Childhood Chronic Illness Research Articles

Challenges in Transition of Care for Patients With Anorectal Malformations: A Systematic Review and Recommendations for Comprehensive Care.

Anorectal malformations are one of the most common congenital intestinal anomalies affecting newborns. Despite advances in neonatal care and surgical techniques, many patients with a history of anorectal malformations are affected by long-term challenges involving bowel and bladder dysfunction, sexual dysfunction, and psychosocial issues. These outcomes or challenges are additionally exacerbated by the lack of a structured transition of care from the pediatric to the adult setting. The purpose of this review is to describe the long-term outcomes affecting patients with a history of anorectal malformations, review the current literature on transition of care, and make recommendations for developing a standardized program for transitioning care for a select group of colorectal surgical patients. An extensive PubMed review of articles in English was performed to evaluate current best practices for chronic illnesses of childhood with residual symptoms or need for medical care into adulthood. Meta-Analysis of Observational Studies in Epidemiology group guidelines were followed. The primary outcome for this review was the existence of transitional services for patients with a history of anorectal malformations and evaluations of long-term outcomes affecting patients with a history of anorectal malformations. Systematic review revealed improved results in transition programs as determined by patient follow-up, medication adherence, and patient and family satisfaction through the use of multidisciplinary teams. Standardized tools for assessing all aspects of patient outcomes and quality of life are essential for describing the burden of disease affecting a transitioning population. This is a retrospective review of the current status of a complex and rapidly evolving field of delivery of care. More work is needed to apply uniform approaches and assess the impact, patient outcomes, and quality of life. Patients who undergo childhood procedures for anorectal malformations often experience chronic symptoms related to the bowel, bladder, and reproductive organs, as well as psychosocial disturbances. This population will benefit from appropriate engagement in transitional care plans. See Video Abstract at http://links.lww.com/DCR/A543.

Parent activation in the pediatric emergency department: Theory vs. reality

ObjectiveTo measure parent activation and test for its associations with sociodemographics, clinical factors, and short-term outcomes. MethodsBy convenience sampling, 246 parents of children treated in an emergency department (ED) of a children’s hospital completed the Parent-Patient Activation Measure (P-PAM) and answered sociodemographic questions. Clinical information was abstracted from medical records. Phone calls to parents and primary care physician offices were conducted within one-month post-ED visit for information about short-term outcomes. ResultsWe discovered higher than expected activation among our sample (mean = 73), higher activation scores by Spanish language and child chronic illness status, and associations between activation scores and ED visit and discharge instruction comprehension and filling prescriptions (short-term outcomes). However, the theory of parent activation did not adequately fit the data. ConclusionBefore the P-PAM in pediatric clinical care becomes widespread, further research is necessary to better understand parent activation and its associations with pediatric outcomes. Practice implicationsAlthough the PAM has shown promise in accurately measuring patient activation across various populations and disease processes, the same is not yet true of the P-PAM. To date, pediatric studies using the P-PAM have called its psychometric properties into question. Further research is needed to understand and measure parent activation.

Fighting Fatty Liver Diseases with Nutritional Interventions, Probiotics, Symbiotics, and Fecal Microbiota Transplantation (FMT).

Pediatric obesity is rising worldwide leading the worrying phenomenon of nonalcoholic fatty liver disease (NAFLD) to shift into one of the most frequent causes of chronic liver illness in childhood. Occurrence of NAFLD depends on several factors such as the geographical area and the diagnostic modalities used; overall it ranges between 3% and 10% of pediatric population, increasing up to 70% in patients with metabolic comorbidities (Manco M, Bottazzo G, DeVito R et al, J Am Coll Nutr 27:667-676, 2008).Recent findings have related the intestinal microbiota to a plethora of pathological conditions, including type 2 diabetes (T2D), obesity, and nonalcoholic steatohepatitis (NASH). One of the emerging areas of the study is the link between liver diseases and gut microbiome, which has added new information to the understanding of the so-called gut-liver axis.In order to address the role of gut microbiome in NAFLD onset and progression, it is necessary to "decipher" operational codes for microbiome investigation within the context of advanced laboratory medicine to capture microbiome features and, hence, to address the function of the intestinal microbiome within the gut microbiota-liver axis.Results of these investigations have allowed the beginning of implementing the usage of probiotics and symbiotics in the medical approach of obesity and NAFLD in adults and children. Several randomized clinical trials (RCTs) have been already published on fecal microbiota transplantation (FMT), T2D, NASH, and inflammatory bowel disease (IBD).This review proposes to describe the current state of knowledge on the ways fatty liver diseases can be addressed with nutritional interventions, probiotics, symbiotics, and FMT.

