Diss. (sammanfattning) Uppsala : Univ., 2002. / Härtill 4 uppsatser och 1 appendix.

Thesis (doctoral)--Universiteit Leiden, 2005. / Includes bibliographical references (p. [299]-332).

The choosen ethical problems connected with genetical malformations of fetus are very often discussed nowadays. This discussion is somehow connected with development of modern technologies in prenatal diagnostics. Is it ethically correct to admit termination of pregnancy if the fetus is genetically impaired. My diploma work deals with the views of parents whose children were born with malformations and also students of ZSF JCU. The main target of my work is to analyse views on prenatally diagnosed malformations of chosen group of respondents The theoretical part of ma work deals with the beginning of human life and prenatal malformations. I have noticed chosen ethical problems which are connected with prenatal malformations, prenatal diagnostics, termination of pregnancy and integration of disabled people in the society. The legal document are also mentioned. The practical part of my work deals with views of parents whose children were born with malformations and students of ZSF JCU. I apply the method of analytic research. The questionnaire survey is used. As respondent are chosen parents of disabled children and students of ZSF JCU because they can work with handicapped clients. Finally the statements are assessed and compared.

Orientador: João Luiz de Carvalho Pinto e Silva / Tese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas / Made available in DSpace on 2018-08-17T23:07:09Z (GMT). No. of bitstreams: 1 Rehder_PatriciaMoretti_D.pdf: 1866616 bytes, checksum: 49b75f5f19ec3fe077d8154a0e8696e3 (MD5) Previous issue date: 2011 / Resumo: O Diabetes mellitus quando associado à gestação resulta em complicações gestacionais e perinatais, portanto recomenda-se a pesquisa do diabetes a todas as gestantes através da identificação dos fatores de risco para a doença e glicemia de jejum. Quando houver pelo menos um fator de risco presente ou glicemia de jejum alterada, isto é, rastreamento positivo, deve-se realizar a curva glicêmica gestacional (CGG) com sobrecarga de glicose para confirmação diagnóstica. Os pontos de corte para diagnóstico de diabetes são elevados de tal forma que algumas gestantes com curvas glicêmicas normais, mas com o rastreamento positivo, apresentam os resultados similares aos de mães diabéticas. Assim, começaram a surgir trabalhos analisando resultados de gestantes com essas características. Objetivo: Avaliar os resultados gestacionais e perinatais de mulheres com rastreamento positivo para diabetes mellitus e curvas glicêmicas normais. Pacientes e Método: Trata-se de estudo longitudinal retrospectivo e descritivo com componente de validação de testes de diagnóstico. Foram incluídas 409 gestantes, atendidas no Hospital da Mulher Prof. Dr. José A. Pinotti Centro de Atenção Integral à Saúde da Mulher - CAISM\UNICAMP, no período de 2000 a 2009, com rastreamento positivo e diagnóstico negativo para DMG. Foram analisadas as prevalências das variáveis demográficas, gestacionais e neonatais e calculadas a sensibilidade e a especificidade da CGG para predizer macrossomia e recém-nascido grande para idade gestacional e com esses valores desenhadas as curvas "ROC" tendo a curva glicêmica como teste diagnóstico. Resultados: Os fatores de risco que foram mais prevalentes para realização da CGG foram obesidade ou sobrepeso, hipertensão arterial crônica, idade materna avançada e antecedente familiar de DM. Os resultados neonatais e gestacionais com maior prevalência foram maior taxa de cesárea, recém-nascidos grandes para idade gestacional e prematuridade. Na curva ROC, a glicemia de jejum da CGG foi menor que a da literatura em predição de RN GIG. Já a glicemia de jejum de início do pré-natal sem associação a fatores de risco teve baixa prevalência a resultados adversos gestacionais e perinatais. Conclusões: A prevalência de recém-nascido grande para idade gestacional, taxa de cesárea e prematuridade foi alta em gestantes com rastreamento positivo para DM e CGG normal. O ponto da curva glicêmica que melhor se associou a esses resultados foi a glicemia de jejum com valor entre 87mg/dL, pela curva ROC / Abstract: Diabetes mellitus when associated with pregnancy, results in high frequency gestational and perinatal complications. Recommended search of gestational diabetes to all pregnant women through the identification of risk factors for disease and fasting plasma glucose and in case there is at least one risk factor or plasma glucose