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Revue systématique / La maladie d'Alzheimer (MA) est fréquente chez les personnes avec un syndrome de Down (SD). Cependant, détecter les premiers signes de la maladie est difficile en raison de la déficience intellectuelle (DI), du vieillissement cognitif précoce et de la prévalence élevée de problèmes de santé pouvant affecter la cognition. La MA est souvent diagnostiquée seulement au stade de la démence. L'un des défis est de déterminer si les troubles cognitifs sont liés à la DI ou à un déclin par rapport à un état antérieur. Pour surmonter ce problème, différents instruments d'évaluation sont utilisés, mais ils manquent de sensibilité et de spécificité et les premiers stades de cette maladie posent un défi. L'objectif de cette étude était de passer en revue de manière systématique les instruments permettant de détecter les premiers symptômes de la maladie d’Alzheimer chez les personnes avec un SD. Nous avons utilisé la méthodologie PRISMA pour identifier les articles publiés en anglais avant décembre 2022 dans quatre bases des données: PsycInfo, MEDLINE, Health and Psychosocial Instruments et Embase. Au total, 1 325 articles ont été identifiés, dont 75 pertinents après une sélection minutieuse. Ils portaient sur 40 instruments d'évaluation, tels que des questionnaires, des tests cognitifs et des batteries. Les données provenaient de 17 pays, principalement d'Europe et d'Amérique du Nord, avec 10 021 participants avec une déficience intellectuelle. Parmi eux, 6 708 avaient un syndrome de Down, et les études étaient principalement en anglais. Certains questionnaires/échelles, comme le Dementia Screening Questionnaire for Individuals with Intellectual Disabilities, l’Informant Questionnaire on Cognitive Decline in the Elderly et le Dementia Questionnaire for People with Learning Disabilities, des tests cognitifs tels que le Cued Recall Test, Picture Memory Impairment Screen for People with Intellectual Disability et le Down Syndrome Mental Status Examination, et la batterie National Task Group-Early Detection Screen for Dementia , sont recommandés pour la détection des premiers symptômes de la maladie d’Alzheimer chez les personnes avec un syndrome de Down. Pour une évaluation plus complète, le Cambridge Examination for Mental Disorders of Older People with Down's Syndrome and Others with Intellectual Disabilities est recommandé. / Alzheimer's Disease (AD) is prevalent in individuals with Down Syndrome (DS). However, detecting early signs of the disease is challenging due to intellectual disability (ID), early cognitive aging, and a high prevalence of health issues that can impact cognition. AD is often diagnosed only at the dementia stage. One challenge is determining whether cognitive impairments are linked to ID or a decline from a previous state. To address this issue, various assessment tools are utilized, but their lack of sensitivity and specificity for early stages of AD presents a challenge. The objective of this study was to systematically review instruments for detecting early symptoms of AD in individuals with DS. We employed the PRISMA methodology to identify articles published in English before December 2022 in four databases: PsycInfo, MEDLINE, Health and Psychosocial Instruments, and Embase. A total of 1,325 articles were identified, with 75 deemed relevant after careful selection. They covered 40 assessment instruments, including questionnaires, cognitive tests, and test batteries. Data were sourced from 17 countries, primarily in Europe and North America, involving 10,021 participants with intellectual disabilities. Among them, 6,708 had DS, and the studies were predominantly in English. Some questionnaires/scales such as Screening Questionnaire for Individuals with Intellectual Disabilities, Informant Questionnaire on Cognitive Decline in the Elderly, and Dementia Questionnaire for People with Learning Disabilities, cognitive tests like Cued Recall Test, Picture Memory Impairment Screen for People with Intellectual Disability, and Down Syndrome Mental Status Examination, as well as the National Task Group-Early Detection Screen for Dementia battery, are recommended for detecting early symptoms of AD in individuals with DS. For a more comprehensive assessment, Cambridge Examination for Mental Disorders of Older People with Down's Syndrome and Others with Intellectual Disabilities are recommended.

