中华医学超声杂志（电子版）
中華醫學超聲雜誌（電子版）
중화의학초성잡지（전자판）
CHINESE JOURNAL OF MEDICAL ULTRASOUND(ELECTRONICAL VISION)
2014年
10期
828-831
,共4页
吴桂花%蔡海云%刘亚军%樊杰%吴为元%姜纬%殷林亮
吳桂花%蔡海雲%劉亞軍%樊傑%吳為元%薑緯%慇林亮
오계화%채해운%류아군%번걸%오위원%강위%은림량
超声检查,产前%血清%染色体畸变
超聲檢查,產前%血清%染色體畸變
초성검사,산전%혈청%염색체기변
Ultrasonography,prenatal%Serology screening%Chromosomal abnormality
目的：评价产前超声筛查联合孕妇血清学筛查对提高胎儿染色体异常检出率的临床价值。方法选择于孕15~20+6周已行孕妇血清学筛查且结果提示有21-三体和（或）18-三体临界风险的628例胎儿行超声筛查，采用经腹部超声对胎儿鼻骨（NB）和颈部皮肤皱褶（NF，中孕期超声软指标）进行检测，观察有无鼻骨发育不良、有无颈部皮肤皱褶增厚（＞6 mm为增厚）及有无其他超声软指标异常，对鼻骨发育不良及颈部皱褶增厚者进行羊水穿刺染色体核型分析。结果产前超声筛查的628例胎儿中发现鼻骨皱发育不良6例（0.96%，6/628），其中1例合并颈部皮肤皱褶增厚，2例合并肠道回声增强，1例合并脉络膜囊肿，1例合并左心室内高回声；6例胎儿均行羊水穿刺染色体核型分析，2例为21-三体（33.3%，2/6），余4例染色体未见明显异常。结论产前超声筛查联合孕妇血清学筛查可提高染色体临界风险胎儿染色体异常的检出率。
目的：評價產前超聲篩查聯閤孕婦血清學篩查對提高胎兒染色體異常檢齣率的臨床價值。方法選擇于孕15~20+6週已行孕婦血清學篩查且結果提示有21-三體和（或）18-三體臨界風險的628例胎兒行超聲篩查，採用經腹部超聲對胎兒鼻骨（NB）和頸部皮膚皺褶（NF，中孕期超聲軟指標）進行檢測，觀察有無鼻骨髮育不良、有無頸部皮膚皺褶增厚（＞6 mm為增厚）及有無其他超聲軟指標異常，對鼻骨髮育不良及頸部皺褶增厚者進行羊水穿刺染色體覈型分析。結果產前超聲篩查的628例胎兒中髮現鼻骨皺髮育不良6例（0.96%，6/628），其中1例閤併頸部皮膚皺褶增厚，2例閤併腸道迴聲增彊，1例閤併脈絡膜囊腫，1例閤併左心室內高迴聲；6例胎兒均行羊水穿刺染色體覈型分析，2例為21-三體（33.3%，2/6），餘4例染色體未見明顯異常。結論產前超聲篩查聯閤孕婦血清學篩查可提高染色體臨界風險胎兒染色體異常的檢齣率。
목적：평개산전초성사사연합잉부혈청학사사대제고태인염색체이상검출솔적림상개치。방법선택우잉15~20+6주이행잉부혈청학사사차결과제시유21-삼체화（혹）18-삼체림계풍험적628례태인행초성사사，채용경복부초성대태인비골（NB）화경부피부추습（NF，중잉기초성연지표）진행검측，관찰유무비골발육불량、유무경부피부추습증후（＞6 mm위증후）급유무기타초성연지표이상，대비골발육불량급경부추습증후자진행양수천자염색체핵형분석。결과산전초성사사적628례태인중발현비골추발육불량6례（0.96%，6/628），기중1례합병경부피부추습증후，2례합병장도회성증강，1례합병맥락막낭종，1례합병좌심실내고회성；6례태인균행양수천자염색체핵형분석，2례위21-삼체（33.3%，2/6），여4례염색체미견명현이상。결론산전초성사사연합잉부혈청학사사가제고염색체림계풍험태인염색체이상적검출솔。
ObjectiveTo evaluate the clinical value of prenatal ultrasonography combined with maternal serology screening for chromosomal abnormality in 15 to 20+6 gestational weeks.MethodsSix hundred and twenty-eight pregnant women (628 fetuses) in 15 to 20+6 gestational weeks were selected to undergo prenatal ultrasonography, who were in critical risk of trisomy 21 or trisomy 18 by maternal serology screening. Transabdominal ultrasonography were performed and fetal nasal bone and nuchal fold were detected. Those who had nasal bone hypoplasia, thickened nuchal fold (NF>6 mm) and other abnormal fetal soft markers underwent amniocentesis for karyotyping analysis. ResultsThere were 6 cases of nasal bone hypoplasia (0.96%, 6/628), including one case of thickened nuchal fold, two cases of echogenic bowel, two cases of choroid plexus cysts and 1 case of echogenic cardiac focus. All these 6 cases underwent amniocentesis and 2 were trisomy 21 (33.3%, 2/6). The other 4 cases had no significant chromosomal abnormality.ConclusionsPrenatal ultrasonography may improve the detection rate of chromosomal abnormality for those pregnant women who are in critical risk of chromosomal abnormality prompted by serology screening. But invasive procedures are still needed to verify the chromosomal abnormality.
