg/L vs 1.41 ± 0.27 mg/L; p

Background CHARGE syndrome (CS) is an autosomal dominant genetic condition whose recognition in the neonatal period is complicated by considerable phenotypic variability. Pediatric patients with genetic disorders have a known high incidence of hypoglycemia, due to many concurring factors. To date, neonatal hypoglycemia is a feature poorly explored in the literature associated with CS. This paper adds to the existing literature on hypoglycemia in CS and provides a brief review of the mechanisms through which CS, as well as the main genetic syndromes associated with neonatal hypoglycemia, may determine it. Case presentation The patient was a term newborn, first-born daughter to non-consanguineous parents. At birth, axial hypotonia with slight hypertonia of the limbs, and dysplastic auricles were noted. The incidental finding of asymptomatic hypoglycemia led to the initiation of glucose infusion on the II day of life, continued for a total of 8 days (maximum infusion rate: 8 mg/kg/min). In-depth endocrinological examinations showed poor cortisol response to the hypoglycemic stimulus, with normal GH values, thyroid function and ACTH. In view of the suspected hypoadrenalism, oral hydrocortisone therapy was initiated. Inappropriately low values of plasmatic and urinary ketones supported the hypothesis of concomitant transient hyperinsulinism, not requiring therapy. A brain MRI was performed, documenting thinning of the optic nerves, non-displayable olfactory bulbs and dysmorphic corpus callosum. An eye examination revealed bilateral chorioretinal coloboma. Temporal bone CT scan showed absence of the semicircular canals. The unexpected findings of coloboma and absence of semicircular canals led to the suspicion of CS, later confirmed by the molecular analysis of CHD7. Conclusions It seems important to consider CS in the differential diagnosis of persistent hypoglycemia in newborns with specific anomalies. At the same time, it is advisable to consider the risk of hypoglycemia in children with CS, as well as other genetic syndromes. Awareness of the many possible causes of hypoglycemia in newborns with genetic conditions may help steer the investigations, allowing for an appropriate and timely treatment.

The benefits of human milk in preterm infants, a population at high risk for developing adverse outcomes for which breast milk is a protective factor, are widely acknowledged. However, preterms’ admission in a neonatal intensive care unit (NICU) and newborn’s clinical conditions have been described as significant barriers, leading to lower rates of breastfeeding initiation and duration. Healthcare workers play a crucial role in encouraging breastfeeding. We conducted a cross-sectional survey among nurses working in six Italian NICUs, exploring their knowledge and attitude towards breastfeeding. Although the majority of nurses had a specific breastfeeding education, our results show still some variations among answers regarding aspects of breastfeeding support in this setting. Specifically, family-centered care, transition feeding to the breast, and skin-to-skin practice, despite being extensively addressed by the Neo Baby-Friendly Hospital Initiative, are the items that highlighted a range of answers that could result in conflicting information to mothers. Conclusion: By underlining the gaps of knowledge and attitude towards breastfeeding of nurses working in NICUs, this study provides an insight into what needs to be improved, with the aim of promoting higher rates of breastfeeding in the preterm population.

In the late 2020s, less than 1 year into the coronavirus disease 2019 (COVID-19) pandemic, several anti-severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccines were introduced on a worldwide scale, with a significant positive impact on the consequences of the disease for several high-risk population groups. In the case of most bacterial or viral respiratory infections, pregnant women are at increased risk of complications, however, neither pregnant nor breastfeeding women were included in the first round of randomized clinical trials evaluating the safety and effectiveness of COVID-19 vaccines, because of safety and ethical concerns. Nevertheless, most anti-SARS-CoV-2 vaccines have not been expressly contraindicated during pregnancy or breastfeeding, and observational data on immune response, adverse effects, and clinical efficacy in pregnant and breastfeeding women have been progressively gathered during 2021. The vast majority of these data is reassuring for what concerns side effects for women and infants and points out the efficacy of vaccines in protecting women against COVID-19-related complications. Despite this, the hesitancy of pregnant and breastfeeding women at being vaccinated is still real. In this mini-review, we resume the available data on the clinical consequences of COVID-19 in pregnant women, as well as adverse effects, systemic and mucosal immune response, and clinical effectiveness of COVID-19 vaccines in pregnant and breastfeeding women. Moreover, we offer an updated overview of European, North American, and Australasian recommendations concerning COVID-19 vaccination in pregnant and breastfeeding women, in order to safely ensure the highest protection of women and their infants.

