Goumy Carole, Bonnet-Dupeyron Marie-Noëlle, Cherasse Yoan, Laurichesse Hélène, Jaffray Jean-Yves, Lacroute Gisèle, Geneix Aimé, Lemery Didier, Vago Philippe
Cytogénétique Médicale, Faculté de Médecine/CHU, Clermont-Ferrand, France.
Prenat Diagn. 2004 Apr;24(4):249-56. doi: 10.1002/pd.845.
Early diagnosis of unbalanced chromosomal abnormalities can be crucial in minimizing the trauma caused by an elective abortion. Chorionic villus sampling (CVS) can be performed from 9 weeks of gestation. However, two major problems are encountered in fetal karyotyping using cultured cells from chorionic villi: the relatively slow growth of these cells in culture, which delays the diagnosis, and the occurrence of maternal cell contamination (MCC). With FISH, a result can be obtained within 24 h, and, as no cell culturing is involved, the problem of MCC is minimized.
Thirty-two women undergoing CVS between 9 and 12 weeks of gestation were offered FISH analysis in addition to the standard chromosome analysis.
FISH was informative in all of the cases tested. Eleven aneuploidies were detected in cases of hygroma or abnormal nuchal translucency and two out of four fetuses from parental translocation were unbalanced. The decision to perform early termination of these chromosomally abnormal pregnancies was based on FISH results and ultrasound abnormalities, without waiting for karyotype results.
The present study confirms that the association of FISH and CVS allows a rapid and early prenatal diagnosis, and emphasizes that this association is of great benefit in cases of known parental balanced translocation or when hygroma is detected by ultrasonography.
早期诊断染色体不平衡异常对于将选择性流产所造成的创伤降至最低至关重要。绒毛取样（CVS）可在妊娠9周时进行。然而，使用绒毛膜绒毛培养细胞进行胎儿核型分析时会遇到两个主要问题：这些细胞在培养中生长相对缓慢，这会延迟诊断，以及母体细胞污染（MCC）的发生。使用荧光原位杂交（FISH）技术，可在24小时内获得结果，并且由于不涉及细胞培养，MCC问题可降至最低。
32名在妊娠9至12周接受CVS的妇女除了进行标准染色体分析外，还接受了FISH分析。
FISH在所有检测病例中均提供了有用信息。在有颈部水囊瘤或颈部半透明异常的病例中检测到11例非整倍体，来自父母染色体易位的4例胎儿中有2例染色体不平衡。对于这些染色体异常妊娠进行早期终止妊娠的决定是基于FISH结果和超声异常做出的，无需等待核型结果。
本研究证实FISH与CVS相结合可实现快速早期产前诊断，并强调这种结合在已知父母染色体平衡易位或超声检查发现颈部水囊瘤的情况下具有很大益处。