value over than 90mg%, must be the confirmation of the diagnosis by oral glucose challenge test (OGCT). The cut-off points for diagnosis are high so that some pregnant women have normal OGCT and positive screening with results similar to those of diabetic. Thus began to appear work analyzing results of pregnant women with these characteristics. Objective: to evaluate the accuracy of the OGCT in predicting adverse perinatal outcomes in women screened positive for diabetes mellitus and to estimate cut-off thresholds related to these outcomes. Patients and methods: retrospective study and longitudinal prevalence with component validation of diagnostic tests. The sample was constituted of 409 women, in Women's Hospital Prof. Dr. José A. Pinotti Center for Integral Women's Health of State University of Campinas - CAISM\UNICAMP, in the period of 2000 to 2009, with screening positive and negative diagnosis for DMG. Were analysed the prevalence of gestational demographic variables, and neonatal diseases and sensitivity and specificity were calculated for each of the OGCT to predict macrossomia and newborn large for gestational age and with these values drawn on curves "ROC" having the OGCT as diagnostic testes. Results: the risk factors that were more prevalent for realization of OGCT were overweight or obesity, chronic hypertension, advanced maternal age and family antecedent of DM. the results of neonatal and gestational with higher prevalence were higher rate of c-section, newborn large for gestational age (LGA) and prematurity. In the ROC curve, the GCT fasting which best joined the ability of predicting newborn LGA was smaller than the literature. Already the fasting of early prenatal without association with risk factors had low Association regarding adverse perinatal and gestational outcomes. Conclusion: the pregnant women with positive screening for DM and CGG normal higher prevalence of newborns large for gestational age, Cesarean sections and premature and the point of the curve which best joined this fact was the fasting plasma glucose value of 87 mg% / Doutorado / Saúde Materna e Perinatal / Doutor em Ciências da Saúde

Indiana University-Purdue University Indianapolis (IUPUI) / This thesis critically evaluates the progress of prenatal genetic testing, and how it, along with concurrent social pressures (such as the goal of having the ideal child) may have altered parental decision-making, autonomy, and attitudes toward children. Distinctive to this thesis is the analysis of prenatal genetic testing with a view of the eugenic history of genetics and public health initiatives in maternal health. This thesis will describe what current genetic screening pursuits may indicate with this historical understanding. I will discuss the dynamics of these subjects, and how they correspond with current social demands for perfection and the growing commodification of children. With this analysis I will attempt to shed greater light upon how our current prenatal screening technologies can modify the parent/child relationship, and what this may mean as medical science and technology advance. This thesis will be organized in a three-chapter format, providing a historical viewpoint and analysis of salient ethical issues.

Minha experiência clínica atendendo gestantes com diagnóstico de cardiopatia fetal pôde propiciar a observação de alterações na condição emocional das pacientes que se mantinham em acompanhamento psicológico no hospital de Cardiologia, que passou a recebê-las desde o período pré-natal até o nascimento do bebê, para que estes fossem submetidos às intervenções cardíacas necessárias. Esta percepção motivou a pesquisa sobre a natureza destas repercussões emocionais uma vez que a gestação é considerada um período de transição e de crise para a mulher, no qual precisa se reorganizar emocionalmente devido às mudanças com a vinda do filho, bem como às expectativas e idealizações inerentes. O objetivo foi identificar as repercussões emocionais mais significativas a partir de aspectos da psicodinâmica das gestantes, visando contribuir para a assistência a esta população. O método utilizado foi o clínico qualitativo, tendo como instrumentos: a entrevista semidirigida e as técnicas projetivas, Desenho da Figura Humana (DFH) e Teste de Apercepção Temática (TAT). Foi realizada a análise de conteúdo, conforme Bardin, de uma sessão de atendimento psicológico, gravada, com o consentimento das participantes, e transcrita posteriormente. Os resultados confirmaram a presença de repercussões emocionais significativas, dentre elas: os sentimentos de