Benn P A, Hsu L Y, Carlson A, Tannenbaum H L
Am J Med Genet. 1985 Feb;20(2):369-84. doi: 10.1002/ajmg.1320200221.
The Prenatal Diagnosis Laboratory of New York City (PDL) is a regional program for the prevention of genetic diseases. The administrative aspects of the establishment of the laboratory were described in papers I [Hsu, 1981] and II [Hsu and Benn, 1981] in this series. We now report our experience of the first 7,000 referrals to the laboratory. The laboratory achieved a success rate of 99.5% in obtaining a diagnosis. The frequency with which a repeat amniocentesis was required was 1.9%, usually attributable to inadequate initial amniotic fluid volume or condition. Cases were completed in an average time of 20.82 days. A total of 149 (2.13%) cytogenetic abnormalities were detected. There were 59 nonmosaic autosomal trisomies and 29 sex chromosome abnormalities. The incidence of unbalanced structural abnormalities (0.186%) was much higher than that reported in surveys of newborn infants largely because of the prenatal detection of cases with supernumerary chromosomes. The incidence of balanced structural abnormalities was also considerably higher than that found in surveys of the newborn population, in part because of the detection of subtle familial pericentric inversions of common chromosome regions (inv(Y)(p11q11), inv(2) (p11q13), and inv(1)(p11q13)). The incidence of cases with multiple independent chromosome abnormalities was no higher than expected by chance. A high incidence of mosaicism, pseudomosaicism, and maternal cell contamination was found. Screening for neural tube defects accounted for the detection of a further 16 abnormalities. Nearly all women with severely abnormal fetuses (trisomy 13, 18, 21) elected to terminate their pregnancy whereas only 62% of patients with a prenatally diagnosed sex chromosome abnormality elected to terminate their pregnancies. Full details of follow-up and confirmatory studies for unusual diagnoses are reported. Utilization of prenatal diagnosis in the New York City area has increased sharply since PDL became operational. The laboratory's success illustrates the role of a prenatal diagnosis laboratory that provides a service independent of the patient's financial status. The experience further shows the high degree of acceptance of prenatal diagnosis by individuals at high risk for a child with a genetic disorder.
纽约市产前诊断实验室（PDL）是一个预防遗传疾病的区域性项目。本系列论文的第一篇[许，1981]和第二篇[许和本，1981]描述了该实验室建立的行政方面情况。我们现在报告该实验室接收的前7000例转诊病例的经验。该实验室在做出诊断方面的成功率为99.5%。需要重复羊膜穿刺术的频率为1.9%，通常是由于初始羊水体积不足或状况不佳。病例完成的平均时间为20.82天。共检测到149例（2.13%）细胞遗传学异常。有59例非嵌合型常染色体三体和29例性染色体异常。不平衡结构异常的发生率（0.186%）远高于新生儿调查中报告的发生率，这主要是因为产前检测到了额外染色体的病例。平衡结构异常的发生率也明显高于新生儿人群调查中的发生率，部分原因是检测到了常见染色体区域（inv(Y)(p11q11)、inv(2)(p11q13)和inv(1)(p11q13)）的细微家族性臂间倒位。多个独立染色体异常病例的发生率并不高于偶然预期。发现了高嵌合率、假嵌合率和母体细胞污染率。神经管缺陷筛查又检测到16例异常。几乎所有胎儿严重异常（13、18、21三体）的女性都选择终止妊娠，而产前诊断为性染色体异常的患者中只有62%选择终止妊娠。报告了对异常诊断进行随访和确证研究的全部详细情况。自PDL开始运作以来，纽约市地区产前诊断的利用率急剧上升。该实验室的成功说明了一个独立于患者经济状况提供服务的产前诊断实验室的作用。该经验进一步表明，患有遗传疾病儿童的高危个体对产前诊断的接受程度很高。
