Every mother and child has the right to survive childbirth which requires skilled birth attendants together with referral and available emergency obstetric care (EmOC). The objective of the study was to describe delivery care routines at different levels in the health care system in Quang Ninh province, Northern Vietnam. The design was cross sectional using a structured questionnaire. Two districts in Quang Ninh province with 40 Community Health Centres (CHC), three district hospitals and one region hospital was included in the study, in total 138 (CHC n=105 and hospitals n=33) health care providers participated. In our study 20% (CHC) of the health care providers assisting deliveries at CHC were midwives and health care provider’s in our study further report to have assisted at less then 10 deliveries/year (81% of respondents at CHC). Findings show that the health care provider’s routines and care for women during labour and delivery vary and that there is a need for re-training and that women in labour should be cared for by health care providers with adequate training like midwifery. In our study CHC had poor resources to provide basic or comprehensive EmOC. Our findings indicate that there is a need for re-training in delivery care among health care providers and since the number of deliveries at CHC is few they should be handled by someone who is a skilled birth attendant. Our findings also show a variation in care routines during labour and delivery among health care providers at CHC and hospital levels and this also show the need for re-training and support from proper authorities in order to improve maternal and newborn health.

Este estudo descritivo, com abordagem qualitativa, teve como objetivo compreender como se dá a assistência do enfermeiro obstetra/obstetriz à mulher imigrante, durante o trabalho de parto e parto. Para obtenção dos dados, foram realizadas entrevistas com 11 enfermeiras obstetras/obstetrizes que tiveram a experiência de assistir mulheres imigrantes, durante o trabalho de parto e parto. Para o tratamento dos dados, foi utilizado o método de análise temática proposto por Bardin, utilizando o referencial da Teoria da Transculturalidade de Leininger, e foi possível obter três temas principais: o primeiro abordou a experiência ao realizar a assistência às mulheres imigrantes, trazendo os sentimentos vivenciados pelas enfermeiras obstetras/obstetrizes nessa experiência; o segundo, as dificuldades encontradas, com categorias relacionadas à linguagem e à cultura e o terceiro sobre os meios encontrados para facilitar a assistência às mulheres imigrantes. Neste estudo, os profissionais que atenderam a mulheres imigrantes relataram dificuldades principalmente relacionadas às barreiras linguísticas e culturais. Indicaram que perceber que a assistência às mulheres imigrantes é diferente é o primeiro passo para o cuidado transcultural. Apontaram que admitir a existência de dificuldades e considerá-las como um obstáculo que necessita ser enfrentado, fazendo com que essa experiência se torne positiva tanto para o profissional quanto para a mulher que está sendo atendida, é importante para que a assistência se torne cada vez melhor. É necessário um maior conhecimento sobre essa população para a adaptação da assistência às especificidades culturais, e o enfermeiro obstetra/obstetriz deve ser sensível a essas diferenças e adaptar seu cuidado. Os dados obtidos neste estudo podem oferecer subsídios para a implementação de ações no âmbito do atendimento às mulheres imigrantes, envolvendo os profissionais de saúde, as instituições de saúde e a população imigrante / This descriptive study, which takes a qualitative approach, sought to understand the workings of assistance given by obstetrics nurse/midwifes to immigrant women during labor and delivery. To obtain this data, interviews were carried out with 11 obstetrics nurses/obstetricians with experience assisting immigrant women during labor and delivery. Interpretation of this data was done via the thematic analysis method proposed by Bardin and by utilizing Leininger\'s Transcultural Theory, which allowed us to find three main themes: the first touches on the experience of carrying out assistance to immigrant women and concerns the sentiments felt by the obstetrics nurses/midwifes during this experience; the second, the challenges faced, with categories related to language and culture; and third, the ways that were found to facilitate assistance to immigrant women. In this study, the professionals that served immigrant women noted difficulties related primarily to language and cultural barriers. They noted that the perception that there is a difference when assisting immigrant women is the first step in transcultural care. They noted that admitting the existence of difficulties and considering these as obstacles that need to be overcome - turning the experience into something positive for both the professionals and the women being cared for - are important for continuously improving care. It is necessary to have a better understanding of this population to adapt assistance to specific cultures, and the obstetrics nurse/midwifes should be sensitive to these differences and adapt care accordingly. The data obtained in this study can offer support for the implementation of activities to serve immigrant women, involving health professionals, health institutions, and the immigrant population

