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1.
J Hum Genet ; 67(5): 261-265, 2022 May.
Artículo en Inglés | MEDLINE | ID: mdl-34974528

RESUMEN

The incidence of chromosomal abnormalities in twin pregnancies is not well-studied. In this retrospective study, we investigated the frequency of chromosomal abnormalities in twin pregnancies and compared the incidence of chromosomal abnormalities in dichorionic diamniotic (DD) and monochorionic diamniotic (MD) twins. We used data from 57 clinical facilities across Japan. Twin pregnancies of more than 12 weeks of gestation managed between January 2016 and December 2018 were included in the study. A total of 2899 and 1908 cases of DD and MD twins, respectively, were reported, and the incidence of chromosomal abnormalities in one or both fetuses was 0.9% (25/2899) and 0.2% (4/1908) in each group (p = 0.004). In this study, the most common chromosomal abnormality was trisomy 21 (51.7% [15/29]), followed by trisomy 18 (13.8% [4/29]) and trisomy 13 (6.9% [2/29]). The incidence of trisomy 21 in MD twins was lower than that in DD twins (0.05% vs. 0.5%, p = 0.007). Trisomy 21 was less common in MD twins, even when compared with the expected incidence in singletons (0.05% vs. 0.3%, RR 0.15 [95% CI 0.04-0.68]). The risk of chromosomal abnormality decreases in twin pregnancies, especially in MD twins.


Asunto(s)
Trastornos de los Cromosomas , Síndrome de Down , Aneuploidia , Aberraciones Cromosómicas , Trastornos de los Cromosomas/epidemiología , Trastornos de los Cromosomas/genética , Síndrome de Down/epidemiología , Síndrome de Down/genética , Femenino , Humanos , Embarazo , Embarazo Gemelar , Prevalencia , Estudios Retrospectivos , Trisomía/genética
2.
J Obstet Gynaecol Res ; 41(11): 1826-30, 2015 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-26223441

RESUMEN

Although the role of interventional radiology in the field of obstetrical hemorrhage has been widely reported upon recently, the rate of procedure-related complications has not been fully determined. We present the case of a patient who developed an external iliac artery thrombosis, a rarely reported complication associated with prophylactic common iliac artery balloon occlusion (CIABO). After CIABO, we found that the dorsalis pedis artery of the right foot was weak and the foot was cold, despite the fact that the patient had no complaints. Computed tomography demonstrated a linear thrombus in the right external iliac artery. We managed the patient conservatively using a heparin drip without the need for thromboembolectomy. Our experience suggests that it is important to consider the risk of thrombosis formation after CIABO. Physical examination post-procedure is key to identifying this complication early.


Asunto(s)
Oclusión con Balón/efectos adversos , Pérdida de Sangre Quirúrgica/prevención & control , Cesárea/efectos adversos , Histerectomía/efectos adversos , Arteria Ilíaca/diagnóstico por imagen , Placenta Accreta/cirugía , Trombosis/etiología , Adulto , Oclusión con Balón/métodos , Cesárea/métodos , Femenino , Humanos , Histerectomía/métodos , Imagen por Resonancia Magnética , Placenta Accreta/diagnóstico por imagen , Embarazo , Trombosis/diagnóstico por imagen , Ultrasonografía Prenatal
3.
J Perinat Med ; 42(4): 499-505, 2014 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-24413214

RESUMEN

AIM: To determine the factors affecting neonatal prognosis in preterm premature rupture of membranes (PPROM). METHOD: We conducted a case-control study involving 92 women between the years 2000 and 2010 diagnosed with PPROM between 25 and 31 weeks' gestation, who received antenatal steroids, and delivered between 26 and 31 weeks' gestation; a retrospective cohort study was conducted based on the results. We used data from four tertiary centers and compared the frequencies of neonatal neurologic deficits and neonatal deaths. RESULTS: There was a difference between the two groups; specifically, the ND group (n=18) consisted of patients whose infants had neurologic deficits and/or neonatal deaths and the neurologically normal (NN) group (n=74) included NN neonates amongst the patients who had expectant management (94% vs. 73%, respectively). Multivariable analysis revealed that expectant management was independently associated with an increased risk for neonatal neurologic deficits and neonatal deaths (odds ratio, 16.14). All neonates with poor prognosis in the expectant-management group delivered within 14 days after PPROM. CONCLUSIONS: Expectant management within 14 days after PPROM is associated with poor neonatal outcomes. Decisions regarding an expectant strategy should be made carefully. An immediate, planned delivery after steroid administration should be considered to improve neonatal prognosis in patients who have PPROM after 26 weeks' gestation.


