Abstract:
BACKGROUND:Most twins after assisted reproductive technology (ART) are dizygotic. Analysis of dizygotic twin pairs is useful in assessing familial aggregation in the development of birth defects. METHODS:Using nationwide post-ART data from the Japan Society of Obstetrics and Gynecology, recurrence risk ratios (RRRs)-defined as probandwise concordance rates of birth defects in twins divided by the prevalence of birth defects in the general population-were calculated as indicators of familial aggregation. Birth defects were then reclassified according to the ICD-10 categories corresponding to codes Q00-Q99. From 2004 to 2009, there were 17 258 twin pregnancies. RESULTS:At least 1 birth defect was noted in 236 twin pairs: 11 concordant and 225 discordant pairs. Regarding major organ systems, high probandwise concordance rates were observed for congenital malformations of eye, ear, face, and neck (11.8%), cleft lip and cleft palate (10.5%), congenital malformations of the nervous system (9.8%), and other congenital malformations of the digestive system (9.5%). High RRRs were observed for congenital malformations of eye, ear, face, and neck (RRR = 233), specifically other congenital malformations of the ear (RRR = 449); congenital malformations of the great arteries (RRR = 235), specifically those of the patent ductus arteriosus (RRR = 530); and for cleft lip and cleft palate (RRR = 208), specifically cleft palate with cleft lip (RRR = 609). The probandwise concordance rate of any birth defect (8.9%) was nearly identical to the approximated recurrence risk of sib-pairs (8.8%), which assumed multifactorial inheritance. CONCLUSIONS:The present findings suggest that familial aggregation is a factor in some birth defects.
journal_name
J Epidemioljournal_title
Journal of epidemiologyauthors
Ooki Sdoi
10.2188/jea.je20120103subject
Has Abstractpub_date
2013-01-01 00:00:00pages
63-9issue
1eissn
0917-5040issn
1349-9092pii
DN/JST.JSTAGE/jea/JE20120103journal_volume
23pub_type
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