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Le Registre de malformations congénitales d’Alsace constitue l’un des cinq registres de malformations congénitales de France métropolitaine. Membre du réseau européen EUROCAT, il génère un enregistrement continu et exhaustif des malformations congénitales parmi les 23 000 naissances annuelles recensées dans les deux départements d’Alsace (ce qui correspond à approximativement 3% de l’ensemble des naissances en France). Ses objectifs s’inscrivent dans une triple démarche clinique, épidémiologique et de santé publique.Notre étude s’est intéressée à période 1995-2009, marquée par un développement majeur de la médecine foetale et du diagnostic prénatal. La prévalence totale des malformations congénitales est de 3,6% des naissances. Les 6 845 cas enregistrés se répartissent en 80,3% d’enfants nés vivants, 18,7% d’interruptions médicales de grossesse (IMG) et 1% de morts foetales in utero. Les quinze années de l’étude sont marquées par une augmentation progressive du taux global de diagnostic prénatal, de 26,1% en 1995 à 46,5% en 2009. L’étude concernant les fentes oro-faciales le démontre avec un taux passant de 43% en 1995-1999, à 53% en 2000-2004 et 66% en 2005-2009. Cette période voit également évoluer les pratiques médicales avec la création des centres pluridisciplinaires de diagnostic prénatal dont la multidisciplinarité favorise la diffusion du savoir parmi les professionnels pour une meilleure prise en charge des grossesses. / The Registry of congenital malformations of Alsace is one of the five registries of congenital malformations of metropolitan France. As a member of EUROCAT network, it provides a continuous registration for congenital malformations and chromosome abnormatities among the 23,000 annual births recorded in the two departments of Alsace (corresponding to approximately 3% of all births in France).This system is a crucial tool for clinical, epidemiological and public health studies.Our study concerns the 15-year period 1995-2009 period, marked by a major development of fetal medicine and prenatal diagnosis. The total prevalence of congenital malformations is 3.6%. The 6,845 registered cases are divided into 80.3% of livebirths, 18.7% terminations of pregnancy and 1% of stillbirths. The study emphasizes an increasing rate of prenatal diagnosis from 26.1% in 1995 to 46.5% in 2009. The study about orofacial clefts demonstrates these advances in prenatal diagnosis with increasing detection rates from 43% (1995-1999) to 53% (2000-2004) and 66% (2005-2009).This period is also marked by an important evolution in the field of medical practices, including the setting-up of multidisciplinar centres of prenatal diagnosis which contribute to an easier diffusion of knowledge between professionals.

Conselho Nacional de Desenvolvimento CientÃfico e TecnolÃgico / IntroduÃÃo. Dentre as malformaÃÃes, as fissuras labiopalatinas (FLPs) ocupam lugar de destaque, pois sÃo as deformidades craniofaciais de maior prevalÃncia. Classificam-se em: prÃ-forame, transforame, pÃs-forame e as submucosas, podendo diversos fatores estar associados à sua etiologia, tais como uso de drogas, carÃncia de Ãcido fÃlico, sÃfilis, toxoplasmose, radiaÃÃes ionizantes, tabagismo, alcoolismo no inÃcio da gestaÃÃo e os fatores genÃtico-hereditÃrios - os mais importantes. Outra teoria muito aceita à a multifatorial, que envolve a interaÃÃo de fatores genÃticos, ambientais e hereditÃrios. O objetivo do estudo foi determinar as caracterÃsticas epidemiolÃgicas de crianÃas portadoras de FLPs atendidas no Hospital Infantil Albert Sabin, Fortaleza-Ce. MÃtodos. Estudo descritivo de 390 portadores de FLPs atendidos no perÃodo de junho de 2008 a maio de 2009, com crianÃas menores de 12 anos de idade, no ambulatÃrio do NÃcleo de Atendimento Integrado ao Fissurado do Hospital Infantil Albert Sabin, principal hospital de referÃncia do Estado, procedentes de todo o CearÃ. Resultados. Observou-se que 51,3% dos pacientes com FLPs eram do sexo masculino e 48,2% do feminino, dos quais 37,4% foram provenientes da Capital, 62,6% do resto do Estado e 3,1% de outros UFs. O tipo mais prevalente foi a transforame, com 56,3% dos casos, seguida das pÃs-forame, com 21,6%, as prÃ-forame, com 20,3% e as submucosas com 1,8%. As lesÃes predominaram do lado esquerdo, com 43,2%, seguidas pelas bilaterais, com 32,5%. Verificou-se que 72,0% dos pacientes tiveram acesso à realizaÃÃo da queiloplastia. A palatoplastia foi efetuada em 47,2% das crianÃas, sendo que na faixa etÃria prÃ-escolar em somente 20% dos casos. Outros tipos de correÃÃes cirÃrgicas foram realizadas em somente 17,9% dos pesquisados. Outros 35,0% tiveram acesso ao tratamento fonoaudiolÃgico e 15,5% ao ortodÃntico. Encontrou-se ainda um percentual de 11,4% que apresentava algum outro tipo de malformaÃÃo congÃnita e outros 47,3% possuÃam um caso familial de fissura. ConclusÃes. A reduzida proporÃÃo de portadores de FLP com acesso aos tratamentos clÃnico-cirÃrgicos indica a existÃncia de uma carÃncia importante de centros e equipes multiprofissionais especializadas na reabilitaÃÃo destes pacientes. Mesmo com as dificuldades de deslocamento, 60% dos pacientes da pesquisa eram procedentes de municÃpios cearenses, o que sugere uma grande carÃncia deste tipo de atenÃÃo fora da Capital do Estado.

