title: Assisted reproductive technology may increase clinical mutation detection in male offspring.
abstract: OBJECTIVE
  To investigate the risks of chromosome mutation after ART for couples with comparable genetic backgrounds.
  
  
  METHODS
  Prospective clinical observational study.
  
  
  METHODS
  In vitro fertilization center at a tertiary-care, university-affiliated teaching hospital.
  
  
  METHODS
  Ninety-seven male children whose fathers have normal spermatogenesis were recruited, including 19 babies conceived through IVF, 18 babies conceived through intracytoplasmic sperm injection (ICSI), and 60 naturally conceived babies, as well as the babies' fathers.
  
  
  METHODS
  Collection of peripheral and umbilical cord blood samples.
  
  
  METHODS
  The Yq genetic status of the babies and fathers according to 13 Y-specific markers covering four azoospermia factor (AZF) subregions, the karyotype, and the neonatal examination.
  
  
  RESULTS
  We found that all children had a normal 46, XY karyotype, but de novo Y-chromosome microdeletions were identified in 1 (5.3%) of 19 IVF offspring and in 3 (16.7%) of 18 ICSI offspring. The incidence of de novo Y-chromosome microdeletion in male children conceived through ICSI or IVF was statistically significantly higher than that in those conceived naturally (10.8% vs. 0). In four babies with microdeletion, one was complicated, with hypospadias.
  
  
  CONCLUSIONS
  Our results, for the first time, indicate that risks of gene mutation may increase in the ART offspring, even though their fathers have normal spermatogenesis and genetic background. Hence, intense attention should be placed on genetic safety in the ART children, and the benefits and risks of adopting ART should be balanced gingerly.
authors.affiliation: Department of Reproductive Endocrinology, Women's Hospital, School of Medicine, Zhejiang University, Zhejiang, China.
authors.forename: Chun
authors.initials: C
authors.lastname: Feng
authors.forename: Li-Quan
authors.initials: LQ
authors.lastname: Wang
authors.forename: Min-Yue
authors.initials: MY
authors.lastname: Dong
authors.forename: He-Feng
authors.initials: HF
authors.lastname: Huang
mesh_terms: D000328:Adult; D002872:Chromosome Deletion; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D005260:Female; D005307:Fertilization in Vitro / Q000009:adverse effects*; D006801:Humans; D007021:Hypospadias / Q000235:genetics; D007231:Infant, Newborn; D007248:Infertility, Male / Q000235:genetics* / Q000503:physiopathology; D007621:Karyotyping; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011446:Prospective Studies; D018570:Risk Assessment; D012307:Risk Factors; D012729:Sex Chromosome Aberrations; D020554:Sperm Injections, Intracytoplasmic / Q000009:adverse effects*; D013091:Spermatogenesis / Q000235:genetics*