Diagnosis Of Down Syndrome Research Articles

Delivering a new diagnosis of Down syndrome: Parent experience.

Down syndrome is one of the most common chromosomal abnormalities. In 2014, in conjunction with the passing of House Bill 552, the Ohio Department of Health released a Down syndrome fact sheet to be given to parents at time of diagnosis to answer basic questions regarding the diagnosis. Our survey helps us to understand parental experience in receiving a new Down syndrome diagnosis including information provided. An electronic survey was created and distributed to members of established Down syndrome parent groups in Ohio. Questions assessed the parental experience at the time of receiving a Down syndrome. We also looked at parent perceptions after the implementation of a Down syndrome fact sheet. Responses were collected regarding experience at the time of diagnosis and broadly categorized into a trichotomy of positive experience (>5), neutral experience (=5), and negative experience (<5). Parents report an overall negative experience when receiving a new diagnosis of Down syndrome (mean of 4 on scale of 0-10), which did not increase after 2014 (p >0.05). Eighty-five percent of parents with children born in 2014 or after report that they did not receive the Ohio Department of Health Down syndrome fact sheet. Legislation regarding a diagnosis of Down syndrome exists in 20 states with significant variability, readability of those fact sheets. Legislation requiring accurate information be given to families was not always followed, and printed literature alone did not correlate with improved parent experience; additional efforts are necessary to ensure that the experience receiving a diagnosis of Down syndrome is not a negative one.

Facial analysis technology for the detection of Down syndrome in the Democratic Republic of the Congo

Down syndrome is one of the most common chromosomal anomalies affecting the world's population, with an estimated frequency of 1 in 700 live births. Despite its relatively high prevalence, diagnostic rates based on clinical features have remained under 70% for most of the developed world and even lower in countries with limited resources. While genetic and cytogenetic confirmation greatly increases the diagnostic rate, such resources are often non-existent in many low- and middle-income countries, particularly in Sub-Saharan Africa. To address the needs of countries with limited resources, the implementation of mobile, user-friendly and affordable technologies that aid in diagnosis would greatly increase the odds of success for a child born with a genetic condition. Given that the Democratic Republic of the Congo is estimated to have one of the highest rates of birth defects in the world, our team sought to determine if smartphone-based facial analysis technology could accurately detect Down syndrome in individuals of Congolese descent. Prior to technology training, we confirmed the presence of trisomy 21 using low-cost genomic applications that do not need advanced expertise to utilize and are available in many low-resourced countries. Our software technology trained on 132 Congolese subjects had a significantly improved performance (91.67% accuracy, 95.45% sensitivity, 87.88% specificity) when compared to previous technology trained on individuals who are not of Congolese origin (p < 5%). In addition, we provide the list of most discriminative facial features of Down syndrome and their ranges in the Congolese population. Collectively, our technology provides low-cost and accurate diagnosis of Down syndrome in the local population.

Amniotic fluid and urine metabolomic alterations associated with pregnant women with Down syndrome fetuses

Background Down syndrome (DS) is a chromosomal disorder caused by a third copy of all or part of chromosome 21. Clinical observations and preclinical studies both suggest that DS may be associated with significant metabolic and bioenergetic alterations. But the metabolic alterations in pregnant women carrying DS fetuses still remains unclear. In this study, we investigated the characteristic metabolomics and lipidomics changes during fetal development of DS. Methods The AF and random urine specimens were selected from 20 pregnant women carrying DS fetuses and 20 pregnant women carrying healthy fetuses. The diagnosis of DS was screened according to chromosome karyotype analysis, and untargeted metabolomic and lipidomic analyses were performed. Results Through the analyses of AF, 308 differential metabolites were selected between DS and controls. The metabolites with significant changes mainly involved lipid molecules, organic acids, nucleotides and carbon. Further analysis of lipidomics showed 64 differential metabolites, mainly involving glycerides, sphingolipids and glycerolipids. As for urine metabolomic and lipidomic analyses, there existed consistent metabolites with AF, but the number was much less. Conclusions Compared with the controls, carbon metabolism, amino acid metabolism, glyceride metabolism, sphingolipid metabolism and glycerophospholipid metabolism were significantly changed in DS cases. In addition, characterized biomarkers in AF and urine were screened for DS diagnosis, and these metabolites were mainly involved in energy metabolism and liver dysfunction. This finding may help improve the efficiency of prenatal screening for DS.

