Congenital heart disease (CHD) is the most common neonatal congenital malformation. The variety and severity of clinical presentation depend on the cardiac structures involved and their functional ...impact. The management of newborns with CHD requires a multidisciplinary approach, in which the nutritional aspect plays an important role. An adequate caloric intake during either preand post-surgical period, in fact, improves the outcome of these patients. In addition, the failure to thrive of these children in childhood has been related to long-term cognitive delay (attention deficit disorders, aggressive behaviour and poor social and emotional development). To date, there is a lack of standardized feeding protocols and caloric goals about how to feed neonates with CHD, and current practice varies widely between centres. The latest American Society for Parenteral and Enteral Nutrition guidelines reiterate the importance of proteins, and recommend early start of enteral nutrition, also in the most severe heart diseases, such as univentricular forms. Necrotizing enterocolitis (NEC), the most frequent and feared complication of early feeding of these newborns, often represents an obstacle in spreading this practice. Furthermore, as demonstrated in premature infants, breastfeeding seems to reduce the incidence of NEC. That is why breastfeeding must be encouraged, even if it can be difficult for these mothers due to delivery complications, associated with infant disease. In addition, eating difficulties may persist even after discharge, because these patients require nutritional support through nasogastric tubes or percutaneous endoscopic gastrostomies.
Background Combined immunodeficiency with multiple intestinal atresias (CID-MIA) is a rare hereditary disease characterized by intestinal obstructions and profound immune defects. Objective We sought ...to determine the underlying genetic causes of CID-MIA by analyzing the exomic sequences of 5 patients and their healthy direct relatives from 5 unrelated families. Methods We performed whole-exome sequencing on 5 patients with CID-MIA and 10 healthy direct family members belonging to 5 unrelated families with CID-MIA. We also performed targeted Sanger sequencing for the candidate gene tetratricopeptide repeat domain 7A ( TTC7A ) on 3 additional patients with CID-MIA. Results Through analysis and comparison of the exomic sequence of the subjects from these 5 families, we identified biallelic damaging mutations in the TTC7A gene, for a total of 7 distinct mutations. Targeted TTC7A gene sequencing in 3 additional unrelated patients with CID-MIA revealed biallelic deleterious mutations in 2 of them, as well as an aberrant splice product in the third patient. Staining of normal thymus showed that the TTC7A protein is expressed in thymic epithelial cells, as well as in thymocytes. Moreover, severe lymphoid depletion was observed in the thymus and peripheral lymphoid tissues from 2 patients with CID-MIA. Conclusions We identified deleterious mutations of the TTC7A gene in 8 unrelated patients with CID-MIA and demonstrated that the TTC7A protein is expressed in the thymus. Our results strongly suggest that TTC7A gene defects cause CID-MIA.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UL, UM, UPCLJ, UPUK
The administration of the adequate amount of nutrients helps to improve a correct short-term linear growth and long-term neurocognitive development. To reduce the extra-uterine growth delay in very ...low birth weight infants (VLBW) the best strategy of nutrition (parenteral or enteral) should be established rapidly, since the first day of life. In preterm infants, nutrition can be administered parenterally and enterally. Prematurity is the most frequent indication for parenteral nutritional support due to intestinal functional immune deficiency, deficiency of digestive enzymatic systems and reduced nutritional reserve of these infants. In terms of enteral nutrition, breast milk is the first choice. In case of preterm and VLBW infants, fortifiers are used to overcome breast milk's protein and mineral deficiencies. When breast milk is not available, specific infant formula is the alternative.
•Perinatal SARS-CoV-2 infection of mothers can affect maternal and neonatal outcomes.•Existing perinatal COVID-19 registries do not compare outcomes across pandemic waves.•Maternal outcomes were ...significantly worse during the first and third waves.•The risk of prematurity was significantly higher during the first and third waves.•Conversely, the postnatal transmission rate significantly increased during the fourth wave.
To describe how SARS-CoV-2 infection at the time of delivery affected maternal and neonatal outcomes across four major waves of the COVID-19 pandemic in Italy.
This is a large, prospective, nationwide cohort study collecting maternal and neonatal data in case of maternal peripartum SARS-CoV-2 infection between February 2020 and March 2022. Data were stratified across the four observed pandemic waves.
Among 5201 COVID-19-positive mothers, the risk of being symptomatic at delivery was significantly higher in the first and third waves (20.8-20.8%) than in the second and fourth (13.2-12.2%). Among their 5284 neonates, the risk of prematurity (gestational age <37 weeks) was significantly higher in the first and third waves (15.6-12.5%). The risk of intrauterine transmission was always very low, while the risk of postnatal transmission during rooming-in was higher and peaked at 4.5% during the fourth wave. A total of 80% of positive neonates were asymptomatic.
