Abstract
We report a personal experience of first-trimester prenatal diagnosis of Ellis-van Creveld (EvC) syndrome based on typing of microsatellite markers flanking the EvC locus. An heterozygous fetus was diagnosed with a diagnostic accuracy of 96 per cent. The DNA prediction was confirmed by ultrasound at 22 weeks of gestation and by clinical evaluation at birth.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Ellis-Van Creveld Syndrome / diagnosis*
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Ellis-Van Creveld Syndrome / genetics*
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Female
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Genetic Linkage*
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Genetic Markers
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Gestational Age*
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Heterozygote
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Humans
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Microsatellite Repeats*
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Pedigree
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Pregnancy
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Pregnancy Trimester, First
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Prenatal Diagnosis*
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Ultrasonography, Prenatal