Este estudo descritivo, com abordagem qualitativa, teve como objetivo compreender como se dá a assistência do enfermeiro obstetra/obstetriz à mulher imigrante, durante o trabalho de parto e parto. Para obtenção dos dados, foram realizadas entrevistas com 11 enfermeiras obstetras/obstetrizes que tiveram a experiência de assistir mulheres imigrantes, durante o trabalho de parto e parto. Para o tratamento dos dados, foi utilizado o método de análise temática proposto por Bardin, utilizando o referencial da Teoria da Transculturalidade de Leininger, e foi possível obter três temas principais: o primeiro abordou a experiência ao realizar a assistência às mulheres imigrantes, trazendo os sentimentos vivenciados pelas enfermeiras obstetras/obstetrizes nessa experiência; o segundo, as dificuldades encontradas, com categorias relacionadas à linguagem e à cultura e o terceiro sobre os meios encontrados para facilitar a assistência às mulheres imigrantes. Neste estudo, os profissionais que atenderam a mulheres imigrantes relataram dificuldades principalmente relacionadas às barreiras linguísticas e culturais. Indicaram que perceber que a assistência às mulheres imigrantes é diferente é o primeiro passo para o cuidado transcultural. Apontaram que admitir a existência de dificuldades e considerá-las como um obstáculo que necessita ser enfrentado, fazendo com que essa experiência se torne positiva tanto para o profissional quanto para a mulher que está sendo atendida, é importante para que a assistência se torne cada vez melhor. É necessário um maior conhecimento sobre essa população para a adaptação da assistência às especificidades culturais, e o enfermeiro obstetra/obstetriz deve ser sensível a essas diferenças e adaptar seu cuidado. Os dados obtidos neste estudo podem oferecer subsídios para a implementação de ações no âmbito do atendimento às mulheres imigrantes, envolvendo os profissionais de saúde, as instituições de saúde e a população imigrante / This descriptive study, which takes a qualitative approach, sought to understand the workings of assistance given by obstetrics nurse/midwifes to immigrant women during labor and delivery. To obtain this data, interviews were carried out with 11 obstetrics nurses/obstetricians with experience assisting immigrant women during labor and delivery. Interpretation of this data was done via the thematic analysis method proposed by Bardin and by utilizing Leininger\'s Transcultural Theory, which allowed us to find three main themes: the first touches on the experience of carrying out assistance to immigrant women and concerns the sentiments felt by the obstetrics nurses/midwifes during this experience; the second, the challenges faced, with categories related to language and culture; and third, the ways that were found to facilitate assistance to immigrant women. In this study, the professionals that served immigrant women noted difficulties related primarily to language and cultural barriers. They noted that the perception that there is a difference when assisting immigrant women is the first step in transcultural care. They noted that admitting the existence of difficulties and considering these as obstacles that need to be overcome - turning the experience into something positive for both the professionals and the women being cared for - are important for continuously improving care. It is necessary to have a better understanding of this population to adapt assistance to specific cultures, and the obstetrics nurse/midwifes should be sensitive to these differences and adapt care accordingly. The data obtained in this study can offer support for the implementation of activities to serve immigrant women, involving health professionals, health institutions, and the immigrant population

Uganda currently hosts 1.4 million refugees and conflict-affected people. Known as the “best place” in Africa to be a refugee, Uganda’s policies encourage self-sufficiency and local integration. However, many refugees, particularly women and girls, face persistent challenges. Understanding the reproductive health needs of this population and exploring the accessibility of services for conflict-affected populations in this low-income host country is a priority. This multi-methods study aimed to assess the reproductive health needs of displaced Congolese women in camp- and urban-based settings in Uganda. We interviewed key informants, facilitated focus group discussions with refugee women, and conducted in-depth interviews with Congolese women of reproductive age to better understand knowledge, attitudes, practices, and services. Our results suggest that Congolese refugees have significant unmet reproductive health needs. Maternal health and delivery care is characterized by insufficient human resources, inconsistent medication availability, discrimination, bribery, and communications challenges. The availability of contraceptive products, including emergency contraception, is limited in camp-based settings due to supply-chain management challenges and theft by staff; lack of contraceptive knowledge among Congolese refugees shapes use. Finally, the legal restrictions on abortion lead to unsafe practices among refugees and pose a barrier to the provision of post-abortion care. This study provides insight for opportunities to improve the delivery of sexual and reproductive health services to refugees in Uganda to ensure that the infrastructure and processes align with national policies and international guidelines.

