左心室點狀強回聲?

12-26

本人25歲，第一胎，前天23周，四維彩超（二級）顯示左心室有一點狀強回聲。
計生辦產科門診醫生說有的人沒事，讓我去寶安婦幼優生門診諮詢。
預約到今天，諮詢了一下，說80%都沒事，但不排除染色體異常的可能。由於之前是二級彩超，所以建議再做一個三級彩超，檢查的項目多一些。如果還是只有這一個異常指標，說明風險更很低。如果出現其他指標也有異常的，就建議到上級醫院做羊水穿刺。並且告訴我羊水穿刺有流產的風險。
我想問，如果三級彩超仍只有這個強光點，是否定期複查？如果消失了。如果不是染色體異常，不是唐氏，那麼這個強回聲又是什麼呢？為什麼會出現呢？

EIF, 英文全稱EchogenicIntracardiac Focus （EIF或者EICF）, 或者又稱為IntracardiacEchogenic Foci (ICEF)，各種文獻上的名字有細小差別，翻譯為心臟內強回聲灶，由於EIF是在胎兒心臟影像學上是亮的白點看上去像一個小的白色高爾夫球，在超聲影像學中有Golfballs之稱。

起初對於胎兒心臟超聲檢查是想了解EIF跟出生後嬰兒先天性心臟結構性缺陷的聯繫。許多文獻都認為AndrewG. Schechter等人在1987年首次提出了EIF的概念和心臟腱索的功能有關，被廣泛用於孕中期超聲檢查的一項指標。
（註解：三尖瓣和二尖瓣皆由強韌的腱索（英語：Chordae tendinae）所固定，以免瓣葉被血液在心臟收縮（英語：Systole(medicine)）時所產生的強大液體壓迫開。腱索由尖瓣連接至心室的內壁的乳頭狀肌（英語：Papillarymuscle）之上。腱索的功能不良會導致血液錯誤倒流，大大減低氧氣和養分的輸送。）

Andrew G. Schechter et al. In Utero Thickening of the Chrodae Tendinae-A Cause of Intracardiac Echogenic Foci. J Ultrasound Med. 1987, 6:691-5

隨著超聲學的發展，EIF/ICEF作為超聲學上標誌物在影像學中的得到運用。帶來的問題有三個:

1. 是否和染色體異常（非整數倍）有相關性，

2. 是否與先天性心臟疾病有聯繫，

3. 是否意味著心臟結構的異常。

ANA CARRI?O etal. How Important is a Cardiac Echogenic Focus in a Routine Fetal Examination? RevPort Cardiol 2004; 23 (3) : 459-461

流行病學
根據現有的資料來看，通常發現在3-5%的正常懷孕胎兒中。另有研究顯示這個幾率在0.5%-12%，而常見的區域出現在左心室，一般研究占所有胎兒EIF的比例在88%-93%，也有出現在右心室（3-5%）、左右雙心室（3-7%）或心房（統計數字少）。
亞洲人群中的比例較高，該結論是根據AndreiRebarber等（2004）的一項對1997年-1999年154名14-24周孕中期婦女的回顧性綜述，在分析亞組日本人群中比例高達13.4%，平均孕期為19.8周，平均年齡為30.7±3.9歲，與之前美國發表的7.3%的患病率有統計學差異。

Andrei Rebarber et al. Anethnic predilection for fetal echogenic intracardiac focus identified duringtargeted midtrimester ultrasound examination: A retrospective review. BMCPregnancy and Childbirth. 2004,4:12

在染色體非整數倍的患兒中，唐氏綜合征（21三體綜合征）中出現先天性心臟病的概率大約在50%，人們認為EIF和染色體多倍體異常有關。BruceD. Rodgers, M.D.等認為現有的大多數的研究設計都存在一定偏差，這麼高比例的結果通常都是從納入這類已知高風險的人群的研究中獲得，因此實際上在低風險人群中的比例沒有這麼高。有研究發現孕期高風險例如染色體變異的人群中，這個比例通常為6%，低風險人群為3%。

影像學上的判斷和確認

關於EIF的確認，南澳洲圍產期關於多倍體超聲軟指標實踐指南中指出：

- 超聲技術依賴於設備和探頭的改進。對於EIF的確定需要減少心內結構引起的噪點的影響。
- 避免主觀評估
- 客觀上通過與骨骼的超聲回聲比較，需與鄰近的肋骨的強回聲類似
- 是否為EIF應通過降低超聲波直到只有骨骼可見時，回聲點依然存在的情況下方可確認

該標準通常認為是在孕中期即18-22周時做超聲檢查，也被國際上廣泛認可。對於影響因素除了儀器的精密度外，PoojaMittal等（2004）觀察了17618例影像資料，發現孕期肥胖（BMI&>30）會降低EIF的檢出率。而孕早期通過陰道探查可以檢出EIF，早期的檢出可能與染色體非整數倍疾病更為相關。