Impact of birth characteristics, breast feeding and vital statistics on the eruption of primary teeth among healthy infants in Saudi Arabia: an observational study

ObjectivesThis study aimed to explore the impact of gender, birth weight, maternal age, type of delivery, gestational age and feeding practices on the eruption of teeth in children with no...

The Need for Psychosocial Support in Parents of Chronically Ill Children

The Need for Psychosocial Support in Parents of Chronically Ill Children Chronic illness in childhood and adolescence is associated with special requirements and demands on affected families. In particular, severe chronic diseases and rare diseases with a high level of health care needs or with progressive medical diagnoses permanently challenge the families' resources. The aim of this study was to assess the need for psychological, nursing, legal and organisational support from a parent's perspective. Using qualitative content analysis according to Mayring, data from 96 parents of 68 chronically ill children were evaluated. The findings suggest an increased need for psychosocial support, but, the ideas, needs, and goals of parents are very versatile. However, family-based psychosocial support programs, which are adapted to the specific family situations, are unanimously judged to be useful. Interventions should be flexible as well as tailored to the affected families' individual needs.

Communication and the Appraisal of Uncertainty: Exploring Parents’ Communication with Credible Authorities in the Context of Chronic Childhood Illness

ABSTRACTIndividuals with chronic illnesses must manage long-term uncertainty as they cope with the ways the illness influences their lives. In the context of pediatric illnesses, parents must manage uncertainty during the diagnosis and treatment of their child’s illness. It is common for children with complex chronic illnesses to see multiple specialists for the treatment of their condition. While previous research has explored parents’ uncertainty during a child’s diagnosis and during end-of-life care, less is known about these experiences when the child is referred to a team of specialists for treatment. The aim of the current study was to explore how specialists, as credible authorities, influence parents’ uncertainty during parents’ first visit to a multidisciplinary clinic for the care of their child’s complex chronic illness. Data were collected through semi-structured interviews with 29 parents after their child’s first visit to a vascular anomaly clinic at a large Midwestern children’s hospital. The results suggest parents’ communication with credible authorities facilitates effective uncertainty management primarily through the mechanism of uncertainty reappraisal. The results also suggest that specialists, as credible authorities, are a key mechanism in the appraisal of uncertainty for conditions that are often misdiagnosed and mismanaged.

A cross sectional study on the prevalence of structural congenital anomalies among neonates delivered in a tertiary care hospital, Chennai from January 2016 to February 2017

Background: Congenital anomalies are important contributors to infant and childhood deaths, chronic illness and disability. The pattern and type of anomaly varies regionally. The planning and the implementation of public health programs for congenital anomalies are dependent on the prevalence data. Adequate data is unavailable in our country. The objective of this study was to study the prevalence of congenital anomalies and the factors influencing them, in Government RSRM lying in hospital, Chennai from January 2016 to February 2017.Methods: This is a cross-sectional study conducted in Government RSRM lying-in hospital, a tertiary care neonatal unit, from January 2016 to February 2017. The case records of neonates delivered during the study period were studied to identify those with congenital anomalies. The factors possibly influencing congenital anomalies were studied.Results: The number of case records analyzed was 11242, out of which 157 neonates were reported to have structural congenital anomalies; the prevalence was 1.4%. Congenital heart disease formed the majority, 46.5% (73/157) of congenital anomalies identified. The most common extra-cardiac congenital anomalies noted were cleft lip/cleft palate (15/157) 9.6%, followed by single umbilical artery which was noted in 5.7% (9/157). Down’s syndrome was seen in 3.8% (6/157) and neural tube defects in 3.2% (5/157) of the babies with congenital anomalies.Conclusions: The prevalence of commonly occurring congenital anomalies in the study hospital was comparable to the prevalence in other similar studies in India. The prevalence of neural tube defects was lower in our area compared to other countries whereas, that of acyanotic heart diseases were higher than in other studies.

