中华妇产科杂志
中華婦產科雜誌
중화부산과잡지
CHINESE JOUNAL OF OBSTETRICS AND GYNECOLOGY
2013年
11期
815-818
,共4页
陈叙%常颖%崔洪艳%任晨春%于炳颖
陳敘%常穎%崔洪豔%任晨春%于炳穎
진서%상영%최홍염%임신춘%우병영
染色体畸变%三尖瓣闭锁不全%鼻骨%先天畸形%颈部透明带检查
染色體畸變%三尖瓣閉鎖不全%鼻骨%先天畸形%頸部透明帶檢查
염색체기변%삼첨판폐쇄불전%비골%선천기형%경부투명대검사
Chromosome aberrations%Tricuspid valve insufficiency%Nasal bone%Congenital abnormalities%Nuchal translucency measurement
目的 探讨孕11 ～13周+6胎儿多个超声指标联合母血清学指标在筛查染色体异常胎儿中的临床效果.方法 选择2010年1月1日至2011年12月31日天津市中心妇产科医院进行联合筛查的单胎孕妇5000例(筛查孕周为11 ～13周+6).采用超声仪对胎儿颈项透明层(NT)厚度,鼻骨缺失与否,静脉导管a波血流反向及三尖瓣反流情况进行检测;同时检测孕妇血清妊娠相关蛋白A(PAPP-A)和游离β绒毛膜促性腺激素(β-hCG)水平.将NT值和β-hCG及PAPP-A水平输入计算机,计算风险值(≥1∶270).联合筛查的5000例孕妇中筛查出高风险204例,对这204例孕妇进行绒毛组织活检,检测胎儿染色体核型,对染色体异常胎儿的超声特征进行分析.结果 (1) 5000例单胎孕妇中,正常染色体核型胎儿4983例,活产儿4938例,62例胎儿因各种原因于孕中期引产,其中40例染色体核型正常但伴先天性心脏病,17例为染色体异常(其中21三体9例、18三体2例、13 三体1例、45X 4例),2例脊柱裂,2例消化道梗阻,1例巨膀胱.染色体核型异常胎儿中有1例联合筛查为低风险,年龄高风险(孕妇年龄均≥40岁),后经产前诊断证实胎儿为21三体综合征.(2)9例21 三体胎儿中有5例为鼻骨缺失(5/9)、5例有三尖瓣反流(5/9)、4例为静脉导管a波反向(4/9)、3例胎儿鼻骨缺失伴有三尖瓣反流及静脉导管a波血流反向(3/9).2例18 三体胎儿中有l例鼻骨缺失、2例均为三尖瓣反流及静脉导管a波血流反向.4例45X胎儿中有2例为静脉导管a波血流反向.4983例正常核型胎儿中有8例鼻骨缺失(0.16％)、48例三尖瓣反流(0.96％)以及44例静脉导管a波血流反向(0.88％).40例先天性心脏病胎儿中有32例为三尖瓣反流(80％),30例静脉导管a波血流反向(75％).8例孕早期发现的鼻骨缺失的正常核型胎儿,于孕20周时超声检测均发现鼻骨.结论 孕11 ～13周+6胎儿联合筛查检出率高,假阳性率低;异常核型胎儿往往伴有三尖瓣反流、静脉导管的a波反向及鼻骨缺失,增加超声标记有提高异常胎儿检出率的作用;孕11 ～13周+6超声标记物异常可能与胎儿先天性心脏病有关.
目的 探討孕11 ～13週+6胎兒多箇超聲指標聯閤母血清學指標在篩查染色體異常胎兒中的臨床效果.方法 選擇2010年1月1日至2011年12月31日天津市中心婦產科醫院進行聯閤篩查的單胎孕婦5000例(篩查孕週為11 ～13週+6).採用超聲儀對胎兒頸項透明層(NT)厚度,鼻骨缺失與否,靜脈導管a波血流反嚮及三尖瓣反流情況進行檢測;同時檢測孕婦血清妊娠相關蛋白A(PAPP-A)和遊離β絨毛膜促性腺激素(β-hCG)水平.將NT值和β-hCG及PAPP-A水平輸入計算機,計算風險值(≥1∶270).聯閤篩查的5000例孕婦中篩查齣高風險204例,對這204例孕婦進行絨毛組織活檢,檢測胎兒染色體覈型,對染色體異常胎兒的超聲特徵進行分析.結果 (1) 5000例單胎孕婦中,正常染色體覈型胎兒4983例,活產兒4938例,62例胎兒因各種原因于孕中期引產,其中40例染色體覈型正常但伴先天性心髒病,17例為染色體異常(其中21三體9例、18三體2例、13 三體1例、45X 4例),2例脊柱裂,2例消化道梗阻,1例巨膀胱.染色體覈型異常胎兒中有1例聯閤篩查為低風險,年齡高風險(孕婦年齡均≥40歲),後經產前診斷證實胎兒為21三體綜閤徵.(2)9例21 三體胎兒中有5例為鼻骨缺失(5/9)、5例有三尖瓣反流(5/9)、4例為靜脈導管a波反嚮(4/9)、3例胎兒鼻骨缺失伴有三尖瓣反流及靜脈導管a波血流反嚮(3/9).2例18 三體胎兒中有l例鼻骨缺失、2例均為三尖瓣反流及靜脈導管a波血流反嚮.4例45X胎兒中有2例為靜脈導管a波血流反嚮.4983例正常覈型胎兒中有8例鼻骨缺失(0.16％)、48例三尖瓣反流(0.96％)以及44例靜脈導管a波血流反嚮(0.88％).40例先天性心髒病胎兒中有32例為三尖瓣反流(80％),30例靜脈導管a波血流反嚮(75％).8例孕早期髮現的鼻骨缺失的正常覈型胎兒,于孕20週時超聲檢測均髮現鼻骨.結論 孕11 ～13週+6胎兒聯閤篩查檢齣率高,假暘性率低;異常覈型胎兒往往伴有三尖瓣反流、靜脈導管的a波反嚮及鼻骨缺失,增加超聲標記有提高異常胎兒檢齣率的作用;孕11 ～13週+6超聲標記物異常可能與胎兒先天性心髒病有關.