Pooja Mittal etal. Technical factors affecting the detection of echogenic intracardiac foci. AJOG.2004, 191(6): s181
SA Maternal Neonatal Clinical Network. SouthAustralian Perinatal Practice Guidelines. Ultrasound soft markers of aneuploidy(management of). ISBN number: 978-1-74243-241-0

病因學

基於有EIF新生兒心臟超聲隨訪和屍檢結果，BruceD. Rodgers, M.D總結出以下幾點：

1. 新生兒回聲：在乳頭肌和腱索區持續灶。

2. 新生兒屍檢：對103名嬰兒進行屍檢，16％的21三體和39%的13三體綜合征中出現中中央乳頭肌的鈣化，檢出的這種鈣化與產前超聲的EIF相關。

3. 新生兒回聲：異常腱索

4. 新生兒屍檢：產前診斷EIF的2倍體和4 倍體的正常胎兒中心肌內鈣化纖維化，並有相關性。

在染色體異常（非整數倍）的胎兒中，屍檢結果顯示病因主要為乳頭肌的微小礦物質化或微小鈣化。一些新生兒的研究中發現在腱索區出現的回聲點等顯示腱索區部分穿孔或增厚是其病因，而且有一些研究認為鈣化伴隨著纖維化。

在這些病因學的回顧中，仍然以三種說法為主
1. 與染色體非整數倍相關
2. 先天性心臟腱索功能異常有關
3. 乳頭肌的鈣化

Bruce D.Rodgers, M.D. Intracardiac Echogenic Foci, http://www.acsu.buffalo.edu/

臨床意義

早期EIF被認為並無顯著的臨床意義。現通常情況下，一旦超聲檢出EIF，一般考慮以下三種疾病的風險增加：

1. 染色體非整數倍

2. 先天性心臟疾病

3. 心臟功能不全

Bromley 等在1995年報告稱，1334例患者中出現4.9%的EIF，18%的患兒為21三體。染色體異常中，以唐氏綜合征為主（21號染色體），通常在每600-800個出生存活的嬰兒中出現一例，另外還有18號和13號染色體成三倍或多倍。而孕早中期的唐氏篩查的風險也是通過血液學指標檢測及產期年齡共同計算出來。由於多項研究表明35歲以上的孕婦的唐氏綜合征顯著增加，因此風險的計算都在年齡基礎上。通常情況下，30歲產年齡是23歲的2倍。

Bromley B, Lieberman E, Laboda L, Benacerraf BR: EchogenicIntracardiac Focus - A Sonographic Sign for Fetal Down-Syndrome. Obstetrics andGynecology 1995, 86:998–1001.

2005年加拿大婦產科學會推薦在孕中期（16-20周）的女性超聲檢查需要涉及以下8項軟指標：

1. 頸項軟組織增厚(NT值) LR=17

2. 腸管回聲增強LR=6

3.輕度腦室擴張

4. 心臟回聲光點（EIF）

5. 囊腫

6. 單臍動脈

7.小腦延髓池擴大

8. 腎盂分離

其中前五條與胎兒染色體異常風險增加有關，在一些病例中也與非染色體疾病相關；後三條與非染色體疾病風險增加有關（II-2B類）。
Michiel C. Van den Hof, MD,Halifax NS et al .Fetal Soft Markers in Obstetric Ultrasound.J Obstet Gynaecol Can2005;27(6):592–612

這裡提到另一個概念，似然比（LikelihoodRatios，LR），研究表明EIF作為一個獨立的影響因子，對於染色體異常疾病風險增加為2倍，即LR=2。該結果為染色體異常高風險人群和低風險人群EIF比例的比值。換句話說，超聲檢測出EIF的孕婦，胎兒的唐氏綜合征風險增加2倍。另外從南澳洲圍產期關於多倍體超聲軟指標實踐指南中提到，NT值的LR為17，腸管回聲增強LR為6，腎盂分離在1.4左右（無統計學意義）。

但根據研究中風險因子的比較，一些專家認為正常孕中期出現獨立的EIF，無法判斷和染色體異常有顯著相關性，需要結合其他的軟指標和唐篩結果。尤其是處於絕大多數位於左心室的EIF。位於其他心臟腔室內的EIF可能跟染色體或心臟結構異常更為相關。

另兩項關於心臟功能，更多研究認為其是一種良性表現，大多為增厚的腱索或乳頭肌所致，也有可能為部分異位肌束所致，乳頭肌鈣化是因為血管系統發育過程中缺血所致，也有觀點認為心肌乳頭肌鈣化是微血管發育過程中出現的正常變異。

另有學者認為胎兒時期其心臟的腱索之間間隙較小，很多腱索聚集在一起時在聲場中的回聲發生改變產生出較正常回聲明顯增強的效應。

Towner D，GerscovichEO，Chiong BB et al. Comparisonof single versus multiple echogenic foci in the fetal heart regarding risk ofaneuploidy. J Ultrasound Med，2010, 29(7): 1061-1067.
Diket AL，Nolan TE. Anxiety and depression：Diagnosis and treatment during pregnancy. ObstetGynecol Clin North Am，1997，24（3）：535－558