O-12 The influence of patient covariates on insulin dose-requirements in children newly diagnosed with type 1 diabetes mellitus

Background Type 1 diabetes mellitus (T1DM) is a com-mon chronic illness of childhood. Insulin is the mainstay of therapy and in order to maintain glycaemic control, the dose is adjusted frequently based on the patient’s blood glucose until a stable dose is achieved. Guideline recommendations in regard to the initial total daily dose of insulin (TDD) at new onset of disease vary two-fold (0.5 to 1.0 IU/kg/day). The aim of the study was to identify the influence of patient covariates on the dose-requirement of insulin in newly diagnosed children and adolescents with T1DM. Methods A retrospective chart review of children admit-ted to hospital over a five-year period due to new onset T1DM was undertaken. Demographic, clinical, insulin dosing, and laboratory data were recorded. The influence of patient characteristics on insulin TDD was analysed sta-tistically by performing univariate and multivariate linear regression analyses. Results Clinical and insulin administration records for 70 patients were available for analysis. The median age of subjects was 9 years and median duration of admis-sion was 6 days. The median insulin TDD on first day of admission was 21 units (0.7 U/kg) and that of the day be-fore discharge was 27 units (1 U/kg). In the multivariate regression analysis, body size (total body weight and fat-free mass), HbA1C, and blood ketone concentration were found to be significant predictors for the target TDD (p Conclusion In addition to body weight, HbA1c and ke-tone concentrations may be helpful in calculating initial TDD in newly diagnosed children with T1DM. This will potentially decrease the number of days needed to reach a stable dose and result in improved early glycaemic control. These findings may be used to study a larger cohort of patients in order to quantify the influence of these co-variates on dose-requirements.

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OBJECTIVES/SPECIFIC AIMS: (1) To propose an iterative decision-making model of care planning for CSHCN. (2) To identify targets warranting measurement in future studies of SDM in care planning for CSHCN. METHODS/STUDY POPULATION: Conceptual model developed by a multidisciplinary team iteratively considering the complex relationships among diverse factors affecting care planning for CSHCN, informed by clinical and implementation science experience and a scoping literature review of medical and cognitive sciences literature addressing interpersonal decision-making, communication, negotiation, and trust among children, their parents, and their clinicians. RESULTS/ANTICIPATED RESULTS: Decision-making interventions in pediatrics tend to focus narrowly on single acute decisions, providing minimal guidance for decisions related to chronic disease management over time. Few models account for the role of the child in the decision-making process, despite their ongoing development. Therefore, we propose a model of shared decision-making in the context of managing chronic illness in children that recognizes all actors and can support both the design of clinical care and research. This model—The SDM Learning Loop Model—highlights the dynamic iterative nature of exchanges between and among the clinical team and the parent-child dyad and recognizes the child as the center of each decision-making cycle. The model accounts for key practice, family, experiential, and emotional contexts influencing the decision-making encounter. In this model, change in child health status and developmental capacity resulting from a given cycle’s care plan will directly influence the relationship between clinician and parent-child dyad (eg, mutual trust, attunement) and impact each party’s engagement in the next round of decision-making. The relationship between experience and outcome stimulates learning. DISCUSSION/SIGNIFICANCE OF IMPACT: Our proposed SDM Learning Loop Model suggests that increasing the shared nature of decision making is not only likely to optimize care planning, but creates “buy-in” that can both reinforce the impact of positive outcomes, and moderate the negative impact on relationships when the outcome is other than desired. We hypothesize that this model can guide care planning and shape research to the benefit of both clinical outcomes and clinician-family relationships. Future work should focus on the development and validation of measures to account for the experiential and emotional contexts in which such decisions are made, and the outcomes of care in this population.

Osteoporosis in Children with Chronic Illnesses: Diagnosis, Monitoring, and Treatment.

Osteoporosis is an under-recognized complication of chronic illness in childhood. This review will summarize recent literature addressing the risk factors, evaluation, and treatment for early bone fragility. Criteria for the diagnosis of pediatric osteoporosis include the presence of low trauma vertebral fractures alone or the combination of low bone mineral density and several long bone fractures. Monitoring for bone health may include screening for vertebral fractures that are common but often asymptomatic. Pharmacologic agents should be offered to those with fragility fractures especially when spontaneous recovery is unlikely. Controversies persist about the optimal bisphosphonate agent, dose, and duration. Newer osteoporosis drugs have not yet been adequately tested in pediatrics, though clinical trials are underway. The prevalence of osteoporosis is increased in children with chronic illness. To reduce the frequency of fragility fractures requires increased attention to risk factors, early intervention, and additional research to optimize therapy and potentially prevent their occurrence.

