CAJ | 학술논문

目的探讨妊娠早期超声多指标筛查胎儿染色体异常的临床价值.方法对2008年9月至2010年9月在暨南大学附属第一医院产科就诊的2789例妊娠早期(11～13+6周)单胎初产孕妇超声测量胎儿颈项透明层(nuchal translucency,NT)厚度,记录胎心率(fetal heart rate,FHR)、面部角度(facial angle,FA)、静脉导管(ductus venosus,DV)、三尖瓣反流(tricuspid reverse,TR)、胎儿鼻骨(nasal bone,NB)等超声指标,观察胎儿结构.全部超声指标检查结果输入Astraia风险筛查软件计算染色体异常风险值(＞1/300为高风险截断值),根据知情同意原则对高风险者取绒毛或羊水进行染色体核型产前诊断.所有研究对象随访至分娩后6个月.率的比较用x2检验或Fisher精确概率法.结果 (1) 2789例孕妇筛查出21三体高风险107例,其中96例接受侵入性产前诊断,诊断染色体异常16例,染色体异常发生率为0.6％(16/2789),其中6例21-三体.2789例孕妇中,超声筛查21-三体高风险孕妇4例,最终确诊21-三体6例,假阳性率为3.6％ (101/2783).(2) NT≥2.5 mm者196例,21-三体高风险66例,均经绒毛穿刺诊断,发现染色体异常16例；有创性检查率2.3％(66/2789).(3)≥35岁孕妇占筛查总数的6.7％(186/2789),其中检出21三体高风险32例,占21-三体高风险总数的29.9％ (32/107)；诊断21-三体2例,21-三体检出率为1.1％(2/186)；年龄＜35岁者21-三体检出率为0.2％(4/2597)；年龄≥35岁和年龄＜35岁人群中胎儿21-三体检出率差异无统计学意义(P=0.055).(4)筛查过程诊断胎儿结构异常13例,其中5例染色体核型异常.结论妊娠早期超声多指标筛查将明显提高染色体异常胎儿检出率并降低假阳性和假阴性率,大大降低有创性检查率.尤其对高龄孕妇的染色体异常风险评估更有明显的指导意义.妊娠早期超声筛查不仅可以有效检出核型异常,同时可以诊断严重的胎儿结构异常.
목적 탐토임신조기초성다지표사사태인염색체이상적림상개치.방법 대2008년9월지2010년9월재기남대학부속제일의원산과취진적2789례임신조기(11～13+6주)단태초산잉부초성측량태인경항투명층(nuchal translucency,NT)후도,기록태심솔(fetal heart rate,FHR)、면부각도(facial angle,FA)、정맥도관(ductus venosus,DV)、삼첨판반류(tricuspid reverse,TR)、태인비골(nasal bone,NB)등초성지표,관찰태인결구.전부초성지표검사결과수입Astraia풍험사사연건계산염색체이상풍험치(＞1/300위고풍험절단치),근거지정동의원칙대고풍험자취융모혹양수진행염색체핵형산전진단.소유연구대상수방지분면후6개월.솔적비교용x2검험혹Fisher정학개솔법.결과 (1) 2789례잉부사사출21삼체고풍험107례,기중96례접수침입성산전진단,진단염색체이상16례,염색체이상발생솔위0.6％(16/2789),기중6례21-삼체.2789례잉부중,초성사사21-삼체고풍험잉부4례,최종학진21-삼체6례,가양성솔위3.6％ (101/2783).(2) NT≥2.5 mm자196례,21-삼체고풍험66례,균경융모천자진단,발현염색체이상16례；유창성검사솔2.3％(66/2789).(3)≥35세잉부점사사총수적6.7％(186/2789),기중검출21삼체고풍험32례,점21-삼체고풍험총수적29.9％ (32/107)；진단21-삼체2례,21-삼체검출솔위1.1％(2/186)；년령＜35세자21-삼체검출솔위0.2％(4/2597)；년령≥35세화년령＜35세인군중태인21-삼체검출솔차이무통계학의의(P=0.055).(4)사사과정진단태인결구이상13례,기중5례염색체핵형이상.결론 임신조기초성다지표사사장명현제고염색체이상태인검출솔병강저가양성화가음성솔,대대강저유창성검사솔.우기대고령잉부적염색체이상풍험평고경유명현적지도의의.임신조기초성사사불부가이유효검출핵형이상,동시가이진단엄중적태인결구이상.
Objective To investigate the clinical values of multiple ultrasound soft markers in screening for fetal chromosomal abnormality during first-trimester.Methods Two thousand seven hundred and eighty-nine nulliparas in Department of Obstetrics,the First Affiliated Hospital of Jinan University during early pregnancy (11-13+6 gestational weeks) were selected for this study.Fetalnuchal translucency (NT),facial angle (FA),ductus venosus (DV),fetal heart rate (FHR),tricuspid reverse (TR),nasal bone (NB) and fetal structures were scanned and measured.Risk calculation software (Astraia) was used to calculate the chromosomal abnormal risk (cut-off line:＞1/300) based on ultrasound records.The chorionic villi or amniotic fluid of high risk patients was collected with informed consent for karyotype analysis (prenatal diagnosis).All patients were followed up until six months after delivery.Chi-square test or Fisher exact test was used to compare the difference.Results One hundred and seven cases were high-risk of trisomy 21 among which 96 cases accepted invasive prenatal diagnosis.Sixteen chromosomal anomaly and six trisomy 21 cases were diagnosed out the 96 fetuses.Among 2789 cases,four were high-risk of trisomy 21 according to ultrasound screening.Six cases were diagnosed as trisomy 21.The false positive rate of ultrasound screening was 3.6％(101/2783).There were 196 cases whose NT ≥2.5 mm,in which 66 cases were high risk of chromosomal abnormality,and 16 fetal chromosomal abnormalities were diagnosed after chorionic villus sampling.The invasive procedure rate was 2.3％ (66/2789).Totally,186 pregnant women were older than 35 years,among which 32 cases were high risk.There was no significantly difference on the of rate fetal chromosomal abnormality between the groups of age≥ 35 pregnant women and the general population (P=0.055).But 29.9％ (32/107) high risk cases were detected in the group of age≥35.Five of thirteen fetal malformations cases were associated with abnormal karyotype.Conclusions Multiple ultrasound soft markers screening during early pregnancy could increase the diagnosis rate of chromosomal abnormality and decrease the false positive rate,false negative rate and invasive procedure rate.Early ultrasound screening might be effective in not only identifying chromosomal abnormality,but also diagnosing severe structure deformity of fetus.