Hypospadias is a congenital malformation that occurs in 0.3-1% of live births, in which the meatus (the urethral opening) is dorsally malpositioned. Uncorrected hypospadias can cause difficulties in urination, abnormal sexual function, and adverse psychological consequences; surgical correction, though generally successful, constitutes an economic burden for families. Several common classes of pesticides have demonstrated potential to disrupt normal endocrine hormones that regulate fetal genitourinary development. Past epidemiologic studies of pesticide exposure and risk of hypospadias have been limited by limited available data, small sample sizes, or poor ascertainment of pesticide exposure. The objective of this study was to examine the relationship between parental occupational pesticide exposure and risk of hypospadias in their offspring; and further, to assess whether addition of residential pesticide exposure data is feasible and contributes to overall pesticide exposure. We began by conducting a meta-analysis of the current literature, in which summary measures of occupation (such as census occupation code) had been used to assign pesticide exposure. We found elevated but marginally significant risks of hypospadias were associated with maternal occupational exposure (PRR of 1.36, CI = 1.04-1.77), and paternal occupational exposure (PRR of 1.19, CI= 1.00-1.41) in the previously published literature. We then used industrial hygienist review of occupational histories to estimate the relationship between pesticide exposure and risk of hypospadias. We found that maternal occupational exposure to any pesticides (yes/no) was not associated with an increased risk of hypospadias (OR = 0.83, 95% CI = 0.6-1.1), cumulative insecticide (OR = 1.09; 95% CI = 0.9- 1.3), herbicide (OR = 1.05; 95% CI = 0.9- 1.2), or fungicide (OR = 0.91; 95% CI = 0.7-1.2) exposure. These negative findings might be explained by a lack of relationship at the low levels of exposure observed in this study population, in which case another farm exposure could be related to hypospadias; or this negative finding may be due to exposure misclassification. Finally, we evaluated the feasibility and relevance of collecting residential pesticide exposure and direct reports of occupational exposure from fathers. Residential pesticide use during the six months prior to pregnancy and during pregnancy was common among control mothers: 45% reported that their home had been treated for insect or rodent pests; 47% reported that their lawn or garden had been treated for weeds or insect pests; 16% used a lawn service; 26% reported that a pet had been treated for fleas, ticks, or mites (including flea and tick preventives); 17% reported community-wide sprayings for pests; and 16% reported that their workplaces were treated for pests. Case mothers were more likely to report that their home had been treated of insect or rodent pests (50%) or that a pet had been treated for fleas, ticks, or mites (36.5%). Our results suggest that collection of information on residential pesticide use is feasible, and the impact of residential pesticide use on birth defects risk should be assessed in future studies.

Pregnancy places great strain upon the body of a woman. Many things contribute to a successful pregnancy, such as healthy eating habits, healthy lifestyle, adequate physical activity, fresh air, good mental health. It is recommended to begin folic acid supplementation even before conception. Folic acid, known as folate, is one of the B vitamins. Pregnancy places greater need for folic acid intake, especially in the early stages, where insufficiency or even deficiency can manifest in a pathological pregnancy, oftentimes fatal. The specific link between the two is not yet very well known. However, several studies have confirmed that there is a positive effect that comes with increased folic acid intake before conception and during the first few weeks of pregnancy, most notably reduced occurrence of neural tube birth defects. General population generally doesn't have adequate intake of folic acid, so there is usually a folic acid deficit before and during pregnancy as well. This can be countered by consuming food high in folate, targeted food enrichment or direct consumption of supplements containing folic acid. The Czech Republic currently doesn't enrich food with folic acid, therefore it is recommended to increase its intake via supplementation. Research investigation through paper questionnaires...

