Expanded carrier screening- exam pro Flashcards
Recommended carrier screening for
Africian american, africian, southeast asia, southern european
ACOG- CF, Hemoglobinopathies
ACMG- CF, SMA
Recommended carrier screening for Ashkenazi Jewish
ACOG- CF, Canavan, Familial dysautonomia, tay sach
ACMG- CF, SMA, bloom, canavan, familial dysautonomia, fanconi anemia, gaucher, mucolipidosis, niemann pick, tay sachs
Recommended carrier screening cajun or french canadian
ACOG- CF, Tay Sachs
ACMG -CT, SMA
Recommended carrier screening all others
ACOG- CF
ACMG- CF, SMA
CF by race - incidence, carrier frequency, carrier DR, AT risk detection rate Northern European Southern European Jewish Hispanic African American Asian
incidence, carrier frequency, carrier DR, AT risk detection rate
Northern European 1:25,000, 1/25, 85-90%,80%
Southern European 1:25,000, 1/25, 70%, 50%
Jewish 1:2500, 1/25, 97%, 95%
Hispanic 1:8000, 1/48, 57%, 32%
African American 1:14,500, 1/60, 72%, 50%
Asian 1:32,000, 1/90, 30%, 10%
Basic- Jewish/northern european good detection. AA/ souther european some detection- hispanic/asian no detection!
Fragile x
Prevalence of full mutation - male/female
carrier rate- male/female
Prevalence of full mutation - male 1: 1,250 /female 1:2000
carrier rate- male 1:755/female 1:260 or lower (Jewish)
Premutation effects on carriers of Fragile X
women- Premature ovarian failure in 20% (14% of familial premature ovarian failure)
Males- fragile x associated tremor, short term memory loss, executive function deficits, cognitive dcline, peripheral neuropathy, muscle weakness, age related 30% over 50
a thal
4- normal 3- silent carrier 2- alpha thal trait 1- hb H disease 0- barts/hydrops
asian- more likely to be cis with 2
pt has ecs and than has a deletion what could have been missed
unmasked by a microdeletion or disrupted by a structural reaarrangement
