v - Down syndrome- Karyotype Check if a diagnosis of Down 1st Infant Progress Notes Trisomy 21 pending syndrome, Trisomy 21 is pending Possible Down syndrome (pending) 2nd Genetic Consult. Trisomy 21 Rule out (R/O) Down syndrome (pending) w - Down syndrome Karyotype Check if a diagnosis of Down See above Trisomy 21 confirmed syndrome, Trisomy 21 is Positive (confirmed) confirmed Trisomy 21 - Check if a diagnosis of a Same as Down syndrome Trisomy and then a number such x - Suspected chromosomal suspected chromosomal disorder as: disorder Karyotype confirmed 13 - syndrome is confirmed (May include Patau’s Includes any constellation of Trisomy 21.) 17 or 18 - Edward syndrome congenital malformations Positive (confirmed) resulting from or compatible with known syndromes caused by detectable defects in chromosome structure. y - Suspected chromosomal Check if a diagnosis of a Same as Down syndrome Trisomy and then a number such disorder- Karyotype pending suspected chromosomal disorder as: is pending. (May include Trisomy 13 - syndrome Patau’s Includes any constellation of 21.) 17 or 18 - Edward congenital malformations syndrome Possible Trisomy resulting from or compatible with (pending) known syndromes caused by detectable defects in chromosome Rule out (R/O) (pending) structure.
v - Down syndrome- Karyotype pending Trisomy 21 Check if a diagnosis of Down syndrome, Trisomy 21 is pending 1st Infant Progress Notes 2nd Genetic Consult. Trisomy 21 Possible Down syndrome (pending) Rule out (R/O) Down syndrome (pending) w - Down syndrome Karyotype confirmed Trisomy 21 - Check if a diagnosis of Down syndrome, Trisomy 21 is confirmed See above Trisomy 21 Positive (confirmed) x - Suspected chromosomal disorder Karyotype confirmed Includes any constellation of congenital malformations resulting from or compatible with known syndromes caused by detectable defects in chromosome structure. Check if a diagnosis of a suspected chromosomal disorder is confirmed (May include Trisomy 21.) Same as Down syndrome Trisomy and then a number such as: 13 - Patau’s syndrome 17 or 18 - Edward syndrome Positive (confirmed) y - Suspected chromosomal disorder- Karyotype pending Includes any constellation of congenital malformations resulting from or compatible with known syndromes caused by detectable defects in chromosome structure. Check if a diagnosis of a suspected chromosomal disorder is pending. (May include Trisomy 21.) Same as Down syndrome Trisomy and then a number such as: 13 - Patau’s syndrome 17 or 18 - Edward syndrome Possible Trisomy (pending) Rule out (R/O) (pending)
Guide_MPM_BC_Facility_Worksheet_Guidelines.10.14.docx