18q- is a chromosomal deletion disorder caused by missing genetic material from the long arm of the 18th chromosome. The extensive impairments associated with 18qmay be a significant source of stress to parents. Research on families of handicapped children suggests that these families experience additional stress related to challenges such as increased caregiving demands, changes in social support systems, and financial burdens related to medical needs and decreased income. Changes in the family environment are also implicated in families coping with a disabled child. Some studies reveal highly cohesive environments within these families, while others reveal decreased levels of expressiveness and cohesion and increases in conflict. The present study compared variables of parenting stress and family environment in families of children with and without disabilities. Group 1 consisted of 24 primary caregivers of children with 18q-. Group 2 consisted of 32 primary caregivers of children with DS. Group 3 consisted of 32 primary caregivers of typically developing children. A one-way, between groups multivariate analysis of variance (MANOVA) was conducted to investigate differences in parenting stress on three subscales of the Parenting Stress Index. A significant difference between groups was found. Post hoc pairwise comparisons indicated that the DS group reported statistically significantly more stress than the Control group on both the Isolation and Spouse subscales. The 18q- group was not found to be statistically significantly different from either the Control or DS group on any of the three PSI subscales. A one-way, between groups multivariate analysis of variance (MANOVA) was also conducted to investigate differences in family environment on three subscales of the Family Environment Scale. A significant difference between groups was found. Post hoc pairwise comparisons indicated that the DS group showed statistically significantly less amounts of cohesion in the family environment than both the 18q- and Control groups. The 18q- group showed similar levels of cohesion to the Control group. There were no significant differences between groups on the other two FES subscales. Findings from the study provide important information about the role of family environment and parenting stress in families of children with disabilities. Limitations of the study and implications for future research and practice are discussed. / text

Thesis (MEdPsych (Educational Psychology))--University of Stellenbosch, 2008. / The inclusion policy which is currently being implemented according to White Paper 6 (July 2001) has raised many questions and debates. In South Africa at the moment there is a focus on the implementation of inclusion policies in primary schools. Although many studies have been conducted on Down syndrome, there seems to have been little focus on the adolescent. Specifically their experiences in the high school context appear to have received little attention. This paper focused on the experiences of an adolescent with Down syndrome who has been mainstreamed into a high school. The experiences are discussed within identified indicators of quality of life namely; peer relationships, experiences of academic, general school and extra-mural activities. In addition the effects of Down syndrome on areas such as adolescence, inclusion strategies, behaviour and social skills are also investigated. The findings of this paper were that of adolescents with Down syndrome can be successfully mainstreamed if their individual needs are catered for. These needs include opportunities to spend time with learners with the same abilities as their own. Satisfaction was experienced by the participant and her parents regarding her academic placement and scholastic achievements. A factor that played a role in her successful placement was the supportive environment she was in. Although satisfaction was experienced with regards to the process of inclusion there were parental concerns regarding her future independence.

Thesis (MEdPsych (Educational Psychology))--University of Stellenbosch, 2007. / The research focuses on the needs of Xhosa-speaking learners with Down syndrome. The needs of these learners are not known by the service providers. Different organisations base their service delivery to these communities on the needs of learners with Down syndrome from other cultures. It was therefore imperative for this study to discover the needs of Xhosa-speaking learners with Down syndrome from a disadvantaged background. The study involves a case study of two Xhosa speaking learners with Down syndrome. A major aim was to depict the quality of life of the learners with Down syndrome. This was done from an ecosystemic perspective. In the case study the needs of these two learners with Down syndrome in a Xhosa community are portrayed through the voices of their parents, educators, neighbours, and the two learners with Down syndrome. The following means of data production were used: interviews and observations. The parents, siblings of the learners with Down syndrome, and the learners with Down syndrome were seen as experts in the process.

Thesis (MEdPsych (Educational Psychology)--Stellenbosch University, 2008. / The research aims to investigate the employment experiences of a South African adult with Down syndrome, and to explore whether this improves the quality of life for this adult across several areas of functioning. This qualitative research design is situated within an interpretive research paradigm. A Case study method was used. Data have been produced using multiple sources and techniques to enhance validity. These include interviews, observation, field notes and questionnaires. Full account has been taken of ethical considerations. The case study shows that this adult with Mosaic Down syndrome and intellectual disability, who is permanently employed in the open labour market, is seen as an asset by the company. Training and support have benefited him and extra supervision and attention needed are minimal. His skills, attitudes, and family support have also enhanced his quality of life. This adult's employment experiences have contributed to a culture of acceptance of and openness to intellectual disability in the formal industrial sector. This is an example of what can be accomplished regardless of intellectual disability. As this is a case study the generalisation of the findings are limited.