목적 탐토잉11 ～13주+6태인다개초성지표연합모혈청학지표재사사염색체이상태인중적림상효과.방법 선택2010년1월1일지2011년12월31일천진시중심부산과의원진행연합사사적단태잉부5000례(사사잉주위11 ～13주+6).채용초성의대태인경항투명층(NT)후도,비골결실여부,정맥도관a파혈류반향급삼첨판반류정황진행검측;동시검측잉부혈청임신상관단백A(PAPP-A)화유리β융모막촉성선격소(β-hCG)수평.장NT치화β-hCG급PAPP-A수평수입계산궤,계산풍험치(≥1∶270).연합사사적5000례잉부중사사출고풍험204례,대저204례잉부진행융모조직활검,검측태인염색체핵형,대염색체이상태인적초성특정진행분석.결과 (1) 5000례단태잉부중,정상염색체핵형태인4983례,활산인4938례,62례태인인각충원인우잉중기인산,기중40례염색체핵형정상단반선천성심장병,17례위염색체이상(기중21삼체9례、18삼체2례、13 삼체1례、45X 4례),2례척주렬,2례소화도경조,1례거방광.염색체핵형이상태인중유1례연합사사위저풍험,년령고풍험(잉부년령균≥40세),후경산전진단증실태인위21삼체종합정.(2)9례21 삼체태인중유5례위비골결실(5/9)、5례유삼첨판반류(5/9)、4례위정맥도관a파반향(4/9)、3례태인비골결실반유삼첨판반류급정맥도관a파혈류반향(3/9).2례18 삼체태인중유l례비골결실、2례균위삼첨판반류급정맥도관a파혈류반향.4례45X태인중유2례위정맥도관a파혈류반향.4983례정상핵형태인중유8례비골결실(0.16％)、48례삼첨판반류(0.96％)이급44례정맥도관a파혈류반향(0.88％).40례선천성심장병태인중유32례위삼첨판반류(80％),30례정맥도관a파혈류반향(75％).8례잉조기발현적비골결실적정상핵형태인,우잉20주시초성검측균발현비골.결론 잉11 ～13주+6태인연합사사검출솔고,가양성솔저;이상핵형태인왕왕반유삼첨판반류、정맥도관적a파반향급비골결실,증가초성표기유제고이상태인검출솔적작용;잉11 ～13주+6초성표기물이상가능여태인선천성심장병유관.
Objective To evaluate the efficiency of combined screening for chromosomal abnormalities in the first trimester and the ultrasound characteristics of these fetuses.Methods Retrospective study for 5000 singleton pregnancies by combined screening of trisomies 21,18,13 and Turner syndrome.Risk algorithms were developed for calculation of patient-specific risks for each of the three trisomies based on maternal age,fetal nuchal translucency,free β human chorionic gonadotropin and serum pregnancy associated plasma protein A at 11 to 13 +6 weeks of pregnant.The value of nuchal translucency (NT) and β-hCG and pregnancy-associated plasma protein A (PAPP-A) level were inputted computer,and calculate the risk value (≥ 1 ∶ 270) by automatic analysis software.Two hundred and four cases with high risk were performed transabdominal chorionic villus biopsy to detect the fetal chromosomal karyotypes.Meanwhile,other ultrasonic characteristics of fetal were elevated.Results (1) Five thousand cases of pregnant women were detected,including 4983 normal cases,62 cases were induced labor for a variety of reasons in the second trimester,including 40 cases with normal karyotype but with congenital heart disease,17 cases of chromosome abnormalities (9 cases trisomy 21,2 cases trisomy 18,1 cases trisomy 13,4 cases 45X),2 cases spina bifida,2 cases digestive tract obstruction,1 cases giant bladder.One case with low risk of fetal chromosomal abnormalities in combined screening,but high risk of age (maternal age were over 40 years old),it was 21 trisomy syndrome after the prenatal diagnosis.(2) Five cases of nasal bone loss in 9 cases of trisomy 21 (5/9),5 cases with three tricuspid regurgitation (5/9),4 cases of venous ductus a wave flow reverse (4/9),3 cases of fetal nasal bone loss accompanied by tricuspid regurgitation and venous ductus a wave flow reverse (3/9).One case of nasal bone loss in 2 cases of trisomy 18,2 cases were tricuspid regurgitation and venous ductus a wave flow reverse.Two cases in 4 cases of 45X had venous ductus a wave flow reverse.There were 8 cases (0.16％) nasal bone absence in 4983 cases of normal karyotype fetus,48 cases (0.96％) of tricuspid regurgitation and 44 cases (0.88％) of venous ductus a wave flow reverse.Thirty-two cases in 40 cases (80％) of fetal congenital heart disease were tricuspid regurgitation,30 cases of venous ductus a wave flow reverse (75％).Eight cases of nasal bone absence normal karyotype fetus were found the nasal bone at 20 weeks gestation.Conclusion Combination screening of nuchal translucency with serum markers in the first trimester were high detection rate and low false positive rate; a wave reversion and fetal nasal bone absence accompanied by tricuspid regurgitation can improve the detection rate of abnormal karyotype; abnormalities ultrasound marker may be associated with fetal congenital heart disease at 11-13 +6 weeks of pregnancy.
