Trisomy 21 (T21), trisomy 18 (T18) and trisomy 13 (T13) represent the most common autosomal trisomies detected in live-born infants. Previous studies have addressed interventions, morbidities and survival in term or near-term infants with T21, T18 or T13, or were limited by a small number of patients. However, the combination of one of these chromosomal anomalies and very low birth weight (VLBW) presents greater challenges. Data from the NICHD Neonatal Research Network (NRN) and from the Vermont Oxford Network (VON) databases were used to examine the frequency, interventions, risk of mortality and neonatal morbidities, including patent ductus arteriosus (PDA), necrotizing enterocolitis (NEC), late onset sepsis (LOS), retinopathy of prematurity (ROP), and bronchopulmonary dysplasia (BPD), among VLBW infants with T21, T18 or T13 compared to VLBW infants without major birth defects (BD) and VLBW infants with non-chromosomal BD. Anthropometric VON charts for the assessment of birth weight for gestational age among 22 week to term infants with T21, T18 or T13 were also developed. In the VON database (n=539,509), the frequency of VLBW infants diagnosed with T21 was 1681 (0.31%), with T18 was 1416 (0.27%), and with T13 was 435 (0.08%). Major surgery was reported for 30.4% of infants with T21, 9.2% with T18, and 6.8% with T13. In-hospital mortality occurred for 33.1% of infants with T21, 89.0% with T18, and 92.4% with T13. Median survival time was 4 days (95% CI: 3-4) among infants with T18 and 3 days (95% CI: 2-4) among infants with T13. Birth weight for gestational age charts were created using VON data with a total of 5147 infants with T21 aged 22-41 weeks, 1053 infants with T18 aged 22-41 weeks, and 613 infants with T13 aged 22-40 weeks. Among the three groups, infants with T18 were the most likely to be growth restricted while infants with T21 were the least likely to be growth restricted. The new anthropometric VON charts for infants with T21 were also compared to the Lubchenco and Fenton charts and both showed frequent misclassification of infants with T21 as small or large for gestational age. In the NICHD NRN database (n=52,259), 133 (0.26%) VLBW infants were diagnosed with T21, 132 (0.25%) with T18 and 40 (0.08%) with T13. The adjusted relative risk, estimated using Poisson regression models with robust variance estimators, showed an increased risk of death, PDA, NEC, LOS, and BPD among infants with T21 relative to infants with no BD. Relative to infants with non-chromosomal BD, infants with T21 were at increased risk of PDA and NEC. A trend toward a lower risk of ROP was observed among infants with T21 compared to infants with non-chromosomal BD and infants without major BD. Infants with T13, but not infants with T18, were less likely to be mechanically ventilated than infants with T21 and infants without BD. Infants with T18 had increased risk of PDA compared to infants with T13, infants with T21 and infants without BD and increased risk of BPD compared to infants with T21 and infants without BD. The current studies evaluated the largest cohorts of VLBW infants with T21, T18 or T13. These data are important to help families and care providers make informed decisions involving the care of their VLBW infants with these chromosomal anomalies.