impotência e de posse em relação ao bebê, sentimento de culpa pelo diagnóstico fetal, angústia de morte, desamparo, não aceitação do diagnóstico e medo do desconhecido. A partir da análise psicodinâmica, identificou-se também: as principais ansiedades das gestantes - conhecer o bebê, de separação e do parto; os mecanismos de defesa atuantes - negação, regressão, identificação, racionalização e idealização- e as principais formas de enfrentamento - confiança na equipe, acreditar que a barriga é a forma possível de proteção do bebê, controle emocional, busca de conhecimento sobre a cardiopatia, identificação com outros pais na mesma situação e oferecimento de ajuda a estes, e a fé. No DFH destacaram-se: a inclinação das figuras femininas e masculinas, que pode estar relacionado à tentativa de manter um equilíbrio corporal em virtude das modificações físicas ao final da gestação; a assimetria apresentada em metade dos desenhos, analisada como possível forma de expressar a percepção das anomalias corporais dos bebês, embora a cardiopatia não possa ser visualmente observada, pode se relacionar às fantasias sobre a aparência do bebê malformado. No TAT perceberam-se importantes conflitos como dependência x independência e maternidade x afiliação, com o uso de mecanismos de defesa tais como a regressão, racionalização e idealização. Concluiu-se que o diagnóstico de cardiopatia fetal traz intensas repercussões emocionais, relacionadas às fantasias de morte sobre o nascimento do filho, sendo atribuída ao parto uma representação simbólica ainda mais angustiante que nas gestações comuns ou não caracterizadas como de alto risco, pois parece ser vivenciada inicialmente como uma situação quase-certa de morte, o que torna importante que o acompanhamento psicológico seja oferecido nas instituições de saúde, por todo o ciclo gravídico-puerperal / My clinical experience serving pregnant women with diagnosis of fetus with heart disease made it possible to observe changes in the emotional condition of the patients who remained in counseling in the Cardiology Hospital, which has been admitting them from the prenatal period to childbirth, so that they were subjected to the necessary cardiac interventions. This realization led to research into the nature of these emotional repercussions since pregnancy is considered a period of transition and crisis to the woman, who needs emotional restructuring due to changes related to the child\'s coming, and the inherent expectations and idealizations. The objective was to identify the most significant emotional repercussions from the psychodynamic aspects of pregnant women, in order to contribute to their assistance. The research followed a clinical-qualitative method, with the following instruments: semi-structured interviews and projective techniques, the Human Figure Drawing Test (HFD) and Thematic Apperception Test (TAT). Content analysis was carried out according to Bardin during psychological counseling sessions, recorded with the consent of the participants, and later transcribed. The results confirmed the presence of significant emotional repercussions, such as: feelings of powerlessness and possession over the baby, guilt over fetal diagnosis, death anxiety, helplessness, denial and fear of the unknown. The psychodynamic analysis also identified: the main anxieties of pregnant women knowing the baby, separation and childbirth; the active defense mechanisms denial, regression, identification, rationalization and idealization; and the main coping mechanisms confidence in the team, belief in the bellys protection, emotional control, pursuit of knowledge about the disease, identification with other parents in similar situations and the ability to extend help to them, and faith. HFD highlighted: the angle of the female and male figures, which may be related to trying to maintain body balance because of physical changes at the end of pregnancy; the asymmetry identified in half of the drawings, analyzed as a possible way to express the perception of bodily abnormalities of babies which, even in the absence of visual observation of the abnormalities, can relate to fantasies about the appearance of a malformed baby. TAT showed important conflicts such as dependence vs. independence and motherhood vs. affiliation with the use of defense mechanisms such as regression, rationalization and idealization. The research concludes that the diagnosis of fetal heart disease causes intense emotional distress, related to death fantasies during childbirth with childbirth having a more distressing symbolic representation than during ordinary or low-risk pregnancies, since it seems to be early experienced as a situation of almost certain death, which makes it important that health institutions offer psychological counseling throughout the pregnancy and childbirth