<p>UVOD Prenatalna dijagnostika predstavlja skup metoda i postupaka čiji je cilj da potvrde ili isključe postojanje kongenitalnih anomalija ploda. Prenatalni skrining može biti ne invazivni i invazivni. Ne invazivni skrining treba da ima visku senzitivnost i da omogući adekvatnu selekciju trudnica kojima će se predložiti genetsko ispitivanje ploda iz uzoraka dobijenih invazivnim metodama prenatalne dijagnostike. Prenatalni skrining prvog trimestra trudnoće obuhvata ultrazvučni pregled debljine nuhalne translucencije i laboratorijsku analizu dva biohemijska markera od 11 do 14 nedelje trudnoće, Prenatalni skrining drugog trimestra trudnoće koji se zasniva na biohemijskom skriningu i tripl testu iako je jedini koji se primenjuje zbog niske senzitivnosti od 20% do 40%, ne može se smatrati validnim. Integrativni biohemijski test prvog i drugog trimestra imaj veću senzitivnost (od 40 do 60%) ali ni on nije dao očekivane rezultate u adekvatnoj selekciji trudnica za genetsku analizu ploda zbog visoke stope lažno pozitivnih rezultata. Drugi trimestar trudnoće omogućava sonografskim pregledima i biohemijskim analizama dopunski način a u nekim slučajevima i jedini u proceni postojanja rizika Daunovog sindroma ili nekih drugih hromozomskih aberacija ploda Zato je primena integrativnih prenatalnih ne invazivnih metoda prvog i drugog trimestra trudnoće veoma značaja u pobolj&scaron;anju dijagnostičkih vrednosti prenatalnih skrining testova i ima za cilj da smanji procenat invazivnih procedura zbog mogućih komplikacija i ne potrebnih finansijskih tro&scaron;kova. Daunov sindrom(trizomija 21 para hromozoma) je najče&scaron;ća hromozomska numerička aberacija praćena mentalnom retardacijom dece (I.Q&lt;70. ) Deca sa Daunovim sindromom su karakterističnog fenotipskog izgleda i sa čestim kongenitalnim anomailjama koje im onemogućavaju normalan život a često su i uzrok njihove prerane smrtnosti. Kongenitalne anomalije su zastupljene kod 2% do 5% živo rođene dece, predstavljaju 25 % perinatalne smrtnosti, četvrtina su uslovljnene hromozomskim aberacijama ili naslednom osnovom, od čega 0, 2%-0, 4% su sa Daunovim sindromom. CILJEVI Ciljevi četrorogodi&scaron;njeg istraživanja su bili da se pobolj&scaron;a dijagnostička vrednost postojećih prenatalnih testova, da se potvrdi značaj ultrazvučnog skrininga drugog trimestra trudnoće analizom debljine vratne brazde i dužine butne kosti ploda te da se pobolj&scaron;a njegova senzitivnost korporativnom sonografskom analizom cefaličnog indexa, intraorbitalnog rastojanja i dužine fronto-talamične distance. MATERIJAL I METODE Ukupan broj trudnica obuhvaćen četvorogodi&scaron;njim ispitivanjem koje su ultrazvučno pregledane i kojima je savetovano genetsko ispitivanje ploda blio je 4552. Tokom Retrospektivnog dvogodi&scaron;njieg ( 2010.2011)bila je 2169 dok je prospektivnom dvogodi&scaron;njom analizom (2012, 2013)je bilo obuhvaćeno 2383 trudnica. Ispitivana grupa su bile trudnice kod kojih je genetskom analizom otkriven patolo&scaron;ki kariotip ploda, kontrolna grupa je obuhvatila sve ostale trudnice kod je kariotip ploda bio normalan od kojih su 124 trudnice odabrane metodom slučajnog izbora. Retrospektivnom studijom ultrazvučna je pregledana dužina vratne brazde(&gt;6mm i dužina butne kosti&lt;0, 6 od 14 do 22 nedelje trudnoće. Analizirana je cirkulacija fetalne krvi kroz duktus venosus ploda( a talas) i postojanje nosne kosti ploda(+, -). Prospektivnom analizom je ultrazvučnim pregledom ploda dodatno analiziran cefalični index(&gt;85%), i intraorbitalna distanca i duzina fronto-talamične distance(&lt;80%) ploda. Kori&scaron;ćene su metode deskriptivne statističke analize, aritmetička sredina, standardna devijacija, najmanja i najveća vrednost kod parametrijskih obeležja dok su za ne parametrijska postojanje nosne kosti i alfa talasa duktusu venozusu kori&scaron;ćene druge statističke metode, a komparativnim statističkim metodama kod normalnih, patolo&scaron;kih i kariotipova sa Daunovim sindromom ploda. Statistička značajnost