Introdução: As trissomias 18 (T18) e Trissomia 13 (T13) são respectivamente a segunda e terceira causa mais comum de aneuploidias, com um aumento no diagnóstico dado o desenvolvimento de métodos e protocolos que incluem rastreio ecográfico e bioquímico, com a possibilidade de realizar um diagnóstico pré-natal a partir da realização de cariótipo fetal. São síndromes polimalformativas graves, potencialmente letais, associadas a uma alta taxa de aborto espontâneo, morte intrauterina e uma vida pós-natal curta, com morte neonatal precoce. O presente estudo visa descrever e analisar a história natural destas trissomias em um país onde não há previsão legal para interrupção terapêutica para estes casos. Objetivos Analisar e descrever a história natural das gestações com diagnóstico pré-natal de trissomia 13 e trissomia 18, identificadas através da realização de amniocentese para obtenção de cariótipo, que foram realizadas entre outubro de 1994 até outubro de 2017 no Serviço de Ginecologia e Obstetrícia do Hospital de Clínicas de Porto Alegre e acompanhadas pelo grupo de Medicina Fetal, e assim comparar os dados encontrados nesta casuística local com a literatura atual a respeito do tema. Métodos: Realizado análise dos prontuários das pacientes que realizaram cariótipo fetal através de amniocentese, e fizeram diagnóstico pré-natal de trissomia 13 ou trissomia 18.Quando incompletos, foram realizadas ligações telefônicas para completá-los. A partir dos dados coletados (demográficos, ecográficos, curso da gestação) foram avaliados os possíveis desfechos fetais (abortamento espontâneo, óbito fetal e nascido vivo), descrevendo a sua história natural, e considerando principalmente a sobrevida dos nativivos. Análise estatística usando SPSS versão 18.0. Resultados: Quarenta e duas pacientes foram incluídas, sendo 13 (31%) T13 e 29 (69%) T18. Todos os casos fizeram cariótipo para diagnóstico pré-natal através de amniocentese. 92,9% das pacientes foram encaminhadas devido a malformações detectadas em ecografia. Na avaliação das malformações, encontrou-se que a identificação de fenda labial e/ou palatina (p 0,008), dilatação pielocalicial (p 0,037) e holoprosencefalia (p <0,0001) foram achados ecográficos com significância estatística freqüentes em T13. A taxa de abortamento foi de 9% para T18, enquanto não houve casos em T13. Óbito fetal aconteceu em 46% e 52% dos casos para T13 e T18 respectivamente. A taxa de nascidos vivos foi de 54% para T13, sendo que a mediana de sobrevida foi de um dia (IC95% -33,55-90,40). 71% dos casos morreram nas primeiras 24 horas e dois casos que ultrapassaram a primeira semana de vida: com 14 dias e 180 dias respectivamente. Para T18 a mediana de sobrevida foi de dois dias [IC95% -1,89-13,17]. Cinco casos (45%) faleceram dentro das primeiras 24 horas. Outros 45% morreram na primeira semana de vida. Um caso (10%) ultrapassou o primeiro mês de vida, com sobrevida de 39 dias. Nenhum caso em ambas as trissomias ultrapassou o primeiro ano de vida. Conclusões: Os resultados deste estudo são consistentes com os referenciados na literatura acerca do diagnóstico de T13 e T18, quando realizado no pré-natal. A presença de malformações em ecografia foi o que mais motivou o encaminhamento para o atendimento especializado e realização de procedimentos diagnósticos, sendo identificados alguns achados característicos que podem aumentar a suspeita diagnóstica, quando detectados no exame ultrassonográfico, principalmente para trissomia 13, como são a defeitos de línea media e dilatação pielocalicial. Além disso, foi possível confirmar as características de síndrome polimalformativa potencialmente letal, destas trissomias quando avaliada a história natural, caracterizando-se por uma taxa alta de morte fetal intra-uterina e com uma sobrevida global curta ao nascimento. Este estudo também proporcionará informações importantes para definir condutas e protocolos de manejo e acompanhamento a serem executadas por equipes multidisciplinares treinadas, que permitam adequados processos de aconselhamento pré-concepcional e genético, e assim facilitar a tomada de decisões pela paciente gestante, seu parceiro e a família. Além disso, proporcionará informações que permitam reavaliar as políticas em saúde coletiva, abrindo a discussão sobre se deve também ser considerada a interrupção terapêutica da gestação em casos de trissomia 13 e trissomia 18 a partir do desejo dos pais e da autorização judicial. / Introduction: Trisomy 18 (T18) and Trisomy 13 (T13) are respectively the second and third most common cause of aneuploidies, with an increase in diagnosis given the development of methods and protocols that include ultrasound and biochemical screening, with the possibility of performing a prenatal diagnosis from the fetal karyotype. These are a serious, potentially