OBJECTIVE To determine variations in cord blood gas (CBG) parameters after 3-minute delayed cord clamping (DCC) in vaginal deliveries (VDs) and caesarean deliveries (CDs) at term without fetal distress. DESIGN Prospective observational study. SETTING University hospital. SAMPLE CBG from 97 VDs and 124 CDs without fetal distress. METHODS Comparison of paired arterial-venous CBG parameters drawn at birth from the unclamped cord and after 3-minutes DCC for VDs and CDs. MAIN OUTCOME MEASURES Base excess, bicarbonate, haematocrit and haemoglobin from both arterial and venous cord blood, lactate, neonatal outcomes, partial pressure of oxygen (pO2 ), partial pressure of carbon dioxide (pCO2 ), pH, and postpartum haemorrhage. RESULTS Arterial cord blood pH, bicarbonate ( HCO3- , mmol/l), and base excess (BE, mmol/l) decreased significantly after 3-minute DCC both in VDs (pH = 7.23 versus 7.27; P

Fathers are known to impact breastfeeding outcomes. We aimed to explore paternal knowledge and attitude toward breastfeeding, and possible association with breastfeeding rates at discharge. In this cross-sectional study, we enrolled 200 fathers of healthy term neonates. At discharge, fathers were asked to rate their degree of agreement to 12 items on a 5-point Likert scale. A total score was obtained from their answers. Univariate binary logistic regression analysis was used to verify if the total score was predictive of exclusive breastfeeding at discharge. A multivariable logistic regression model was then used to adjust for possible confounders. ROC analysis was performed, and a Youden’s total score cut-off value was determined to define total score’s performance in predicting exclusive breastfeeding at discharge. Fathers showed a solid knowledge of maternal (87%) and neonatal (98%) benefits of breastfeeding, skin-to-skin (99.5%), rooming-in (79%), and responsive feeding (67.5%); conversely, only 51% knew about the recommended use of pacifiers. Fathers felt personally involved in babies’ feeding in 79% of cases. An association was found between total score and exclusive breastfeeding at discharge at univariate (OR: 1.07, p = 0.04) but not at multivariable analysis (OR: 1.07, p = 0.067). ROC analysis was not statistically significant (AUC 0.58, p = 0.083).Conclusion: By using a novel instrument aimed at quantifying fathers’ knowledge and overall attitude toward breastfeeding, this study underlines the importance of including fathers in the promotion of breastfeeding. Expanding the classic mother-baby dyad to a more modern mother-father-baby triad may impact breastfeeding outcomes at discharge. What is known:• Social support plays a major role in improving breastfeeding outcomes.• Fathers may greatly influence initiation and duration of breastfeeding; the more they know, the more helpful they can be.What is new:• A multidisciplinary team created a structured questionnaire aimed at quantifying fathers’ knowledge and attitude toward breastfeeding.• The association between a higher questionnaire total score and exclusive breastfeeding rates at discharge highlights the importance of including fathers in the promotion of breastfeeding, as part of the breastfeeding team.

The anti-infective properties of breast milk have been known for decades. In recent years, an increasing number of papers have described the variety of bioactive compounds that are present in breast milk with varying degrees of antiviral activity. However, to date, the totality of the properties of these compounds is not fully understood and, above all, their synergistic interaction is not yet known. The purpose of this review is to describe the current knowledge about the antiviral compounds in breast milk, both with specific and non-specific action against pathogens. Due to the current pandemic situation from SARS-CoV-2 (Severe acute respiratory syndrome Coronavirus-2), research has focused on a multitude of potential antiviral substances, taking breast milk as a biological model of reference. Future research is needed to expand the knowledge of these compounds, which will hopefully assist in the development of therapies applicable even at later ages.