Do non-invasive prenatal tests promote discrimination against people with Down syndrome? What should be done?

By implementation of non-invasive prenatal testing (NIPT) for the diagnosis of Down syndrome (DS) in maternity care, an ethical debate is newly inflamed how to deal with this information. Fears of the consequences of an increased use of NIPT are justified with the same arguments when amniocentesis and preimplantation genetic diagnosis (PGD) were introduced decades ago. It can be expected that the prevalence of people with DS would significantly increase in Western societies as a result of the increasing age of pregnant women and the improved medical care for people with DS. The net effect as to whether an increasing uptake of NIPT will result in more abortions of fetuses with trisomy 21 cannot be reliably estimated. This holds true since more and more couples will use results of NIPT for information only, but will not opt for termination of pregnancy. Although parents love their children with DS, in a society where reproductive autonomy is seen as an achievement, access to NIPT cannot be limited. On this background, comprehensive and qualified pretest counseling is vital, also to avoid possible stigmatization of people with DS and as the resulting consequence to avoid feared deterioration in their living conditions, for which, however, there is no evidence to date. The personal view of a mother of a child with DS illustrates the complexity in dealing with NIPT, which does not allow simple answers and must be understood as a challenge for society as a whole.

Comparison of Attention-Deficit Hyperactivity Disorder in Typically Developing Children and Children with Down Syndrome.

This study aimed to evaluate attention-deficit hyperactivity disorder (ADHD) symptom patterns among children with Down syndrome (DS) with or without ADHD and typically developing (TD) children with ADHD. Parents and teachers rated symptoms of inattention, hyperactivity, and general behavioral concerns for 22 children with DS and comorbid diagnoses of ADHD (DS + ADHD), 66 gender-matched and age-matched children with DS with no diagnosis of ADHD (DS - ADHD), and 66 gender-matched and age-matched TD children with ADHD (TD + ADHD). Children with DS were recruited from the community. TD children with ADHD were recruited from a specialty clinic evaluating for ADHD. Parents tended to report higher scores of inattention and hyperactivity for TD children with ADHD compared with children with DS and no ADHD. Although mean ADHD symptom summary scores were not significantly different in DS + ADHD and DS - ADHD, specific parent-report items (e.g., distractibility and being "on the go") did tend to differentiate these groups. By contrast, teachers tended to report higher inattention and hyperactivity scores for DS + ADHD compared with both DS - ADHD and TD + ADHD. Specific teacher-reported items tending to differentiate DS + ADHD and DS - ADHD included difficulties following through on tasks, avoiding tasks, leaving one's seat, and excessive talking. Variability in response patterns between parent and teacher reports for children with and without DS highlights the need to evaluate ADHD symptoms across environments. Our findings also suggest specific items that may particularly be helpful in distinguishing children with DS who do and do not have ADHD, although replication is needed.

