Table 1

 OA/TOF epidemiological data

Depaepe et al14Robert et al2Torfs et al15
*Fraction of cases with isolated OA/TOF expressed as a percentage of all cases; †includes chromosome cases.
NS, not stated; NTD, neural tube defect.
Geographical locationEuropeWorldwideCalifornia
Total births1 546 88910 541 9941 035 384
AscertainmentLive births, fetal deaths,Live births, still birthsLive births and
induced abortionswith gestational age 28stillbirths
completed weeks
or more
Number of cases4422693292
Incidence/10 0002.862.552.82
Isolated cases*45.0%57.3%38.7%
Sex ratio (isolated cases)62% male56.5% male52.2% male
Chromosomal cases
    Trisomy 13121
    Trisomy 18218719
    Trisomy 2122728
    Total44 (10.0%)170 (6.3%)29 (9.6%)
Associated/syndromal cases†: other malformations
    Cardiac malformation20.4%13.2%34%
    Renal malformation14.0%4.9%NS
    CNS defect (excluding NTD)NS1.4%NS
    Axial skeleton defect21.2%6.6%NS
    Limb reduction defect19.2%4.7%NS
    Anal atresia/stenosis11.6%10.4%16.4%
    Genital anomaly3.0%2.9%NS
    Eye malformationNS1.2%NS
    Cleft lip/palate3.4%2.9%NS