The risk of adverse maternal and neonatal outcomes was significantly higher during the first and third waves, dominated by unsequenced variants and the Delta variant, respectively. Postnatal transmission accounted for most neonatal infections and was more frequent during the Omicron period. However, the paucity of symptoms in infected neonates should lead us not to separate the dyad.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
Whole-exome sequencing (WES) is a powerful and comprehensive tool for the genetic diagnosis of rare diseases, but few reports describe its timely application and clinical impact on infantile ...cardiomyopathies (CM). We conducted a retrospective analysis of patients with infantile CMs who had trio (proband and parents)-WES to determine whether results contributed to clinical management in urgent and non-urgent settings. Twenty-nine out of 42 enrolled patients (69.0%) received a definitive molecular diagnosis. The mean time-to-diagnosis was 9.7 days in urgent settings, and 17 out of 24 patients (70.8%) obtained an etiological classification. In non-urgent settings, the mean time-to-diagnosis was 225 days, and 12 out of 18 patients (66.7%) had a molecular diagnosis. In 37 out of 42 patients (88.1%), the genetic findings contributed to clinical management, including heart transplantation, palliative care, or medical treatment, independent of the patient's critical condition. All 29 patients and families with a definitive diagnosis received specific counseling about recurrence risk, and in seven (24.1%) cases, the result facilitated diagnosis in parents or siblings. In conclusion, genetic diagnosis significantly contributes to patients' clinical and family management, and trio-WES should be performed promptly to be an essential part of care in infantile cardiomyopathy, maximizing its clinical utility.
Background
In the last few years trio‐whole exome sequencing (WES) analysis has demonstrated its potential in obtaining genetic diagnoses even in nonspecific clinical pictures and in atypical ...presentations of known diseases. Moreover WES allows the detection of variants in multiple genes causing different genetic conditions in a single patient, in about 5% of cases. The resulting phenotype may be clinically discerned as variability in the expression of a known phenotype, or as a new unreported syndromic condition.
Methods
Trio‐WES was performed on a 4‐month‐old baby with a complex clinical presentation characterized by skeletal anomalies, congenital heart malformation, congenital hypothyroidism, generalized venous and arterial hypoplasia, and recurrent infections.
Results
WES detected two different homozygous variants, one in CEP57, the gene responsible for mosaic variegated aneuploidy syndrome 2, the other in DYNC2H1, the main gene associated with short‐rib thoracic dysplasia.
Conclusion
The contribution of these two different genetic causes in determining the phenotype of our patient is discussed, including some clinical signs not explained by the detected variants.
The report then highlights the role of WES in providing complete and fast diagnosis in patients with complex presentations of rare genetic syndromes, with important implications in the assessment of recurrence risk.
Whole exome sequencing (WES) allows the detection of variants in multiple genes causing different genetic conditions in a single patient. The resulting phenotype may be clinically discerned as variability in the expression of a known phenotype, or as a new unreported syndromic condition. Trio‐WES was performed in a 4 months patient with complex clinical presentation, and detected two different homozygous variants, one in CEP57, the gene responsible of mosaic variegated aneuploidy syndrome 2, the other in DYNC2H1, the main gene associated with short‐rib thoracic dysplasia. The contribution of these two different genetic causes in determining the phenotype of our patient is discussed, including some clinical signs not explained by the detected variants.
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FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SBCE, SBMB, UL, UM, UPUK
Objective
To report mode of delivery and immediate neonatal outcome in women infected with COVID‐19.
Design
Retrospective study.
Setting
Twelve hospitals in northern Italy.
Participants
Pregnant ...women with COVID‐19‐confirmed infection who delivered.
Exposure
COVID 19 infection in pregnancy.
Methods
SARS‐CoV‐2‐infected women who were admitted and delivered from 1 to 20 March 2020 were eligible. Data were collected from the clinical records using a standardised questionnaire on maternal general characteristics, any medical or obstetric co‐morbidity, course of pregnancy, clinical signs and symptoms, treatment of COVID 19 infection, mode of delivery, neonatal data and breastfeeding.
Main outcome and measures
Data on mode of delivery and neonatal outcome.