Os objetivos deste estudo foram determinar o índice sucesso na realização de um ecocardiograma fetal completo entre a 11ª e a 14ª semanas, estabelecer a semana mais adequada para a realização de um exame completo, mensurar os diâmetros dos anéis das valvas cardíacas e comparar os diâmetros obtidos com o comprimento crânio-nádegas (CCN) correlacionando a evolução das dimensões cardíacas com o crescimento fetal nesta fase evolutiva. Avaliamos por ecocardiografia 46 fetos que apresentavam translucência nucal e avaliação Doppler do fluxo do ducto venoso normais. O estudo ecocardiográfico fetal foi realizado por via transvaginal, entre a 11ª e a 14ª semanas, com intervalos seriados de uma semana. Em cada exame, foram obtidos os três principais planos ecocardiográficos básicos e os diâmetros das valvas aórtica, pulmonar, mitral e tricúspide. As medidas dos diâmetros valvares foram comparadas ao diâmetro do CCN. Os resultados demonstraram uma taxa de sucesso na obtenção de um ecocardiograma completo de 37% na 11ª semana, de 85% na 12ª semana e de 100% entre a 13ª e a 14ª semanas. O corte mais freqüentemente obtido, nas duas primeiras semanas, foi o eixo longo e o mais difícil de ser visibilizado foi o eixo curto. As curvas de crescimento dos diâmetros das valvas mitral, tricúspide, aórtica e pulmonar demonstraram uma correlação linear com o crescimento fetal com valores de r² de 0,74, 0,75, 0,77 e 0,73. Não houve diferença estatisticamente significativa entre os diâmetros das valvas atrioventriculares e entre os diâmetros das valvas ventriculoarteriais. A obtenção dos três planos ecocardiográficos básicos em 85% dos casos na 12ª semana e 100% dos casos, a partir da 13ª semana, demonstra que é possível a realização de um ecocardiograma fetal completo no primeiro trimeste da gestação, por via transvaginal. Houve correlação positiva entre os diâmetros valvares e o CCN demonstrando uma curva de crescimento neste período. A comparação entre diâmetros valvares mitral e tricúspide, do mesmo modo que, a comparação entre os diâmetros valvares aórtico e pulmonar não apresentaram diferenças estatisticamente significativas, sugerindo não haver dominância no tamanho destas estruturas, nesta fase do desenvolvimento em fetos normais. / The aim of this study was to assess the feasibility of performing a complete echocardiography study during the first trimester of pregnancy by transvaginal approach and to establish the best week to accomplish a complete evaluation. A correlation between the measurements of the diameters of the cardiac valves and the gestational age along this period of the fetal life was made. Forty-six fetuses with normal nuchal translucency and Doppler evaluation of the venous duct were submitted to fetal echocardiography studies by transvaginal approach between the 11 and 14 weeks of gestation with a week interval. The following measurements were obtained: mitral, tricuspid, aortic and pulmonary valves diameters and the crown-rump length (CRL). The obtained results of the cardiac dimensions were compared with the CRL in the four weeks determinations. The rates of complete echocardiography evaluation were 37%, 85% and 100% at 11, 12 and 13 – 14 weeks, respectively. The longitudinal view was the easiest to obtain (100% at 12 weeks) and the short view was the most difficult one. There was no statistically significant difference between neither the diameters of the mitral and tricuspid nor the aortic and pulmonary valves. The diameters of the valves were correlated with the CRL and a linear growing curve was obtained with values of r2 of 0.74, 0.75, 0.77 and 0.73 respectively. The study demonstrated the feasibility of a complete fetal echocardiography evaluation by transvaginal approach during the first trimester of gestation. The rate of a complete evaluation increased along the period and reached 100% at 13 weeks. The longitudinal view was the easiest to obtain with a success rate of 100% at 12 week. There was a linear correlation between de cardiac valves diameters and the cranial caudal measurement revealing a relationship between the cardiac and fetal development during this phase of fetal life. The absence of statistically significant difference between the left and right valves dimensions possibly means that there is no predominance of right or left chambers during this period of evaluation.