Background:Today 99% of Sweden's pregnant women give birth at labour wards assisted by a midwife, only 0.1 % give birth at home. In Sweden, delivery care is currently burdened due to lack of delivery rooms and shortage of staff. If pregnant women do not receive the right support and care of a present midwife the risk of a more negative childbirth experience increases.Aim: The aim of this study was to describe pregnant women's expectations of delivery care.Method:A qualitative interview study was conducted with seven informants. A qualitative content analysis was used with an inductive approach. The analyze resulted in sixteen subcategories and four categories. Result:The results of the study showed that the informants expected that there was a lack of delivery rooms and that reffering in delivery care occurs. However, it appeared that they did not expect it to happen to themselves. The informants expected the staff to be competent, be able to guide the woman and provide security during childbirth. The informants' expectations were mostly based on experiences which could be both positive and negative. They had also received expectations about delivery care from media, local newspapers, Facebook and blogs. There was also an expectation that the organization is under pressure. The effect of this is staff shortages and stressful working conditions for the midwives. Despite this, the informants expected that they would receive good delivery care. Conclusion:Stressful and unexpected events can be experienced more manageable if pregnant women feel secure. It is therefore of value that midwives in maternity care and in maternity wards create realistic expectations of delivery care to minimize concerns. / Bakgrund: Av Sveriges gravida kvinnor föder 99 % idag barn på förlossningsavdelningar assisterade av en barnmorska, endast 0.1% föder i hemmet. Förlossningsvården i Sverige idag är belastad på grund av plats- och personalbrist. Om gravida kvinnor inte får rätt stöd och vård av en närvarande barnmorska ökar riskerna för dåliga förlossningsupplevelser.Syfte: Syftet var att beskriva gravida kvinnors förväntningar på förlossningsvården.Metod: En kvalitativ intervjustudie genomfördes med sju informanter. Den dataanalys som användes var en kvalitativ innehållsanalys med induktiv ansats. Sexton subkategorier och fyra kategorier analyserades fram.Resultat: Studiens resultat visade att informanterna förväntade sig att det förekommer platsbrist och hänvisningar inom förlossningsvården. Det framkom dock att de inte förväntade sig att det skulle hända dem själva. Informanterna förväntade sig av personalen att de skulle vara kompetenta, kunna guida kvinnan samt inge trygghet under förlossningen. Informanternas förväntningar grundades mestadels på tidigare erfarenheter vilka kunde både vara positiva och negativa. De hade också fått förväntningar kring förlossningsvården av media, lokaltidningar, Facebook och bloggar. Det framkom även en förväntan att organisationen brister inom förlossningsvården, vilket gjort att personalbrist och stressiga arbetsförhållanden föreligger för barnmorskorna. Trots detta var förväntningarna att de skulle få en bra förlossningsvård.Slutsats:Stressfulla och oväntade händelser kan upplevas mer hanterbara om gravida kvinnor känner trygghet. Det vore därför av värde om barnmorskor i mödrahälsovården och på förlossningkliniker skapar realistiska förväntningar på förlossningsvården hos gravida kvinnor för att minimera oro.

