Table II.

Definitions and diagnostic criteria.

Term used
VACTERL	78 (64%)
VATER	43 (36%)
Component features considered to be defining featuresa,b
V	112 (93%)
A	109 (90%)
C	99 (82%)
TE	116 (96%)
R	103 (85%)
L	86 (71%)
Number of component features considered to be defining
At least 2	18 (15%)
At least 3	95 (79%)
At least 4	8 (7%)
Other diagnostic criteria used besides the number of component featuresa
Absence of signs of overlapping conditions	23 (19%)
Absence of chromosomal anomaliesc	13 (11%)
Normal cognitive development	10 (8%)
Absence of dysmorphic features	10 (8%)
Use of a “weighted” scored	7 (6%)
Spatially disparate malformations	6 (5%)
Limb malformations only used if radial	3 (2%)
Presence of genitourinary anomalies	2 (2%)
Single umbilical artery	2 (2%)
Absence of brain malformations	2 (2%)
Presence of tracheo-esophageal fistula or esophageal atresia	2 (2%)
Presence of both vertebral and gastrointestinal anomalies	2 (2%)
Maternal/gestational diabetes mellitus	1 (1%)
Would the presence of dysmorphic facial features alter the diagnostic impression?
Yes	95 (79%)
No	26 (21%)
Would the presence of otherwise unexplained neurocognitive impairment alter the diagnostic impression?
Yes	97 (80%)
No	24 (20%)

^aEach individual component feature could yield a result of up to 121 (100% of respondents).

^bWhen asked to list whether any other component features were used (see also below), 3 (2%) listed single umbilical artery, 2 (2%) listed radial anomalies as part of limb abnormalities, and 1 each (1% each) listed genitourinary anomalies and spatially disparate (eg, occurring “above and below the diaphragm”) anomalies.

^cBy karyotype or microarray.

^dBy “weighted”, respondents indicated that certain features “count” more than others, such as tracheo-esophageal fistula being weighted more heavily than cardiac malformations.