The kariotype variability in children with Down syndrome from the Odesa region

The aim of the work is to analyze the frequency of cytogenetic variants of Down syndrome among patients in Odesa and the region, as well as to identify combined karyotype anomalies. Materials and methods. Studies were conducted between 2013–2018 years in Odesa Specialized Medical Genetic Center. The experimental group was formed of patients with cytogenetically confirmed Down syndrome. Chromosomes were painted according to GTG method and identified according to ISCN 2013. Results. Among patients with Down syndrome, in 93.9 % of cases complete trisomy 21 was observed, the translocation form was in 3.7 %, and the mosaic form was in 2.4 %. Similar results were revealed in the analysis of populations belonging to different ethnic and racial groups. Complete trisomy 21 was accompanied by chromosome rearrangements of other chromosomes or additional modifications of chromosome 21. Changes in the heterochromatin in chromosome 9 were more frequently observed. In total, 5.5 % of examined karyotypes were found with additional heterochromatin in both arms of chromosome 1 and in the long arm of chromosome 21. An increase in the size of satellites in chromosomes 14, 15 and more often 21, as well as the appearance of additional satellites in chromosome 2 represented 3.6 % of the total examined karyotypes. A deletion on chromosome 6 involved in translocation with chromosome 13 also was found. Translocation forms included Robertsonian translocations involving chromosomes 21 and 21, 14 and 21, as well as translocations involving chromosomes 21 and 21, 21 and 22. Patients with a mosaic form of the disease had two cell lines: with a normal karyotype 3 (15–67 % of the studied cells) and with complete trisomy 21 without additional chromosomal abnormalities (33–85 % of the studied cells). Conclusions. Among patients with cytogenetically confirmed diagnosis of Down syndrome, the ratio of the main variants was similar to many populations studied. At the same time, additional changes in the karyotype were identified which can either be a variant of the norm or aggravate the course of the disease. This requires further studies of the disease course in such patients.

Care Coordination for Children with Special Healthcare Needs Anticipating Transition: A Program Evaluation

PurposeNearly 20% of U.S. children have special healthcare needs (CSHCN). Difficulties experienced with navigating the array of services for these children has highlighted the value of care coordination to improve care, reduce costs and increase satisfaction. This study evaluated the services delivered within a care coordination program at a transition consultation center for CSHCN. It also compared the advancement of youth by age group toward graduation criteria. Design and methodsUsing a program evaluation method, data were collected via a retrospective chart review. The convenience sample included clinical records from 100 patients aged 11–22 who had a chronic disease or disability. ResultsThe comparison of services for those with diagnoses of autism spectrum disorder, cerebral palsy and Down syndrome were uniformly high in supporting primary care and health care financing. Medicaid waiver assistance was provided more frequently to younger adolescents while older adolescents more commonly received support in all other graduation criteria, including primary and specialty care, healthcare financing and decision-making supports. ConclusionsYouth served in a transition care coordination program receive a high volume and broad array of services. There are some variations in the types of services by diagnosis and level of support need. Older youth show greater advancement toward graduation criteria. Practice implicationsThis in-depth chart review provides a valuable description of the activities of care coordinators serving CSHCN enduring transition. It enables development of targeted strategies for building care coordination programming and sets an example for the design of future research studies on this topic.

Exploring Expressive Communication Skills in a Cross-Sectional Sample of Individuals With a Dual Diagnosis of Autism Spectrum Disorder and Down Syndrome.

Individuals with a comorbid diagnosis of Down syndrome (DS) and autism spectrum disorder (ASD) have been found to exhibit greater deficits in expressive communication than individuals with DS only. We hypothesized that individuals with a comorbid diagnosis (n = 430) would have significantly lower Communication Matrix scores and specifically social communication scores than individuals with DS alone (n = 4,352). In a sample of 4,782 individuals with DS, scores for individuals with a comorbid diagnosis were on average 18.01 points and 7.26 points lower for total score and social score respectively as compared to individuals with DS. Comorbid diagnosis accounted for 10.5% of the variance in communication scores. Between-group differences in referential gestures and symbolic communication behaviors were also observed.