Globally, neonatal mortality has remained basically unchanged for the last three to four decades and every year almost four million newborns die before reaching one month of age. This persistent mortality is related to an invisibility of the newborn child in policies and statistics and a neglect of health care decision-makers, planners and practitioners to deliver a perinatal continuum of care. In recent years attention has however been brought to the unchanged neonatal mortality in an effort to improve survival. The present thesis seeks to increase understanding of obstacles for better neonatal survival. The studies performed are undertaken as sub-studies to the NeoKIP project in Quang Ninh province in northern Vietnam, a randomized controlled trial of knowledge implementation for improved neonatal survival (Neonatal Health – Knowledge Into Practice, ISRCTN 44599712). In the first paper we investigated and discussed the scope of invisibility of neonatal mortality through measuring the accuracy of official statistics on neonatal deaths. The second paper reports an inquiry of determinants of neonatal mortality by use of a population-based case-referent design. Paper III and IV analyse delivery care utilization and care seeking patterns prior to and at delivery using narratives and GIS technique. There was a substantial under-reporting of neonatal mortality in the official statistics, with study results showing a four times higher neonatal mortality rate in Quang Ninh province than reported to the Ministry of Health. This neonatal mortality rate of 16/1000 live births (as compared to 4.2/1000 in official reports) was unevenly distributed in the province, showing large geographical discrepancies. In the rural and remote areas of Vietnam education level is lower and the concentrations of ethnic minorities and poor households are higher. Ethnic minority belonging was associated with a more than doubled risk of neonatal death compared to the hegemonic group of Kinh (OR 2.08 CI 95 % 1.39 – 3.10). This increased risk was independent of household economic status or maternal education level. Neonatal mortality was also associated with home deliveries, non-attendance to antenatal care and distance to the health care facilities. However, ethnic minority mothers still had an increased risk of experiencing a neonatal death even if they attended antenatal care, delivered at or lived close to a health facility. The invisibility of the neonatal period in health information systems hides the true width of the neonatal mortality challenge. By not acknowledging the problem, the marginalization of already disadvantaged groups continues, leaving ethnic minority babies with an elevated risk of dying during the first month in life. This example of ethnic inequity highlights the importance to target those most in need. The studies of the present thesis should therefore be looked upon as a contribution to the struggle to illuminate the global burden of neonatal mortality.

Background. Pregnant women need adequate antenatal care (ANC) and delivery care fortheir own health and for healthy children. Availability of such care has increased in Vietnam but maternal mortality remains high and variable between population groups. Aims. The general aim of this thesis is to describe and discuss the use of antenatal and delivery care in relation to demographic and socio-economic status and other factors in two health and demographic surveillance sites (HDSS), one rural and one urban. One specificaim of the thesis is to present experiences of running the urban HDSS. Methods. Between April 2008 and December 2009, 2,757 pregnant women were identifiedin the sites. Basic information was obtained from 2,515 of these. The use of ANC was followed to delivery for 2,132. Three indicators were used. ANC was considered overall adequate if the women started ANC within the first trimester, used three or more visits and received all the six recommended core services at least once during pregnancy. Delivery care was studied for all the 2,515 women. Main Findings. Nearly all 2,132 participants used ANC. The mean numbers of visits were 4.4 and 7.7 in the rural and urban areas. Mainly due to less than recommended use of core ANC services, overall ANC adequacy was low in some groups, particularly in the rural area (15.2%). The main risk factors for not having adequate ANC were (i) living in a rural area,(ii) low level of education, (iii) low economic status and (iv) exclusive use of private ANC providers. Rural women accessed ANC mainly at commune health centers and private clinics. Urban women accessed ANC and gave birth at central hospitals and provincial hospitals. Caesarean section (CS) was common among urban women (38.5%). Good socioeconomic condition and male babies were associated with delivery in hospitals and CS births. Almost all women had one or more antenatal ultrasound examination, the mean was about 4.5. Rural women spent 3.0% and 19.0% of the reported annual household income percapita for ANC and delivery care, respectively, compared to 6.1% and 20.6% for urbanwomen. The relative economic burden was heaviest for poor rural women. Conclusion. The coverage of ANC was high in both contexts but with large variations between population subgroups. The major concerns are that poor women in the rural area received incomplete services according to recommendations and that many women, particularly the well-off, in the urban area appeared to overuse technology, ultrasound scanning, delivery in highlevel health care and CS delivery. National maternal healthcare programs should focus on improving ANC service content in rural areas and controlling technology preference in urban. The pregnant women with relatives and friends as well as ANC providers share the responsibility for a positive development. All parties involved must be targeted to improve knowledge, attitudes and practices.

