超声软指标咨询

超声软指标的遗传咨询（SoftMarkers：SoWhat?）广州市妇婴医院产前诊断中心心室内强光点（Echogenicintracardiacfocus，EICF)心室内强光点（Echogenicintracardiacfocus，EICF)左心室：88%右心室：7%左右心室：7%发生率：0.5%to12%（亚洲人比西方人常见）其它：与先心无关心室内强光点（Echogenicintracardiacfocus，EICF)与染色体异常的关联（AssociationWithFetalAneuploidy）在高危人群：LR2.8在低危人群：LRs0-1.8平均：LR2.0右心室、双心室或多个要较单个左心室危险度高心室内强光点（Echogenicintracardiacfocus，EICF)遗传咨询（Recommendation）孤立的EICF，若染色体风险1/600，无需进一步处理孤立的EICF，若染色体风险1/600，考虑羊穿右心室、双心室或多个EICF，考虑羊穿肠回声增强（Echogenicbowel)肠回声增强（Echogenicbowel)发生率：0.6%-2.4%Grade1:比骨质回声弱Grade2:与骨质回声相当Grade3:比骨质回声更强肠回声增强（Echogenicbowel)与染色体异常的关联（AssociationWithFetalAneuploidy）LR：6(CI2.7–6.8)肠回声增强（Echogenicbowel)与非染色体异常的关联（AssociationWithNonchromosomalAbnormalities）cysticfibrosiscongenitalinfectionintra-amnioticbleedingcongenitalmalformationsofthebowel肠回声增强（Echogenicbowel)遗传咨询（Recommendations）Grade1无需进一步处理Grade2and3与染色体和非染色体异常有关联肠回声增强（Echogenicbowel)遗传咨询（Recommendations）出现Grade2，3：超声检查胎儿其它结构性异常和其它软指标超声检查胎儿腹部寻找肠梗阻或穿孔迹象超声检查观察胎盘遗传咨询实验室检查（核型分析、母亲感染检查）颈部皮肤增厚（Thickenednuchalfold)颈部皮肤增厚（Thickenednuchalfold)16-18周：＞＝5mm18-24周：＞＝6mm颈部皮肤增厚（Thickenednuchalfold)与染色体异常的关联（AssociationWithFetalAneuploidy）LR：17(CI8–35)颈部皮肤增厚（Thickenednuchalfold)与非染色体异常的关联（AssociationWithNonchromosomalAbnormalities）Noonansyndrome,multiplepterygiumsyndromeskeletaldysplasias.congenitalcardiacdefects颈部皮肤增厚（Thickenednuchalfold)遗传咨询（Recommendations）羊水穿刺先心或其它异常轻度脑室增宽（Mildventriculomegaly,MVM)轻度脑室增宽（Mildventriculomegaly,MVM)＞＝10mmand=15mm发生率：0.15%轻度脑室增宽（Mildventriculomegaly,MVM)与染色体异常的关联（AssociationWithFetalAneuploidy）LR：9轻度脑室增宽（Mildventriculomegaly,MVM)与非染色体异常的关联（AssociationWithNonchromosomalAbnormalities）出现神经系统症状机会：10%to36%轻度脑室增宽（Mildventriculomegaly,MVM)遗传咨询（Recommendations）羊水穿刺先天性感染检查新生儿随访脉络膜囊肿（Choroidplexuscysts，CPCs)脉络膜囊肿（Choroidplexuscysts，CPCs)发生率：1%18三体：50%作为18三体的唯一超声发现：10%脉络膜囊肿（Choroidplexuscysts，CPCs)与染色体异常的关联（AssociationWithFetalAneuploidy）LR7(95%CI4–12)forTri18LR1.9(95%CI0.7–4.4)forTri21脉络膜囊肿（Choroidplexuscysts，CPCs)遗传咨询（Recommendations）孤立的CPC，若母亲35岁或筛查低风险，无需进一步处理孤立的CPC，若母亲≥35岁或筛查高风险，考虑羊水穿刺；合并其它软指标，考虑羊水穿刺CPC数量、位置、大小不影响风险后颅窝积液（Enlargedcisternamagna)后颅窝积液（Enlargedcisternamagna)程度：≧10mm后颅窝积液（Enlargedcisternamagna)与核型异常的关系（AssociationWithFetalAneuploidy）孤立存在时，与一般人群无差异后颅窝积液（Enlargedcisternamagna)与非染色体异常的关系（AssociationWithNonchromosomalAbnormalities）可见于下列一些结构异常（arachnoidcyst,DandyWalkermalformation）或综合征（oro-facial–digitalsyndrome,Meckel-Grubersyndrome,DiGeorgesyndrome）后颅窝积液（Enlargedcisternamagna)遗传咨询（Recommendations）孤立存在时，不是羊水穿刺指征；合并其它异常，考虑羊穿股骨短（shortfemurlength）股骨短（shortfemurlength）程度Belowthe2.5thpercentileforgestationalageLessthan0.9ofthatpredictedbythemeasuredbiparietaldiameter.股骨短（shortfemurlength）与核型异常的关系（AssociationWithFetalAneuploidy）LR2.7(95%CI2.1–6.0).股骨短（shortfemurlength）与非染色体异常的关系（AssociationWithNonchromosomalAbnormalities）SkeletaldysplasiasFetalgrowthrestriction股骨短（shortfemurlength）遗传咨询（Recommendations）发现股骨短，应测量其它长骨；结合其它指标判断是否产前诊断监测胎儿生长SandalGapToesSandalGapToes见于45%唐氏新生儿也见于正常儿的母趾外展SandalGapToes与核型异常的关系（AssociationWithFetalAneuploidy）在产前与染色体的风险关系无结论SandalGapToes遗传咨询（Recommendations）单独出现时，不作为羊水穿刺指征结合其它风险因素考虑是否穿刺HypoplasticPhalanx5thDigitHypoplasticPhalanx5thDigit见于60%唐氏新生儿在产前，见于3.4%的正常儿，见于18.8%的唐氏儿HypoplasticPhalanx5thDigit与核型异常的关系（AssociationWithFetalAneuploidy）LR：5.6(95%CI2.5–11.9)HypoplasticPhalanx5thDigit遗传咨询（Recommendations）建议羊水穿刺结论Thickenednuchalfold（颈皮增厚）maybeuseful(PosLR17)butsensitivityistoolow(0.4)foruseasascreeningtoolNootherisolatedmarkerhassuchahighLR(Smith-Bindmanetal2001JAMA;285:1044-55)结论孤立的软指标每诊断1例患儿丢失的胎儿数(lowriskpopulation)每诊断1例患儿丢失的胎儿数(highriskpopulation)颈皮增厚0.60.2脉络膜囊肿4.31.8股骨短1.20.5肠回声增强1.00.4心内强光点2.00.8肾盂扩张2.61.1(Smith-Bindmanetal.Second-TrimesterUltrasoundtoDetectFetusesWithDownSyndrome2001JAMA;285:1044-55)结论单独利用这样指标作为筛查的依据，其结果是流产的胎儿比诊断的胎儿还多，而且真正能诊断的患胎很少。（UsingthesemarkersasabasisfordecidingtoofferamniocentesiswillresultinmorefetallossesthancasesofDown’ssyndromedetected,andwillleadtoadecreaseintheprenataldetectionoffetuseswithDown’ssyndrome.）Shouldwecontinuetolookforsoftmarkers?Yes–becauseMorethanoneisrelevantInthepresenceofastructuralabnormality,riskofaneuploidyisincreasedEchogenicbowelisstillofclinicalsignificance