RESUMO
Anti-KEL7 (anti-Js(b)) is a rare antibody that has been related to haemolytic transfusion reactions and HDN. We report a case of anti-KEL7 alloimmunization detected in a pregnant woman who had an obstetric previous history of four miscarriages and one stillborn. Employing classical immunohematological techniques, we studied the propositus and her available relatives. Due to the unavailability of commercial anti-KEL6 and anti-KEL7 reagents, we used a KEL*6,7 genotyping method as an alternative tool to contribute with the identification of the alloantibody origin. The results of KEL genotyping showed that the propositus was KEL*6/6 homozygous, while her second partner was KEL*7/7 homozygous.
Assuntos
Incompatibilidade de Grupos Sanguíneos/genética , Morte Fetal/genética , Isoanticorpos/sangue , Sistema do Grupo Sanguíneo de Kell/genética , Complicações na Gravidez/diagnóstico , Complicações na Gravidez/imunologia , Adulto , Incompatibilidade de Grupos Sanguíneos/diagnóstico , Incompatibilidade de Grupos Sanguíneos/imunologia , Pré-Escolar , Eritrócitos/imunologia , Feminino , Genótipo , Homozigoto , Humanos , Recém-Nascido , Isoanticorpos/genética , Sistema do Grupo Sanguíneo de Kell/imunologia , Masculino , Pessoa de Meia-Idade , Linhagem , Fenótipo , Reação em Cadeia da Polimerase/métodos , Gravidez , Complicações na Gravidez/genética , Gravidez de Alto Risco/imunologia , Reação TransfusionalRESUMO
OBJECTIVE: To review animal and human data available regarding the etiology, maternal and fetal impact, and treatment of intrahepatic cholestasis of pregnancy (ICP). METHODS: Pertinent studies on human and animal models of ICP were selected through a MEDLINE database search, focusing on etiology and clinical impact of the disease. Analytic and descriptive studies were included, and the data were analyzed looking for crude numbers. RESULTS: Intrahepatic cholestasis of pregnancy is a pregnancy-specific disorder. Its prevalence is higher in Chile and Sweden compared with any other population. Its etiology is largely unknown, although endocrine, genetic, and environmental factors have been postulated as responsible for the appearance of the disease. Maternal effects of ICP are mild; however, there is a clear association between ICP and poor perinatal outcome, including a higher frequency of fetal distress, preterm labor and delivery, and unexplained fetal death. The treatment is mainly symptomatic. Recent data suggest that oral use of ursodeoxycholic acid improves maternal condition and might prevent the fetal complications of ICP. CONCLUSIONS: Intrahepatic cholestasis of pregnancy should be considered a high-risk condition, and careful fetal assessment and appropriate medical intervention might improve perinatal outcome.
Assuntos
Colestase Intra-Hepática/etiologia , Complicações na Gravidez/etiologia , Colagogos e Coleréticos/uso terapêutico , Colestase Intra-Hepática/genética , Colestase Intra-Hepática/patologia , Estrogênios/metabolismo , Feminino , Morte Fetal/etiologia , Morte Fetal/genética , Morte Fetal/patologia , Predisposição Genética para Doença , Humanos , Masculino , Gravidez , Complicações na Gravidez/patologia , Ácido Ursodesoxicólico/uso terapêuticoAssuntos
Morte Fetal/genética , Oxirredutases atuantes sobre Doadores de Grupo CH-NH/genética , Mutação Puntual/genética , Disrafismo Espinal/genética , Canadá , Troca Genética/genética , Etnicidade/genética , Europa (Continente)/etnologia , Feminino , Frequência do Gene/genética , Humanos , Recém-Nascido , Masculino , Metilenotetra-Hidrofolato Redutase (NADPH2) , Americanos Mexicanos/genética , México/etnologia , Polimorfismo Genético/genética , Reprodutibilidade dos Testes , Tamanho da Amostra , Estados UnidosRESUMO
Holoprosencephaly (HPE) is genetically heterogeneous with four genes, SIX3, SHH, TGIF, and ZIC2 that have been identified to date and that are altered in 12% of patients. To analyze this prevalence in a South American population-based sample (57 HPE cases in 244,511 live and still births or 1 in 4300), we performed a mutational study of these genes in 30 unrelated children (26 newborns and 4 non-newborns) with HPE being ascertained by ECLAMC (Latin American Collaborative Study of Congenital Malformations). We identified three novel mutations: two were missense mutations of the SHH gene (Cys183-->Phe; His140-->Pro); the third mutation was a 2-bp deletion in the zinc-finger region of the ZIC2 gene. These molecular results explained 8% (2/26 newborn samples) of the HPE cases in this South American population-based sample, a proportion similar to our previously published data from a collection of cases.
