Papanikolaou E G, Vernaeve V, Kolibianakis E, Assche E Van, Bonduelle M, Liebaers I, Van Steirteghem A, Devroey P
Centre for Reproductive Medicine, Centre for Medical Genetics, AZ-VUB, University Hospital, Dutch-speaking Brussels Free University.
Hum Reprod. 2005 Oct;20(10):2899-903. doi: 10.1093/humrep/dei151. Epub 2005 Jun 15.
There is no agreement about the frequency of chromosomal abnormalities (CAs) in the female partner of an infertile couple and therefore there is no evidence base for determining whether karyotype analysis is mandatory before the initiation of infertility treatment. The aim of this prospective study was to estimate the prevalence of karyotype abnormalities in normovulatory women attending an infertility clinic and compare it to that known to be present in the newborn female population.
Cytogenetic testing was performed in 1206 women with normal ovulatory cycle seeking infertility treatment. At least 15 GTG-banded metaphases were analysed in each case. In the case of a structural abnormality, fluorescent in situ hybridization (FISH) analysis and high resolution banding (HRB) were performed on a new blood sample to elucidate the aberration. When mosaicism was suspected, the number of analysed metaphases was increased to a total of 115 and an additional analysis of 200 metaphases was done on a second blood sample.
A chromosomal abnormality was demonstrated in 0.58% (95% CI: 0.28-1.19) of cases which did not differ significantly from that reported in female newborns (0.79%; 95% CI: 0.68-0.94). Balanced reciprocal translocation was observed in 0.4% of patients (n = 5), paracentric inversion of chromosome X in 0.08% (n = 1) and gonosomal mosaicism in 0.08% (n = 1). However, chromosomal aberrations were less common among females with primary infertility compared to those with secondary infertility (0.25 versus 1.25%, P = 0.04).
The present study suggests that routine cytogenetic analysis cannot be advocated in normovulatory infertile women. Nevertheless, the relatively higher frequency of abnormal karyotypes in women with secondary infertility indicates that this subgroup of patients might benefit from a routine karyotype analysis.
对于不育夫妇中女性伴侣染色体异常（CA）的发生率尚无定论，因此也没有证据支持在开始不育治疗前确定核型分析是否为强制性检查。这项前瞻性研究的目的是估计在不育门诊就诊的排卵正常女性中核型异常的患病率，并将其与已知的新生女性人群中的患病率进行比较。
对1206名排卵周期正常且寻求不育治疗的女性进行了细胞遗传学检测。每例至少分析15个G显带中期分裂相。如果存在结构异常，则对新采集的血样进行荧光原位杂交（FISH）分析和高分辨显带（HRB），以阐明畸变情况。当怀疑存在嵌合体时，将分析的中期分裂相数量增加至总共115个，并对第二份血样额外分析200个中期分裂相。
0.58%（95%置信区间：0.28 - 1.19）的病例显示存在染色体异常，这与女性新生儿中报告的患病率（0.79%；95%置信区间：0.68 - 0.94）无显著差异。在0.4%的患者（n = 5）中观察到平衡易位，0.08%（n = 1）的患者存在X染色体臂内倒位，0.08%（n = 1）的患者存在性染色体嵌合体。然而，与继发性不育女性相比，原发性不育女性中染色体畸变较少见（0.25%对1.25%，P = 0.04）。
本研究表明，对于排卵正常的不育女性，不能提倡进行常规细胞遗传学分析。尽管如此，继发性不育女性中核型异常的频率相对较高，表明这一亚组患者可能从常规核型分析中获益。