lethal polymalformative syndromes associated with a high rate of spontaneous abortion, intrauterine death and short postnatal life with early neonatal death. The present study aims to describe and analyze the natural history of these trisomies in a country where there is no consider a legal provision for therapeutic interruption in these cases. Objectives To analyze and describe the natural history of pregnancies with prenatal diagnosis of trisomy 13 and trisomy 18, identified through amniocentesis to obtain a fetal karyotype, which were performed between October 1994 and October 2017 at the Gynecology and Obstetrics Service of Hospital de Clínicas de Porto Alegre and accompanied by the Fetal Medicine Group, and thus compare the data found in this local casuistry with the current literature on the subject. Methods: Analyzed the medical records of patients who performed a fetal karyotype, through amniocentesis, for prenatal diagnosis of trisomy 13 or trisomy 18. When incomplete, telephone calls were made to complete them. The possible fetal outcomes (spontaneous abortion, fetal death and live birth), describing their natural history, and considering mainly the survival of the 16 children were born alive. Data about each patient was collected and organized (demographic, ultrasound, gestation course) in order to do a secondary analysis. Statistical analysis using SPSS version 18.0. Results: Forty-two patients were included, being 13 (31%) T13 and 29 (69%) T18. All cases had a fetal karyotype for prenatal diagnosis through amniocentesis. 92.9% of the patients were referred due to malformations detected on ultrasound. In the malformations assessment, it was found that the identification of cleft lip and / or palate (p 0.008), pyelocalycial dilatation (p 0.037) and holoprosencephaly (p <0.0001) were frequent echographic findings in T13. The abortion rate was 9% for T18, while there were no cases in T13. Fetal death occurred in 46% and 52% of cases for T13 and T18 respectively. The rate of live births was 54% for T13, and the median survival was one day [95% CI - 33.55-90.40]. 71% of the cases died in the first 24 hours and two cases that exceeded the first week of life: 14 days and 180 days respectively. For T18 the median survival was 2 days [95% CI -1.89-13.17]. Five cases (45%) died within the first 24 hours. Another 45% died in the first week. One case (10%) exceeded the month of life, with a survival of 39 days. No case in both trisomies has exceeded the year of life. Conclusions The results of this study are consistent with those referenced in the literature on the diagnosis of T13 and T18, when performed in the prenatal period. The presence of malformations in ultrasound was the most motivated the referral to specialized care and diagnostic procedures, being identified some characteristic findings that can increase the diagnostic suspicion, when detected in the ultrasound examination, mainly for trisomy 13, as they are defects of midline and pyelocalycial dilatation. In addition, it was possible to confirm the characteristics of a potentially lethal polymalformative syndrome of these trisomies when evaluated its natural history, characterized by a high rate of intrauterine fetal death and short overall survival at birth. This study will also provide important information to define management and follow-up procedures and protocols to be carried out by trained multidisciplinary teams that allow adequate preconceptional and genetic counseling processes, and thus facilitate decision making by the pregnant patient, her partner and the family. In addition, it will provide information to reassess collective health policies, opening the discussion on whether to also consider the therapeutic interruption of gestation in cases of trisomy 13 and trisomy 18, based on parental desire and judicial authorization.

Introdução: As trissomias 18 (T18) e Trissomia 13 (T13) são respectivamente a segunda e terceira causa mais comum de aneuploidias, com um aumento no diagnóstico dado o desenvolvimento de métodos e protocolos que incluem rastreio ecográfico e bioquímico, com a possibilidade de realizar um diagnóstico pré-natal a partir da realização de cariótipo fetal. São síndromes polimalformativas graves, potencialmente letais, associadas a uma alta taxa de aborto espontâneo, morte intrauterina e uma vida pós-natal curta, com morte neonatal precoce. O presente estudo visa descrever e analisar a história natural destas trissomias em um país onde não há previsão legal para interrupção terapêutica para estes casos. Objetivos Analisar e descrever a história natural das gestações com diagnóstico pré-natal de trissomia 13 e trissomia 18, identificadas através da realização de amniocentese para obtenção de cariótipo, que foram realizadas entre outubro