scholarly journals Congenital anomalies and genetic disorders in neonates and infants: a single-center observational cohort study

2021 ◽  
Author(s):  
A. Marouane ◽  
R. A. C. M. Olde Keizer ◽  
G. W. J. Frederix ◽  
L. E. L. M. Vissers ◽  
W. P. de Boode ◽  
...  
Keyword(s):  
Congenital Anomalies ◽  
Neonatal Intensive Care ◽  
Diagnostic Yield ◽  
Genetic Disorders ◽  
Genetic Disorder ◽  
Genetic Diagnosis ◽  
Neonatal Intensive Care Units ◽  
Academic Level ◽  
Observational Cohort ◽  
Neonates And Infants

AbstractNeonates with genetic disorders or congenital anomalies (CA) contribute considerably to morbidity and mortality in neonatal intensive care units (NICUs). The objective of this study is to study the prevalence of genetic disorders in an academic level IV NICU. We retrospective collected and analyzed both clinical and genetic data of all 1444 infants admitted to the NICU of the Radboudumc (October 2013 to October 2015). Data were collected until infants reached at least 2 years of age. A total of 13% (194/1444) of the patients were genetically tested, and 32% (461/1444) had a CA. A total of 37% (72/194) had a laboratory-confirmed genetic diagnosis. In 53%, the diagnosis was made post-neonatally (median age = 209 days) using assays including exome sequencing. Exactly 63% (291/461) of the patients with CA, however, never received genetic testing, despite being clinically similar those who did.Conclusions: Genetic disorders were suspected in 13% of the cohort, but only confirmed in 5%. Most received their genetic diagnosis in the post-neonatal period. Extrapolation of the diagnostic yield suggests that up to 6% of our cohort may have remained genetically undiagnosed. Our data show the need to improve genetic care in the NICU for more inclusive, earlier, and faster genetic diagnosis to enable tailored management. What is Known:• Genetic disorders are suspected in many neonates but only genetically confirmed in a minority.• The presence of a genetic disorder can be easily missed and will often lead to a diagnostic odyssey requiring extensive evaluations, both clinically and genetically. What is New:• Different aspects of the clinical features and uptake of genetic test in a NICU cohort.• The need to improve genetic care in the NICU for more inclusive, earlier, and faster genetic diagnosis to enable tailored management.

scholarly journals Congenital Anomalies in Neonates Admitted in Neonatal Intensive Care Units, Cairo University

2021 ◽  
Vol 89 (9) ◽  
pp. 1907-1916
Author(s):  
ABDELRAHMAN A. ABDELRAZEK, M.D.; SAFAA M. ABDELRAHMAN, M.D. ◽  
RANIA M.H. ELKAFASE, M.D.; IMAN E. ABDEL MEGUID, M.D. ◽  
ZEINAB A. EL-SAYED, M.Sc.
Keyword(s):  
Intensive Care ◽  
Intensive Care Units ◽  
Congenital Anomalies ◽  
Neonatal Intensive Care ◽  
Neonatal Intensive Care Units

scholarly journals Genetic disorder prenatal diagnosis and pregnancy termination practices among high consanguinity population, Saudi Arabia

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Sayed AbdulAzeez ◽  
Nourah H. Al Qahtani ◽  
Noor B. Almandil ◽  
Amani M. Al-Amodi ◽  
Sumayh A. Aldakeel ◽  
...  
Keyword(s):  
Saudi Arabia ◽  
Prenatal Diagnosis ◽  
Family History ◽  
Pregnancy Termination ◽  
Genetic Disorders ◽  
Genetic Disorder ◽  
Genetic Diagnosis ◽  
Limiting Factors ◽  
Good Opportunity ◽  
Awareness Campaigns

AbstractThe prevalence of consanguineous marriage and genetic disorders are high in Saudi Arabia. There were records on the practices of Saudis toward prenatal diagnosis (PND) and termination of pregnancy (TOP), however the sample sizes are small. This study has targeted the Saudi Arabian community and family history of genetic disorders to determine the practices toward PND and TOP. The cross-sectional survey was conducted among Saudis (n = 2761) to determine their practices toward reproductive-decision making. Regression analysis was conducted to identify the association of the limiting factors, relative merits and family history on the outcomes. Total of 2507 participants returned completed questionnaire. The practice towards PND (68%) were more favorable than TOP (33%). PND was found to be a good opportunity for early diagnosis and gives parent’s choice. Education, history with affected baby, prior knowledge and religious belief were significant deciding factors of PND and TOP. Down syndrome (n = 161) and sickle cell anemia (n = 152) were commonly available genetic disorder among participant’s family. Respondents with autistic cases in their family have higher acceptance rate for TOP. Non-consanguineous are more willing to consider TOP than consanguineous. Participants with abnormal fetus, aged of > 36 years, married and educated Saudis were more likely consider TOP. Though, religion is the most influencing factor for not accepting TOP, comparatively willingness to PND and TOP have increased recently. Awareness campaigns about PND and TOP may increase the chances of accepting prenatal genetic diagnosis.