Smart system for children's chronic illness monitoring

Sick children need a continuous monitoring, but this involves high costs for the government and for the parents. The use of information and communication technologies (ICT) jointly with artificial intelligence and smart devices can reduce these costs, help the children and assist their parents. This paper presents a smart architecture for children's chronic illness monitoring that will let the caregivers (parents, teachers and doctors) to remotely monitor the health of the children based on the sensors embedded in the smartphones and smart wearable devices. The proposed architecture includes a smart algorithm developed to intelligently detect if a parameter has exceeded a threshold, thus it may imply an emergency or not. To check the correct operation of this system, we have developed a small wearable device that is able to measure the heart rate and the body temperature. We have designed a secure mechanism to stablish a Bluetooth connection with the smartphone. In addition, the system is able to perform the data fusion in both the information packetizing process, which contributes to improve the protocol performance, and in the measured values combination, where it is used a stochastic approach. As a result, our system can fusion data from different sensors in real-time and detect automatically strange situations for sending a warning to the caregivers. Finally, the consumed bandwidth and battery autonomy of the developed device have been measured.

Traffic-Related Air Pollution and the Local Chronic Burden of Childhood Asthma in Bradford, UK

Background It is important to move beyond traditional Health Impact Assessment (HIA) focused on mortality, by including morbidity outcomes that pose a significant burden on healthcare systems and quality of life. Childhood asthma, the most common chronic illness in children, is one such outcome with 1 in 11 children in the UK suffering from this condition. Air pollution, particularly traffic-related air pollution, is thought to contribute to the childhood asthma burden. We aimed to estimate the burden of childhood asthma (from birth-18 years old) attributable to traffic-related air pollution in Bradford, UK, by calculating the number of asthma cases attributable to traffic-related Nitrogen Oxides (NO x ), Nitrogen Dioxide (NO 2 ), Particulate Matter 2.5 and 10 and Black Carbon. We further explored whether differences in the exposure assessment methods translate into differences in the estimated health burden. Methods We estimated the childhood population exposure to traffic-related NOx and NO 2 at the super output area level in Bradford using two full-chain models linking transport, emissions and air quality models. These were namely 1) a dispersion model with standard vehicle emission factors; 2) a dispersion model with novel vehicle emission factor developed in previous work (Khreis, 2016). A Land-Use Regression (LUR) model developed in previous work as part of the ESCAPE consortium (Beelen et al., 2013) was also used to estimate exposure. We extracted the incidence rate for childhood asthma and the exposure-response functions from previous published surveys and meta-analyses (Punekar and Sheikh 2009; Khreis et al., 2017). We calculated the relative risk and population attributable fraction of childhood asthma due to estimated air pollutant levels. We estimated the number of asthma cases attributable to these exposure levels in each output area in Bradford and summed the results across all output areas. Results To our knowledge, this study represents one of the very few studies undertaking full-chain burden of disease assessment that considers the full-chain from exposure source (e.g. vehicle emissions), through pathways (e.g. air pollution levels and exposure assignment) to health outcomes (e.g. childhood asthma). It also adds to the scarce literature exploring uncertainties associated with methodological issues related to the exposure assessments. The attributable cases of asthma as estimated using LUR exposures were 433 due to NO2, 685 due to NOx, 485 due to PM2.5, 608 due to PM10 and 276 due to Black Carbon. The remainder of the analysis is ongoing.

Improving the quality of transition and transfer of care in young adults with congenital heart disease.

The transition and transfer from pediatric to adult care is becoming increasingly important as improvements in the diagnosis and management of congenital heart disease allow patients to live longer. Transition is a complex and continuous process that requires careful planning. Inadequate transition has adverse effects on patients, their families and healthcare delivery systems. Currently, significant gaps exist in patient care as adolescents transfer to adult care and there are little data to drive the informed management of transition and transfer of care in adolescent congenital heart disease patients. Appropriate congenital heart disease care has been shown to decrease mortality in the adult population. This paper reviews the transition and transfer of care processes and outlines current congenital heart disease specific guidelines in the United States and compares these recommendations to Canadian and European guidelines. It then reviews perceived and real barriers to successful transition and identifies predictors of success during transfer to adult congenital heart disease care. Lastly, it explores how disease-specific markers of outcomes and quality indicators are being utilized to guide transition and transfer of care in other chronic childhood illnesses, and identifies existing knowledge gaps and structural impediments to improving the management of transition and transfer among congenital heart disease patients.