de 1994 até outubro de 2017 no Serviço de Ginecologia e Obstetrícia do Hospital de Clínicas de Porto Alegre e acompanhadas pelo grupo de Medicina Fetal, e assim comparar os dados encontrados nesta casuística local com a literatura atual a respeito do tema. Métodos: Realizado análise dos prontuários das pacientes que realizaram cariótipo fetal através de amniocentese, e fizeram diagnóstico pré-natal de trissomia 13 ou trissomia 18.Quando incompletos, foram realizadas ligações telefônicas para completá-los. A partir dos dados coletados (demográficos, ecográficos, curso da gestação) foram avaliados os possíveis desfechos fetais (abortamento espontâneo, óbito fetal e nascido vivo), descrevendo a sua história natural, e considerando principalmente a sobrevida dos nativivos. Análise estatística usando SPSS versão 18.0. Resultados: Quarenta e duas pacientes foram incluídas, sendo 13 (31%) T13 e 29 (69%) T18. Todos os casos fizeram cariótipo para diagnóstico pré-natal através de amniocentese. 92,9% das pacientes foram encaminhadas devido a malformações detectadas em ecografia. Na avaliação das malformações, encontrou-se que a identificação de fenda labial e/ou palatina (p 0,008), dilatação pielocalicial (p 0,037) e holoprosencefalia (p <0,0001) foram achados ecográficos com significância estatística freqüentes em T13. A taxa de abortamento foi de 9% para T18, enquanto não houve casos em T13. Óbito fetal aconteceu em 46% e 52% dos casos para T13 e T18 respectivamente. A taxa de nascidos vivos foi de 54% para T13, sendo que a mediana de sobrevida foi de um dia (IC95% -33,55-90,40). 71% dos casos morreram nas primeiras 24 horas e dois casos que ultrapassaram a primeira semana de vida: com 14 dias e 180 dias respectivamente. Para T18 a mediana de sobrevida foi de dois dias [IC95% -1,89-13,17]. Cinco casos (45%) faleceram dentro das primeiras 24 horas. Outros 45% morreram na primeira semana de vida. Um caso (10%) ultrapassou o primeiro mês de vida, com sobrevida de 39 dias. Nenhum caso em ambas as trissomias ultrapassou o primeiro ano de vida. Conclusões: Os resultados deste estudo são consistentes com os referenciados na literatura acerca do diagnóstico de T13 e T18, quando realizado no pré-natal. A presença de malformações em ecografia foi o que mais motivou o encaminhamento para o atendimento especializado e realização de procedimentos diagnósticos, sendo identificados alguns achados característicos que podem aumentar a suspeita diagnóstica, quando detectados no exame ultrassonográfico, principalmente para trissomia 13, como são a defeitos de línea media e dilatação pielocalicial. Além disso, foi possível confirmar as características de síndrome polimalformativa potencialmente letal, destas trissomias quando avaliada a história natural, caracterizando-se por uma taxa alta de morte fetal intra-uterina e com uma sobrevida global curta ao nascimento. Este estudo também proporcionará informações importantes para definir condutas e protocolos de manejo e acompanhamento a serem executadas por equipes multidisciplinares treinadas, que permitam adequados processos de aconselhamento pré-concepcional e genético, e assim facilitar a tomada de decisões pela paciente gestante, seu parceiro e a família. Além disso, proporcionará informações que permitam reavaliar as políticas em saúde coletiva, abrindo a discussão sobre se deve também ser considerada a interrupção terapêutica da gestação em casos de trissomia 13 e trissomia 18 a partir do desejo dos pais e da autorização judicial. / Introduction: Trisomy 18 (T18) and Trisomy 13 (T13) are respectively the second and third most common cause of aneuploidies, with an increase in diagnosis given the development of methods and protocols that include ultrasound and biochemical screening, with the possibility of performing a prenatal diagnosis from the fetal karyotype. These are a serious, potentially lethal polymalformative syndromes associated with a high rate of spontaneous abortion, intrauterine death and short postnatal life with early neonatal death. The present study aims to describe and analyze the natural history of these trisomies in a country where there is no consider a legal provision for therapeutic interruption in these cases. Objectives To analyze and describe the natural history of pregnancies with prenatal diagnosis of trisomy 13 and trisomy 18, identified through amniocentesis to obtain a fetal karyotype, which were performed between October 1994 and October 2017 at the Gynecology and Obstetrics Service of Hospital de Clínicas de Porto Alegre and accompanied by the Fetal Medicine Group, and thus compare the data found in this local casuistry with the current literature on the subject. Methods: Analyzed the medical records of patients who performed a fetal karyotype, through amniocentesis, for prenatal diagnosis of trisomy 13 or trisomy 18. When incomplete, telephone calls were made to complete them. The possible fetal outcomes (spontaneous abortion, fetal death and live birth), describing their natural history, and considering mainly the survival of the 16 children were born alive. Data about each patient was collected and organized (demographic, ultrasound, gestation course) in order to do a secondary analysis. Statistical analysis using SPSS version 18.0. Results: Forty-two patients were included, being 13 (31%) T13 and 29 (69%) T18. All cases had a fetal karyotype for prenatal diagnosis through amniocentesis. 