GAMBARAN PROSES PENERIMAAN DIRI IBU DENGAN ANAK DOWN SINDROME

Parents put their hopes in their children who will be born. When a child is born with conditions that are not as expected, this causes an emotional reaction in parents, especially the mother as the main caregiver for children and people who give birth to children in the world. The existence of a diagnosis of Down syndrome in children, mothers feel lost hope and their role will change. According to Fidler, Down syndrome is known as a form of chromosomal abnormality that causes developmental delays, mild to severe mental retardation and physical abnormalities. Finally, the mother faces the terrible reality that her child has special needs. This is a situation that is difficult for mothers to accept and needs to go through a process to be able to achieve self-acceptance. If the mother accepts herself with the condition of having a Down syndrome child, it can help the child to grow and develop properly. Therefore, researchers want to know the process of self-acceptance of mothers with children with Down syndrome.&#x0D; This research uses a qualitative approach and data collection is carried out using the interview method. Participants in this study were 3 mothers who had children with Down syndrome at the age of 30-45 years. Through interviews, researchers explore the expectations of parents about children, events during pregnancy, childbirth and raising children. In addition, researchers also dig data about the process experienced by mothers to achieve self-acceptance. The analysis conducted on each participant was carried out with the thematic analysis method.&#x0D; The results showed that the three participants had a process of self-acceptance in accordance with the phase initiated by Duncan and Moses, but there were several different stages. It takes many years for mothers to be able to complete the emotional stages and feelings that emerge can overlap. When the mother has reached self-acceptance, it is still possible to experience a setback to the previous phase. Factors that influence, among others, hope, ignorance of Down syndrome, the economy and support from the surrounding environment.

“I had to think: This is not a child.” A qualitative exploration of how women/couples articulate their relation to the fetus/child following termination of a wanted pregnancy due to Down syndrome

ObjectiveTermination of a wanted pregnancy due to fetal anomaly may generate complex feelings of grief and loss. The aim of this study was to explore the different ways that women/couples articulated their relation to the fetus/child following a termination of pregnancy due to a prenatal diagnosis of Down syndrome. MethodQualitative interview study with 21 women/couples who had recently terminated a wanted pregnancy. Data were analyzed using thematic analysis. ResultsThe analysis identified how some women detached themselves from the fetus/child following the diagnosis by mentally separating from the fetus/child, by acting as if they were not pregnant (e.g., by drinking wine), or by deliberately using the term ‘fetus’ to designate the fetus/child as a biological entity. The analysis also identified accounts of attachment such as singing a lullaby to the fetus/child or using the term ‘our child’ or ‘my baby’. However, accounts of detachment and attachment often intermingled and changed over time. Following the termination, many women/couples felt ambiguous about the sonogram as a symbol of the potential child. Overall, the analysis showed that the relation to and the meaning of the fetus/child was ambiguous and open to reinterpretation. ConclusionThe main contribution of this study is the identification of how articulations of attachment and detachment are not mutually exclusive but coexist and may change over time. Furthermore, we argue that detachment does not equal indifference. Thus, healthcare professionals must support the couple in finding a terminology and a narrative that are meaningful for them.

Diagnosis and patterns of hearing loss in children with severe developmental delay

Introduction & objectiveChildren with cognitive delay often experience challenges with obtaining hearing thresholds through behavioral audiometry (BA). This necessitates sedated Auditory Brainstem Response (sABR) testing. This study aimed to evaluate diagnostic and hearing patterns in children with Down Syndrome (DS), Autism Spectrum Disorder (ASD), Global Developmental delay (GDD), and Cerebral Palsy (CP) who were unable to complete reliable BA testing due to severe cognitive delay. MethodsRetrospective chart review on a cohort of children aged 0.5–18 years with a diagnosis of DS, ASD, GDD, or CP who underwent sABR due to unsuccessful BA testing. This was performed at a tertiary care institution from 2014 to 2019. Testing patterns and audiometric data were collected. ResultsAcross 15 DS, 39 ASD, 10 GDD, and 11 CP patients, the average time from first nondiagnostic BA to sABR ranged from 8.6 months (in GDD) to 21.8 months (in DS). The average number of BAs performed before sABR ranged from 1.6 (in ASD and GDD) to 2.7 (in DS). Hearing loss (HL) was diagnosed in 10%, 13%, 36% and 46% of patients with GDD, ASD, CP and DS respectively. Up to 75% of the HL was sensorineural (in CP patients). ConclusionIn children with significant cognitive delays, a high incidence of HL (especially SNHL) was identified, therefore high suspicion for HL should be held in these patients. Multiple unsuccessful BAs contribute to prolonged time to diagnosis and treatment, thus prompt sABR should be performed in patients whose severe cognitive delay inhibits reliable testing with BA.