Bakgrund: Alla människor har rätt till sjukvård på lika villkor, trots detta förekommer diskriminering och vården är inte jämlik för alla. Både personal och patienter kan utsättas för olika typer av diskriminering. Kvinnor som har negativa vårderfarenheter avvaktar med att söka vård på grund av rädsla för att bli diskriminerade.  Syfte: Studiens syfte var att belysa barnmorskors erfarenheter av diskriminering i förlossningsvården. Metod: Datainsamlingen utfördes genom tre fokusgrupper med elva barnmorskor. En kvalitativ innehållsanalys med en induktiv ansats valdes som analysmetod. Resultat: Resultatet frambringade tre huvudkategorier med tre underkategorier vardera: erfarenheter av kommunikationssvårigheter, erfarenheter av omedveten diskriminering och verksamhetens begränsningar. Studiens resultat visade att bristande kommunikation var en anledning till att födande kvinnor utsätts för diskriminering. Det kan leda till minskad delaktighet samt att de födande inte får det stöd de behöver. Det framkommer att det finns en vilja hos barnmorskorna att inte diskriminera men det kan vara svårt att urskilja vilka beteenden som uppfattas diskriminerande. Strukturella och organisatoriska faktorer möjliggjorde diskriminering och ansågs vara svåra att påverka för barnmorskorna.  Slutsats: Genom att medvetandegöra och diskutera diskrimineringsgrunder på barnmorskornas arbetsplats skulle förutsättningar kunna skapas för att minska diskrimineringen både gentemot barnmorskor och patienter. Att ge varje födande tillgång till en egen närvarande barnmorska skulle kunna skapa rätt förutsättningar för en vård utan diskriminering. / Background: Everyone has the same rights to health care on equal terms, despite this, discrimination exist and the health care is not equal for everyone. Both health-care providers and patients can be exposed to different types of discrimination. Women who have negative care experiences are hesitant to seek care due to fear of being discriminated. Purpose: The aim of the study was to illustrate midwives’ experiences of discrimination in delivery care.    Method: The data collection took place through three focus groups with 11 midwives. A qualitative content analysis with an inductive approach was used as an analytical method which resulted in three main categories with three subcategories each.  Result: The result produced three main categories with three subcategories each: experiences of communication difficulties, experiences of unconsious discrimination and limitations at the delivery care. The study's result showed that lack of communication was one reason why the women giving birth were discriminated against. This can lead to reduced participation and that the mothers do not receive the support they need. It appears that there is a will among the midwives not to discriminate, but it can be difficult to distinguish which behaviors are perceived as discriminatory. Also, structural and organizational factors enabled discrimination and were considered difficult to influence for midwives. Conclusion: By raising awareness and discussing grounds for discrimination in the midwife's workplace, conditions could be created to reduce discrimination against both midwives and patients. Through allowing each mother to have access to her own present midwife could give the oppurtunity to create the right conditions for care without discrimination.