Duzentas amostras de DNA obtidas de voluntários brasileiros não aparentados foram triadas para SNPs em uma região de 4079 pares de bases do gene PLAC4 através de reação em cadeia da polimerase (PCR) - utilizando o kit Taq Platinum DNA polymerase (Invitrogen, USA) ciclada em termociclador Eppendorf Mastercycle Gradient (Eppendorf, Germany); e posterior sequenciamento - utilizando o kit Big Dye Terminator Cycle Sequencing v3.1 (Applied Biosystems, USA) corrida em sequenciador ABI 3100 DNA Sequencer (Applied Biosystems, USA). Sete fragmentos foram amplificados utilizando pares de iniciadores desenhados com o auxílio do programa Primer 3 baseado em uma sequência do gene PLAC4 obtida do GenBank. Dez SNPs com taxa de heterozigozidade superior a 25% foram identificados, localizados em seis dos sete fragmentos estudados, que fazem a cobertura de 93% da população brasileira. Um painel combinando estes 10 SNPs apresenta potencial utilidade clínica em um teste pré-natal não invasivo da síndrome de Down fetal baseado na abordagem SNP/mRNA / Two hundred DNA samples obtained from unrelated Brazilian individuals were screened for SNPs in a region of 4079 bp of the exon of PLAC4 gene by polymerase chain reaction (PCR) - using Taq Platinum DNA polymerase kit (Invitrogen, USA) cycled on Eppendorf Mastercycle Gradient thermocycle (Eppendorf, Germany); and subsequent sequencing using Big Dye Terminator Cycle Sequencing v3.1 kit (Applied Biosystems, USA) on ABI 3100 DNA Sequencer (Applied Biosystems, USA). Seven fragments were amplified using primer pairs designed by primer 3 software based on PLAC4 sequence obtained from GenBank. Ten SNPs with heterozigosity rate above 25% were identified, located in six of the seven fragments studied, that covers up to 93% of Brazilian population. A panel combining this 10 SNPs show potential utility in clinical setting for a noninvasive prenatal diagnostic test for Down syndrome based in the SNP/mRNA approach

Bei ca. 10 bis 20 % aller Totgeburten wird autoptisch eine Lungenhypoplasie diagnostiziert. Nierenfehlbildungen, vorzeitiger Blasensprung, Hydrops fetalis und Skelettfehlbildungen sind häufige Ursachen eines Minderwuchses der Lunge, der immer mit einer schlechten Prognose einhergeht. Bis heute gibt es jedoch kein zuverlässiges Verfahren zur pränatalen Diagnose einer Lungenhypoplasie, die das geburtshilfliche Management erheblich erleichtern könnte. Bei Totgeburten wird eine Lungenhypoplasie pathologisch-anatomisch durch einen verminderten Lungen / Körpergewichts-Index (L/KG- Index) und einen verringerten Radial Alveolar Count (RAC) belegt. Ziel dieser Studie war es, ein sonographisches Verfahren zu validieren, mit dem man eine fetale Lungenhypoplasie schon während der Schwangerschaft diagnostizieren könnte. Die Untersuchung basierte auf gestationsaltersabhängigen Referenzwerten für verschiedene Biometrieparameter, die das fetale Lungenwachstum gut erfassen. Die aufgestellten Normkurven wurden hinsichtlich ihres prädiktiven Werts zur Vorhersage einer Lungenhypoplasie geprüft. Dazu wurden Messungen bei 39 Feten mit einem hohem Risiko zur Entwicklung einer Lungenhypoplasie zwischen der 17. und 30. SSW vorgenommen. Zur Auswertung gelangten nur die 29 Fälle, bei denen der Verdacht einer Lungenhypoplasie pathologisch-anatomisch belegt oder widerlegt wurde. Die Patienten wurden vier verschiedenen Krankheitsbildern zugeordnet: Vorzeitiger Blasensprung, Hydrothorax, Nierenfehlbildungen und Skelettfehlbildungen. Es wurden jeweils der anterior-posteriore und der seitliche Durchmessers in Höhe des Zwerchfells, des Vierkammerblicks und der Clavicula sowie die Lungenlänge gemessen. Untersuchungen in der Vierkammerblickebene hatten mit einer Sensitivität von 61 % und einer Spezifität von 75 % die höchsten prädiktiven Werte zur Vorhersage einer fetalen Lungenhypoplasie. Die Untersuchung in der VKB-Ebene hat den Vorteil, daß die Einstellung dieser Ebene bei Routineultraschalluntersuchungen während der Schwangerschaft durchgeführt wird und so in der Praxis am ehesten zur Anwendung kommt. Im Vergleich zur Literatur ist unser Verfahren auch in der Vierkammerblickebene zur pränatalen Diagnose einer Lungenhypoplasie relativ unzuverlässig. Messungen in der Clavicula- und der Zwerchfellebene und Messungen der Lungenlänge waren in dieser Untersuchung zur pränatalen Diagnose einer Lungenhypoplasie ungeeignet. Mit Sensitivitäten zwischen 13 % und 47 % stellten sie keine Hilfestellung zur Vorhersage eines Minderwuchses der fetalen Lunge dar. Die Aufschlüsselung der Feten in einzelne Krankheitsbilder erbrachte weitere Informationen. Dabei wurden nur die Messungen in der VKB-Ebene ausgewertet. Bei