Application of Multiple Short Tandem Repeat Loci for Rapid Diagnosis of Down Syndrome and Edward Syndrome.

Chromosomal diseases with chromosomal abnormalities are one of the most common genetic diseases in humans, including abnormal numbers and structural abnormalities. Patau syndrome (also known as trisomy 13), Edward syndrome (also called trisomy 18), and Down syndrome (also known as trisomy 21) are all clinically fatal diseases caused by abnormal numbers of autosomes. However, there is no reliable and effective cure for chromosomal diseases, mainly relying on fast and accurate prenatal diagnosis technology to reduce the rate of birth defects. Fluorescent-labeled primers were designed and then used in fluorescence quantitative polymerase chain reaction (FQ-PCR) composite amplification, capillary electrophoresis typing, and gene fragment analysis technology to detect 64 amniotic fluid samples, which were indicated high risks of trisomy 18 and 21 by non-invasive prenatal diagnostic technology (NIPT). The results are compared with the results of karyotype analysis and chromo-some copy variations (CNVs). Sixty-four samples were determined by FQ-PCR technology with the help of short tandem repeat (STR) regarded as molecular marker (STR-FQ-PCR), the result showed 61 cases of chromosomal aneuploidy were positive, including 14 cases of Edward syndrome and 47 cases of Down syndrome. A total of 460 STR locus genotypes were detected, containing 84 STR locus genotypes of Edward syndrome and 376 STR locus genotypes of Down syndrome. Chromosome karyotype analysis showed that the detected samples were all chromosomal aneuploidy. Among them were 15 cases of trisomy 18, including 14 cases of homozygous type and 1 case of chimeric type, 49 cases of trisomy 21, consisting of 47 cases homozygous type and 2 cases chimeric type. Sixty-two cases of chromosomal aneuploidy were detected by CNVs with 14 cases of trisomy 18 and 48 cases of trisomy 21. The detectable rate of STR-FQ-PCR technology is 95.31% while the karyotype analysis is the highest with 100%. For non-chimera and non-structural abnormal samples, the coincidence rate of results between STR-FQ-PCR technology and karyotype analysis was 100%. All above manifested the application of multiple STR loci for rapid diagnosis of Down syndrome and Edward syndrome has high clinical value.

Parents of children with Down syndrome and their experiences with the healthcare services.

Children and adolescents with Down syndrome have a comprehensive need for follow-up in the primary and specialist healthcare services. In June 2019, we published a questionnaire on the Facebook group of the Norwegian Network for Down syndrome. The purpose was to investigate user experiences among parents of children and adolescents with Down syndrome in the age group 0-20years, in their encounter with the healthcare services. We received 174responses. Those most satisfied were parents of children who received follow-up for secondary diagnoses such as vision problems, heart defects and endocrine disorders. Those least satisfied were parents of children with problems associated with behaviour, sleep and puberty. Approximately 6out of 10parents reported no negative experiences in their encounter with the healthcare services, but 29/161 (18%) reported that the diagnosis of Down syndrome had contributed to treatment failure by the paediatrician or in the child rehabilitation service. The study indicates a need for improved follow-up of children and adolescents with Down syndrome, both in the primary and specialist healthcare services.

