RESUMEN
We present a foetus affected by trisomy 9, a rare chromosomal disorder, which was diagnosed in a low-risk patient during the first trimester of pregnancy. The finding of multiple structural foetal anomalies at the first trimester screening prompted chorionic villus sampling. Evaluation of the quantitative fluorescent polymerase chain reaction was normal, but the final karyotype result revealed a diagnosis of trisomy 9. First trimester screening for detection of foetal anomalies is highly effective. Although rapid molecular methods are available for prenatal diagnosis of common autosomal and sex chromosome aneuploidies, it is essential to obtain a full karyotype in order to exclude the less commonly encountered chromosomal abnormalities.
Asunto(s)
Muestra de la Vellosidad Coriónica , Primer Trimestre del Embarazo , Trisomía/diagnóstico , Ultrasonografía Prenatal , Aborto Eugénico , Adulto , Cromosomas Humanos Par 9/diagnóstico por imagen , Femenino , Humanos , EmbarazoRESUMEN
Sacrococcygeal teratoma (SCT) is a congenital tumour that can be diagnosed by ultrasonography (USG). We present our experience with the management of two cases of SCT in our institution between 2008 and 2009. In the first case, SCT was diagnosed at 17 weeks' gestation. The patient was followed up with fortnightly USG to monitor the tumour size, foetal growth and signs of foetal hydrops. The patient delivered a baby girl by Caesarean section at 37 weeks, with good Apgar scores. The neonate underwent an uneventful resection of SCT on Day 1 of life. In the second case, SCT was diagnosed at 20 weeks during screening. In view of foetal hydrops and anaemia, the patient underwent three in utero foetal blood transfusions. A baby boy was delivered by Caesarean section at 28 weeks. There was a large friable SCT with massive haemorrhage. Despite maximal resuscitative efforts, the neonate died 30 minutes after birth.
Asunto(s)
Enfermedades Fetales/patología , Región Sacrococcígea/patología , Teratoma/diagnóstico por imagen , Teratoma/patología , Adulto , Resultado Fatal , Femenino , Enfermedades Fetales/diagnóstico , Edad Gestacional , Humanos , Recién Nacido , Masculino , Embarazo , Resultado del Embarazo , Teratoma/diagnóstico , Resultado del Tratamiento , Ultrasonografía PrenatalRESUMEN
We report a case of recurrent neural tube defects in a 30-year-old multigravida with no medical or family history of note. She presented with a significant history of having three (out of four) previous pregnancies affected by neural tube defects diagnosed at the 20-week foetal anomaly ultrasonographical scans, and which resulted in mid-trimester pregnancy terminations. Previous investigations for the foetuses did not yield any obvious cause. We discuss the possible differential diagnoses and aetiological factors. Rare causes of neural tube defects need to be excluded in recurrent cases with no obvious aetiology.
Asunto(s)
Defectos del Tubo Neural/diagnóstico , Adulto , Diagnóstico Diferencial , Femenino , Humanos , Defectos del Tubo Neural/fisiopatología , Embarazo , Diagnóstico Prenatal , Recurrencia , Medición de Riesgo , Factores de RiesgoRESUMEN
OBJECTIVE: Amniotic sheets are the result of uterine synechiae that have been encompassed by the expanding chorion and amnion. Radiologically they are seen as 'shelves' in the amniotic cavity. The benign nature of such amniotic sheets has been documented in many case series in the literature. The objective of this study was to determine the characteristics (if any) of amniotic sheets that predict fetal outcome. METHODS: Between January 2001 and December 2002, detailed scans were performed in 30 476 singleton pregnancies at 18-32 weeks' gestation. Of these, 44 cases of amniotic sheets were detected. The characteristics studied were site of amniotic sheet and whether the amniotic sheet was complete (i.e. no free edge seen on ultrasound) or incomplete (i.e. presence of free edge seen on ultrasound). The primary fetal outcome studied was stillbirth. RESULTS: The incidence of amniotic sheets was 0.14%. Two were complete and 42 were incomplete. Of the 38 cases with known outcomes there were two intrauterine deaths. There was no association between fetal outcome and the uterine location of the amniotic sheet (i.e. upper two-thirds vs. lower third, P = 0.5). There was, however, an association between the completeness of the amniotic sheets and intrauterine death (P = 0.002). Both instances of intrauterine death occurred in the two cases with complete amniotic sheets. Postmortem examination suggested that cord accidents were the cause of intrauterine death in both cases. CONCLUSIONS: This study supports the view that incomplete amniotic sheets are benign. It also suggests for the first time that complete amniotic sheets may be associated with intrauterine death.
Asunto(s)
Amnios/anomalías , Complicaciones del Embarazo/etiología , Adulto , Amnios/diagnóstico por imagen , Síndrome de Bandas Amnióticas/diagnóstico por imagen , Síndrome de Bandas Amnióticas/etiología , Femenino , Humanos , Recién Nacido , Embarazo , Complicaciones del Embarazo/diagnóstico por imagen , Resultado del Embarazo , Estudios Retrospectivos , Ultrasonografía Prenatal/métodosRESUMEN
INTRODUCTION: We report a case of idiopathic chronic fetomaternal haemorrhage (FMH) that developed in the late trimester. CLINICAL PRESENTATION: The patient presented with decreased fetal movement at 38 weeks gestation. Antenatal follow-up was uneventful with normal serial ultrasound performed at 22 and 35 weeks. Prior to delivery, the cardiotocography (CTG) was abnormal with decreased baseline variability and late deceleration. Emergency lower segment caesarean section was performed. Upon delivery, a hydropic neonate with a haemoglobin level of 3.9 g/dL was noted. The Kleihauer-Betke test was positive, confirming FMH. OUTCOME: The neonate later developed intraventricular haemorrhage (IVH) and spastic cerebral palsy on follow-up. DISCUSSION: It is possible for FMH to occur late at the third trimester leading to detrimental effect. The fact that FMH can occur without antecedent risk factors underscores the importance of further research, and a high index of suspicion.