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孕期做哪些檢查，可以判斷胎兒是否畸形？

出處：網(wǎng)絡(luò)收集 日期：2024-08-28 03:44:04 編輯：胖虎愛撩妹
孕媽媽們都有一個(gè)共同的心愿，就是希望肚子里小寶寶能夠健康長(zhǎng)大。懷孕早中期的時(shí)候，不少孕媽都十分擔(dān)心胎寶寶是否會(huì)發(fā)育異?；蛘咛夯巍榇宋覀兊膰?guó)家醫(yī)療為孕媽媽建立了一套產(chǎn)前診斷體系。
 
遺憾的是，不是所有的畸形都能通過現(xiàn)有的產(chǎn)前檢查手段篩查出來，比如視力、聽力問題、胃腸道阻塞、代謝異常、部分先天性心臟病等疾病，在寶寶出生前是沒辦法診斷的。但是孕期按時(shí)產(chǎn)檢，很多嚴(yán)重的胎兒畸形，比如唐氏綜合征，是可以在產(chǎn)前發(fā)現(xiàn)或干預(yù)的，這樣就可以避免很多不幸的發(fā)生。
 
 
今天我們來聊一下，孕期哪些檢查，可以判斷胎兒是否畸形呢？目前醫(yī)療上采用的手段有以下幾種：
 
1、B超：是胎兒畸形的首選篩查手段
 
很多人以為B超檢查“平平無奇”，實(shí)際上“B超大家族”中成員眾多，臨床應(yīng)用十分廣泛。孕期B超檢查項(xiàng)目主要包括普通B超、三維彩超、四維彩超、臍血流、NT以及超聲心動(dòng)等。而且很多其他操作，比如羊水穿刺也要配合B超一起進(jìn)行。
 
l 普通B超比較常見，整個(gè)孕期大概會(huì)做3-5次，主要用來了解胎兒在子宮內(nèi)的情況，同時(shí)還可以核對(duì)孕周，推算預(yù)產(chǎn)期。
 
l 三維、四維彩超準(zhǔn)確度更高，主要用于孕期22-24周進(jìn)行大排畸檢查。大排畸是孕期最全面的一次篩查胎兒生長(zhǎng)發(fā)育和胎兒結(jié)構(gòu)性異常的檢查。
 
l NT是孕早期一項(xiàng)畸形篩查檢測(cè)項(xiàng)目，主要是通過超聲來測(cè)量胎兒頸部透明帶的厚度。NT檢測(cè)正常值應(yīng)該小于3mm，超過6mm的時(shí)候胎兒患唐氏綜合征、染色體、遺傳綜合征和心臟問題的風(fēng)險(xiǎn)大大增加。
 
l 胎兒超聲心動(dòng)可以觀察心臟結(jié)構(gòu)和血流信號(hào)變化，是產(chǎn)前評(píng)估胎兒心臟畸形的最好的檢查手段。
 
 
 
2、唐篩：“唐氏篩查”簡(jiǎn)稱唐篩，是產(chǎn)檢必做項(xiàng)目之一。
 
唐篩最佳的篩查時(shí)機(jī)是孕14~20周，通過抽取母親的外周血，結(jié)合母親的體重、身高、孕周，計(jì)算出胎兒是否具有染色體異常的風(fēng)險(xiǎn)。
 
目前建議與孕媽媽做孕早期超聲NT檢查和孕中期唐篩兩次篩查，將結(jié)果共同計(jì)算得出唐氏兒風(fēng)險(xiǎn)，將最大限度地提高檢出率。單純血清學(xué)篩查時(shí)唐氏兒檢出率為85%，而聯(lián)合篩查方案的檢出率為90-95%。
 
若這兩項(xiàng)都過關(guān)，基本上準(zhǔn)爸媽們就不用過分擔(dān)心了。如果出現(xiàn)中/高風(fēng)險(xiǎn)結(jié)果，則需要再做進(jìn)一步的檢查。
 
3、無創(chuàng)DNA：也叫無創(chuàng)性胎兒染色體非整倍體檢測(cè)，它通過采集孕婦外周血，從而提取血液中胎兒游離的DNA，通過高通量測(cè)序的方法來檢測(cè)胎兒患有染色體異常的風(fēng)險(xiǎn)性。
 
無創(chuàng)在孕12~24周做都可以，而且準(zhǔn)確率要高于唐篩，僅就唐氏綜合征而言，檢出率達(dá)99%，但其結(jié)果仍只能是篩查，而不是診斷。如果無創(chuàng)DNA結(jié)果不合格，只能上羊水穿刺了。
 
 
 
4、羊水穿刺：目前為止胎兒染色體疾病產(chǎn)前診斷的金標(biāo)準(zhǔn)，準(zhǔn)確率可達(dá)100%。
 
羊水穿刺屬于有創(chuàng)性操作，而且可能有流產(chǎn)、感染等風(fēng)險(xiǎn)，因此僅在具有適應(yīng)癥，必須做羊穿的時(shí)候才能使用。羊水穿刺后胎兒的流失率大約0.5%，相對(duì)來說還是相當(dāng)安全的一種檢測(cè)手段。
 
羊水穿刺是通過一根細(xì)小的針，刺入羊膜囊抽取羊水或臍血，直接提取胎兒游離DNA進(jìn)行胎兒染色體異常的檢測(cè)。最佳檢測(cè)時(shí)間在孕18-22周，此時(shí)羊水量多，胎兒大小也合適，穿刺難度最小。
 
5、磁共振：磁共振檢查不存在電離輻射，對(duì)寶寶非常安全。多在20周后使用。
 
由于磁共振對(duì)軟組織分辨率很高、尤其對(duì)腦內(nèi)組織、腦室、腦血管分辨清晰，對(duì)腦發(fā)育結(jié)構(gòu)觀察較好。
 
比如孕媽過于肥胖、羊水過少查不清，或B超已查出胎兒先天畸形、中樞神經(jīng)系統(tǒng)異常等，就可以補(bǔ)充一個(gè)磁共振檢查，進(jìn)一步明確胎兒情況。

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