Concordance Rates of Birth Defects After Assisted Reproductive Technology Among 17 258 Japanese Twin Pregnancies: A Nationwide Survey, 2004^|^ndash;2009

Abstract

BackgroundMost 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.MethodsUsing 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.ResultsAt 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.ConclusionsThe present findings suggest that familial aggregation is a factor in some birth defects.

Insights from one thousand cloned dogs

“…This is in accordance with human medical observations from twin studies, where cleft palate occurs at a higher frequency from non-genetic causes than inherited ones. This is evident by a greater number of discordant affected monozygotic pairs than mutually affected ones 38 . This phenotype has been observed in a few cloned animals, born amongst unaffected cloned littermates.…”

A donor twin discordant with Peters anomaly in a twin–twin transfusion syndrome case: a case report

“…In literature, there was ever one discordant donor PA reported in a TTTS case, [ 7 ] where the PA was diagnosed after delivery without a prenatal image. TTTS is a complication of monochorionic twin pregnancies, so both fetuses share nearly the same genetic make–up; the concordance rate for any birth defect is higher in monozygotic twin pairs compared with dizygotic twin pairs [ 8 ]. Though a portion of PA had been reported associated with a genetic abnormality, [ 1 ] a majority of cases lack a genetic diagnosis [ 4 ].…”

Incidence and anatomy of cardiac malformations in children conceived by assisted reproduction techniques - A review

“…The impact of congenital anomalies related to the techniques of ART depends on several factors, including its prevalence, the quality and availability of medical and surgical treatment, the risk factors and the effectiveness of primary prevention measures. The knowledge of the most prevalent anomalies and possible risk factors may allow early intervention seeking primary prevention and positively impacting the quality of life of the child and family (Ooki, 2013). Although the contributions of the techniques of ART, some issues have been discussed as potential risk suffered by children born from these procedures, such as congenital heart defects.…”

“…The knowledge of the most prevalent anomalies and possible risk factors may allow early intervention seeking primary prevention and positively impacting the quality of life of the child and family ( Ooki, 2013 ).…”