This thesis is focused on folic acid and its preventive effects on human health. Folic acid has many important functions in the human body and is especially important during pregnancy. It is essential for the proper development of the fetus and its adequate intake is the prevention of serious congenital malformations, such as neural tube defects, premature birth, abortion and other pathologies. The increased need for this vitamin is not easy to supplement with a regular diet. It is therefore recommended to take it in the form of food supplements (400-600 µg/day) during pregnancy and at least one month before the planned conception. For these reasons, it is necessary to focus on supporting the primary prevention of folic acid use, preferably in all fertile women. Folic acid also plays a crucial role in hematopoiesis and the main manifestation of its deficiency is megaloblastic anemia. Folic acid is further associated with the prevention of cardiovascular and cancer diseases and influencing the development of cognitive functions. The practical part of this thesis was focused on monitoring the saturation of pregnant women with this vitamin. The work contains a laboratory analysis of the content of the metabolite folic acid 5-methyltetrahydrofolate (5-MTHF) in the urine of pregnant women in order to...

Introdução: Pacientes com mielomeningocele apresentam elevada mortalidade e desenvolvem déficits neurológicos que ocorrem, primariamente, pelo desenvolvimento anormal da medula e de raízes nervosas e, secundariamente, por complicações adquiridas no período pós-natal. O desafio no cuidado desses pacientes é o reconhecimento precoce dos recém-nascidos de risco para evolução desfavorável a fim de estabelecer estratégias terapêuticas individualizadas. Objetivo: Este estudo tem como objetivo identificar marcadores prognósticos de curto prazo para recém-nascidos com mielomeningocele. As características anatômicas do defeito medular e da sua correção neurocirúrgica foram analisadas para esta finalidade. Métodos: Foi realizado um estudo de coorte retrospectiva com 70 pacientes com mielomeningocele em topografia torácica, lombar ou sacral nascidos entre janeiro de 2007 a dezembro de 2013 no Centro Neonatal do Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo. Pacientes com infecção congênita, anomalias cromossômicas e outras malformações maiores não relacionadas à mielomeningocele foram excluídos da análise. As características anatômicas da mielomeningocele e a sua correção neurocirúrgica foram analisadas quanto aos seguintes desfechos: reanimação neonatal, tempo de internação, necessidade de derivação ventricular, deiscência da ferida operatória, infecção da ferida operatória, infecção do sistema nervoso central e sepse. Para a análise bivariada dos desfechos qualitativos com os fatores de interesse foram empregados testes do qui-quadrado e exato de Fisher. Para a análise do desfecho quantitativo, tempo de internação hospitalar, foram empregados testes de Mann-Whitney. Foram estimados os riscos relativos e os respectivos intervalos com 95% de confiança. Foram desenvolvidos modelos de regressão linear múltipla para os desfechos quantitativos e regressão de Poisson para os desfechos qualitativos. Resultados: Durante o período do estudo 12.559 recém-nascidos foram admitidos no Centro Neonatal do Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo. Oitenta pacientes foram diagnosticados com mielomeningocele, com incidência de 6,4 casos para cada 1.000 nascidos vivos. Dez pacientes foram excluídos da análise devido à mielomeningocele em topografia cervical (n = 1), à cardiopatia congênita (n = 4), à trissomia do cromossomo 13 (n = 1), à onfalocele (n = 3) e à encefalocele (n = 1). Ocorreram três óbitos (4,28%). Mielomeningocele extensa foi associada a infecção do sistema nervoso central, a complicação de ferida operatória e a maior tempo de internação hospitalar. Os pacientes com mielomeningocele em topografia torácica apresentaram tempo de internação, em média, 39 dias maior que aqueles com defeito em topografia lombar ou sacral. Houve maior necessidade de reanimação em sala de parto entre os pacientes com macrocrania ao nascer. A correção cirúrgica realizada após 48 horas de vida aumentou em 5,7 vezes o risco de infecção do sistema nervoso central. Entre os pacientes operados nas primeiras 48 horas de vida não foi observado benefício adicional na correção cirúrgica realizada em \"tempo zero\". A ausência de hidrocefalia antenatal foi um marcador de bom prognóstico. Nestes pacientes, a combinação dos desfechos necessidade de derivação ventricular, complicações infecciosas, complicações de ferida operatória e reanimação em sala de parto foi 70% menos frequente. Conclusão: Este estudo permitiu identificar marcadores prognósticos de curto prazo em recém-nascidos com mielomeningocele. Os defeitos medulares extensos e a correção cirúrgica após 48 horas de vida influenciaram negativamente na evolução de curto prazo. As lesões