je dokazana t testom a definisana nivoom p&lt;0, 05 i p&lt;0, 001 odnosom kod normalnih, patolo&scaron;kih kariotipova i Daunovog sindroma. Multifaktorskom regresivnom logističkom analizom je urađena procena senzitvnosti prenatalnog ultrazvučnog skrininga sa ispitivanim obeležjima drugog trimestra trudnoće REZULTATI I DISKUSIJA Od ukupnog broja ultrazvučno pregledaninh trudnica 4552 kojima je savetovano genetska analiza ploda citogenetskom analizom je otkriveno 66 patolo&scaron;kih kariotipova 1, 49%, sa Dunovim sindromom 31 0, 68%. Deskriptivnom statističkom obradom ultrazvučno ispitivanih obeležja od 14 do 22 nedelje trudnoće, uočeno je odstupanje i potvrđen značaj starije životne dobi trudnica, debljine vratne brazde i dužine frontotalamične distance u odnosu na normalne nalaze katiotipova ploda u predikciji Daunovog sindroma.Vrednosti dužine butne kosti, cefaličnog indeksa i intraorbitalnog rastojanja nisu imala veća odstupanja u poređenju pato&scaron;kokih i normalnih nalaza kariotipova.Studentovim t testom je i dokazano p&lt;0, 001 za debljinu vratne brazde i dužinu fronto-talamične distance, dok je za stariju životnu dob trudnice potvrđeno a;0, 001. Senzitivnost prenatalnog skrininga drugog trimestra analizom debljine vratne brazde i dužine butne kosti je veća u odnosu na standardno primenjivan biohemijski skrining drugog trimestra tripl testa (senzitivnost 40%-60) sa velikom stopom lažno pozitivnih rezultata.Dokazan je značaj pobolj&scaron;anja senzitivnosti prenatalnih skrining testova dopunskom analizom tri ultrazvučna parametra, dužine fronto-talamične distance, cefaličnog indeksa i intraorbitalnog rastojanja u predikciji Daunovog sindroma, ali i kod ostalih hromozomskih aberacija ploda u periodu od 14 do 22 nedelje trudnoće primenomi multifaktorske logističke regresivne analize senzitivnost preko 93% sa 7% lažno pozitivnih rezultata. Postojanje korelacije između debljine vratne brazde i dužine fronto-talamične distance ploda pobolj&scaron;avai senzitivnost prenatalnih ultrazvučnog skrininga. Integrativnim pristupom ultrazvučnog i biohemijskog skrininga drugog trimesra trudnoće, tripl testa očekuje se pobolj&scaron;ati dijagnostičkih vrednosti prenatalnog skrininga senzitivnost ne invazivnog skrininga u predikciji Daunovog sindroma i ostalih hromozomskih aberacija ploda. ZAKLJUČCI 1Potvrđen je značaj starije životne dobi trudnice u povećanju rizika Daunovog sindoma, i ostalih hromozomskih aberacija ploda ( p&lt;0, 001) Potvrđen je značaj zadebljanja vratne brazde ploda &gt;6mm(p&lt;0, 001) i skraćenja butne kosti kod Daunovog sindroma ploda od 14 do 22 nedelje trudnoće u prenatalnom otkrivanju Dunovog sindroma i ostalih hromozomskih aberacija ploda i selekciji trudnica kojima će se predložiti genetsko ispitivanje ploda.Potvrđena je hipoteza da skraćenje fronto-talamične distance pobolj&scaron;ava senzitivnost ultrasonografskog skrininga, jer če&scaron;će postoji kod Daunovog sindroma ploda ali i ostalih numeričkih hromozomskih aberacija tipa, nego kod normalnih nalaza kariotipa ploda( p&lt;0, 001).Komparativnom analzom ultrazvučnim pregledom fronto-talamična distance debljine vratne brazde i dužine butne kosti ploda od 14 do 22 nedelje trudnoće može se značajno pobolj&scaron;ati vrednost dijagnostičkih prenatalnih testova u predikciji Daunovog sindroma. Postojanje korelacija između fronto-talamične distance i debljine vratne brazde dopunjuje ultrazvučni skrining i povećava njegovu senzitivnost na preko 90%, &scaron;to je multifaktorskom regresivnom logaritamskom analizom i potvrđeno. Značaj multidisciplinarnog pristupa pogotovo je izražen u predikciji Daunovog sindroma, obzirom na različite specijalnosti koje u njemu učestvuju. Cost &ndash; benefit analiza. Visoka senzitivnost ne invazivnog prenatalnog skrininga u predikciji Daunovog sindroma, smanjuje tro&scaron;kove za pojedince i državu jer je njihova cena i do dest puta manja od cene citogenetskih analiza, a i trudnice se ne izlažu riziku mogućih komplikacija prilikom izvođenja invazivnih