As preterm birth rates are globally increasing, together with research on preterms’ peculiar needs, neonatologists are still facing the challenge of how to properly feed them. The need to strike a balance between excessive catch-up growth and extrauterine growth retardation, both leading to adverse outcomes, is made even more difficult by the broad range of preterms’ needs. Although mother’s fresh milk is undoubtedly the best nourishment, its availability during hospital stay is often lower than recommended, and its fortification at discharge is still an open issue. Formula milks are available as an alternative to breast milk. However, choosing the right formula requires a thorough evaluation of the infant’s perinatal history and targets. Last but not least, adequate timing and initiation of weaning in premature babies are still a poorly explored matter. This narrative review aims at evaluating the multitude of issues to consider when feeding preterms in the three stages of their first life: in-hospital care, discharge, and, eventually, weaning. Given the current absence of internationally shared guidelines, understanding the potential pitfalls of preterms’ nutrition could help us trace the right path for the right preterm.

Background An early diagnosis of CHARGE syndrome is challenging, especially for the primary care physicians who often take care of neonates with multiple congenital anomalies. Here we report eight cases of CHARGE syndrome whose diagnosis was made early in life with the intent to identify the most helpful features allowing a prompt clinical diagnosis. Methods Medical records of patients with CHARGE syndrome whose diagnosis was made at the Fondazione IRCCS Ca′ Granda Ospedale Maggiore Policlinico in Milan, Italy were retrospectively reviewed. Results Taken together, these patients reflect the considerable phenotypic variability of the syndrome; in one patient, the diagnosis was made immediately after birth because all the major criteria were met. In six patients, presenting with relatively nonspecific defects, a temporal bone computerized tomography scan was essential to achieve the correct diagnosis. In one patient, the diagnosis was made later than the others were. A careful examination revealed the presence of outer, middle, and inner ear anomalies: these elements, in the absence of any additional major criteria, represented for us an important diagnostic clue. Conclusions This article suggests that an accurate evaluation of the ear should be made every time CHARGE syndrome is considered as a likely diagnosis even when the standard criteria are not fulfilled.

The benefits of human milk in preterm infants, a population at high risk for developing adverse outcomes for which breast milk is a protective factor, are widely acknowledged. However, preterms' admission in a neonatal intensive care unit (NICU) and newborn's clinical conditions have been described as significant barriers, leading to lower rates of breastfeeding initiation and duration. Healthcare workers play a crucial role in encouraging breastfeeding. We conducted a cross-sectional survey among nurses working in six Italian NICUs, exploring their knowledge and attitude towards breastfeeding. Although the majority of nurses had a specific breastfeeding education, our results show still some variations among answers regarding aspects of breastfeeding support in this setting. Specifically, family-centered care, transition feeding to the breast, and skin-to-skin practice, despite being extensively addressed by the Neo Baby-Friendly Hospital Initiative, are the items that highlighted a range of answers that could result in conflicting information to mothers.Conclusion: By underlining the gaps of knowledge and attitude towards breastfeeding of nurses working in NICUs, this study provides an insight into what needs to be improved, with the aim of promoting higher rates of breastfeeding in the preterm population. What is Known: • Breastfeeding is particularly challenging in the preterm population, despite its universally recognized health benefits. • Improving healthcare professionals' knowledge and attitude towards breastfeeding has been shown to be crucial for promoting breastfeeding in NICUs. What is New: • Our results provide useful insight into nurses' knowledge and attitude towards breastfeeding in NICU settings. • By acknowledging strengths and weaknesses highlighted by this study, tailored strategies could be developed to improve health staff breastfeeding education and support to parents in NICU settings.