Research Review: Childhood chronic physical illness and adult emotional health - a systematic review and meta-analysis.

Childhood chronic physical illness is associated with a greater vulnerability for emotional problems (i.e. depression and anxiety) in childhood. However, little is known about life-long effects of childhood chronic physical illness on mental health. The present study aims to systematically review evidence for associations between eight chronic physical illnesses with childhood onset (arthritis, asthma, cancer, chronic renal failure, congenital heart disease, cystic fibrosis, type 1 diabetes, and epilepsy) and adult emotional problems. A database search of MEDLINE, PsycARTICLES, PsycINFO, and ScienceDirect was undertaken, and random effects meta-analyses were used to synthesise evidence from eligible studies. In total, 37 studies were eligible for the systematic review (n=45,733) and of these, 34 studies were included in the meta-analyses (n=45,358). There were overall associations between childhood chronic physical illness and adult depression (OR=1.31; 95% CI [1.12, 1.54]) and anxiety (OR=1.47; 95% CI [1.13, 1.92]). Separate meta-analyses for childhood asthma, type 1 diabetes and cancer were also conducted, with cancerbeing significantly associated with adult depression (OR=1.19; 95% CI [1.00, 1.42]). The effects of childhood chronic physical illness on the risk of emotional problems persist beyond childhood and adolescence. Mental health prevention and intervention strategies targeting children with chronic physical illnesses can have long-term benefits.

Randomized controlled trial of Triple P for parents of children with asthma or eczema: Effects on parenting and child behavior.

Parents play an important role in children's illness management, in promoting child adjustment and reducing behavior problems. Little research has focused on the evaluation of parenting interventions in the context of childhood chronic illness. The aim of this study was to test the efficacy of a brief, group parenting intervention (Healthy Living Triple P) in improving parenting skills and parent adjustment, and reducing child behavioral and emotional difficulties in the context of childhood asthma and eczema. One hundred seven parents of children with a diagnosis of asthma and/or eczema were randomly assigned to intervention (n = 52) or care as usual (CAU; n = 55). Parents completed self-report measures of their child's behavioral and emotional adjustment, their own parenting, and their own level of adjustment at pre- and postintervention and at 6-month follow-up. Parent-child interactions were observed and coded at each time point. The intervention consisted of 2 group sessions of 2 hr each delivered by trained, accredited practitioners. Attrition was low, with T2 and T3 assessment completed by 84.6% and 80.8% of intervention families and 92.7% and 81.8% of CAU families, respectively. Intention-to-treat analyses indicated that overall parent-reported ineffective parenting as well as parental overreactivity reduced as a result of intervention. Parent report of child behavior problems also decreased, but there were no changes in children's emotional adjustment. No changes in observed parent or child behavior were found. Stress reduced for parents in the intervention group compared to the CAU group, but there were no changes in parental anxiety or depression. Effects showed evidence of reliable and clinical change and were maintained at 6-month follow-up. The intervention shows promise as an addition to clinical services for children with asthma and eczema and may have broader application to other chronic health conditions. (PsycINFO Database Record

Predicting parent health-related quality of life: evaluating conceptual models.

Parents of children with chronic illnesses are at risk for poor health-related quality of life (HRQoL), with numerous identified risk factors, but the most informative statistical model considering their combined impact is unclear. The authors conceptualized risk for poor HRQoL using a summed model, comprehensive multivariate model, and latent profile analysis (LPA). Community parents completed an online survey, providing information about demographics, child's chronic illness, family functioning, and parent and child HRQoL. Parents reported that their children had a variety of chronic conditions (e.g., asthma, headaches, attention deficit/hyperactivity disorder, neurofibromatosis). The summed model did not account for a significant proportion of variance in parent HRQoL. The comprehensive multivariate model (R 2 = 0.614) and LPA (R 2 = 0.305) both significantly predicted parent HRQoL. The LPA identified two risk profiles for lower HRQoL: parents who reported milder illnesses, but poorer family functioning; and parents who reported greater disease severity, but better family functioning. Comprehensive multivariate models or LPAs best conceptualize patterns of risk for poor parental HRQoL in the community; though the findings in the current community sample may not extend to parents recruited from specialty clinics whose children may have more severe chronic illnesses. Parents of children with mild chronic conditions are still at risk for poor HRQoL, warranting attention from health care providers.

