22q11.2 Deletion Syndrome in Offspring Conceived via Assisted Reproductive Technology Versus Spontaneously.

Area of Science:

• Genetics
• Reproductive Medicine
• Pediatrics

Background:

• Chromosome 22q11.2 deletions, often de novo, arise from non-allelic homologous recombination (NAHR).
• While 22q11.2 deletion syndrome (22q11.2DS) phenotypes are known, NAHR risk factors, including assisted reproductive technology (ART), are unclear.

Purpose of the Study:

• To investigate the prevalence of ART conceptions in patients with 22q11.2DS.
• To compare medical comorbidities and perinatal outcomes between ART-conceived and spontaneously conceived (SC) patients with 22q11.2DS.

Main Methods:

• Retrospective analysis of 1184 patients with confirmed de novo 22q11.2 deletions.
• ART conception included in vitro fertilization (IVF) with or without intracytoplasmic sperm injection (ICSI).
• Examination of deletion size, obstetric, family, and medical histories.

Main Results:

• ART conception prevalence in 22q11.2DS patients (2.57%) was similar to the US general population rate (2.3%).
• No significant differences in deletion size or perinatal outcomes (preterm birth, congenital heart disease) between ART and SC groups.
• ART-conceived neonates were more likely to require ICU admission (aOR = 6.3).

Conclusions:

• ART pregnancies resulting in 22q11.2DS show similar prevalence and perinatal outcomes to the general population.
• Non-allelic homologous recombination (NAHR) is not associated with ART in individuals with 22q11.2DS.
• These findings offer reassurance to families conceiving via ART who have children diagnosed with 22q11.2DS.