The objectives of this study are to provide a comprehensive assessment of inequalities in infant and under-five years' child survival, access to and utilisations of child health services among different socio-economic groups in Ethiopia; and identify issues for policies and programmes at national and sub-national levels. This thesis examines the effect of parental socioeconomic status, maternal and delivery care services, mothers' bio-demographic and background characteristics on the level of differences in infant and under-five years' child survival and access to and utilisation of child health services. Descriptive and multivariate analyses were carried out for selected variables in the literature which were consider as the major determinants of infant mortality rate (IMR) and under-five years' child mortality rate (U5MR); access to and utilisations of child health services based on data from Ethiopian demographic and health survey (EDHS), covering the years 2000-2005. In the multivariate analysis a logit regression model was used to estimates inequalities in infant and under-five years' child survival, and inequalities in access to and utilisation of child health services. In Ethiopia, little was known about inequalities in IMR and U5MR, and inequalities in access to and utilisation of child health services. Besides, there is no systematic analysis of health inequalities and into its determinants using logistic regression. According to the available literature, this is the first comprehensive and systematic analysis of inequality of health in Ethiopia. The findings show that compared to under-five years' children of mothers' partners with no work, mothers' partners in professional, technical and managerial occupations had 13 times more chance of under-five years child survival for 2000 weighted observations. In addition, compared to infants of mothers who were gave birth to one child in last 5 years preceding the survey, infants of mothers who were gave birth to 2 children in last 5 years preceding the survey had 70% less chance of infant survival while infants of mothers who were gave birth to 3 or more children had 89% less chance of infant survival for 2000 weighted observations. Moreover, this study finding also indicates that inequalities increased significantly in the five years period between 2000 and 2005 among mothers with different birth interval. Most of the relations between birth interval and receiving childhood immunisation for vaccine-preventable diseases were statistically significant. Moreover compared to non-educated mothers, mothers who completed secondary and higher education were nearly 10 times more likely to receive DPT3 immunisation for their young children. This study concludes that policy measures that tackle health inequalities will have a positive impact in the implementation of health sector strategy of Ethiopia. Health inequalities studies in Ethiopia and Sub-Saharan Africa (SSA) countries should focus on systematic analysis of different socio-economic groups. The finding of this study support investing in the Ethiopia's health extension package (HEP) is a necessary but not sufficient condition for addressing rural poor health problem. HEP is successful in increasing primary health care coverage in rural Ethiopia to 89.6% (FMOH, 2009) but unable to reduce Ethiopia's higher level of IMR and U5MR. HEP is one of the success stories that address the rural poor health problem and can also be adapted to developing countries of SSA. The finding also shows that the success stories such as health insurance programs like Rwanda (World Bank, 2008a) and Ethiopia (FMOH, 2009/10) will play a key role in achieving country's health care financing goal of universal coverage. This can also be replicated in the developing SSA countries.

Made available in DSpace on 2016-08-19T18:16:06Z (GMT). No. of bitstreams: 1 Dissertacao Maria Juliana.pdf: 1730875 bytes, checksum: bb81b2862c7cfd5a83d783a11b1172e9 (MD5) Previous issue date: 2012-06-04 / INTRODUCTION: Intellectual disability (ID) occurs in 2-3% of the population and it has a heterogeneous etiology (genetic, environmental or multifactorial). The diagnosis of DI requires use of validated instruments, unavailable for children younger than 5 years, for which reserves the term global developmental delay (GDD). It is essential specialized assessment to the people with GDD /ID, isolated or syndromic, as well as to obtain a detailed overview of factors that may be associated with its onset. OBJECTIVES: To analyze cases of GDD / ID in children and adolescents who attended