extensas foram associadas a maiores taxas de infecção do sistema nervoso central, a complicações de ferida operatória e a internação hospitalar prolongada. A correção cirúrgica realizada após 48 horas de vida aumentou significativamente a ocorrência de infecção do sistema nervoso central. Ausência de hidrocefalia antenatal foi associada a menor número de complicações nos primeiros dias de vida / Introduction: Patients with myelomeningocele have a high mortality and develop neurological disabilities that occur primarily by a defective spinal cord and nerve root development and, secondarily, by acquired post-natal complications. The challenge in the post-natal management of myelomeningocele is the early recognition of cases at risk for complications in order to establish individualized treatment strategies. Objective: This study aims to identify short-term prognostic markers for newborns with myelomeningocele. Anatomical characteristics of the spinal defect and technical aspects of the neurosurgical repair were analyzed for this purpose. Methods: A retrospective cohort study was conducted in 70 patients with thoracic, lumbar or sacral myelomeningocele born between January 2007 and December 2013 in the Centro Neonatal do Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo. Patients with congenital infection, chromosomal abnormalities and other major malformations unrelated to myelomeningocele were excluded from our analysis. Features of myelomeningocele anatomy and neurosurgical treatment were analyzed for the following outcomes: neonatal resuscitation, length of hospital stay, need for ventricular shunt, wound dehiscence, wound infection, central nervous system infection and sepsis. Relationships between qualitative outcomes and factors of interest were examined using chi-square or Fisher\'s exact tests. The relationships with the quantitative outcome duration of hospital stay were evaluated using the Mann-Whitney tests. Relative risks were estimated with 95% confidence intervals. Multivariate linear regression was used to evaluate the quantitative outcomes and a Poisson regression model was used for the qualitative outcomes. Results: During the study period a total of 12,559 neonates were born in Centro Neonatal do Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo. Eighty patients were diagnosed with myelomeningocele resulting in an incidence of 6.4 cases per 1000 live births. Ten patients were excluded from our analysis due to cervical myelomeningocele (n = 1), congenital heart disease (n = 4), trisomy 13 (n = 1), omphalocele (n = 3) and encephalocele (n = 1). Three deaths were observed in the study period (4,28%). Large myelomeningocele was associated with central nervous system infection, wound complications and longer hospital stay. Patients with thoracic myelomeningocele required longer hospital stay, on average 39 days longer when compared to patients with lumbar or sacral defects. There was a positive correlation between the need for resuscitation at the delivery room and the presence of macrocrania at birth. Late surgical repair performed after 48 hours of life increased in 5.7 times the risk of central nervous system infection. Among patients operated within the first 48 hours, no additional benefit in interventions held in \"time zero\" was observed. Absence of antenatal hydrocephalus was a favorable prognostic marker. In these cases, the combination of need for ventricular drainage, sepsis, central nervous system infection, complications of surgical site and intervention in the delivery room were 70% lower. Conclusion: This study allowed us to identify short-term prognostic markers for newborns with myelomeningocele. Extensive spinal cord defect and surgical repair after 48 hours of life negatively influenced short-term outcomes. Extensive lesions were associated with higher rates of central nervous system infections, surgical wound complications and prolonged hospital stay. Interventions performed 48 hours after birth significantly increased occurrence of central nervous system infections. Absence of antenatal hydrocephalus was associated with fewer complications in the first days of life

Introdução: O impacto inicial do nascimento de uma criança com malformação por vezes é tão grande que os familiares despendem grande quantidade de tempo e energia para atender às primeiras demandas de tratamento e reabilitação da criança, o que faz com que coloquem em segundo plano investigações mais aprofundadas relacionadas à malformação. Justificativa: Conhecer opiniões de familiares de crianças nascidas com fissuras labiopalatinas acerca do tratamento pode contribuir para que se desenvolvam políticas públicas mais inclusivas para os portadores de FLP e aperfeiçoar protocolos de tratamento e de investigação, incluindo o aconselhamento genético e ações voltadas ao incremento do banco genético. A experiência dos cuidadores no desenvolvimento das políticas permite a prevenção de doenças e transtornos associados