92.9% of the patients were referred due to malformations detected on ultrasound. In the malformations assessment, it was found that the identification of cleft lip and / or palate (p 0.008), pyelocalycial dilatation (p 0.037) and holoprosencephaly (p <0.0001) were frequent echographic findings in T13. The abortion rate was 9% for T18, while there were no cases in T13. Fetal death occurred in 46% and 52% of cases for T13 and T18 respectively. The rate of live births was 54% for T13, and the median survival was one day [95% CI - 33.55-90.40]. 71% of the cases died in the first 24 hours and two cases that exceeded the first week of life: 14 days and 180 days respectively. For T18 the median survival was 2 days [95% CI -1.89-13.17]. Five cases (45%) died within the first 24 hours. Another 45% died in the first week. One case (10%) exceeded the month of life, with a survival of 39 days. No case in both trisomies has exceeded the year of life. Conclusions The results of this study are consistent with those referenced in the literature on the diagnosis of T13 and T18, when performed in the prenatal period. The presence of malformations in ultrasound was the most motivated the referral to specialized care and diagnostic procedures, being identified some characteristic findings that can increase the diagnostic suspicion, when detected in the ultrasound examination, mainly for trisomy 13, as they are defects of midline and pyelocalycial dilatation. In addition, it was possible to confirm the characteristics of a potentially lethal polymalformative syndrome of these trisomies when evaluated its natural history, characterized by a high rate of intrauterine fetal death and short overall survival at birth. This study will also provide important information to define management and follow-up procedures and protocols to be carried out by trained multidisciplinary teams that allow adequate preconceptional and genetic counseling processes, and thus facilitate decision making by the pregnant patient, her partner and the family. In addition, it will provide information to reassess collective health policies, opening the discussion on whether to also consider the therapeutic interruption of gestation in cases of trisomy 13 and trisomy 18, based on parental desire and judicial authorization.

Introdução: As trissomias 18 (T18) e Trissomia 13 (T13) são respectivamente a segunda e terceira causa mais comum de aneuploidias, com um aumento no diagnóstico dado o desenvolvimento de métodos e protocolos que incluem rastreio ecográfico e bioquímico, com a possibilidade de realizar um diagnóstico pré-natal a partir da realização de cariótipo fetal. São síndromes polimalformativas graves, potencialmente letais, associadas a uma alta taxa de aborto espontâneo, morte intrauterina e uma vida pós-natal curta, com morte neonatal precoce. O presente estudo visa descrever e analisar a história natural destas trissomias em um país onde não há previsão legal para interrupção terapêutica para estes casos. Objetivos Analisar e descrever a história natural das gestações com diagnóstico pré-natal de trissomia 13 e trissomia 18, identificadas através da realização de amniocentese para obtenção de cariótipo, que foram realizadas entre outubro de 1994 até outubro de 2017 no Serviço de Ginecologia e Obstetrícia do Hospital de Clínicas de Porto Alegre e acompanhadas pelo grupo de Medicina Fetal, e assim comparar os dados encontrados nesta casuística local com a literatura atual a respeito do tema. Métodos: Realizado análise dos prontuários das pacientes que realizaram cariótipo fetal através de amniocentese, e fizeram diagnóstico pré-natal de trissomia 13 ou trissomia 18.Quando incompletos, foram realizadas ligações telefônicas para completá-los. A partir dos dados coletados (demográficos, ecográficos, curso da gestação) foram avaliados os possíveis desfechos fetais (abortamento espontâneo, óbito fetal e nascido vivo), descrevendo a sua história natural, e considerando principalmente a sobrevida dos nativivos. Análise estatística usando SPSS versão 18.0. Resultados: Quarenta e duas pacientes foram incluídas, sendo 13 (31%) T13 e 29 (69%) T18. Todos os casos fizeram cariótipo para diagnóstico pré-natal através de amniocentese. 