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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease trisomy 18
Comorbidity C0013080|trisomy 21
Sentences 2
PubMedID- 25251385 Of the 2785 pregnancies with a cfdna result and known trisomic status, cfdna testing correctly identified all 32 cases with trisomy 21, nine of 10 with trisomy 18 and two of five with trisomy 13, with false-positive rates of 0.04%, 0.19% and 0.07%, respectively.
PubMedID- 22495937 This study describes the cytological and epidemiological findings in 985 trisomy 13 and 2512 trisomy 18 compared with 10,255 trisomy 21 diagnoses between 2004 and 2009 included in the national down syndrome cytogenetic register of england and wales.

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