den Feten mit vorzeitigem Blasensprung, Hydrothorax und Skelettfehlbildungen lagen die Sensitivitäten zwischen 60 % und 100 % und waren mit den Ergebnissen aus der Literatur vergleichbar. Bei den Feten mit Nierenfehlbil-dungen waren die Ergebnisse mit Sensitivitäten von 27 % enttäuschend. Bei der Auswertung wurde deutlich, daß es von großer Bedeutung ist, sowohl den anterior-posterioren als auch den seitlichen Durchmesser zu messen, da nur so zuverlässig die Ausdehnung der Lunge zu erfassen ist. Insgesamt kann das biometrische Verfahren als einfache, gut reproduzierbare, nicht invasive und schnell durchzuführende Möglichkeit zur Untersuchung der fetalen Lunge bezeichnet werden. Es kann wichtige Hinweise geben, eine Lungenhypoplasie schon pränatal zu diagnostizieren. Eine sichere Einschätzung ist jedoch nicht möglich. Neben der Lungenbiometrie könnten evtl. auch Messungen der fetalen Atembewegungen, Messungen der Fruchtwassermenge und dopplersonographische Darstellung der Lungengefäße zur Diagnose beitragen. Letztendlich bleibt eine Lungenhypoplasie eine pathologisch-anatomische Diagnose, die nur durch Autopsie gesichert werden kann. Inwiefern hier neue Aspekte in die Diagnosestellung einbezogen werden können, bleibt zukünftigen Untersuchungen vorbehalten. / Evaluation of sonographic lung biometry as a method to diagnose lung hypoplasia prenatallyIn 10 to 20 % of all stillbirths lung hypoplasia can be diagnosed by autopsy. Causes for the underdevelopment of the lung, which indicates poor prognosis, are urinary tractanomalies, preterm rupture of membranes, hydrops fetalis and skeletal dysplasia. Up to now there is no reliable method to diagnose lung hypoplasia prenatally. In stillbirths lung hypoplasia is proven by autopsy by a decreased lung/body weight index and a low radial alveolar count (RAC). Aim of this study was to evaluate a sonographic method to diagnose lung hypoplasia during pregnancy. The examination was based on normograms for different biometrical parameters, which describe the fetal lung growth between the 15th and the 30th week gestation. The predictive value of the reference curves was determined. 39 fetuses at high risk for developing lung hypoplasia were examined sonographically between the 17th and 30th week gestation. Only the measurements of 29 fetuses, whose diagnosis was proven or disproven by autopsy, were evaluated. The patients were splitted into four groups: preterm rupture of membranes, hydrothorax, urinary tract anomalies and skeletal dysplasia. In each fetus seven different parameters were measured: the anterior-posterior and the transverse diameter at the level of the diaphragm, the four chamber view and the clavicula and additionally the lung length. The best results were found at the level of the four chamber view (sensitivity 61 % and specifity 75 %). An advantage of measurements at the level of the four chamber view is that this examination is performed in normal routine Ultrasound tests during pregnancy. So measurements in this plane could become most important in clinical life. In comparison to other published studies even at the level of the four chamber view our method was not reliable to predict fetal lung hypoplasia. Measurements at the level of the clavicula and of the diaphragm and measurements of the lung length were not useful to diagnose lung hypoplasia before birth. Sensitivities between 13 and 47 % were found. Splitting the fetuses into different etiological groups gave additional information. Only the measurements at the level of the four chamber view were evaluated. In the groups preterm rupture of membranes, hydrothorax and skeletal dysplasia sensitivities between 60 and 100 % were found. These results can be compared with published results. In the group urinary tract anomalies the result was disappointing (sensitivity 27 %). During the evaluation it could be seen easily that it was very important to measure the anterior-posterior as well as the transverse diameter. Only this technique gives the possibility to measure the whole extension of the lung. Summarizing: The biometrical method is a simple, easily reproducable, not invasive and quick possibility to examine the fetal lung. It can help to predict fetal lung hypoplasia. However a reliable diagnosis could not be made. In addition to lung biometry measurements of the the fetal breathing excursions, measurements of the amount of amniotic fluid and examination of the pulmonal circulation may be useful for a prenatal diagnosis. Up to now lung hypoplasia only can be proved by autopsy. It has to be examined in future studies, if any new aspects can help to find a prenatal diagnosis.

