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

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.

Keywords: Intracytoplasmic sperm injection; congenital bilateral absence of vas deferens; cystic fibrosis transmembrane-conductance regulator gene; obstructive azoospermia; pregnancy.