Asunto(s)
Rotura Prematura de Membranas Fetales/terapia , Glucocorticoides/administración & dosificación , Nacimiento Prematuro , Adulto , Betametasona/administración & dosificación , Estudios de Casos y Controles , Estudios de Cohortes , Parto Obstétrico , Dexametasona/administración & dosificación , Femenino , Edad Gestacional , Humanos , Lactante , Mortalidad Infantil , Recién Nacido , Enfermedades del Prematuro/epidemiología , Enfermedades del Sistema Nervioso/epidemiología , Embarazo , Pronóstico , Estudios Retrospectivos , Resultado del Tratamiento
5.
J Obstet Gynaecol Res ; 38(1): 192-7, 2012 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-21995621

RESUMEN

AIM: To evaluate the relationship between cervical length (CL) and obstetrical outcome in women with placenta previa. MATERIAL AND METHODS: Eighty uncomplicated, singleton pregnancies with an antenatally diagnosed previa were categorized based on CL of over 30mm (n=60) or 30mm or less (n=20). A retrospective chart review was then performed for these cases to investigate the relationship between CL and maternal adverse outcomes. RESULTS: The mean CL was 38.5±5.4mm and 26.9±3.2mm and the mean gestational age at measurement was 29.2±2.7 and 28.5±2.7weeks of gestation for the longer and shorter CL groups, respectively. The median estimated blood loss at cesarean section (CS) was significantly higher in the shorter CL group (1302mL vs 2139mL, P=0.023) as was the percentage of patients with massive intraoperative hemorrhage (60.0 vs 18.3%, P=0.001). In the shorter versus longer CL patients, emergent CS before 37weeks (23.3 vs 50.0%, P=0.046) and the percentage of patients with placental adherence (6.7 vs 35.0%, P=0.004) were both significantly more frequent in the shorter CL group. The shorter CL was a risk factor both for massive estimated blood loss (≥2000mL) (odds ratio 6.34, 95% confidence interval 1.91-21.02, P≤0.01) and placental adherence (odds ratio 6.26, 95% confidence interval 1.23-31.87, P≤0.05) in the multivariate analysis. CONCLUSION: CL should be included in the assessment of a placenta previa given its relationship to emergent CS, cesarean hysterectomy, intraoperative blood loss and placental adherence.


Asunto(s)
Medición de Longitud Cervical , Cuello del Útero/diagnóstico por imagen , Placenta Previa/diagnóstico por imagen , Placenta/diagnóstico por imagen , Hemorragia Uterina/diagnóstico por imagen , Adulto , Femenino , Humanos , Valor Predictivo de las Pruebas , Embarazo , Resultado del Embarazo , Diagnóstico Prenatal , Estudios Retrospectivos , Factores de Riesgo , Ultrasonografía Prenatal
6.
J Med Case Rep ; 16(1): 203, 2022 May 13.
Artículo en Inglés | MEDLINE | ID: mdl-35562809

RESUMEN

BACKGROUND: Gaucher disease is an autosomal recessive inborn error of metabolism that causes disorders of blood, bone, and central nervous system as well as hepatosplenomegaly. We present the case of a carrier of Gaucher disease with gestational thrombocytopenia and anemia that required blood transfusion therapy. CASE PRESENTATION: A 24-year-old Nepalese primipara was diagnosed with idiopathic thrombocytopenia at 12 weeks of gestation. Her platelet count had reduced to 30,000/µL at 21 weeks of gestation, and the hemoglobin content reduced to 7.6 g/dL at 27 weeks of gestation. As she did not respond to any medication, blood transfusion was performed. A female infant weighing 2677 g was delivered vaginally at 39 weeks of gestation. On the 78th day of puerperium, the platelet count of the mother recovered to 101,000/µL, and the hemoglobin content recovered to 12.5 g/dL. The infant had convulsions, respiratory depression, wheezing, systemic purpura, and exfoliation of the epidermis at birth. The infant was diagnosed with Gaucher disease at 37 days of age and passed away at 82 days of age. Subsequently, the parents were diagnosed as carriers of Gaucher disease. CONCLUSION: As carriers of this disease do not usually show symptoms, it is imperative to provide information regarding disease management for future pregnancies.