Down Syndrome, Obstetricians Should Know

Down syndrome is the most common trisomy abnormality, and generally occurs in about 1 in 700 surviving children. According to a Korean study, the prevalence of Down syndrome was about 5.03 out of 10,000 surviving children born from 2007 to 2016 and about 200-277 newborns with Down syndrome were born every year. In the past, the average survival age of Down syndrome was low, but recently it has been extended to 60 years and the quality of life is improving. Recently, there have been many improvements in the education of children with Down syndrome, and various studies have been conducted at the preclinical and clinical stages about cognitive impairment, which was thought to be impossible to treat previously. In Korea, obstetricians mainly play the role of providing medical information in the process of screening and confirming Down syndrome. Therefore, medical staff need to be familiar with the latest knowledge on medical conditions, treatment and prognosis, and quality of life of Down syndrome. Through this review, we provide information on prenatal diagnosis and counseling for Down syndrome and medical problems that may occur in Down syndrome. We also review the latest research on improving cognitive function of Down syndrome. In addition, we summarize literature in Korean about Down syndrome from a social point of view and introduce websites and social media related to Down syndrome, as well as an economic support system in Korea. By providing comprehensive and contemporary information, we ultimately hope to help families with Down syndrome.

Prenatal Genetic Screening, Epistemic Justice, and Reproductive Autonomy

AbstractNoninvasive prenatal testing (NIPT) promises to enhance women's reproductive autonomy by providing genetic information about the fetus, especially in the detection of genetic impairments like Down syndrome (DS). In practice, however, NIPT provides opportunities for intensified manipulation and control over women's reproductive decisions. Applying Miranda Fricker's concept ofepistemic injusticeto prenatal screening, this article analyzes how medical professionals impair reproductive decision-making by perpetuating testimonial injustice. They do so by discrediting positive parental testimony about what it is like to raise a child with DS. We argue that this testimonial injustice constitutes a twofold harm: (1) people with DS and their family members who claim that parenting a child with DS may be a rewarding and joyous experience are harmed when they are systematically silenced, disbelieved, and/or denied epistemic credibility by medical professionals, and (2) pregnant women are harmed since they might make poorly informed choices without access to all relevant information. The broader implication of the analysis is that epistemic justice is a precondition of reproductive autonomy. We conclude by calling for federal oversight of the acquisition and dissemination of information that prospective parents receive following a positive diagnosis of DS to ensure that it is comprehensive and up to date.

Down Syndrome and Autism Spectrum Disorder Dual Diagnosis: Important Considerations for Speech-Language Pathologists.

Purpose Individuals with Down syndrome (DS) often receive speech-language therapy services starting in infancy or toddlerhood. When providing speech-language therapy services for children with DS, speech-language pathologists (SLPs) need to consider the impact of other developmental and comorbid disorders that can affect language development, such as the presence of a dual diagnosis of DS and autism spectrum disorder (DS + ASD). The prevalence rate of ASD in DS is ~20%, which is higher than in the general population. Method This clinical focus article aims to provide SLPs with additional knowledge about DS + ASD to improve service delivery and support parents' ability to advocate for their child with confirmed or suspected DS + ASD. This is accomplished by summarizing the current evidence base on the presence of ASD in DS and discussing implications of a DS + ASD diagnosis for clinical practice with SLPs. Conclusions SLPs play a key role in supporting families of those with DS + ASD by advocating and educating. By understanding the unique profiles of strengths and weaknesses of individuals with DS + ASD, SLPs can provide appropriate service delivery (i.e., treatment and intervention approaches) and advocacy for their clients and their families.

Mobile Game Development for Children with Down Syndrome

Children with diagnosis of down syndrome has different kinds of personalities, mental states, and talents similar to other children. The key point is that every child needs proper support at the right time. There are options like special education programs, physical and other therapies, and play groups. However, there are not any electronic games to support the education and improvement of these children. The goal of this study is to develop a mobile game for children with down syndrome, in order to help them learn everyday knowledge by using a mobile device such as a smart phone or a tablet. In most cases pedagogues use puzzle or paper based card games to teach these children the necessary knowledge they need to maintain their lives. This study aims to optimize the learning process of children with down syndrome by providing educators electronic games they can use to teach them in a mobile application which will enrich the teaching process in addition to update their teaching methods to Industry 4.0 standards.

Craniofacial morphology in down syndrome: a systematic review and meta-analysis.