92,9% das pacientes foram encaminhadas devido a malformações detectadas em ecografia. Na avaliação das malformações, encontrou-se que a identificação de fenda labial e/ou palatina (p 0,008), dilatação pielocalicial (p 0,037) e holoprosencefalia (p <0,0001) foram achados ecográficos com significância estatística freqüentes em T13. A taxa de abortamento foi de 9% para T18, enquanto não houve casos em T13. Óbito fetal aconteceu em 46% e 52% dos casos para T13 e T18 respectivamente. A taxa de nascidos vivos foi de 54% para T13, sendo que a mediana de sobrevida foi de um dia (IC95% -33,55-90,40). 71% dos casos morreram nas primeiras 24 horas e dois casos que ultrapassaram a primeira semana de vida: com 14 dias e 180 dias respectivamente. Para T18 a mediana de sobrevida foi de dois dias [IC95% -1,89-13,17]. Cinco casos (45%) faleceram dentro das primeiras 24 horas. Outros 45% morreram na primeira semana de vida. Um caso (10%) ultrapassou o primeiro mês de vida, com sobrevida de 39 dias. Nenhum caso em ambas as trissomias ultrapassou o primeiro ano de vida. Conclusões: Os resultados deste estudo são consistentes com os referenciados na literatura acerca do diagnóstico de T13 e T18, quando realizado no pré-natal. A presença de malformações em ecografia foi o que mais motivou o encaminhamento para o atendimento especializado e realização de procedimentos diagnósticos, sendo identificados alguns achados característicos que podem aumentar a suspeita diagnóstica, quando detectados no exame ultrassonográfico, principalmente para trissomia 13, como são a defeitos de línea media e dilatação pielocalicial. Além disso, foi possível confirmar as características de síndrome polimalformativa potencialmente letal, destas trissomias quando avaliada a história natural, caracterizando-se por uma taxa alta de morte fetal intra-uterina e com uma sobrevida global curta ao nascimento. Este estudo também proporcionará informações importantes para definir condutas e protocolos de manejo e acompanhamento a serem executadas por equipes multidisciplinares treinadas, que permitam adequados processos de aconselhamento pré-concepcional e genético, e assim facilitar a tomada de decisões pela paciente gestante, seu parceiro e a família. Além disso, proporcionará informações que permitam reavaliar as políticas em saúde coletiva, abrindo a discussão sobre se deve também ser considerada a interrupção terapêutica da gestação em casos de trissomia 13 e trissomia 18 a partir do desejo dos pais e da autorização judicial. / Introduction: Trisomy 18 (T18) and Trisomy 13 (T13) are respectively the second and third most common cause of aneuploidies, with an increase in diagnosis given the development of methods and protocols that include ultrasound and biochemical screening, with the possibility of performing a prenatal diagnosis from the fetal karyotype. These are a serious, potentially lethal polymalformative syndromes associated with a high rate of spontaneous abortion, intrauterine death and short postnatal life with early neonatal death. The present study aims to describe and analyze the natural history of these trisomies in a country where there is no consider a legal provision for therapeutic interruption in these cases. Objectives To analyze and describe the natural history of pregnancies with prenatal diagnosis of trisomy 13 and trisomy 18, identified through amniocentesis to obtain a fetal karyotype, which were performed between October 1994 and October 2017 at the Gynecology and Obstetrics Service of Hospital de Clínicas de Porto Alegre and accompanied by the Fetal Medicine Group, and thus compare the data found in this local casuistry with the current literature on the subject. Methods: Analyzed the medical records of patients who performed a fetal karyotype, through amniocentesis, for prenatal diagnosis of trisomy 13 or trisomy 18. When incomplete, telephone calls were made to complete them. The possible fetal outcomes (spontaneous abortion, fetal death and live birth), describing their natural history, and considering mainly the survival of the 16 children were born alive. Data about each patient was collected and organized (demographic, ultrasound, gestation course) in order to do a secondary analysis. Statistical analysis using SPSS version 18.0. Results: Forty-two patients were included, being 13 (31%) T13 and 29 (69%) T18. All cases had a fetal karyotype for prenatal diagnosis through amniocentesis. 92.9% of the patients were referred due to malformations detected on ultrasound. In the malformations assessment, it was found that the identification of cleft lip and / or palate (p 0.008), pyelocalycial dilatation (p 0.037) and holoprosencephaly (p <0.0001) were frequent echographic findings in T13. The abortion rate was 9% for T18, while there were no cases in T13. Fetal death occurred in 46% and 52% of cases for T13 and T18 respectively. The rate of live births was 54% for T13, and the median survival was one day [95% CI - 33.55-90.40]. 