Beke Artúr, Papp Csaba, Tóth-Pál Ernõ, Mezei Gábor, Joó József G, Csaba Akos, Papp Zoltán
1st Department of Obstetrics and Gynecology, Semmelweis University Medical School, Budapest, Hungary.
J Reprod Med. 2005 Sep;50(9):675-91.
To evaluate the rate of trisomies and other chromosome abnormalities after positive ultrasound findings in thefirst and second trimester of pregnancy.
The study investigated chromosome abnormalities detected in cases with prior abnormal ultrasoundfindings. During a 10-year period there were 1907 invasive interventions carried out with the purpose of chromosome analysis. The intervention was genetic amniocentesis in 1619 cases and chorionic villus sampling in 288.
Karyotyping revealed 103 cases (5.4%) of chromosome abnormalities. Abnormalities with subcutaneous edema were examined: abnormal karyotype was found in 20% of cases with nonimmune hydrops, 48.1% of cases with cystic hygroma and 53.8% of cases with nonimmune hydrops and cystic hygroma together, 8.3% of cases with nuchal edema in the first trimester and 5.5% in the second trimester. The incidence of chromosome abnormalities in cases of cerebral anomalies was 6.3% of cases with ventricular dilatation, 3.6% of cases with choroid plexus cysts and 15.9% of cases with other cranial anomalies. Regarding abnormalities of the heart, isolated echogenic intracardiac focus and ventricular septal defects were not associated with chromosome abnormality, but, in conjunction with other positive ultrasound findings, the incidence of chromosome abnormalities was 7.9% and 26.7%, respectively. Other anomalies of the heart and large blood vessels showed an abnormal karyotype incidence of 18.2%. In cases of unilateral pyelectasis unassociated with other anomalies, the incidence of chromosome abnormalities was 1%. In cases of bilateral pyelectasis or pyelectasis associated with other anomalies, the incidence was 3%. In terms of anomalies of the abdominal wall and abdomen, the incidence of association with chromosome abnormalities was 9.5% in cases of omphalocele, 11.8% in cases of duodenal atresia and 5.7% in cases of echogenic bowel. In cases of short femur and humerus the rate of abnormal karyotypes was 16%.
Ultrasound plays an important role in prenatal diagnosis. In cases of positive ultrasound findings, karyotyping is reasonable.
评估妊娠早、中期超声检查结果呈阳性后三体及其他染色体异常的发生率。
本研究调查了先前超声检查结果异常的病例中检测到的染色体异常情况。在10年期间，共进行了1907次以染色体分析为目的的侵入性检查。其中1619例采用遗传羊膜腔穿刺术，288例采用绒毛取样术。
核型分析显示103例（5.4%）染色体异常。对伴有皮下水肿的异常情况进行了检查：在非免疫性水肿病例中，20%发现核型异常；在颈部水囊瘤病例中，48.1%发现核型异常；在非免疫性水肿合并颈部水囊瘤病例中，53.8%发现核型异常；在妊娠早期颈部水肿病例中，8.3%发现核型异常，在妊娠中期为5.5%。脑异常病例中染色体异常的发生率为：脑室扩张病例中6.3%，脉络丛囊肿病例中3.6%，其他颅脑异常病例中15.9%。关于心脏异常，孤立性心内强回声灶和室间隔缺损与染色体异常无关，但与其他超声阳性结果同时出现时，染色体异常的发生率分别为7.9%和26.7%。心脏和大血管的其他异常显示核型异常发生率为18.2%。在与其他异常无关的单侧肾盂积水病例中，染色体异常的发生率为1%。在双侧肾盂积水或与其他异常相关的肾盂积水病例中，发生率为3%。就腹壁和腹部异常而言，脐膨出病例中与染色体异常相关的发生率为9.5%，十二指肠闭锁病例中为11.8%，肠管回声增强病例中为5.7%。在股骨和肱骨短小病例中，核型异常率为16%。
超声在产前诊断中起重要作用。超声检查结果呈阳性时，进行核型分析是合理的。