The STAR syndrome is a rare X-linked dominant developmental disorder caused by point mutations in the single FAM58A gene or deletions involving FAM58A and its flanking genes. The STAR phenotype is characterized by a rather homogeneous constellation of facial dysmorphisms and malformations summarized by its acronym, Syndactyly, Telecanthus, Anogenital, and Renal malformations. Here we describe a female patient with STAR syndrome and a 130 kb deletion at Xq28, including the FAM58A gene. She presented with cleft lip palate, omphalocele, and cerebral malformations not previously considered part of the phenotypic spectrum of this syndrome. She died at 6 weeks from respiratory failure.

Background: The importance of rooming-in in promoting breastfeeding initiation and continuation within the 10 Steps for Successful Breastfeeding is widely acknowledged. However, adherence to this practice by healthcare facilities is lower than that of other Steps. A deeper knowledge of maternal rooming-in experience has been advocated to identify the most effective rooming-in policies, thus enabling mothers to have a positive experience when practicing it in the postpartum period.Aim: To investigate maternal knowledge of rooming-in and the most frequently encountered barriers and possible facilitators of adherence to the practice, according to their experience.Study Design and Methods: We enrolled mothers who delivered healthy term or late preterm infants during the month of January 2019 in a tertiary referral center for neonatal care in Milan, Italy. At discharge, a structured interview about mothers' rooming-in experience was administered by healthcare professionals. Basic subjects' characteristics and mode of feeding were recorded.Results: The enrolled population included 328 mothers and 333 neonates. The great majority of mothers knew of rooming-in and 48.2% practiced it continuously. The 86.3% of mothers was aware of the beneficial effects of rooming-in; promotion of mother-infant bonding, increased confidence in taking care of the baby and ability to recognize baby's feeding cues were the most frequently cited, whereas improving breastfeeding was reported by a limited number of mothers, unless they were asked a specific question about it. The main reported obstacles were fatigue (40.5%) and cesarean section related difficulties (15.5%); night was the most critical time of the day for rooming-in. Strategies suggested by mothers for improving rooming-in were increased assistance to the dyad, organizational and structural changes and the possibility to have a family member during the night. Additionally, mothers who adhered to rooming-in practice continuously during hospital stay had a higher exclusive breastfeeding rate at discharge compared to mothers who did not.Conclusions: Our study contributes to a deeper knowledge of maternal rooming-in experience in an Italian tertiary maternity. We underline the importance of providing a tailored support to the mother-infant dyad in order to overcome rooming-in barriers perceived by mothers and promote a positive rooming-in experience.

Background: The importance of rooming-in in promoting breastfeeding initiation and continuation within the 10 Steps for Successful Breastfeeding is widely acknowledged. However, adherence to this practice by healthcare facilities is lower than that of other Steps. A deeper knowledge of maternal rooming-in experience has been advocated to identify the most effective rooming-in policies, thus enabling mothers to have a positive experience when practicing it in the postpartum period. Aim: To investigate maternal knowledge of rooming-in and the most frequently encountered barriers and possible facilitators of adherence to the practice, according to their experience. Study Design and Methods: We enrolled mothers who delivered healthy term or late preterm infants during the month of January 2019 in a tertiary referral center for neonatal care in Milan, Italy. At discharge, a structured interview about mothers' rooming-in experience was administered by healthcare professionals. Basic subjects' characteristics and mode of feeding were recorded. Results: The enrolled population included 328 mothers and 333 neonates. The great majority of mothers knew of rooming-in and 48.2% practiced it continuously. The 86.3% of mothers was aware of the beneficial effects of rooming-in; promotion of mother-infant bonding, increased confidence in taking care of the baby and ability to recognize baby's feeding cues were the most frequently cited, whereas improving breastfeeding was reported by a limited number of mothers, unless they were asked a specific question about it. The main reported obstacles were fatigue (40.5%) and cesarean section related difficulties (15.5%); night was the most critical time of the day for rooming-in. Strategies suggested by mothers for improving rooming-in were increased assistance to the dyad, organizational and structural changes and the possibility to have a family member during the night. Additionally, mothers who adhered to rooming-in practice continuously during hospital stay had a higher exclusive breastfeeding rate at discharge compared to mothers who did not. Conclusions: Our study contributes to a deeper knowledge of maternal rooming-in experience in an Italian tertiary maternity. We underline the importance of providing a tailored support to the mother-infant dyad in order to overcome rooming-in barriers perceived by mothers and promote a positive rooming-in experience.

