Sex and congenital malformations: an international perspective.
The study evaluated the sex distribution of major isolated malformations and common trisomies among a large and geographically varied sample. Eighteen registries from 24 countries contributed cases, which were centrally reviewed and classified in three clinical types as isolated, associated, or syndromic. We selected cases of 26 major defects (n = 108,534); trisomy 21, 18, and 13 (n = 30,114); other syndromes (n = 2,898); and multiple congenital anomalies (n = 24,197), for a total of 165,743 cases. We observed a significant deviation of sex distribution (compared to a sex ratio of 1.06 or male proportion of 51.4%) for 24 of the 29 groups (a male excess in 16, a female excess in 8), and in 8 of such groups these estimates varied significantly across registries. A male excess was noted for two left obstructive cardiac defects (hypoplastic left heart and coarctation of the aorta) and a female excess for all the main types of neural tube defects. A male excess was seen for omphalocele but not gastroschisis. For neural tube defects the female excess tended to be stronger in areas with historically high prevalence for these defects. For 15 of the 26 birth defects the sex distribution differed among isolated, associated, and syndromic cases. Some of these epidemiologic commonalities are consistent with known or putative developmental processes. Further, the geographic variation for some defects may reflect local prevalence rates and risk factors. Finally, the findings underscore the need for clinical classification (e.g., into isolated, multiple, syndromes) in studies of birth defects.
Lisi
Alessandra
A
International Centre on Birth Defects, Rome, Italy.
Botto
Lorenzo D
LD
Rittler
Monica
M
Castilla
Eduardo
E
Bianca
Sebastiano
S
Bianchi
Fabrizio
F
Botting
Beverley
B
De Walle
Hermien
H
Erickson
J David
JD
Gatt
Miriam
M
De Vigan
Catherine
C
Irgens
Lorentz
L
Johnson
William
W
Lancaster
Paul
P
Merlob
Paul
P
Mutchinick
Osvaldo M
OM
Ritvanen
Annukka
A
Robert
Elisabeth
E
Scarano
Gioacchino
G
Stoll
Claude
C
Mastroiacovo
Pierpaolo
P
D000015:Abnormalities, Multiple; D005260:Female; D006801:Humans; D038622:Internationality; D008297:Male; D012042:Registries / Q000706:statistics & numerical data*; D017678:Sex Distribution; D014314:Trisomy