title: Sex and congenital malformations: an international perspective.
abstract: 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.
authors.affiliation: International Centre on Birth Defects, Rome, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Lisi
authors.forename: Lorenzo D
authors.initials: LD
authors.lastname: Botto
authors.forename: Monica
authors.initials: M
authors.lastname: Rittler
authors.forename: Eduardo
authors.initials: E
authors.lastname: Castilla
authors.forename: Sebastiano
authors.initials: S
authors.lastname: Bianca
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Bianchi
authors.forename: Beverley
authors.initials: B
authors.lastname: Botting
authors.forename: Hermien
authors.initials: H
authors.lastname: De Walle
authors.forename: J David
authors.initials: JD
authors.lastname: Erickson
authors.forename: Miriam
authors.initials: M
authors.lastname: Gatt
authors.forename: Catherine
authors.initials: C
authors.lastname: De Vigan
authors.forename: Lorentz
authors.initials: L
authors.lastname: Irgens
authors.forename: William
authors.initials: W
authors.lastname: Johnson
authors.forename: Paul
authors.initials: P
authors.lastname: Lancaster
authors.forename: Paul
authors.initials: P
authors.lastname: Merlob
authors.forename: Osvaldo M
authors.initials: OM
authors.lastname: Mutchinick
authors.forename: Annukka
authors.initials: A
authors.lastname: Ritvanen
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Robert
authors.forename: Gioacchino
authors.initials: G
authors.lastname: Scarano
authors.forename: Claude
authors.initials: C
authors.lastname: Stoll
authors.forename: Pierpaolo
authors.initials: P
authors.lastname: Mastroiacovo
mesh_terms: D000015:Abnormalities, Multiple; D005260:Female; D006801:Humans; D038622:Internationality; D008297:Male; D012042:Registries / Q000706:statistics & numerical data*; D017678:Sex Distribution; D014314:Trisomy