Prenatal Diagnosis Center, Peking University People's Hospital, Beijing 100044, China.
Chin Med J (Engl). 2010 Feb 20;123(4):423-30.
Prenatal diagnoses are extremely advantageous for pregnant women with high-risk indicators and can help prevent the birth of malformed infants. However, no large-scale statistical study analyzing the correlation between fetal chromosome disorders and abnormal indicators during pregnancy has been done in China. The objectives of this study were to diagnose and analyze fetal chromosome abnormalities, determine the feasibility of the various prenatal test methods and establish diagnostic guidelines for the early, middle, and late trimesters.
From January 2004 to May 2009, 2782 pregnant women at high-risk underwent prenatal diagnoses. Categorized data expressed as either actual counts or percentages were analyzed by the chi-square or Fisher's exact test. Chorionic villus sampling was performed in the early-trimester (10 - 12 weeks of gestation), amniocentesis in mid-trimester (16 - 28 weeks of gestation), and umbilical cord blood collection in mid- or late-trimester (16 - 37 weeks of gestation). In 51 cases either autopsy samples from intrauterine fetal deaths or placental tissues from aborted fetuses were tested.
Chromosomal abnormalities were observed in 3.99% (111/2782) of the samples. Overall, the success rate of cytogenetic analysis for high-risk pregnancy groups was 98.17% (2731/2782). It was significantly less successful when used to analyze data from the chorionic villus sampling compared with that from amniocentesis and umbilical cord blood (P = 0.000). Abnormal chromosome carriers had the highest percentage of abnormal chromosomes (67.86%) when compared with chromosomal abnormalities in patients with ultra-sonographic "soft markers" (11.81%), advanced maternal age (4.51%) and those who had positive serum screening results (P = 0.000).
Invasive prenatal diagnostic techniques are feasible tools for confirming fetal chromosomal abnormalities. Abnormal chromosomes detected in one of the parents carrying abnormal chromosome, ultrasound soft markers, advanced maternal age or positive serum screening results were associated with a higher frequency of fetal genetic diseases.
产前诊断对于高危孕妇极为有利，可以帮助预防畸形儿的出生。然而，中国尚未开展大规模的统计学研究，以分析胎儿染色体异常与妊娠期间异常指标之间的相关性。本研究旨在诊断和分析胎儿染色体异常，确定各种产前检测方法的可行性，并为早、中、晚期妊娠建立诊断指南。
2004 年 1 月至 2009 年 5 月，对 2782 例高危孕妇进行了产前诊断。通过卡方检验或 Fisher 确切概率法对分类数据进行分析，以实际计数或百分比表示。早孕期（妊娠 10-12 周）行绒毛膜活检，中孕期（妊娠 16-28 周）行羊膜腔穿刺，中孕期或晚孕期（妊娠 16-37 周）行脐带血采集。51 例宫内死胎或流产胎儿尸检样本或胎盘组织进行了检测。
2782 例样本中发现染色体异常 3.99%（111/2782）。总体而言，高危妊娠组细胞遗传学分析成功率为 98.17%（2731/2782）。与羊膜腔穿刺术相比，绒毛活检术的成功率显著降低（P=0.000）。与超声“软标记物”异常（11.81%）、高龄产妇（4.51%）和血清筛查阳性者（P=0.000）相比，染色体异常携带者的异常染色体比例最高（67.86%）。
侵袭性产前诊断技术是确认胎儿染色体异常的可行方法。父母一方携带异常染色体、超声软标记物、高龄产妇或血清筛查阳性者，胎儿遗传疾病的发生率较高。
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