The aim of this study was to evaluate the craniofacial cephalometric characteristics of individuals with Down syndrome (DS), comparing them with healthy subjects. An electronic search was made in Pubmed, Embase, Lilacs, Scopus, Medline and Web of Science without imposing limitations on publication date or language. Studies were selecting following the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) statement. The PECO acronym was applied as follows: P (population), individuals with DS; E, (exposition) diagnosis of DS; C (comparison), individuals without DS; O (outcomes) craniofacial characteristics based on cephalometric measurements. Independent reviewers performed data extraction and assessed the methodological quality of the articles using the Newcastle–Ottawa Quality-Assessment-scale. Seven case–control studies were included in meta-analysis. Given the variability of the cephalometric measurements used, only those that had been reported in at least three or more works could be included. Anterior cranial base length (SN), posterior cranial base length (SBa), total cranial base length (BaN), effective length of the maxilla (CoA), sagittal relationship between subspinale and supramentale (ANB), anterior facial height (NMe), and posterior facial height (SGo) values were significantly lower in the DS population than among control subjects. No significant differences were found in sagittal position of subspinale relative to cranial base (SNA) and sagittal position of supramentale relative to cranial base (SNB). Summarizing, individuals with DS present a shorter and flatter cranial base than the general population, an upper jaw of reduced sagittal dimension, as well as a tendency toward prognatic profile, with the medium third of the face flattened and a reduced anterior and posterior facial heights.

Neonatal complications of Down syndrome and factors necessitating intensive care.

Limited knowledge exists about how frequently newborns with Down syndrome receive a prenatal diagnosis, require intensive care, and what surgical and medical factors are contributory. A retrospective cohort study was performed for patients with a diagnosis of Down syndrome born in 2013 and 2014 who sought care at Cincinnati Children's Hospital Medical Center during the first year of life. Data were extracted from the electronic medical record through the first year of life including need for intensive care as a newborn, prenatal diagnosis, and medical and surgical complications. Of the 129 patients in the study, 65% required intensive care as newborns. The presence of a structural abnormality that required surgical correction in the neonatal period and certain types of congenital heart disease not requiring surgical intervention in the neonatal period were positively associated with the need for intensive care. A minority of infants, 8%, had a confirmed prenatal diagnosis. A majority of newborns with Down syndrome required intensive care following birth while a minority had any concern for the diagnosis prenatally. Improving prenatal diagnostic rates would allow for better prenatal counseling and delivery planning, while targeting therapeutic interventions for this population is needed to improve outcomes.

Types and Distribution of Congenital Heart Defects in Pediatric Patients with Down's Syndrome: A Retrospective Study.

BackgroundCongenital heart disease (CHD) is common in patients with Down’s syndrome (DS), rendering them at risk of significant mortality and morbidity. However, all patients with confirmed DS must undergo further investigation for a cardiac anomaly early in their lives.ObjectiveTo define frequency and patterns of CHD among children with DS in Northwest, Saudi Arabia (SA).MethodsA five-year chart review study was conducted in Northwest SA between January 2015 and June 2019. We included all children referred to the pediatric cardiology clinic with a confirmed diagnosis of DS and CHD. Children were identified in the clinic’s database, and charts were reviewed retrospectively. ResultsAmong 851 patients with CHD, 53 were identified with DS. Male patients represented 62.3%, while female patients represented 37.7%. The median patients’ age at the time of diagnosis was two days, with most patients diagnosed before 28 days old (67.9%). This study found that atrial septal defect (ASD) and patent ductus arteriosus (PDA) were the most common isolated lesions (37% of isolated cases), while the most common combined lesions were ASD, ventricular septal defect (VSD), and PDA, as well as combined ASD and VSD. Female gender was significantly associated with higher percentage of VSD (p = 0.031) more than male. While male patients had significantly higher percentages of ASD and valvular anomalies than female patients (p = 0.019 and 0.033, respectively).ConclusionsThe patient’s gender was significantly associated with some types of CHD. Both ASD and valvular lesions were more common among males, while VSD was more common among female patients, no gender differences were detected regarding the other types of CHD.