Assisted reproductive technology may increase clinical mutation detection in male offspring.
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.
Feng
Chun
C
Department of Reproductive Endocrinology, Women's Hospital, School of Medicine, Zhejiang University, Zhejiang, China.
Wang
Li-Quan
LQ
Dong
Min-Yue
MY
Huang
He-Feng
HF
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*