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. Author manuscript; available in PMC: 2013 Dec 1.
Published in final edited form as: Am J Med Genet A. 2012 Nov 19;158A(12):3087–3100. doi: 10.1002/ajmg.a.35638

Table IV.

Data related to Fanconi anemia testing attitudes.

Frequency of Fanconi anemia testing
Never 21 (17%)
< 25% 59 (49%)
25–50% 12 (10%)
50–75% 10 (8%)
>75% 11 (9%)
Always 8 (7%)

What prompts Fanconi anemia testinga?
Radial/limb abnormalities 80 (66%)
Poor growth 29 (24%)
Hematologic anomalies 21 (17%)
Microcephaly 20 (17%)
Pigmentary anomalies 14 (12%)
Family history (pertaining to consanguinity and/or ethnic origin) 8 (7%)
Developmental delay/cognitive impairment 7 (6%)
Dysmorphic facies 4 (3%)
Non-VACTERL type anomaliesb 3 (2%)
Family history of breast cancer 2 (2%)
Agec 2 (2%)
Presence of esophageal anomalies 2 (2%)
Absence of esophageal anomalies 1 (1%)
Malignancy 1 (1%)
Recurrent infections 1 (1%)
Symmetrical malformations 1 (1%)
a

Each response could yield a result of up to 121 (100% of respondents); some respondents listed multiple findings that would prompt Fanconi anemia testing.

b

Examples given included cleft lip/palate and ocular anomalies.

c

One respondent wrote that young age would prompt Fanconi anemia testing, while the other wrote that old age would prompt testing.