à ocorrência de fissuras labiopalatinas. Objetivos: Analisar as experiências de familiares de crianças nascidas com fissuras labiopalatinas acerca do tratamento e de orientações recebidas sobre o cuidado de crianças nascidas com essa malformação. Método: Trata-se de um estudo qualitativo desenhado para análise sob a técnica da Análise do Discurso a partir dos testemunhos de 11 (onze) mães de crianças com FLP e que compartilham site orientado a familiares e cuidadores de crianças com malformação do tipo FLP. Optou-se pela análise temática categorial como eixo estruturante dos achados. Resultados: Cinco modalidades de testemunhos das (e para) as mães foram identificadas: (1) mensagens de encorajamento e superação; (2) mensagens informativas; (3) relatos pessoais de ambos os indivíduos nascidos com fissura labiopalatina e parentes destes; (4) mensagens com fotografias, incluindo antes e depois de cirurgias reparadoras; e (5) mensagens de interação dos membros nos comentários, relacionadas a outras questões que surgem no decorrer da publicação dos comentários. Conclusões: O relato de abalos emocionais é frequente nas narrativas, com menção a angústia e desespero mas está presente o sentimento de resiliência e de esperança como componente intrínseco do sentimento de maternidade. A descoberta do diagnóstico durante a gravidez ou mesmo a suspeita de que a criança possa vir a ter fissura labiopalatina em função de outros casos na família parecem minimizar o impacto da notícia. Transparecem nas mensagens sinais de conflito entre as participantes da pesquisa e profissionais de saúde, pais das crianças, tanto em função de condutas profissionais quanto de tratamento. A investigação genética em si é cercada de contradições, incertezas e desinformações. A investigação genética aparece, nas narrativas, como procedimento invasivo, sendo inclusive nomeada dessa maneira por profissional de saúde que acompanhou a gravidez de uma das mães. É apontada, ainda, como desnecessária, frente ao grande número de exames, consultas, procedimentos e cirurgias aos quais crianças nascidas com fissuras labiopalatinas são submetidas desde o momento de seu nascimento. / Introduction: The initial impact of the birth of a child with malformation is sometimes so great that family members spend a great deal of time and energy to meet the child\'s first demands for treatment and rehabilitation, which makes them investigate further related to malformation. Rationale: Knowing the opinions of family members of children born with cleft lip and palate about treatment can contribute to the development of more inclusive public policies for FLP patients and to improve treatment and research protocols, including genetic counseling and actions to increase the bank genetic. The caregivers\' experience in policy development allows the prevention of diseases and disorders associated with the occurrence of cleft lip and palate. Objectives: To analyze the experiences of family members of children born with cleft lip and palate about the treatment and guidelines received about the care of children born with this malformation. Method: This is a qualitative study designed for analysis under the Discourse Analysis technique from the testimonies of 11 (eleven) mothers of children with FLP and who share a site oriented to family members and caregivers of children with FLP malformation. The categorical thematic analysis was chosen as the structuring axis of the findings. Results: Five types of (and for) mothers\' reports were identified: (1) messages of encouragement and overcoming; (2) information messages; (3) personal reports of both individuals born with cleft lip and palate and relatives of these; (4) messages with photographs, including before and after restorative surgeries; and (5) member interaction messages in the comments, related to other issues that arise in the course of the publication of the comments. Conclusions: The report of emotional upheavals is frequent in the narratives, with mention of anguish and despair, but the feeling of resilience and hope is present as an intrinsic component of the feeling of motherhood. The discovery of the diagnosis during pregnancy or even the suspicion that the child may have cleft lip and palate in function of other cases in the family seem to minimize the impact of the news. Messages of conflict between the research participants and health professionals, the parents of the children, are shown in the messages, both in terms of professional conduct and treatment. Genetic research itself is surrounded by contradictions, uncertainties and disinformation. Genetic research appears in the narratives as an invasive procedure, being even named in this way by a health professional who followed the pregnancy of one of the mothers. It is also pointed out as unnecessary, given the large number of exams, consultations, procedures and surgeries to which children born with cleft lip and palate are submitted from the moment of their birth.

