RESUMEN
We describe a case of Chlamydia abortus in a woman in rural France who was pregnant, developed severe generalized infection, and suffered fetal loss. The case stresses the need for healthcare personnel to perform thorough anamnesis in pregnant women in farming areas and to advise them to avoid contact with small ruminants.
Asunto(s)
Infecciones por Chlamydia/diagnóstico , Chlamydia/aislamiento & purificación , Atención Prenatal , Síndrome de Dificultad Respiratoria/diagnóstico , Adulto , Antibacterianos/uso terapéutico , Infecciones por Chlamydia/diagnóstico por imagen , Infecciones por Chlamydia/tratamiento farmacológico , Diagnóstico Diferencial , Doxiciclina/uso terapéutico , Femenino , Muerte Fetal , Humanos , Embarazo , Segundo Trimestre del Embarazo , Síndrome de Dificultad Respiratoria/diagnóstico por imagen , Síndrome de Dificultad Respiratoria/tratamiento farmacológicoRESUMEN
We describe two cases of sonographic abnormalities associated with unusual chromosomal aberrations. Case 1 presented with a cystic hygroma at 12 weeks' gestation. Cytogenetic analysis revealed an unbalanced complex chromosome rearrangement implicating chromosomes 6, 13 and 21 (karyotype: 47,XX,t(6;21;14)(q14;q21;q21)mat,+21) and corresponding to a complete trisomy 21. This anomaly resulted from malsegregation of a maternal balanced three-way translocation. For case 2, an alobar holoprosencephaly was identified by ultrasonography at 23 weeks' gestation. Chromosomal analysis showed a recombinant rec (13), dup q chromosome, secondary to unequal crossing-over of a paternal pericentric inversion of chromosome 13, giving rise to partial trisomy 13q (karyotype: 46,XX,rec(13)dup(13q)inv(13)(p11q21)pat). These two cases illustrate the role of ultrasound in leading to detection not only of foetal chromosomal aberrations but also of rare balanced chromosomal rearrangements presented by one of the two parents.