Association of cystic fibrosis transmembrane-conductance regulator gene mutation with negative outcome of intracytoplasmic sperm injection pregnancy in cases of congenital bilateral absence of vas deferens
Cystic fibrosis transmembrane-conductance regulator mutations were observed to have higher prevalence in men with congenital bilateral absence of vas deferens and were associated with increased risk of miscarriage and stillbirth.
Shaoming Lu, M.D., Yanyi Cui, M.Sc., Xiao Li, M.B., Haobo Zhang, M.D., Jiaolong Liu, M.B., Bin Kong, M.B., Feifei Cai, M.B., Zi-Jiang Chen, M.D., Ph.D.
Volume 101, Issue 5, Pages 1255–1260.e1
To evaluate intracytoplasmic sperm injection (ICSI) results with regard to congenital bilateral absence of vas deferens (CBAVD) versus non-CBAVD obstruction, cystic fibrosis transmembrane-conductance regulator (CFTR) mutations versus non-CFTR mutations, and miscarriages or stillbirths versus live births per embryo transferred.
Retrospective study with detailed chart review.
Center for reproductive medicine.
Nine hundred forty-five men with obstructive azoospermia.
One thousand four hundred fourteen ICSI cycles classified as CBAVD versus non-CBAVD obstruction, CFTR mutations versus non-CFTR mutations, and miscarriages/stillbirths versus live births per embryo transferred.
Main Outcome Measure(s):
Frequency of CFTR mutations and rates of fertilization, good embryos, clinical pregnancy, miscarriages and stillbirths, ectopic pregnancy, and live births.
CFTR mutations were more prevalent in men with CBAVD than in those with non-CBAVD obstruction. The rate of miscarriages and stillbirths per embryo transferred was higher in men with CBAVD than in those with non-CBAVD obstruction, whereas the rate of live births per embryo transferred was lower in men with CBAVD than in those with non-CBAVD obstruction. The rate of miscarriages and stillbirths per embryo transferred was higher in men with CFTR mutations than in those with non-CFTR mutations. The frequency of CFTR mutations was higher in patients who experienced miscarriages/stillbirths than in those with live births.
The frequency of CFTR mutations was higher in cases of CBAVD versus non-CBAVD obstruction. Possibly as a result of CFTR mutations, patients with CBAVD had a significantly increased risk of miscarriage and stillbirth and a reduced rate of live birth compared with patients with non-CBAVD.
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