Background: The role of hemostasis in the closure of patent ductus arteriosus (PDA) in preterm infants is controversial. Objective: To assess thromboelastography (TEG) at birth in very-low-birth-weight (VLBW) infants affected by PDA. Methods: This was an ancillary study of a prospective observational study aimed at defining the TEG profile in healthy VLBW infants in the first month of life. In this analysis, we included neonates of Results: We enrolled 151 infants with a PDA at the first echocardiogram; 111 experienced spontaneous PDA closure while 40 required treatment. Mean GA was 29.7 ± 1.7 and 27.6 ± 2.1 weeks, and birth weight was 1,158 ± 256 and 933 ± 263 g in the 2 groups, respectively (p < 0.001). The hemostatic profile was similar between groups. Median hematocrit (44.6 and 48.7%; p = 0.01) and platelet count (187 and 216 × 103/μL; p = 0.04) were lower in the treated group, although differences lost significance after controlling for GA and illness severity in the multivariate analysis. Responders to PDA treatment (n = 20) had a significantly lower median Ly30 than nonresponders (0 and 0.7%; p = 0.02). Conclusion: TEG at birth does not predict spontaneous PDA closure in preterm newborns. Fibrinolysis is enhanced in nonresponders to PDA treatment; this observation warrants further investigation.

Although breast milk is the normative feeding for infants, breastfeeding rates are lower than recommended. We investigated breastfeeding difficulties experienced by mothers in the first months after delivery and their association with early breastfeeding discontinuation. We conducted a prospective observational study. Mothers breastfeeding singleton healthy term newborns at hospital discharge were enrolled and, at three months post-delivery, were administered a questionnaire on their breastfeeding experience. Association among neonatal/maternal characteristics, breastfeeding difficulties and support after hospital discharge, and type of feeding at three months was assessed using multivariate binary logistic regression analysis. We enrolled 792 mothers, 552 completed the study. Around 70.3% of mothers experienced breastfeeding difficulties, reporting cracked nipples, perception of insufficient amount of milk, pain, and fatigue. Difficulties occurred mostly within the first month. Half of mothers with breastfeeding issues felt well-supported by health professionals. Maternal perception of not having a sufficient amount of milk, infant&rsquo, s failure to thrive, mastitis, and the return to work were associated with a higher risk of non-exclusive breastfeeding at three months whereas vaginal delivery and breastfeeding support after hospital discharge were associated with a decreased risk. These results underline the importance of continued, tailored professional breastfeeding support.

Objective The objective of the study is to examine the incidence of chromosomal or genetic abnormalities in pregnancies complicated by polyhydramnios and to assess the value of prenatal ultrasound findings in the prediction of cases associated with such disorders. Methods We searched the prenatal records of all patients delivered in our hospital with a diagnosis of polyhydramnios during pregnancy. For each case, maternal characteristics, ultrasound findings, and genetic testing results were recorded. A postnatal follow-up program of at least 6 months, including a clinical assessment by a clinical geneticist, was carried out in all cases. Results On a total of 195 cases, genetic testing and clinical examination identified a chromosomal or genetic disease in 26 (13.3%) cases. Multivariate analysis demonstrated that significant predictors of a genetic disorder were a deepest vertical pocket of amniotic fluid of ≥13.0 cm (OR 4.306, 95%CI: 1.535–12.079) and reduced fetal movements (OR 25.084, 95%CI: 4.577–137.461), but not the presence of a structural defect. Conclusion A postnatal clinical follow-up program can reveal chromosomal or genetic disorders in about 13% of neonates with a prenatal diagnosis of polyhydramnios. The severity of polyhydramnios and the reduction of fetal movements are independently associated with the presence of such diseases. © 2016 John Wiley & Sons, Ltd.

