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Yin-Jou Chou Chia-Yu Ou Te-Yao Hsu Chia-Wei Liou Cheng-Feng Lee Dan-Ju Tso Yau-Huei Wei 《黑龙江环境通报》2004,24(5):367-370
We prenatally diagnosed MELAS syndrome in a fetus whose mother and older brother had the MELAS-specific A3243G mutation. The mutant mtDNA level of the amniotic fluid cells was not significantly different from that of the postnatal peripheral blood and hair follicle samples. The obstetrical course was uncomplicated except for transient exacerbation of the mother's diabetes, which required insulin control. At term, the infant was macrosomic, and the delivery was complicated by shoulder dystocia. MELAS syndrome in itself does not influence either the prenatal course of the mother or the fetal outcome. In contrast to the fulminating clinical course of this mother's first child, MELAS symptoms did not develop in her second child until age four, despite similar high tissue levels of mutant mtDNA. The phenotypic diversity in two offspring with similar higher levels of mutant mtDNA suggests that prenatal genetic diagnosis of cultured amniotic cells may yield results that are poor prognosticators of fetal outcome. Copyright © 2004 John Wiley & Sons, Ltd. 相似文献
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T. Van den Bosch D. Van Schoubroeck J. P. Fryns G. Naulaers A. M. Inion K. Devriendt 《黑龙江环境通报》2002,22(5):415-417
This report describes the prenatal findings in monozygotic twins with Costello syndrome. At 16 weeks one twin had 9 mm of nuchal oedema: coarctation of the aorta was diagnosed after birth. At 225/7 weeks relative macrocephaly, mild pyelectasia and moderate polyhydramnios were noted in both twins. In the following 4 weeks the polyhydramnios increased significantly without visualisation of filling of the stomach. Between 275/7 and 302/7 weeks a total of 9 l amniotic fluid was drained and at 304/7 weeks prelabor premature rupture of membranes (PPROM) occurred followed by premature labor and delivery. The neonatal period was complicated by growth retardation, deglutition problems, hypotonia, cardiac and respiratory problems. Both twins died on Day 57 because of respiratory insufficiency. Copyright © 2002 John Wiley & Sons, Ltd. 相似文献
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