BackgroundAchondrogenesis type IA (ACG1A) is a rare, lethal autosomal recessive chondrodysplasia affecting endochondral bone ossification and differentiation, causing intrauterine growth restriction, narrow thorax, and short limbs. Mutations in TRIP11, which encodes Golgi microtubule-binding protein 210 in the Golgi apparatus, alter protein transport in tissues.Case presentationA 28-week gestation male fetus was diagnosed with ACG1A by clinical, radiological, histologic, and molecular findings.ResultsWhole exome sequencing was performed on fetal DNA and parental blood. Two fetal heterozygous novel variants of TRIP11, c.2304_2307delTCAA (p.Asn768Lysfs*7) and c.2128_2129delAT (p.lle710Cysfs*19), were inherited from the mother and father, respectively. Both variants created a reading frameshift leading to a premature stop codon and loss of protein function.ConclusionTo our knowledge, this is the first Latin American report with clinical, radiographic, and molecular diagnosis of ACG1A. Clinical and molecular diagnosis in utero is essential for genotype–phenotype correlation and is useful for providing better genetic counseling.
RepoRte de caso Rev Colomb Obstet Ginecol 2017;68:71-82 RESUMENObjetivo: reportar dos casos de embarazo ectópico abdominal avanzado, con buen resultado materno / perinatal, y revisar la literatura disponible con respecto al manejo de la placenta y el pronóstico de esta entidad. Materiales y métodos: se describen dos casos de embarazo ectópico abdominal avanzado en los que se realizó extracción de la placenta, con feto viable y resultado perinatal favorable. Estos fueron atendidos en una institución de cuarto nivel de complejidad, Recibido: junio 14/16 -Aceptado: marzo 3/17 ubicada en la ciudad de Cali, Colombia. Se realizó una revisión de la literatura registrada en las bases de datos Medline vía PubMed, con los términos de búsqueda: "embarazo abdominal", "embarazo esplénico", "embarazo hepático", "embarazo omental" y "embarazo peritoneal". La búsqueda se limitó a artículos publicados durante los últimos doce años en inglés y español. Resultados: se recuperaron 228 referencias, de las cuales 42 artículos cumplieron con los criterios de inclusión que informan un total de 74 pacientes con embarazo ectópico abdominal. En cuanto al manejo de la placenta, la remoción de la misma se informó en 42 casos (58%). La mortalidad materna se presentó en 4 casos (4,1%), todos por hemorragia posparto. Un total de 60 pacientes (81%) presentaron complicaciones, la más frecuente fue hemorragia en 38 de ellas (51%). En cuanto al resultado perinatal, se encontró una mortalidad perinatal del 43%. Conclusión: el manejo de la placenta es el punto clave del que podría depender la frecuencia de complicaciones maternas. Se requieren estudios prospectivos que evalúen el manejo más seguro y efectivo de esta condición. Palabras clave: embarazo abdominal, embarazo ectópico, hemorragia, resultado del embarazo. ABSTRACTObjective: Report two cases of advanced ectopic abdominal pregnancy with good maternal/perinatal outcomes, and to review the literature available regarding the management of the placenta and the prognosis for this condition. Materials and methods: Description of two cases of advanced ectopic abdominal pregnancies with viable fetuses and favourable perinatal outcomes, in which the placenta was removed. The cases were seen at a Level IV institution in the city of Cali, Colombia. Review of the literature registered in the Medline data base via Pubmed using the search terms "abdominal pregnancy", "splenic pregnancy", "hepatic pregnancy", "omental pregnancy" and "peritoneal pregnancy". The search was limited to articles published in English and Spanish during the past 12 years. Results: Overall, 228 references were retrieved, of which 42 articles reporting on a total of 74 patients with ectopic abdominal pregnancy met the inclusion criteria. Regarding the management of the placenta, it was removed in 42 cases (58%). There were 4 cases of maternal mortality (4,1%) all of them due to postpartum bleeding. Complications occurred in 60 patients (81%), bleeding being the most frequent in 38 of them (51%). As for perinatal outcome, peri...
As a result of improvements in ultrasound image quality and scanning technique, an increasing number of subtle morphological changes in fetal anatomy have been identified in the second trimester. Most of these ultrasound features were originally described as normal variants of development with no clinical significance. However, subsequent studies in high-risk populations showed that some of these variants were more prevalent in fetuses with chromosomal defects and therefore proposed as prenatal markers for the detection of aneuploidy. The implications for pregnancy management when one of these so-called minor ultrasound markers is detected have been a matter of continuous controversy in the field of prenatal diagnosis and yet the definitive answer on their clinical significance in the low-risk population is still debated.
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