Results
In all, 42 women with COVID‐19 delivered at the participating centres; 24 (57.1%, 95% CI 41.0–72.3) delivered vaginally. An elective caesarean section was performed in 18/42 (42.9%, 95% CI 27.7–59.0) cases: in eight cases the indication was unrelated to COVID‐19 infection. Pneumonia was diagnosed in 19/42 (45.2%, 95% CI 29.8–61.3) cases: of these, 7/19 (36.8%, 95% CI 16.3–61.6) required oxygen support and 4/19 (21.1%, 95% CI 6.1–45.6) were admitted to a critical care unit. Two women with COVID‐19 breastfed without a mask because infection was diagnosed in the postpartum period: their newborns tested positive for SARS‐Cov‐2 infection. In one case, a newborn had a positive test after a vaginal operative delivery.
Conclusions
Although postpartum infection cannot be excluded with 100% certainty, these findings suggest that vaginal delivery is associated with a low risk of intrapartum SARS‐Cov‐2 transmission to the newborn.
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This study suggests that vaginal delivery may be associated with a low risk of intrapartum SARS‐Cov‐2 transmission to the newborn.
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This study suggests that vaginal delivery may be associated with a low risk of intrapartum SARS‐Cov‐2 transmission to the newborn.
This article includes Author Insights, a video available at https://vimeo.com/rcog/authorinsights16278
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BFBNIB, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SBCE, SBMB, UL, UM, UPUK
Objective: The premature birth of their infant can constitute a sudden interruption of the transition to motherhood that requires a reorganisation of the process. The present study aimed to analyse ...the experience of the transition to motherhood of preterm infants' mothers, framing it within Stern's transition to motherhood theory.
Method: A semi-structured interview was administered to 30 mothers during the recovery of the infant in the Neonatal Intensive Care Unit. The interview explored the experience of mothers related to pregnancy, the infant's birth and recovery.
Results: Thematic Analyses evidenced four interrelated themes: disconnection from the child, perception of maternal inadequacy, loss of parental role and temporal suspension. The themes showed that the mothers' experience of preterm birth not only concerns the traumatic delivery, but is also embedded in the entire process of becoming a mother within an institutional context.
Conclusions: Results were connected to Stern's theory. Findings revealed difficulties for preterm mothers that could affect the development of the maternal constellation and thus their transition to motherhood. These difficulties may influence the construction of maternal identity, mother's representation of their child and the bond with their child.
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BFBNIB, DOBA, FSPLJ, IZUM, KILJ, NUK, OILJ, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK, VSZLJ
IMPORTANCE: The management of mother-infant dyads during the ongoing severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic constitutes a major issue for neonatologists. In mothers ...with SARS-CoV-2 infection, current recommendations suggest either to separate the dyad or encourage protected rooming-in under appropriate precautions. No data are available regarding the risk of mother-to-infant transmission of SARS-CoV-2 during rooming-in. OBJECTIVE: To evaluate the risk of postnatal transmission of SARS-CoV-2 from infected mothers to their neonates following rooming-in and breastfeeding. DESIGN, SETTING, AND PARTICIPANTS: A prospective, multicenter study enrolling mother-infant dyads from March 19 to May 2, 2020, followed up for 20 days of life (range, 18-22 days), was performed. The study was conducted at 6 coronavirus disease 2019 maternity centers in Lombardy, Northern Italy. Participants included 62 neonates born to 61 mothers with SARS-CoV-2 infection who were eligible for rooming-in practice based on the clinical condition of the mother and infants whose results of nasopharyngeal swabs were negative at birth. EXPOSURES: Mothers with SARS-CoV-2 infection were encouraged to practice rooming-in and breastfeeding under a standardized protocol to minimize the risk of viral transmission. MAIN OUTCOMES AND MEASURES: Clinical characteristics and real-time reverse transcriptase-polymerase chain reaction for SARS-CoV-2 on neonatal nasopharyngeal swabs at 0, 7, and 20 days of life. RESULTS: Of the 62 neonates enrolled (25 boys), born to 61 mothers (median age, 32 years; interquartile range, 28-36 years), only 1 infant (1.6%; 95% CI, 0%-8.7%) was diagnosed as having SARS-CoV-2 infection at postbirth checks. In that case, rooming-in was interrupted on day 5 of life because of severe worsening of the mother’s clinical condition. The neonate became positive for the virus on day 7 of life and developed transient mild dyspnea. Ninety-five percent of the neonates enrolled were breastfed. CONCLUSIONS AND RELEVANCE: The findings of this cohort study provide evidence-based information on the management of mother-infant dyads in case of SARS-CoV-2 maternal infection suggesting that rooming-in and breastfeeding can be practiced in women who are able to care for their infants.
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