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BACKGROUND: Chiari malformation is one of the most common Central nervous system (CNS) abnormalities that can be detected in routine fetal scanning. Chiari malformation type I (CMI) is a congenital defect characterized by a displacement of the cerebellar tonsils through the foramen magnum. The etiology of CMI has not been well established and suggested having multifactorial contributions, especially genetic deletion. Clinical characteristics of this anomaly may express in different symptoms from neurological dysfunction and/or skeletal abnormalities in the later age, but it is rarely reported in pregnancy. CASE PRESENTATION: We present a case in which the Chiari malformation type I was diagnosed with comorbidities of facial anomalies (flatting forehead and micrognathia) and muscular-skeletal dysmorphologies (clenched hands and clubfeet) at the 24+6 weeks of gestation in a 29-year-old Vietnamese pregnant woman. The couple refused an amniocentesis, and the pregnancy was followed up every 4 weeks until a spontaneous delivery occurred at 38 weeks. The newborn had a severe asphyxia and seizures at birth required to have an emergency resuscitation at delivery. He is currently being treated in the intensive neonatal care unit. He carries the novel heterozygous NFIA gene mutation confirmed after birth. No further postnatal malformation detected. CONCLUSION: CMI may only represent with facial abnormalities and muscle-skeletal malformations at the early stage of pregnancy, which may also alert an adverse outcome. A novel heterozygous NFIA gene mutation identified after birth helps to confirm prenatal diagnosis of CMI and to provide an appropriate consultation.
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Malformación de Arnold-Chiari , Masculino , Embarazo , Femenino , Recién Nacido , Humanos , Adulto , Malformación de Arnold-Chiari/diagnóstico , Malformación de Arnold-Chiari/genética , Factores de Transcripción NFI/genética , Diagnóstico Prenatal , Amniocentesis , Mutación , Imagen por Resonancia MagnéticaRESUMEN
This study investigates the effect of GnRHa pretreatment on pregnancy outcomes in artificial endometrial preparation for frozen-thawed embryo transfer (AC-FET) cycles. A systematic review of English language studies published before 1 September 2022, was conducted, excluding conference papers and preprints. Forty-one studies involving 43,021 participants were analyzed using meta-analysis, with a sensitivity analysis ensuring result robustness. The study found that GnRHa pretreatment generally improved the clinical pregnancy rate (CPR), implantation rate (IR), and live birth rate (LBR). However, discrepancies existed between randomized controlled trials (RCTs) and observational studies; RCTs showed no significant differences in outcomes for GnRHa-treated cycles. Depot GnRHa protocols outperformed daily regimens in LBR. Extended GnRHa pretreatment (two to five cycles) significantly improved CPR and IR compared to shorter treatment. Women with polycystic ovary syndrome (PCOS) saw substantial benefits from GnRHa pretreatment, including improved CPR and LBR and reduced miscarriage rates. In contrast, no significant benefits were observed in women with regular menstruation. More rigorous research is needed to solidify these findings.
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BACKGROUND: Vaginal lymphangioma is an extremely rare lesion. Lymphangioma in other areas is usually asymptomatic, and bleeding is a common complication and presentation. CASE: We describe the identification of a vaginal lymphangioma in a 47-year-old woman and discuss the histopathology, diagnosis, and management, based on colposcopy and histology results. CONCLUSION: Vaginal lymphangioma should be identified by histopathology to exclude other malignant tumours in the vagina and to plan appropriate therapy.
Contexte : Le lymphangiome vaginal est une lésion extrêmement rare. Lorsqu'il affecte d'autres parties du corps, le lymphangiome est habituellement asymptomatique; les saignements en constituent une complication et une présentation courantes. Cas : Nous décrivons l'identification d'un lymphangiome vaginal chez une femme de 47 ans et nous discutons de son histopathologie, de son diagnostic et de sa prise en charge, en fonction des résultats de la colposcopie et de l'histologie. Conclusion : Le lymphangiome vaginal devrait être identifié par histopathologie afin d'écarter la présence possible d'autres tumeurs malignes dans le vagin et de planifier un traitement adéquat.
