De novo chromosomal abnormalities and month of conception

Abstract

The relationship between chromosomal abnormalities and the month of conception could turn out to be useful in estimating the actual risk in pregnancy, if confirmed by other studies. The observed June lowest rate might indicate an association between chromosomal abnormalities and the maximum number of daylight hours throughout the year (summer solstice). We cannot explain the unusual findings concerning Robertsonian translocations that were only found for conceptions in December. This may be related to the annual minimum daylight hours (winter solstice) as opposed to the summer solstice.

The Relationship between Human Embryo Parameters and De Novo Chromosomal Abnormalities in Preimplantation Genetic Testing Cycles

“…Recently, Vera-Rodríguez et al investigated whether the origin of mitosis is the cause of embryonic segment aneuploidy at the blastocyst stage [ 9 ]. In our study, the incidence of de novo segmental-chromosome abnormalities increased as the trophoblastic grade decreased, which was similar to previous studies [ 18 , 56 ]. Whole-chromosome abnormalities are probably due to a high incidence of meiosis errors [ 54 ], which shows a strong association with increasing female age.…”

“…Some studies on de novo chromosome abnormalities have focused on the prenatal diagnosis involving fetal components such as amniotic fluid, the chorionic villus, or fetal blood in the prenatal diagnosis [ 13 , 14 ] or on the incidence of newborns carrying de novo chromosome abnormalities [ 15 , 16 ]. Others have examined the relationship between the incidence of de novo chromosome abnormalities and the month of conception [ 17 ] or the incidence of de novo segmental aneuploidy in PGT-A cycles [ 18 ].…”

Exploring the seasonality of birth defects in the New York State Congenital Malformations Registry

“…These findings are consistent with other seasonality analyses of ventricular septal defect, endocardial cushion defect, and renal defect (Bound et al,1989). There have been mixed results of seasonality reported in the literature for encephalocele (Castilla et al,1990; Roux et al,2009), anotia and microtia (Castilla et al,1990; Liu et al,2011), pulmonary valve atresia or stenosis (Bound et al,1989; Bosshardt et al,2005; Siffel et al,2005), biliary atresia (Caton et al,2004; The et al, 2004; Wada et al,2007; Yoon et al,1997; Livesey et al,2009), and trisomy 18 (Gadow et al,2006; Tonelli et al,2006). In contrast, there have been only negative reports of hydrocephalus (Sandahl, 1977b; Castilla et al,1990), congenital cataract (Haargaard et al,2005), transposition of the great arteries (Bound et al,1989), coarctation of the aorta (Bound et al,1989; Tikkanen and Heinonen,1993), and limb reduction (Bound et al,1989).…”