Similar genetic profiles in technology-assisted, naturally conceived births

Key takeaways :

• Neonates conceived naturally or via technology-assisted birth had similar genetic defect and de novo variant incidences.
• These findings provide insight for those considering assisted reproductive technology.

Newborns in the NICU conceived naturally and through assisted reproductive technology had similar types of genetic diagnoses and incidence of de novo genetic variants, researchers reported in JAMA Network Open.

“Although assisted reproductive technology is considered well established, the health of children conceived through assisted reproductive technology remains a global concern,” Zhongwen Huang, MM, from the Center for Molecular Medicine at the Children’s Hospital of Fudan University at the National Children’s Medical Center, Shanghai, and colleagues wrote. “Previous studies have shown an increased risk of adverse perinatal outcomes, birth defects, developmental disorders, epigenic alterations and childhood cancer among children conceived through assisted reproductive technology compared with children conceived spontaneously.”

To compare the rate of genetic diagnoses among newborns conceived through assisted reproductive technology (ART) and those conceived naturally, researchers used data from the China Neonatal Genomes Project on 535 neonates who were conceived through ART with suspected genetic conditions from level III and IV NICUs. Researchers also analyzed data from 1,316 neonates who were naturally conceived with suspected genetic conditions in the same clinical settings. Researchers performed whole-exome sequencing or target clinical exome sequencing with pathogenic or likely pathogenic single-nucleotide variant and copy number variation detection for each neonate.

The primary outcome was the molecular diagnostic yield, mode of inheritance, spectrum of genetic events and de novo variant incidence.

Researchers observed no significant differences in genetic profiles between the two groups. Researchers established a genetic diagnosis among 10.1% neonates who were conceived through ART, in which 63% had single-nucleotide variants and 37% had copy number variations. Among neonates who were conceived naturally, 13.2% received a genetic diagnosis, with 69% of those having single-nucleotide variants and 31% with copy number variations.

Among neonates conceived through ART and those who were naturally conceived, overall diagnostic yield (OR = 0.74; 95% CI, 0.53-1.02), the proportion of single-nucleotide variants (OR = 0.68; 95% CI, 0.46-1) and copy number variations (OR = 0.91; 95% CI, 0.54-1.53) were all comparable.

Researchers also noted similar proportions of de novo variants among neonates conceived through ART and those conceived naturally (75.9% vs. 64.4%; OR = 0.89; 95% CI, 0.62-1.3).

“This study will provide insight for physicians and couples considering ART,” the researchers wrote.