71% of the cases died in the first 24 hours and two cases that exceeded the first week of life: 14 days and 180 days respectively. For T18 the median survival was 2 days [95% CI -1.89-13.17]. Five cases (45%) died within the first 24 hours. Another 45% died in the first week. One case (10%) exceeded the month of life, with a survival of 39 days. No case in both trisomies has exceeded the year of life. Conclusions The results of this study are consistent with those referenced in the literature on the diagnosis of T13 and T18, when performed in the prenatal period. The presence of malformations in ultrasound was the most motivated the referral to specialized care and diagnostic procedures, being identified some characteristic findings that can increase the diagnostic suspicion, when detected in the ultrasound examination, mainly for trisomy 13, as they are defects of midline and pyelocalycial dilatation. In addition, it was possible to confirm the characteristics of a potentially lethal polymalformative syndrome of these trisomies when evaluated its natural history, characterized by a high rate of intrauterine fetal death and short overall survival at birth. This study will also provide important information to define management and follow-up procedures and protocols to be carried out by trained multidisciplinary teams that allow adequate preconceptional and genetic counseling processes, and thus facilitate decision making by the pregnant patient, her partner and the family. In addition, it will provide information to reassess collective health policies, opening the discussion on whether to also consider the therapeutic interruption of gestation in cases of trisomy 13 and trisomy 18, based on parental desire and judicial authorization.

Background: Talipes equinovarus, also termed club foot, is a congenital deformity of the ankle joint. Despite its prevalence of approximately 1 per 1000 live births, fetal talipes is relatively poorly studied since the introduction of percutaneous tendo Achilles tenotomies. Objectives: To document the associations, outcomes and prognosis of patients with antenatally diagnosed fetal talipes. The study aims to examine the association between, and prevalence of, fetal talipes and other abnormalities, structural and chromosomal, as well as the outcome in relation to postnatal surgery. The accuracy of prenatal ultrasound in diagnosing fetal talipes is also examined. Methods: A retrospective observational study was made of all cases presenting to the Fetal Medicine Unit between 1 January 2009 and 31 December 2014. All the identified cases were analysed to identify isolated talipes, associated abnormalities, and chromosomal abnormalities. The pregnancy outcomes were determined using the Astraia database as well as maternity records. When the outcome resulted in a live infant, these infants were followed up using the files at the referral hospital to determine the treatment method used and the number requiring surgery. Results: There were 155 cases, all referred to the Fetal Medicine Unit. Antenatal data included 75 who had other structural abnormalities and 75 who had isolated talipes. In five of the cases were no sufficient data could be found. Twenty-five cases were lost to follow-up, and 12 cases had no clubfoot at birth. Only one was labelled as having positional clubfoot. There were 91 live births. Of the cases of talipes with associated abnormalities, 21.19% were live births (excluding ENND). All terminations of pregnancy as well as 90.9% of intrauterine fetal deaths were complex talipes, and 94.52% of the cases of isolated talipes were live births. The most common associated abnormalities were of the central nervous system. Seventeen of the live births were lost to follow-up. Of the cases of isolated talipes, 53.19% had tenotomies and Ponseti treatment. The false positive rate of detecting fetal talipes on ultrasound was 7.74%. Conclusion: The study made it evident that complex talipes is associated with a poor pregnancy outcome defined as pregnancy loss, where isolated talipes is usually associated with a good pregnancy outcome. Ultrasound is a good diagnostic tool when diagnosing talipes antenatally but cannot diagnose the severity of the clubfoot. False negatives were not studied. The introduction of tenotomy can make a difference in the outcome of clubfoot in comparison with previous studies where tenotomies were not performed. Medical professionals need to address the importance of counselling, and a multidisciplinary team should be involved in cases involving prenatal counselling.