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Congenital heart disease (CHD) is one of the commonest prenatal diagnoses made on routine ultrasound screening. Overall, up to 33% of CHD are associated with fetal aneuploidy. However, some specific cardiac lesions have a significantly greater association with particular chromosomal abnormalities. The majority of fetuses with CHD and aneuploidy also have extra-cardiac anomalies and are best managed by a multidisciplinary team where the management and prognosis of the cardiac defect can be discussed in the context of the baby as a whole. It is therefore important for clinicians involved in the management of fetuses with CHD to be aware of the association of aneuploidy as well as the prognosis and management of these cases, so that they can appropriately counsel the parents. In this chapter, we review the frequency and types of aneuploidy associated with the commonly diagnosed CHD and discuss their management. Copyright © 2004 John Wiley & Sons, Ltd. 相似文献
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R. Douglas Wilson 《黑龙江环境通报》2008,28(7):619-625
Fetal thoracic lung anomalies are rare. The specific diagnosis can be made by utilizing ultrasound, magnetic resonance imaging (MRI), and Doppler studies. Perinatal surveillance is required for large lesions and mediastinal shift regardless of the pathological diagnosis. These can cause physiological changes in the cardiovascular system with resulting hydrops. In utero therapies are variable but with no large randomized trials to compare risks and benefits. In most cases of fetal lung lesions, continued observation with postnatal therapy is the outcome. When fetal hydrops is present or impending, in utero fetal therapy is required to try to reverse that pathological course associated with fetal or neonatal death. Maternal morbidity is increased with the development of MIRROR syndrome following the presence of long-standing fetal hydrops and possible surgical procedures. Copyright © 2008 John Wiley & Sons, Ltd. 相似文献
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Dr. Waldo Sepulveda Konstantinos D. Stagiannis Phillip M. Cox Jonathan S. Wigglesworth Nicholas M. Fisk 《黑龙江环境通报》1995,15(7):660-664
Amyoplasia is a rare, sporadic condition characterized by different degrees of maldevelopment of the skeletal muscles, which are replaced by fibrous and fatty tissue. In this report, we present a case of generalized amyoplasia presenting at 19 weeks' gestation. The most striking finding was the absence of fetal movements, resulting in severe multiple congenital contractures, hydrops, and polyhydramnios. At autopsy, histological examination of the skeletal muscle showed small groups of poorly developed fibres within areas of fat. This report suggests that generalized amyoplasia could be a common cause of severe forms of multiple congenital contractures, but is probably underdiagnosed at post-mortem because of inadequate examination of muscles. Definitive diagnosis is important in determining the risks of recurrence in these cases. 相似文献
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