Abstract

Objectives

The aim of this study was to determine indications of invasive, genetic results of conventional karyotyping and chromosomal microarray analysis and culture failure rates to discuss possible solution options and guide our clinical choices.

Materials and methods

Fetal samples were analyzed by conventional karyotyping, array comparative genomic hybridization, fluorescence in situ hybridization.

Results

Failure rates of chorionic villus sampling (CVS) and amniocentesis were as follows, respectively: 4.5% and 0.4%. The rates of abnormal genetic results in fetuses with only thickened nuchal translucency and thickened nuchal translucency + USG abnormality were %4.2 and %40, respectively.

Conclusions

Abnormal genetic results showed a significant increase in cases of thickened nuchal translucency accompanied by USG abnormalities. Although culture failure rates in the CVS were higher, none of the cases remained inconclusive. Centers with prenatal invasive genetic diagnosis should offer a wide spectrum of genetic tests by medical genetics specialists.

中文翻译：

---

胎儿遗传诊断的补充方法：二级医疗保健机构临床医生的决策过程和替代选择

摘要

目标

本研究的目的是确定常规核型分析和染色体微阵列分析的侵入性遗传结果的迹象以及培养失败率，以讨论可能的解决方案并指导我们的临床选择。

材料和方法

通过常规核型分析、阵列比较基因组杂交、荧光原位杂交分析胎儿样品。

结果

绒毛膜绒毛取样 (CVS) 和羊膜穿刺术的失败率分别如下：4.5% 和 0.4%。仅颈项透明层增厚和颈项透明层增厚+USG异常的胎儿遗传结果异常率分别为4.2%和40%。

结论

异常的遗传结果显示，伴有 USG 异常的颈项透明层增厚病例显着增加。尽管 CVS 中的培养失败率较高，但没有一个病例仍不确定。产前侵入性基因诊断中心应由医学遗传学专家提供广泛的基因检测。