The late preterm infant population is increasing globally. Many studies show that late preterm infants are at risk of experiencing challenges common to premature babies, with breastfeeding issues being one of the most common. In this study, we investigated factors and variables that could interfere with breastfeeding initiation and duration in this population. We conducted a prospective observational study, in which we administered questionnaires on breastfeeding variables and habits to mothers of late preterm infants who were delivered in the well-baby nursery of our hospital and followed up for three months after delivery. We enrolled 149 mothers and 189 neonates, including 40 pairs of twins. Our findings showed that late preterm infants had a low rate of breastfeeding initiation and early breastfeeding discontinuation at 15, 40 and 90 days of life. The mothers with higher educational levels and previous positive breastfeeding experience had a longer breastfeeding duration. The negative factors for breastfeeding were the following: Advanced maternal age, Italian ethnicity, the feeling of reduced milk supply and having twins. This study underlines the importance of considering these variables in the promotion and protection of breastfeeding in this vulnerable population, thus offering mothers tailored support.

Objective: To compare the effect of Delayed Cord Clamping (DCC) to Immediate Cord Clamping (ICC) on phototherapy treatment in a cohort of cesarean-delivered newborns with AB0-alloimmunization.Study Design: In a retrospective cohort study neonates with Gestational Age (GA) ≥ 35 weeks and diagnosed with AB0-alloimmunization before implementation of DCC (ICC group) were compared with neonates born after implementation (DCC group). The primary outcome was the need for phototherapy. Secondary outcomes included hospital stay, readmission rate, need for extra intravenous fluids, maximum bilirubin concentration, and hours of life at bilirubin peak. We used regression models to adjust for weight loss, type of feeding, birth weight, and gestational age.Results: In total 336 neonates were included, of which 192 neonates in the ICC group and 144 in the DCC group. There were no differences in basic characteristics between the two groups except for birth weight (ICC 3193 ± 468 g vs. DCC 3053 ± 446 g, p = 0.01) and GA (ICC 38.2 ± 1 weeks of GA, vs. DCC 37.9 ± 1 weeks of GA; p = 0.01). When adjusted for confounding factors, after implementation of DCC, significantly more infants with AB0 alloimmunization needed phototherapy (22.4% vs. 36.8%, RR 1.61 CI: 1.15–2.28; p = 0.006; Number Needed to Harm 7), needed to stay longer in hospital (20.3% vs. 30.5%, RR 1.53 CI: 1.05–2.23; p = 0.03). The maximum bilirubin was higher (11.4 ± 4.0 mg/dl vs. 12.9 ± 3.5 mg/dl, p < 0.001) and occurred later [74 (67–92) hours vs. 84 (70–103) hours; p = 0.04]. There was no difference in the need for intravenous fluids (1.6% vs. 4.9%; not significant) and readmissions (1.6% vs. 3.5%; not significant).Conclusion: Infants with AB0 alloimmunization needed more often phototherapy and were admitted longer after implementation of DCC policy. Further studies are needed to see whether the benefit of DCC outweighs the increased morbidity, admission days, and related hospital costs.

Numerous malformations can affect the anterior part of the neck presenting at birth as a real diagnostic challenge for the pediatrician or the primary care physician who initially evaluate the baby. Congenital midline cervical cleft represents a rare defect of the midline neck, which is sometimes wrongly diagnosed as a thyroglossal duct anomaly, dermoid cyst, branchial cleft anomaly or "birthmark". A prompt clinical diagnosis and surgical treatment during early infancy are essential to ensure both functional and aesthetic outcome. We report a case of a female neonate with a midline cervical cleft diagnosed immediately after birth. The main features of other congenital anomalies of the anterior neck are also discussed referring to their embryologic origin.

