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

Capsule:
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.

Authors:
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

Abstract:

Objective:
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.

Design:
Retrospective study with detailed chart review.

Setting:
Center for reproductive medicine.

Patient(s):
Nine hundred forty-five men with obstructive azoospermia.

Intervention(s):
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.

Result(s):
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.

Conclusion(s):
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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