Introdução: O impacto inicial do nascimento de uma criança com malformação por vezes é tão grande que os familiares despendem grande quantidade de tempo e energia para atender às primeiras demandas de tratamento e reabilitação da criança, o que faz com que coloquem em segundo plano investigações mais aprofundadas relacionadas à malformação. Justificativa: Conhecer opiniões de familiares de crianças nascidas com fissuras labiopalatinas acerca do tratamento pode contribuir para que se desenvolvam políticas públicas mais inclusivas para os portadores de FLP e aperfeiçoar protocolos de tratamento e de investigação, incluindo o aconselhamento genético e ações voltadas ao incremento do banco genético. A experiência dos cuidadores no desenvolvimento das políticas permite a prevenção de doenças e transtornos associados à ocorrência de fissuras labiopalatinas. Objetivos: Analisar as experiências de familiares de crianças nascidas com fissuras labiopalatinas acerca do tratamento e de orientações recebidas sobre o cuidado de crianças nascidas com essa malformação. Método: Trata-se de um estudo qualitativo desenhado para análise sob a técnica da Análise do Discurso a partir dos testemunhos de 11 (onze) mães de crianças com FLP e que compartilham site orientado a familiares e cuidadores de crianças com malformação do tipo FLP. Optou-se pela análise temática categorial como eixo estruturante dos achados. Resultados: Cinco modalidades de testemunhos das (e para) as mães foram identificadas: (1) mensagens de encorajamento e superação; (2) mensagens informativas; (3) relatos pessoais de ambos os indivíduos nascidos com fissura labiopalatina e parentes destes; (4) mensagens com fotografias, incluindo antes e depois de cirurgias reparadoras; e (5) mensagens de interação dos membros nos comentários, relacionadas a outras questões que surgem no decorrer da publicação dos comentários. Conclusões: O relato de abalos emocionais é frequente nas narrativas, com menção a angústia e desespero mas está presente o sentimento de resiliência e de esperança como componente intrínseco do sentimento de maternidade. A descoberta do diagnóstico durante a gravidez ou mesmo a suspeita de que a criança possa vir a ter fissura labiopalatina em função de outros casos na família parecem minimizar o impacto da notícia. Transparecem nas mensagens sinais de conflito entre as participantes da pesquisa e profissionais de saúde, pais das crianças, tanto em função de condutas profissionais quanto de tratamento. A investigação genética em si é cercada de contradições, incertezas e desinformações. A investigação genética aparece, nas narrativas, como procedimento invasivo, sendo inclusive nomeada dessa maneira por profissional de saúde que acompanhou a gravidez de uma das mães. É apontada, ainda, como desnecessária, frente ao grande número de exames, consultas, procedimentos e cirurgias aos quais crianças nascidas com fissuras labiopalatinas são submetidas desde o momento de seu nascimento. / Introduction: The initial impact of the birth of a child with malformation is sometimes so great that family members spend a great deal of time and energy to meet the child\'s first demands for treatment and rehabilitation, which makes them investigate further related to malformation. Rationale: Knowing the opinions of family members of children born with cleft lip and palate about treatment can contribute to the development of more inclusive public policies for FLP patients and to improve treatment and research protocols, including genetic counseling and actions to increase the bank genetic. The caregivers\' experience in policy development allows the prevention of diseases and disorders associated with the occurrence of cleft lip and palate. Objectives: To analyze the experiences of family members of children born with cleft lip and palate about the treatment and guidelines received about the care of children born with this malformation. Method: This is a qualitative study designed for analysis under the Discourse Analysis technique from the testimonies of 11 (eleven) mothers of children with FLP and who share a site oriented to family members and caregivers of children with FLP malformation. The categorical thematic analysis was chosen as the structuring axis of the findings. Results: Five types of (and for) mothers\' reports were identified: (1) messages of encouragement and overcoming; (2) information messages; (3) personal reports of both individuals born with cleft lip and palate and relatives of these; (4) messages with photographs, including before and after restorative surgeries; and (5) member interaction messages in the comments, related to other issues that arise in the course of the publication of the comments. Conclusions: The report of emotional upheavals is frequent in the narratives, with mention of anguish and despair, but the feeling of resilience and hope is present as an intrinsic component of the feeling of motherhood. The discovery of the diagnosis during pregnancy or even the suspicion that the child may have cleft lip and palate in function of other cases in the family seem to minimize the impact of the news. Messages of conflict between the research participants and health professionals, the parents of the children, are shown in the messages, both in terms of professional conduct and treatment. Genetic research itself is surrounded by contradictions, uncertainties and disinformation. Genetic research appears in the narratives as an invasive procedure, being even named in this way by a health professional who followed the pregnancy of one of the mothers. It is also pointed out as unnecessary, given the large number of exams, consultations, procedures and surgeries to which children born with cleft lip and palate are submitted from the moment of their birth.