Breastfeeding is the normative standard for infant feeding. Despite its established benefits, different factors can affect breastfeeding rates over time. The purpose of this study was to evaluate breastfeeding determinants in healthy term newborns during the first three months of life. A prospective, observational, single-center study was conducted in the nursery of Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico in Milan, Italy. The mother-baby dyads that were admitted to the Clinic in January and February 2017 were enrolled. Only healthy term babies with birth weight ≥10th percentile for gestational age were included. Data were collected through medical records and questionnaires administered during the follow-up period. Then, we fitted univariate and multivariate logistic models and calculated odds ratios. 746 dyads were included but 640 completed the study. The factors found to be favoring breastfeeding were a previous successful breastfeeding experience, a higher level of education of the mother, attending prenatal classes, no use of pacifier, rooming in practice, and breastfeeding on demand. Factors acting negatively on breastfeeding were advanced maternal age, non-spontaneous delivery, perception of low milk supply, mastitis, and nipple fissures. This study highlights the need to individualize the assistance provide to breastfeeding mothers, paying special attention to personal experiences.

The objective of the study is to examine the incidence of chromosomal or genetic abnormalities in pregnancies complicated by polyhydramnios and to assess the value of prenatal ultrasound findings in the prediction of cases associated with such disorders.We searched the prenatal records of all patients delivered in our hospital with a diagnosis of polyhydramnios during pregnancy. For each case, maternal characteristics, ultrasound findings, and genetic testing results were recorded. A postnatal follow-up program of at least 6 months, including a clinical assessment by a clinical geneticist, was carried out in all cases.On a total of 195 cases, genetic testing and clinical examination identified a chromosomal or genetic disease in 26 (13.3%) cases. Multivariate analysis demonstrated that significant predictors of a genetic disorder were a deepest vertical pocket of amniotic fluid of ≥13.0 cm (OR 4.306, 95%CI: 1.535-12.079) and reduced fetal movements (OR 25.084, 95%CI: 4.577-137.461), but not the presence of a structural defect.A postnatal clinical follow-up program can reveal chromosomal or genetic disorders in about 13% of neonates with a prenatal diagnosis of polyhydramnios. The severity of polyhydramnios and the reduction of fetal movements are independently associated with the presence of such diseases. © 2016 John WileySons, Ltd.

Pearson marrow-pancreas syndrome is a multisystem mitochondrial disorder characterized by bone marrow failure and pancreatic insufficiency. Children who survive the severe bone marrow dysfunction in childhood develop Kearns-Sayre syndrome later in life. Here we report on four new cases with this condition and define their biochemical abnormalities. Three out of four patients presented with failure to thrive, with most of them having normal development and head size. All patients had evidence of bone marrow involvement that spontaneously improved in three out of four patients. Unique findings in our patients were acute pancreatitis (one out of four), renal Fanconi syndrome (present in all patients, but symptomatic only in one), and an unusual organic aciduria with 3-hydroxyisobutyric aciduria in one patient. Biochemical analysis indicated low levels of plasma citrulline and arginine, despite low-normal ammonia levels. Regression analysis indicated a significant correlation between each intermediate of the urea cycle and the next, except between ornithine and citrulline. This suggested that the reaction catalyzed by ornithine transcarbamylase (that converts ornithine to citrulline) might not be very efficient in patients with Pearson syndrome. In view of low-normal ammonia levels, we hypothesize that ammonia and carbamylphosphate could be diverted from the urea cycle to the synthesis of nucleotides in patients with Pearson syndrome and possibly other mitochondrial disorders.

Rubinstein–Taybi syndrome (RTS) is a rare multiple congenital anomalies-intellectual disability syndrome. The diagnosis is made after birth and based on the detection of signs such as growth and developmental delay, minor facial anomalies, and broad thumbs and halluces. It is rare to suspect RTS during the prenatal period. We report here the approach to a patient with RTS whose pregnancy was complicated by multiple congenital anomalies. However, in the presence of the broad thumb and facial anomalies, we were able to suggest the correct diagnosis. The RTS was confirmed at birth and the molecular analysis of the major causative gene revealed a previously unreported heterozygous truncating mutation of CREBBP. This report provides new knowledge of the fetal phenotype of RTS. © 2014 Wiley Periodicals, Inc.