metoda</p> / <p>INTRODUCTIONS Prenatal diagnostic procedure represent a set of methods and techniques with the aim to afirmate or eliminate the presence of Down&rsquo;s syndrome and other congenital anomalies Can be non-invasive and invasive methods. Non-invasive methods (laboratory or ultrasonographic) have the aim to make possible the most valid assessment of the risk of presence of an affected fetus in the pregnancy, selected pregnancy for invasive diagnostics procedures and citogenetics analisseskariotipingfoeti. Down&rsquo;s syndrome, aneuploidy with trisomy 21 chromosomal, is the most common chromosomal numerical aberration associated with mental retardation of children (IQ&lt; 70). Children with Down&rsquo;s syndrome have characteristic phenotypic appearance with high frequent congenital anomalies that preclude a normal life and are frequently the cause of their earlier death. AIM The aim of the four year long investigation was to confirm the importance of ultrasound screening by the analyses of the basic ultrasound parameters for the second trimester, the thickness of the nuchal fold and the length of the femur of the fetus in the prediction of Down&rsquo;s syndrome and other chromosomal aberrations of the fetus, as well as to improve other existing ultrasonic screenings of the first and second trimester of pregnancy by ultrasonic examination and analyses of the cephalic index and intraorbital space and the length of the fronto-thalamic distance. MATERIAL AND METODS Retrospective investigation (2010. 2011) and prospective investigation (2012.2013) includes 4655 pregnant women. For all pregnant women the genetic investigation of the fetus was performed. A total of 68 were found with chromosomal aberrations, 38 with Down&rsquo;s syndrome. The method of haphazard choice in retrospective study and in prospective study ultrasound markers are examined. In retrospective analyses of the nuchal fold (&lt;6mm and the length of femur &lt;0.6, that represent basic ultrasound screening of the second trimester and are analyzed as parametric signs of the second trimester, and are analyzed as parametric markers, and analyses of the circulation of fetal blood through ductus venosus of the fetus. In the retrospective study the length of the nuchal fold (&gt;6mm in length, that represent a basic ultrasound screening of the second trimester, and are analyzed as parametric markers in the prediction of Down&rsquo;s syndrome and other chromosomal aberrations. RESULTS AND DISCUSION Cytogenetic analyses revealed 66 (1, 49%) pathologic karyotypes and Down syndrome were present in 31 (0, 68%) cases. All pathologic karyotypes were obtained after ultrasound examinations of 4552 pregnant women. Ultrasound markers for period 14th-22nd GW were analyzed with descriptive statistical methods and importance of pregnancy in older women, thickness of nuchal fold and lengths frontal thalamic distance were proofed in case of Down syndrome. Femoral bone lengths, cephalic index and intraorbital distances were similar for both groups, normal and pathologic karyotypes. Student&rsquo;s t test revealed statistical significance with p&lt;0, 001 values for nuchal fold thickness, frontal thalamic distance and older ages.Three additional ultrasound markers (frontal thalamic distance, cephalic index, intraorbital distance) improve prediction of Down syndrome and other chromosomal aberrations between 14th and 22nd GW as well. Multifactorial logistic regressive analyses revealed 93% sensitivity with 7% false positive results. Corelation between nuchal fold thickness and frontal thalamic distance improve prenatal ultrasound screening sensitivity. Using both ultrasound and biochemical screening (triple test) is way to improve sensitivity of non invasive screening in prediction of Down syndrome and other chromosomal aberrations. CONCLUSIONS Importance of pregnant women ages and higher risk for Down syndrome and other chromosomal aberrations was proofed (p&lt;0, 001).Importance of nuchal fold