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.

  • José Martínez-Jabaloyas

    Firstly, I want to congratulate to the authors
    for this excellent work. According to results we can suppose that CFTR
    mutations can predispose to an increased risk of miscarriage or stillbirth, but
    I think that to extrapolate that it is consequence of CFTR mutation “per se” is
    risked. It is possible the association of CFTR mutation with other genetic
    anomalies, or that the long time congenital obstruction could deteriorate the
    germinal line. The authors propose that CFTR gene mutation screening should become a routine part of the investigation of all OA. I think that it is not necessary in patients with OA post-vasectomy or of infectious aetiology, but it can be important in
    idiopathic OA. In the other hand, the frequency of CFRT mutations in patients
    with OA and non-CVAVD in Chinese patients presented in the study is similar to
    the general Caucasian people. So, according to the authors’ proposal we should
    perform a CFTR screening test to every male needing an ICSI for assisted
    reproduction.

  • Impressive series considring the rarity of CF and CF carrier status in China. Does increase our ability to counsel our patients with CF or CF carrier status on their increased risks of miscarriage and still births with IVF/ICSI despite being able to achieve a clinical pregnancy. This highlights our continued need to improve our understanding of the genetics behind the condition and why this affects genetic development and ultimately the live baby rate.

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