APAE St. Louis describing the sociodemographic characteristics, conditions of pregnancy, childbirth, the newborn, the clinical evolution and monitoring. METHODS: A quantitative cross-sectional descriptive study. It was collected primary data of 156 patients evaluated at the Medical Genetics Service from this institution in December 2009 to December 2010, and used Windows Microsoft Office Excel 2008 for tabulation and Epi Info 3.5.1 to calculate simple frequencies. RESULTS: It were observed: mean age 36 months, the ratio between males and females of 1.2:1; journal to offset the capital, 20% of cases; parental consanguinity in 4.5%, similar cases in the family 7 %. The mothers, mostly had between 20 and 34 years old, exclusively home occupation, with at least primary education and until two pregnancies. Pregnancy: begun antenatal care until the third month in 63.5% (only 11% in the first month), 14% ethanol exposure, the majority denies exposure to tobacco or drugs inappropriate for pregnancy; and in 60% were referred some eventful; 17.3%, antenatal diagnosis of congenital malformations or infections. Delivery: 88.5% in hospital, 72% at term and 21.8% preterm, 54.5% in vaginal delivery and cesarean section in 35.3%, 86% in cephalic presentation. Conditions of newborns: 39% had hypoxia suspicion, 46.8% required ICU admission, and 44.5% had been hospitalized for more than eight days. Anomalies of the central nervous system (CNS) were found in 61.5%, including those that could be observed by simply measuring head circumference - microcephaly (50%), macrocephaly (5%). Most had no access to basic exams to diagnostic investigation (CNS imaging, karyotype, hearing and vision assessment). CONCLUSIONS: Reiterate the lack of studies on the subject, the inequity of access to diagnosis and treatment, the need for qualification of antenatal and childbirth care, and of the implementation in fact of the Integral Attention National Policy on Clinical Genetics. / INTRODUÇÃO: A deficiência intelectual (DI) ocorre em 2 a 3% da população e tem etiologia heterogênea (genética, ambiental ou multifatorial). O diagnóstico de DI requer uso de instrumentos validados, indisponíveis para crianças com idade inferior a 5 anos, para os quais reserva-se o termo atraso global do desenvolvimento (AGD). É imprescindível a avaliação especializada das pessoas com AGD/DI, isolado ou sindrômico, bem como a obtenção de um panorama detalhado dos fatores que possam se associar ao seu aparecimento. OBJETIVOS: Analisar os casos de AGD/DI em crianças e adolescentes que frequentaram a APAE São Luís descrevendo as características sociodemográficas, as condições da gestação, do parto, do recém-nascido, da evolução clínica e do acompanhamento. METODOLOGIA: Estudo quantitativo descritivo do tipo transversal. Foi realizada coleta de dados primários dos 156 pacientes atendidos no serviço de Genética Médica desta instituição em dezembro de 2009 a dezembro de 2010 e, utilizados Windows Excel Microsoft Office 2008 para tabulação e Epi Info 3.5.1 para cálculo de frequências simples. RESULTADOS: Foram observados: idade média de 36 meses, razão entre os sexos masculino e feminino de 1,2:1; deslocamento periódico para a capital, em 20% dos casos; consanguinidade parental de 4,5%; casos semelhantes na família em 7%. As mães: maioria entre 20 e 34anos, do lar, com pelo menos o Ensino Fundamental Completo e até duas gestações. Gestação: início do pré-natal até o terceiro mês em 63,5% (só 11% ainda no primeiro mês); 14% de exposição ao etanol, maioria nega exposição ao tabaco ou a fármacos impróprios; em 60%, houve intercorrências; em 17,3%, diagnósticos pré-natais de malformações ou infecções congênitas. Parto: 88,5% em hospital; 72% a termo e 21,8% pré-termos; via vaginal em 54,5% e cesárea em 35,3%; apresentação cefálica em 86%. Condições do recém-nato: 39% tem suspeita de hipóxia; 46,8% necessitaram de internação em UTI e, 44,5% estiveram internados por mais de oito dias. Anomalias do sistema nervoso central (SNC) foram encontradas em 61,5%, incluindo aquelas que puderam ser observadas pelas simples medida de perímetro cefálico - microcefalia (50%), macrocefalia (5%). A maioria não teve acesso aos exames complementares fundamentais à investigação diagnóstica (imagem de SNC, cariótipo, avaliação auditiva e oftalmológica). CONCLUSÕES: Reitera-se a carência de estudos sobre o tema; a iniquidade do acesso ao diagnóstico e ao tratamento; a necessidade de qualificação da assistência ao pré-natal e ao parto e, da implementação de fato da Política Nacional de Atenção Integral em Genética Clínica.