thickness above 6mm (p&lt;0, 001) and shorter femoral bone marker in period from 14th to 22nd GW in prediction of Down syndrome and other chromosomal aberrations are proofed (p&lt;0, 001). Hypothesses that frontal thalamic distance improve ultrasound screening sensitivity was proofed was proofed (p&lt;0, 001) since it is significantly shorter in Down syndrome and other chromosomal aberrations in comparison with fetuses with normal karyotypes. Comparative analyses of frontothalamic distance, nuchal fold thickness and femoral bone length in period from 14th to 22nd GW can signifi cantly improve prenatal diagnostic testing in Down syndrome prediction. Correlation between frontothalamic distance and nuchal fold thickness improve ultrasound screening sensitivity on 93% that is proofed with multifactorial logistic regressive analyses. Significance of multidisciplinary approach is high in Down syndrome prediction. Cost-benefit: High sensitivity of non invasive prenatal screening in Down syndrome prediction reduces costs for families and government since it costs ten time less than cytogenetic analyses and risk with invasive procedures is avoided.</p>

The focus of this diploma thesis is on mosaic numerical and structural chromosomal aberrations. In its theoretical part, general problems of mosaicism, its phenotypic effect, mechanisms of origin, related epigenetic modifications, and diagnostic options are described. The methodical part of the thesis then primarily refers to fluorescence in situ hybridization (FISH) and its application in the diagnostics of mosaicism. This method was used in the examination of 29 patients with numerical as well as structural abnormalities of autosomes or gonosomes with proven or suspected mosaicism. On the basis of this analysis, possible errors of measurement were determined and data for statistic evaluation were retrieved. For the examinations of three patients an alternative of the comparative genomic hybridization, the array CGH technique, was applied. The FISH method, although being based on random selection and human factor, proved sufficient sensitivity as well as specificity in the field of low-frequency mosaicism diagnostics. The main critical factors responsible for potential misinterpretation of the data arose from inherent characteristics of the biological material, incorrect targeting of the analysis, probe instability, bleed through effect and absence of mitosis during the structural aberrations analysis.

Objetivos: Descrever a frequência, e investigar fatores preditivos, de óbito fetal espontâneo (OF), em gestações com anomalias cromossômicas. Métodos: Trata-se de estudo retrospectivo, abrangendo o período de novembro de 2004 a maio de 2012, realizado na Clínica Obstétrica do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo. Foram incluídas gestações únicas com diagnóstico pré-natal de trissomia dos cromossomos 21 (T21), 18, 13 (T13/18) e monossomia do X (45X), realizado até a 26ª semana de gestação. Resultados: Foram incluídas 92 gestantes com idade materna média de 32,7 ± 8,7 anos. O diagnóstico das anomalias cromossômicas (T21 n=36, T13/T18 n=25, 45X n=31) foi realizado em idade gestacional média de 18,3 ± 3,7 semanas, por meio de biópsia de vilo corial (n=22, 24%), amniocentese (n=66, 72%) e cordocentese (n=4, 4%). Malformação major estava presente em 45 (49%); e hidropisia foi identificada em 32 (35%) fetos, sendo mais frequente no grupo 45X (n=24/31 (77%) versus T21: n=6/36 (17%) e T13/18: n=2/25 (8%), p < 0,001). Exame ecocardiográfico fetal especializado foi realizado em 60% (55/92) das gestações. Dessas, 60% (33/55) apresentaram alterações na morfologia e/ou função cardíaca, sendo o achado mais frequente a comunicação interventricular (39%). Fetos com T13/18 apresentaram incidência maior de anomalias cardíacas (60% versus 25% (T21) e 29% (45X), p= 0,01). Óbito fetal ocorreu em 55 (60%) gestações e foi mais frequente no grupo 45X (n=26/31 (84%) versus T21: n=13/36 (36%) e T13/18: n=16/25 (64%), p < 0,01). A análise multivariada stepwise demonstrou associação entre hidropisia e OF em fetos com trissomia 21 (LR= 4,29; IC95%= 1,9-8,0, p< 0,0001). Em fetos com monossomia X, a presença de alterações ecocardiográficas esteve associada com menor risco de OF (LR= 0,56; IC95% = 0,27-0,85, p= 0,005). Não foram identificados fatores preditores no grupo T13/18. Conclusão: A letalidade intrauterina de fetos com anomalias cromossômicas é elevada. A presença de hidropisia aumenta o risco de óbito fetal, em gestações com trissomia 21. Enquanto, em gestações com monossomia X, a ocorrência de alterações ecocardiográficas reduz esse risco / Objectives: To describe the frequency, and associated factors, of intrauterine fetal death (IUD), in pregnancies with chromosomal abnormality. Methods: This was a retrospective (November 2004 to May 2012) performed at de department of obstetrics, Hospital das Clínicas, São Paulo University Medical School. Inclusion criteria were: singleton pregnancies with prenatal diagnosis of trisomy 21 (T21), 18, 13 (T13/18) and X monosomy (45X), performed up to 26 weeks gestation. Results: 92 women were included in the study with a mean maternal age of 32.7 ± 8.7 years. Fetal chromosomal abnormalities (T21 n=36, T13/T18 n=25, 45X n=31) were diagnosed at a mean gestational age of 18.3 ± 3.7 weeks, by chorionic villus sampling (n=22, 24%), amniocentesis (n=66, 72%) and cordocentesis (n=4, 4%). Major fetal structural abnormality was present in 45 (49%) cases; hydrops was diagnosed in 32 (35%) fetuses, and was more common in 45X group (n=24/31 (77%) versus T21: n=6/36 (17%) and T13/18: n=2/25 (8%), p < 0.001). Specialist fetal echocardiography was performed in 55 (60%) pregnancies and showed structural and/or functional abnormalities in 33 (60%) fetuses; ventricular septal defect was the most common finding (39%). T13/18 fetuses showed a higher incidence of cardiac abnormalities (60% versus 25% (T21) and 29% (45X), p= 0.01). IUD occurred in 55 (60%) pregnancies and was more common in 45X group (n=26/31 (84%) versus T21: n=13/36 (36%) and T13/18: n=16/25 (64%), p < 0.01). Stepwise logistic regression analysis demonstrated an association between hydrops and IUD in T21 pregnancies (LR= 4.29; 95%CI= 1.9-8.0, p < 0.0001). In 45X pregnancies, cardiac abnormalities were associated with a lower risk of IUD (LR= 0.56; 95%CI = 0.27-0.85, p= 0.005). No predictors of IUD were identified in T13/18 group. Conclusion: Intrauterine death rate is high in pregnancies with a fetal chromosomal abnormality. Presence of hydrops increases the risk of this complication in trisomy 21 fetuses. Whereas the presence of a cardiac abnormality is protective in X monosomy pregnancies

Objetivo: Comparar o comprimento do úmero em fetos portadores de síndrome de Down (T21) com o comprimento do úmero em fetos normais, utilizando instrumentos de referência da população local. Método: Estudo caso-controle retrospectivo que comparou o comprimento do úmero de fetos normais com os fetos com T21, entre 18 semanas e 23 semanas e 6 dias. Os exames dos fetos com T21 foram realizados entre 1994 e 2012. Os controles normais foram avaliados entre 2007 e 2009. Foram analisadas as médias, medianas e desvios-padrão da idade materna, idade gestacional e medida do úmero. Posteriormente, foi feita análise da correlação entre as medidas dos úmeros e a idade gestacional, sendo seus valores expressos em múltiplos da mediana (MoMs). O comprimento do úmero dos fetos com T21 foram confrontados com os fetos normais utilizando o teste t-Student. A medida do úmero foi avaliada considerando-se os níveis de corte abaixo do percentil 10, 5 e 2,5 a fim de obter as respectivas taxas de sensibilidade. Calculou-se, ainda, a razão de verossimilhança (RV). A seguir, foi utilizado um modelo linear geral tendo a idade materna como covariável para controlar na comparação. Comparou-se, também, a medida do comprimento do úmero dos fetos normais da população local com o comprimento do úmero esperado baseado na curva