Association between Congenital Anomalies and Area-Level Deprivation among Infants in Neonatal Intensive Care Units

2012 ◽  
Vol 30 (03) ◽  
pp. 225-232
Author(s):  
Sarah Collier ◽  
Lucia Mirea ◽  
Junmin Yang ◽  
Mary Seshia ◽  
Prakesh Shah ◽  
...  
Keyword(s):  
Intensive Care ◽  
Intensive Care Units ◽  
Congenital Anomalies ◽  
Neonatal Intensive Care ◽  
Neonatal Intensive Care Units

Behavioural phenotypes associated with specific genetic disorders: evidence from a population-based study of people with Prader-Willi syndrome

2002 ◽  
Vol 33 (1) ◽  
pp. 141-153 ◽  
Author(s):  
A. J. HOLLAND ◽  
J. E. WHITTINGTON ◽  
J. BUTLER ◽  
T. WEBB ◽  
H. BOER ◽  
...  
Keyword(s):  
Learning Disabilities ◽  
Genetic Disorders ◽  
Genetic Disorder ◽  
Genetic Diagnosis ◽  
Learning Disabled ◽  
Structured Interview ◽  
Prader Willi Syndrome ◽  
Multiple Sources ◽  
Behavioural Phenotype ◽  
Severe Problem

Background. Prader-Willi syndrome (PWS) is a genetic disorder resulting in obesity, short stature, cryptorchidism, learning disabilities (mental retardation) and severe neonatal hypotonia. Associated with the syndrome are a number of behaviours that are sufficiently distinctive that the syndrome is considered to have a specific ‘behavioural phenotype’.Methods. Through multiple sources we attempted to identify all people with PWS living in one region in the UK. This cohort was augmented by people with PWS from other regions, and a contrast group of people with learning disabilities of varied aetiologies. The main carers were interviewed, using structured and semi-structured interview schedules, to establish the presence and severity of specific behaviours, and PWS diagnostic criteria. The intellectual functioning and attainments of all were determined. Blood samples were obtained for genetic diagnosis from all consenting participants.Results. Although excessive eating was recognized as a potentially severe problem in those with PWS, it was almost universally controlled by food restriction, and therefore not seen as a ‘problem behaviour’. Those with PWS differed from a learning disabled group of other aetiologies in the prevalence rates of skin picking, temper tantrums, compulsive behaviours and mood fluctuations, and also in the profile of their adaptive behaviours.Conclusions. The study confirms the distinct behavioural phenotype of PWS. Specific behaviours occurred significantly more frequently in PWS, compared with an age and BMI matched learning disabled comparison group. A factor analysis of the behaviours involved resulted in three factors that we hypothesized to be independent, and to arise from different mechanisms.

What Potent Blood: Non-Invasive Prenatal Genetic Diagnosis and the Transformation of Modern Prenatal Care

2007 ◽  
Vol 33 (1) ◽  
pp. 9-53 ◽  
Author(s):  
Carolyn Jacobs Chachkin
Keyword(s):  
Genetic Disorders ◽  
Genetic Disorder ◽  
Genetic Material ◽  
Genetic Diagnosis ◽  
Prenatal Testing ◽  
Maternal Blood ◽  
Non Invasive ◽  
Tay Sachs Disease ◽  
Promising Solution ◽  
Low Levels

What potent blood hath modest May,What fiery force the earth renews,The wealth of forms, the flush of hues ….—Ralph Waldo EmersonSomeday soon, virtually any pregnant woman will be able to learn — with 98-99% accuracy — whether her fetus has contracted a serious genetic disorder by undergoing nothing more than an inexpensive, non-invasive blood test. For years, scientists have sought a method of prenatal testing that could boast both high levels of accuracy and low levels of risk. The most promising solution lies in an exciting recent discovery: tiny quantities of fetal cells and DNA cross over into the mother's bloodstream during pregnancy. If the fetal genetic material can be successfully isolated from the maternal blood, it can be used to diagnose a number of genetic disorders, such as Down Syndrome, cystic fibrosis, Tay-Sachs disease, and sickle cell anemia. Indeed, researchers have spent the last decade developing ways to accomplish this.