Assuntos
Holoprosencefalia/genética , Mutação , Transativadores/genética , Fatores de Transcrição/genética , Sequência de Bases , DNA/genética , Análise Mutacional de DNA , Feminino , Morte Fetal/genética , Genética Populacional , Proteínas Hedgehog , Holoprosencefalia/epidemiologia , Humanos , Lactente , Recém-Nascido , Masculino , Mutação de Sentido Incorreto , Proteínas Nucleares , Deleção de Sequência , América do Sul/epidemiologiaRESUMO
We report a female stillborn with typical clinical, radiological, and anatomopathological features of Blomstrand chondrodysplasia. The main findings in this lethal osteochondrodysplasia are osteosclerosis and advanced skeletal maturation. Autosomal recessive inheritance has been proposed because of parental consanguinity of affected siblings in all reported cases, including this one. Histopathological study of the bones confirmed the advanced skeletal maturation radiological features. We also review this rare lethal osteochondrodysplasia.
Assuntos
Osteocondrodisplasias/genética , Adulto , Consanguinidade , Feminino , Morte Fetal/genética , Genes Letais , Genes Recessivos , Humanos , Osteocondrodisplasias/diagnóstico por imagem , Osteocondrodisplasias/patologia , Osteosclerose/genética , Linhagem , Gravidez , RadiografiaRESUMO
Os autores apresentam um caso de infertilidade de seis anos, com história de perda reprodutiva na 17ª semana de gestaçao, associada a translocaçao equilibrada tipo Robertsoniana 13/13 em um dos cônjuges.
Assuntos
Humanos , Masculino , Feminino , Gravidez , Adulto , Aborto Espontâneo/genética , Morte Fetal/genética , Infertilidade/genética , Translocação GenéticaRESUMO
Diferentes investigadores han coincidido en que las parejas que presentan abortos espontáneos recurrentes, niños previos con malformaciones múltiples y/o muertes fetales, tienen una relativa alta frecuencia de reordenamientos cromosómicos balanceados. Se estudiaron 562 parejas con antecedentes de abortos espontáneos y pérdidas fetales recurrentes: se detectaron 17 casos positivos para una frecuencia de portadores en la población estudiada de 3,02 %. Se les ofreció asesoramiento genético a todos los casos portadores de alteraciones cromosómicas sobre los riesgos en futura descendencia
Assuntos
Gravidez , Humanos , Feminino , Aborto Habitual/genética , Anormalidades Congênitas/genética , Morte Fetal/genéticaRESUMO
We investigated the fetal mortality in 903 sibships with at least one member having cleft lip with or without cleft palate [CL(P)] and 213 with at least one individual affected with cleft palate (CP) derived from three different data sources in México. The frequency of fetal wastage (abortion and/or stillbirth) was not increased in sibships where the propositi had cleft lip and palate (CLP) as compared with cleft lip (CL) nor in those where index cases had a bilateral lesion as compared to a unilateral one, nor when the index cases with CL(P) were female rather than males, nor when the index case was a female with bilateral lesion as compared to males with a unilateral one. Similarly fetal mortality was not increased in sibships in which the propositus had CP compared to those in which the index case was a female. These findings are contrary to some reports that claim to support a two-threshold model according to which individuals reaching the first one would be born with an oral cleft, and those reaching the second would be aborted. Our results, together with others, suggest the possibility that liability to oral clefts is independent of liability to fetal wastage.
Assuntos
Fenda Labial/genética , Fissura Palatina/genética , Morte Fetal/genética , Aborto Espontâneo/genética , Feminino , Morte Fetal/epidemiologia , Humanos , Masculino , México , Modelos Genéticos , Gravidez , Razão de Masculinidade , Estatística como AssuntoRESUMO
The excess risks of morbidity and precocious mortality for the offspring of incestuous matings and of matings of uncles-nieces and aunts-nephews, first cousins, first cousins once removed, and second cousins have been estimated as 32%, 18%, 9%, 5%, and 2.5%, respectively. These estimates are based on the theory of Morton et al [1956], assuming a damage (genetic and nongenetic) of 20% for the offspring of nonconsanguineous couples and two "deleterious" equivalents per gamete. Other possibilities (a damage of 40%; 2.5 deleterious equivalents per gamete), a partition of the total risk into prenatal and postnatal events, and some aspects of the inbreeding theory are also presented. Comments intended for persons interested in counseling are provided.
Assuntos
Consanguinidade , Aconselhamento Genético , Morbidade , Mortalidade , Adolescente , Brasil , Criança , Pré-Escolar , Anormalidades Congênitas/genética , Feminino , Morte Fetal/genética , Frequência do Gene , Humanos , Incesto , Lactente , Mortalidade Infantil , Recém-Nascido , Deficiência Intelectual/genética , Masculino , Gravidez , RiscoRESUMO
Spontaneous embryonic lethality and the recessive lethal gene frequency in the gene pool of noninbred mice and rats of the bioteria of the National Research Center of the Cuba Republic Academy of Sciences were investigated. It was established that the level of spontaneous embryonic lethality among mice increased greatly as compared to that in 1977 and was 40% (versus 20% in 1977). Of this number, 30% falls within the postimplantation period. In noninbred rats, these values constituted 21.4 and 8.1%, respectively. High embryonic lethality among noninbred mice may be determined by genetic causes and the influence of ecological factors. The frequency of recessive lethals among noninbred mice was 28%, that among rats 20.8%. It is characteristic that in both categories, recessive lethals became apparent only in the postimplantation period of embryogenesis.