CAJ | 학술논문

目的：了解孕中期羊水染色体异常核型的分布特点，探讨分子技术应用于临床产前诊断时可能的漏诊风险。方法对浙江省产前诊断中心2001至2010年羊水染色体核型结果按21三体高风险、18三体高风险、高龄、不良妊娠史、异常家族史、胎儿超声异常以及其他等7组产前诊断适应证进行染色体异常分布及风险性的回顾性分析，根据当前常用分子技术靶向检测范围对其中的高风险染色体异常分两个组合做进一步分析：21三体、18三体和13三体组合（ T21／18／13组合）、21、18、13、X、Y共5种染色体非整倍体组合（21／18／13／X／Y组合）。结果12841例羊水中染色体异常总检出率为3.60％（462／12841），高、低风险染色体异常的检出率分别为1.67％（215／12841）和1.92％（247／12841）；在不同适应证下，高风险染色体异常检出率不同，“胎儿超声异常”最高，达27.27％（24／88）。 T21／18／13组合占高风险染色体异常的72.56％（156／215）；21／18／13／X／Y组合占高风险染色体异常的94.88％（204／215）。在不同适应证下，高风险染色体异常分布不同，按各适应证确诊的除T21／18／13组合、21／18／13／X／Y组合以外的高风险染色体异常占相应产前诊断人群的比例分别为0.28％（2／719）～12.5％（11／88）和0.06％（4／6915）～1.14％（1／88）。结论染色体异常在不同产前诊断适应证下分布不同；具有不同靶向检测特点的分子技术在应用于不同适应证时可能产生不同的漏诊风险。建议临床根据不同适应证选择适宜技术并告知相应风险。（中华检验医学杂志，2015，38：517-521）
목적：료해잉중기양수염색체이상핵형적분포특점，탐토분자기술응용우림상산전진단시가능적루진풍험。방법대절강성산전진단중심2001지2010년양수염색체핵형결과안21삼체고풍험、18삼체고풍험、고령、불량임신사、이상가족사、태인초성이상이급기타등7조산전진단괄응증진행염색체이상분포급풍험성적회고성분석，근거당전상용분자기술파향검측범위대기중적고풍험염색체이상분량개조합주진일보분석：21삼체、18삼체화13삼체조합（ T21／18／13조합）、21、18、13、X、Y공5충염색체비정배체조합（21／18／13／X／Y조합）。결과12841례양수중염색체이상총검출솔위3.60％（462／12841），고、저풍험염색체이상적검출솔분별위1.67％（215／12841）화1.92％（247／12841）；재불동괄응증하，고풍험염색체이상검출솔불동，“태인초성이상”최고，체27.27％（24／88）。 T21／18／13조합점고풍험염색체이상적72.56％（156／215）；21／18／13／X／Y조합점고풍험염색체이상적94.88％（204／215）。재불동괄응증하，고풍험염색체이상분포불동，안각괄응증학진적제T21／18／13조합、21／18／13／X／Y조합이외적고풍험염색체이상점상응산전진단인군적비례분별위0.28％（2／719）～12.5％（11／88）화0.06％（4／6915）～1.14％（1／88）。결론염색체이상재불동산전진단괄응증하분포불동；구유불동파향검측특점적분자기술재응용우불동괄응증시가능산생불동적루진풍험。건의림상근거불동괄응증선택괄의기술병고지상응풍험。（중화검험의학잡지，2015，38：517-521）
Objective To evaluate the distribution of fetal abnormal chromosome karyotype in mid-pregnancy and analyse the possible misdiagnosis risks of molecular techniques in clinical prenatal diagnosis.Methods Fetal karyotype ( fetal cell collected from amniotic fluid ) in Prenatal Diagnosis Center of Zhejiang Province between 2001 and 2010 were retrospectively analyzed on distribution according to 7 different referral indication:positive screening for trisomy 21, trisomy 18, advanced maternal age , abnormal history of pregnancies , abnormal family history , fetal structural abnormalities and others.The combination of trisomy 21, trisomy 18 and trisomy 13 ( T21/18/13 Group) and the aneuploidies of chromosome 21, 18, 13, X, Y (21/18/13/X/Y Group) were further analyzed based on the current molecular target detection range.Results There were 462 cases out of 12 481 with chromosomal abnormality (3.60%, 462/12 841), with 215 cases of high risk (detection rate 1.67%, 215/12 841) and 247 cases of low risk (detection rate 1.92%, 247/12 841).Under different indications , the detection rate on abnormal chromosome of high risk (high-risk CA) is different,“abnormal fetal ultrasound” is the highest(27.27%,24/88).Among the high-risk CA, T21/18/13 Group accounted for 72.56%(156/215), while the 21/18/13/X/Y Group accounted for 94.88%(204/215).For the 7 regular indications , the high-risk CA distribute different;Except the T21/18/13 Group and 21/18/13/X/Y Group, the rates of other abnormal chromosome karyotype in the high risk CA were 0.28%( 2/719 )-12.5%( 11/88 ) and 0.06%( 4/6 915 )-1.14%( 1/88 ) according to different indication, respectively.Conclusions The distribution of abnormal karyotype were different under different referral indication;the detection power and possible misdiagnosis risks were varied under different indication for each molecular technique.It was suggested that doctors should select suitable molecular technique according to different clinical indications and each molecular method has its own limitations .