Per-oral flexible laryngoscopy in awake neonates and infants: the ‘pacifier’ technique

2014 ◽  
Vol 128 (2) ◽  
pp. 169-170 ◽  
Author(s):  
P Loizou ◽  
N Haloob ◽  
E Evgeniou
Keyword(s):  
Intensive Care ◽  
Intensive Care Units ◽  
Neonatal Intensive Care ◽  
Literature Search ◽  
Neonatal Intensive Care Units ◽  
Standard Practice ◽  
Flexible Laryngoscopy ◽  
Neonates And Infants ◽  
Per Oral

AbstractBackground:It is common for ENT specialists to be called to neonatal intensive care units to assess neonates with suspected laryngomalacia. At Addenbrooke's Hospital, Cambridge, UK, it is standard practice to initially try to assess the larynx whilst the patient is awake. This can cause the patient to cry and become irritable, and can induce worry in the parents. A literature search revealed that numerous procedures have been successfully performed on neonates and infants whilst they were being pacified.Objectives:This paper describes various procedures where pacification has been used effectively. Furthermore, it reports a pacification technique developed for per-oral flexible laryngoscopy in awake neonates and infants.

Infants with Congenital Anomalies Admitted to Neonatal Intensive Care Units

2004 ◽  
Vol 21 (4) ◽  
pp. 199-207 ◽  
Author(s):  
Anne R Synnes ◽  
Margaret Berry ◽  
Huw Jones ◽  
Margaret Pendray ◽  
Shawn Stewart ◽  
...  
Keyword(s):  
Intensive Care ◽  
Intensive Care Units ◽  
Congenital Anomalies ◽  
Neonatal Intensive Care ◽  
Neonatal Intensive Care Units

scholarly journals Rapid Exome Sequencing for Critically Ill Children: Implementation and Challenges in the Asian Context

2021 ◽  
Author(s):  
Nikki Fong ◽  
Jiin Ying Lim ◽  
Breana Cham ◽  
Sylvia Kam ◽  
Chew Yin Goh ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Critically Ill ◽  
Diagnostic Yield ◽  
Genetic Disorders ◽  
Genetic Diagnosis ◽  
Critically Ill Children ◽  
Diagnostic Study ◽  
Next Generation ◽  
Paediatric Patients ◽  
Generation Sequencing

Abstract Objective: Use rapid next-generation sequencing (NGS) to improve our diagnostic yield in critically ill paediatric patients with suspected genetic disorders in the Asian setting.Design: A diagnostic study conducted between April 2018 and January 2019.Methods: Next-generation sequencing was performed with the TruSight One gene panel (targeting 4813 genes) followed by MiSeq sequencing on 10 patients who presented with suspected genetic disorders as assessed by their attending physicians. Results: In 4 of the 10 cases (40%), a genetic diagnosis was achieved, with one further case diagnosed on re-analysis of data 2 years later. The median turn-around time (TAT) for results was 9.5 working days (range 5-19 days). Challenges faced during implementation included sample availability, managing parental and primary physician expectations, cost of testing, and bioinformatic resources.Conclusion: RapidSeq is an effective method for diagnosing patients with rare diseases, which aids in shortening the diagnostic odyssey, while allowing clinicians to appropriately tailor management for the underlying disorder, and provide accurate genetic counselling for families. However, challenges such as cost and insurance implications still remain a barrier to more widespread use of genomic testing in the local setting, and continued efforts will be required to optimise RapidSeq for use in paediatric patients in the ICU.

scholarly journals Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit

2020 ◽  
Vol 9 (7) ◽  
pp. 2220
Author(s):  
Robert Śmigiel ◽  
Mateusz Biela ◽  
Krzysztof Szmyd ◽  
Michal Błoch ◽  
Elżbieta Szmida ◽  
...  
Keyword(s):  
Intensive Care Unit ◽  
Intensive Care ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Diagnostic Tool ◽  
Diagnostic Yield ◽  
Genetic Disorder ◽  
Genetic Diagnosis ◽  
Monogenic Disease ◽  
Whole Exome

Genetic disorders are the leading cause of infant morbidity and mortality. Due to the large number of genetic diseases, molecular and phenotype heterogeneity and often severe course, these diseases remain undiagnosed. In infants with a suspected acute monogenic disease, rapid whole-exome sequencing (R-WES) can be successfully performed. R-WES (singletons) was performed in 18 unrelated infants with a severe and/or progressing disease with the suspicion of genetic origin hospitalized in an Intensive Care Unit (ICU). Blood samples were also collected from the parents. The results from the R-WES were available after 5–14 days. A conclusive genetic diagnosis was obtained in 13 children, corresponding to an overall diagnostic yield of 72.2%. For nine patients, R-WES was used as a first-tier test. Eight patients were diagnosed with inborn errors of metabolism, mainly mitochondrial diseases. In two patients, the disease was possibly caused by variants in genes which so far have not been associated with human disease (NARS1 and DCAF5). R-WES proved to be an effective diagnostic tool for critically ill infants in ICUs suspected of having a genetic disorder. It also should be considered as a first-tier test after precise clinical description. The quickly obtained diagnosis impacts patient’s medical management, and families can receive genetic counseling.

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