Stress and Posttraumatic Stress in Mothers of Children With Type 1 Diabetes.

The onset of acute and chronic illness in children frequently triggers episodes of stress and posttraumatic stress symptoms (PTSS) in mothers. Mothers of children with type 1 diabetes (T1D) consistently report high levels of stress and PTSS. The purpose of this integrative review was to review and synthesize the published empirical research. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were used to conduct this integrative literature review. A total of 19 studies were identified from a sample of 128. Stress and PTSS were prevalent in mothers of youth with T1D. While PTSS was most severe at disease onset, symptoms often persisted 1 to 5 years after diagnosis. The diagnosis of T1D in a child was traumatic for mothers. Stress and PTSS in mothers adversely affected children's health. Management of stress symptoms in mothers may lead to improved behavioral and metabolic outcomes in children.

Psychosocial implications of disorders of sex development treatment for parents

Historically, studies of caregivers of children with disorders of sex development (DSD) have been limited. Recent data reveal that parents of young children with DSD report increased stress, anxiety, depression, and decreased quality of life in ways that are similar to parents of children with other types of chronic illnesses. Also similar to other chronic illnesses of childhood, parents of children with DSD exhibit overprotective parenting and perceive their child as being vulnerable. These emotions and behaviors exhibited by parents are concerning as they may limit an affected child's emotional and social development over time. Perhaps, more unique to the situation of DSD is the perceived, or real, child-focused stigma experienced by parents of children with DSD. Interventions to improve parents' psychosocial adaptation to their child's medical condition, including coaching in how to discuss their child's condition in a manner that makes them feel safe and supported, are needed to optimize outcomes for families.

Anti-diabetic medications: How to make a choice?

Diabetes is the third commonest chronic illness in children following asthma and epilepsy. More recently the overall prevalence of diabetes in children and adults continued to increase dramatically. In children, this has partially been contributed to by the pandemic of obesity. Understandably, this posed an economic burden on health authorities and countries dealing with significant morbidity of the disease with potentially serious complications. In parallel to this, more therapeutic discoveries expanded the list of choice for available medications. We hypothesize that specialist clinicians are requested by an authority to submit a report of prioritization for anti-diabetic drugs. The authority new policy is to purchase for only three of anti-diabetic medications among a long list of old and new drugs. We gave a recommendation here in response to this request based on different properties of these medications and also based on the largest known clinical trials in the field. Some may have a different choice for a third medication besides insulin and metformin and physicians in many clinical settings may have a choice of more than three at a time. However, we, at least, provide here a thorough review of these drugs, their mechanistic of action, benefits and side effects to facilitate a better choice for individual patients according to underlying pathophysiological cause, other medical needs and tolerance to different medications. Paediatricians are increasingly managing adolescents with type 2 diabetes these days. Hence, we wrote this review as a quick reference guide to anti-diabetic medications to which they might be less familiar.

Spectrum of Congenital Anomalies among Surgical Patients at a Tertiary Care Centre over 4 Years

Introduction. Congenital anomalies are important causes of childhood death, chronic illness, and disability in many countries. Congenital malformations are rapidly emerging as one of the major worldwide problems. Aim. To study the percentage of various congenital anomalies among the patients admitted in Department of Pediatric Surgery at a tertiary care centre over a period of four years from 2011 to 2015 in our centre. Results. Neural tube defects were found to be the most common anomalies in 24.3% of the children admitted. Other common anomalies were anorectal malformation (20.7%), tracheoesophageal fistula (20%), and intestinal obstruction (14.84%). Majority (60.5%) of the patients were males. Conclusion. Congenital malformations are rapidly emerging as one of the major worldwide problems as they can result in long-term disability, which may have significant impacts on individuals, families, health-care systems, and societies. Regular antenatal visits and prenatal diagnosis are recommended for prevention, early intervention, and even planned termination, when needed.