A reação em cadeia da polimerase fluorescente quantitativa (QF-PCR) é um método molecular de diagnóstico que se baseia na amplificação de pequenas sequências repetitivas do genoma (Short Tandem Repeats - STRs). Este método pode ser empregado para a detecção de aneuploidias durante a triagem pré-natal, porém, no Brasil, ainda não é utilizado nas instituições públicas. O objetivo do presente estudo foi avaliar a eficácia da QF-PCR em comparação com a citogenética na detecção de aneuploidias. Foram avaliadas 162 amostras de líquido amniótico de gestantes com risco fetal de aneuploidia aumentado. As amostras foram coletadas no Ambulatório de Obstetrícia do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo. O DNA fetal, para a análise do QF-PCR, foi extraído do líquido amniótico e foram utilizados 24 marcadores moleculares fluorescentes para a amplificação de genes presentes nos cromossomos 13, 18, 21, X e Y. A interpretação foi baseada na análise quantitativa dos fragmentos obtidos na amplificação. A análise citogenética foi realizada segundo metodologia convencional. A QF-PCR foi realizada às cegas, sem o conhecimento do resultado citogenético. A concordância entre os resultados obtidos pela citogenética e pela QF-PCR foi de 93,2% (151/162), com sensibilidade total de 90% e especificidade de 97,2%. Quando analisado apenas os resultados passíveis de detecção pela QF-PCR, sem os rearranjos, a concordância atinge 98,1% com sensibilidade de 98,7% e especificidade de 97,2%. O presente estudo demonstra que a QF-PCR é um método eficiente e confiável para triagem pré-natal de aneuploidias. Para a investigação de alterações cromossômicas estruturais a avaliação citogenética é necessária / Quantitative fluorescence polymerase chain reaction (QF-PCR) is a molecular diagnostic method based on the amplification of short tandem repeats (STRs) present in genome. This method is widely used to detect aneuploidies in prenatal screening, but, in Brazil, it is not used in public services. We investigated the accuracy of QF-PCR for the prenatal recognition of common aneuploidies and compared these results with cytogenetic results in our laboratory. A total of 162 amniotic fluid samples of pregnancies with high risk of fetus aneuploid were collected at the Obstetric Ambulatory of Hospital das Clínicas - Universidade de São Paulo, São Paulo, Brazil. Fetal DNA was extracted and analyzed by multiplex QF-PCR kit, which contains 24 primer pairs located on chromosomes 13, 18, 21, X and Y. Cytogenetic analysis was performed based on conventional method. The results of cytogenetics test was not known while QF-PCR assay was performed. QF-PCR results were consistent with the results of cytogenetic analysis in 93.2% of all samples (151/162), with 90% total sensitivity and 97.2% specificity. When only possible results detected by QF-PCR are analyzed, without rearrangements samples, the agreement between both tests increases to 98.1%, with 98.7% sensitivity and 97.2% specificity. The present study demonstrates that QF-PCR was efficient and reliable for prenatal aneuploidy screening. This study suggests that QF-PCR can be used as a rapid diagnostic method; however, to structural chromosomal abnormalities cytogenetic analysis must be used