Asunto(s)
Anemia , Enfermedad de Gaucher , Complicaciones Hematológicas del Embarazo , Trombocitopenia , Adulto , Anemia/complicaciones , Femenino , Enfermedad de Gaucher/complicaciones , Enfermedad de Gaucher/diagnóstico , Hemoglobinas , Humanos , Lactante , Recién Nacido , Embarazo , Complicaciones Hematológicas del Embarazo/diagnóstico , Complicaciones Hematológicas del Embarazo/terapia , Trombocitopenia/etiología , Adulto Joven
7.
Acta Cytol ; 54(5 Suppl): 787-92, 2010.
Artículo en Inglés | MEDLINE | ID: mdl-21053541

RESUMEN

BACKGROUND: Intravascular lymphoma is a rare subtype of extranodal lymphoma. Most instances of the disease are of B-cell lineage. Diagnosis is difficult because of its nonspecific clinical signs, and many cases are diagnosed at autopsy. Uterine involvement is rare, and it is commonly manifested as genital bleeding. In this case, the chief complaint was fever, which is also very rare. CASE REPORT: A 62-year-old woman presented with fever of unknown origin. Computed tomography revealed no localized lesion except for swelling of the right internal iliac nodes. A cytologic smear of the endometrium by liquid-based cytology demonstrated malignant cells. Based on the curettage material, the lesion was diagnosed as an undifferentiated malignant tumor. Total abdominal hysterectomy with bilateral salpingo-oophorectomy and pelvic/paraaortic lymphadenectomy revealed widely scattered lymphoma cells of B-cell lineage mainly in the vascular lumina of the uterus, right ovary and lymph nodes. CONCLUSION: The final histologic type was established on the basis of the surgical material of hysterectomy. Diagnosis was difficult because of prominent cellular atypia and rare location of the tumor. Immunocytochemical examination of liquid-based samples can lead to a correct diagnosis of malignant lymphoma, even at the stage of endometrial cytologic examination.


Asunto(s)
Técnicas Citológicas/métodos , Endometrio/irrigación sanguínea , Endometrio/patología , Linfoma de Células B/patología , Neoplasias Uterinas/patología , Agregación Celular , Diagnóstico Diferencial , Neoplasias Endometriales/diagnóstico , Neoplasias Endometriales/patología , Femenino , Humanos , Inmunohistoquímica , Linfoma de Células B/diagnóstico , Persona de Mediana Edad , Miometrio/diagnóstico por imagen , Miometrio/patología , Ovario/patología , Células del Estroma/patología , Ultrasonografía , Neoplasias Uterinas/diagnóstico
8.
Early Hum Dev ; 83(3): 177-81, 2007 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-16828536

RESUMEN

Despite the longstanding conclusion that behavior can reveal aspects of underlying anatomy and function, no generalized antenatal behavior screening has been developed to identify fetuses that may have central nervous system defects requiring further evaluation. We devised a brief ultrasound examination to distinguish fetuses with compromised central nervous system function from the general population and evaluated it with this study. The study design compared behavioral findings obtained by retrospectively reviewing the ultrasound examinations of 5 fetuses that had abnormal behavior with prospectively obtained findings of 29 normal fetuses. Median time for brief examination criteria was 50 min (range, 30-60 min). The only case undetectable by this brief ultrasound examination has an eye-movement period significantly longer than the normal upper limit. Using this method as a screening test may make it possible to include assessment of fetal brain function as part of routine antenatal care.


Asunto(s)
Sistema Nervioso Central/anomalías , Enfermedades Fetales/diagnóstico , Movimiento Fetal/fisiología , Ultrasonografía Prenatal/métodos , Femenino , Humanos , Embarazo
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