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Linfangioma/diagnóstico , Neoplasias Vaginales/diagnóstico , Ácido Acético , Colposcopía , Femenino , Humanos , Linfangioma/cirugía , Persona de Mediana Edad , Neoplasias Vaginales/cirugíaRESUMEN
Epstein-Barr virus (EBV) infection in pregnancy and consequent fetal outcomes are rarely reported. The majority of cases described strongly support the possibility of transmission of this virus in utero and during delivery, resulting in stillbirth and/or congenital defects. We present a case of EBV reactivation in pregnancy that caused a severe symmetrical fetal growth restriction (FGR) and ultimately spontaneous fetal death. A 36-year-old woman, whose infection status was undetermined, was diagnosed with severe FGR at 24 weeks' gestation. The fetal karyotype was normal. EBV DNA was detected in the amniotic fluid and maternal immunoglobulin G antibodies were positive. At 30 weeks' gestation, the fetus died spontaneously. Placental examination found evidence of deciduitis and villitis. Reactivation of EBV infection appears to be related to FGR and warrants further research to determine the optimal management strategy in pregnancy.
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Infecciones por Virus de Epstein-Barr/virología , Muerte Fetal , Retardo del Crecimiento Fetal/virología , Complicaciones Infecciosas del Embarazo/virología , Mortinato , Adulto , Líquido Amniótico/virología , Infecciones por Virus de Epstein-Barr/diagnóstico , Femenino , Retardo del Crecimiento Fetal/diagnóstico , Humanos , Embarazo , Complicaciones Infecciosas del Embarazo/diagnósticoAsunto(s)
Feto/anatomía & histología , Hueso Nasal/embriología , Adolescente , Adulto , Estudios Transversales , Femenino , Desarrollo Fetal , Edad Gestacional , Humanos , Persona de Mediana Edad , Hueso Nasal/diagnóstico por imagen , Hueso Nasal/crecimiento & desarrollo , Embarazo , Segundo Trimestre del Embarazo , Estudios Prospectivos , Vietnam/epidemiología , Adulto JovenRESUMEN
AIMS: The purpose of this study was to define the most suitable cut-off point for fetal nuchal translucency thickness in a screening program for aneuploidy and trisomy 21 in the south of Vietnam. MATERIAL & METHODS: Two thousand and five hundred cases of singleton pregnancies were followed prospectively from the first trimester to the delivery. The rate of aneuploidy was calculated by seeking a relationship to increased fetal nuchal translucency thickness then calculating the sensitivity and specificity of different cut-off points in thickness measurement to find the most suitable point for screening. RESULTS: The prevalence of fetal abnormality was 1.5% (95% CI 1.1-2.1), and 1.2% (95% CI 0.8-1.7) of aneuploidy cases found and the commonest was trisomy 21. A cut-off point at 2.4 mm showed the highest level of sensitivity and specificity for the detection of aneuploidy (65.5 and 95.7%) and trisomy 21 (75.0 and 95.1%), with a false-positive rate of 4.3 and 4.9%, respectively. CONCLUSION: Using a cut-off point of nuchal translucency at 2.4 mm has potential for aneuploidy and trisomy 21 screening in the south of Vietnam.
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Aneuploidia , Síndrome de Down/diagnóstico , Medida de Translucencia Nucal/métodos , Adulto , Síndrome de Down/diagnóstico por imagen , Femenino , Humanos , Embarazo , Sensibilidad y Especificidad , Ultrasonografía Prenatal , VietnamRESUMEN
Pena-Shokeir phenotype is a lethal anomaly characterized by neurogenic arthrogryposis, craniofacial anomalies, and pulmonary hypoplasia. This syndrome should be distinguished from trisomy 18 and arthrogryposis multiplex congenita for better counseling and establishing fetal prognosis. We present the case of a pregnant woman diagnosed with a Pena-Shokeir phenotype affected fetus at 24 weeks of gestation. Prenatal ultrasonography and fetal magnetic resonance imaging detected persistent hyperextension of the lumbar spine, micrognathia, absent septum pellucidum, and all characteristic features of Pena-Shokeir phenotype. Karyotyping was performed to exclude fetal chromosomal anomalies. Antenatal ultrasonography is an essential tool in the diagnosis of Pena-Shokeir phenotype while fetal magnetic resonance imaging is necessary to identify any associated anomalies of central nervous system.