de Jeanty. Os testes foram realizados com nível de significância de 5%. Resultados: Foram incluídos 58 casos com T21 e 1888 controles normais. A sensibilidade do comprimento do úmero para a detecção da T21 utilizando o nível de corte abaixo do percentil 10 foi de 44,8 % com RV de 4,4, abaixo do percentil 5 foi de 34,4 % com RV de 6,9 e abaixo do percentil 2,5 foi de 31,0 % com RV de 12. O valor médio dos úmeros, em MoMs, de fetos com T21 é estatisticamente inferior ao dos fetos normais (p < 0,001), utilizando o teste t-Student. Quando controlada a idade materna na comparação entre os grupos, a diferença permaneceu estatisticamente significativa (p < 0,001). Fez-se uma análise para comparar o comprimento do úmero nos fetos normais da população local com o comprimento do úmero esperado para a curva de Jeanty, e viu-se que os fetos normais locais têm comprimento do úmero estatisticamente significante menor. Conclusões: Existe diferença estatisticamente significante entre o comprimento do úmero de fetos normais e de fetos com T21 na população local (p < 0,001). A sensibilidade para detecção de T21 foi de 44,8%, 34,4% e 31%, para o úmero abaixo do percentil 10, 5 e 2,5, respectivamente. A curva de Jeanty não tem rendimento adequado para uso como controle do crescimento umeral em fetos normais locais, acarretando com seu uso o inevitável aumento da taxa de falsos positivos de úmeros curtos / Objective: This study aimed to compare the humeral length (HL) in fetuses with Down syndrome (T21) with HL in normal fetuses, by using instruments of reference of the local population. Method: A case-control study was conducted comparing HL in normal fetuses with HL in fetuses with T21, aged between 18 weeks and 23 weeks and 6 days. Fetuses with T21 who were examined between 1994 and 2012 were included. The normal controls were evaluated between 2007 and 2009. The averages, medians, and standard deviations were obtained for maternal age, gestational age, and HL. Afterwards, we analyzed the correlation between the HL and the gestational age, with values expressed as multiples of the median (MoMs). The HLs of fetuses with T21 were compared with the HLs in normal fetuses by using Student\'s t-test. The humeri were evaluated considering the cut-off levels below the 10th, 5th, and 2,5th percentiles to obtain the sensitivity. The likelihood ratios (LR) were also calculated. Next, a general linear model was used with maternal age as a covariate to control for comparison of the groups. Comparison was also made between the HL of fetuses in the local population and the expected HL, based on the Jeanty curve. The tests were performed with a significance level of 5%. Results: The study included 58 cases with T21 and 1888 normal controls. The sensitivity of the HL to detect T21 by using a cut-off level below the 10th percentile was 44.8% with a LR of 4.4; below the 5th percentile, the sensitivity was 34.4% with a LR of 6.9; and below the 2.5th percentile, the sensitivity was 31.0% with a LR of 12. The average value of the humerus, in MoMs, of fetuses with T21 is statistically lower than that of normal fetuses (p < 0.001), as measured by using Student\'s t-test. When maternal age was controlled as a covariant in the comparison between groups, the difference remained statistically significant (p < 0.001). An analysis to compare the HL in normal fetuses of the local population with expected HL based on the Jeanty curve concluded that the HL in normal fetuses of the local population is lower than expected. Conclusions: There is a statistically significant difference between the HL of normal fetuses and HL of fetuses with T21 in the local population (p < 0.001). The sensitivity for detection of T21 was 44.8%, 34.4%, and 31% for the humerus below the 10th, 5th and 2.5th percentile, respectively. The Jeanty curve is not adequate to use as growth control for humeri in local normal fetuses, as its use leads to an increase in false positive rates when measuring the proportion of short humeri