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We describe a patient with a significantly elevated serum alphafetoprotein (AFP) concentration at 17 weeks of gestation, who showed only a marginally increased amniotic fluid AFP and lacked the second rapidly migrating band of acetylcholinesterase electrophoresis. Ultrasound examination revealed an encephalocele and ventriculomegaly. Autopsy showed that the encephalocele was not covered by skin. 相似文献
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An abnormal fetal karyotype, containing a del 16(q21-qter) as an extra chromosome, was diagnosed in all 14 metaphases examined in a sample of chorionic villous biopsy material. After elective abortion a mosaicism for this cell-line together with a normal one was detected in the chorionic tissue. Fibroblast cultures from several fetal skin biopsies all revealed a normal karyotype. 相似文献
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Dr Simon E. Meagher Nicholas M. Fisk Jonathan G. Harvey Geoffrey F. Watson Antheunis Boogert 《黑龙江环境通报》1993,13(6):495-501
Congenital bronchopulmonary malformations detectable on prenatal ultrasound include cystic adenomatoid malformation (CAM), lobar sequestration, and upper airway atresia. We describe three fetuses with prenatally detected intrathoracic lesions in which the associated pulmonary hyperechogenicity disappeared before delivery. In the first case of pulmonary sequestration, the infant was asymptomatic after birth. However, in a case of CAM and another with laryngeal atresia, respiratory distress developed after delivery, despite recent scans showing apparently normal lung fields. This experience suggests that ultrasonic resolution of hyperechogenic lung lesions in utero does not necessarily indicate resolution of the underlying pathology. 相似文献
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