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- W2044893521 abstract "Increased nuchal translucency between 10 and 14 weeks of gestation has now been established as a marker for chromosomal defects in several large-scale studies. In addition, a growing number of structural defects and some rare genetic syndromes have been identified in association with this marker. We describe a case of a fetus with increased nuchal translucency at 12 weeks of gestation, in which second-trimester evaluation by ultrasound showed an enlarged cisterna magna, a ventricular septal defect and moderate signs of dysmorphia. Karyotyping by chorionic villus sampling revealed a high rate of chromosomal breaks. The diagnosis of Fanconi anemia with early onset was confirmed following the development of severe postnatal anemia 2 months after birth." @default.
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- W2044893521 date "2001-02-01" @default.
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- W2044893521 title "Fanconi anemia associated with increased nuchal translucency detected by first-trimester ultrasound" @default.
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- W2044893521 doi "https://doi.org/10.1046/j.1469-0705.2001.00321.x" @default.
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