Krajinović M, Rumenić-Garzicić L, Diklić V, Petković S, Radunović N
Jugosl Ginekol Perinatol. 1986 May-Aug;26(3-4):61-4.
It is for the first time that chorionic villi biopsy was performed for diagnostic purposes; the indication for prenatal testing was haemophilia B-X-linked disease. The chorionic tissue was obtained by transcervical aspiration in the 9th week of gestation under ultrasound guidance. The techniques used for cytogenetic investigation were the Y body technique and direct fetal karyotyping. The presence of Y body was determined by slide examination. The analysis of the fetal karyotype confirmed the diagnosis of a male fetus. As this fetus had a great risk (50%) of being born with haemophilia B, the parents decided to terminate the pregnancy. It was done 9 days following the test. During this period no complications were observed. The chorionic villi biopsy has proved easy, quick, and successful in the diagnosis of X-linked disorders.
首次进行绒毛取样以用于诊断目的；产前检测的指征是X连锁乙型血友病。在超声引导下于妊娠第9周经宫颈吸取绒毛组织。用于细胞遗传学研究的技术是Y小体技术和直接胎儿核型分析。通过玻片检查确定Y小体的存在。胎儿核型分析证实为男性胎儿。由于该胎儿患乙型血友病的风险很大（50%），父母决定终止妊娠。检测后9天进行了终止妊娠。在此期间未观察到并发症。绒毛取样已被证明在诊断X连锁疾病方面简便、快捷且成功。