張穎等的研究的初步結果顯示胎兒超聲心動圖檢出的胎兒心臟內強回聲結構，絕大多數為一過性的，預後良好，不伴有明顯心血管畸形或其他胎兒畸形，對於持久存在的胎兒心臟內強回聲結構，應在胎兒出生後隨訪超聲心動圖，排除可能存在的胎兒期超聲心動圖未能檢出的心血管畸形。
張穎等. 超聲對胎兒心室內強回聲光團的診斷及臨床意義. 中國醫科大學學報. 2011, 40(5): 439-441
概括
心室內的強回聲光團可能是正常結構上的一種變異或胎兒時期可能產生的一過性表現而不是一種病理性的改變。EIF是否作為獨立的染色體變異的指標仍然頗具爭議。

不用擔心的。網上流傳的那個2%的比例指的是白人人種。我在國外做的24周產檢，不同醫院的兩個b超專家（都是從事教學任務的三級醫院以上的—類似於國內三甲以上級別的醫療機構）都告訴我說「左心室強光點」對亞裔來說非常正常、是極其普遍的現象。

國外的大部分亞裔人種的寶寶都有這個。

強光點不具有臨床診斷意義，胎兒心臟健康需要看其他方面。
在做這個18～24周的大排畸時根本不把這個強光點當回事兒，而是更注重檢測媽媽給寶寶提供的血流量（一個波形圖顯示媽媽提供給寶寶血流量、看寶寶是否得到足夠的氧氣和營養），寶寶的心跳的那個圖（有點類似於成人的心電圖，你能看到一個個心跳的波形圖，和聽到寶寶心臟有節律的跳動），和看心臟跳動收縮的細節（把心臟放大看細節的收縮動態和心臟內血流情況）通過這些方面來看是否正常

這邊b超專家普遍認為這樣的強光點沒有複查的必要，
因為實在是非常普遍正常的現象。是不是會檢查出這個強光點受以下幾個因素的影響：
1 B超機當時所調的強度，
2 媽媽肚皮上的脂肪，
3 做檢查時血液中血紅蛋白含量都有關，

所以有可能你用這個機器檢測會有而另一個醫療機構的另一台機子又會說沒有，也有這周檢查有而過兩周檢查又沒有了的現象，它本身僅僅是當時檢測出的超聲現象會寫出來而已，不會當作是什麼問題

請聽醫囑。
這種問題在知乎上你覺得能得到答案么，說好了，你不當回事，說嚴重了，自己又被嚇得不行。

這篇問答很中肯，國外已有臨床研究，認為只是心室點狀強回聲一個指標，不認為會增加染色體體變異有關的風險，應當綜合檢查，譬如，做胎兒超聲心動，但有窗口期，而且有資格的醫院不多。下面是在美國ncbi查到的論文的摘要，認為單個的心室強回聲這個指標，與染色體變異風險的增加的關聯性，比較小，有的甚至認為沒關聯，下面是論文標題以及結論，供大家參考。

醫學檢查只是一個手段，沒人能保證什麼，重慶有個醫生寫了篇文章，說當有點狀強回聲後，寶寶出生後被發現有染色體異常的概率比沒有點狀強回聲的寶寶要大5-10倍左右，卻沒有提供臨床研究來支持這個觀點。知乎的這篇問答將所有的可能性進行介紹，更具參考性！孕婦的保持一個較好的心態比什麼都重要。大家如有擔心想做，無創確實是更好的選擇，比羊穿和臍穿相對危險性更小，而準確率更高。

論文1: Significance of fetal intracardiac echogenic foci in relation to trisomy 21: a prospective sonographic study of high-risk pregnant women.

CONCLUSION: In a high-risk obstetric population, the association between fetal intracardiac echogenic foci and trisomy 21 was statistically significant. Therefore, women carrying fetuses with intracardiac echogenic foci should be informed of the statistical association with trisomy 21.

Author information:Department of Radiological Sciences, UCLA School of Medicine 90095-6969, USA.

98年的論文只是說應當通知數據關聯性。

論文2 :Isolated echogenic intracardiac foci in patients with low-risk triple screen results: assessing the risk of trisomy 21.

CONCLUSION: An isolated EIF with a low risk TS is not associated with an increased risk of T21.單個的EIF與21三體（唐氏病人）風險增加無關。

Author information: Division of Maternal-Fetal Medicine, New York University, New York 10016, USA. koklan01@med.nyu.edu

論文3:Isolated echogenic foci in the fetal heart: do they increase the risk of trisomy 21 in a population previously screened by nuchal translucency?

CONCLUSION: The finding of isolated echogenic foci at the time of the 20 week-scan does not significantly change the risks of trisomy 21 if background risk and previous nuchal translucency measurements are taken into account in the individual risk calculation. We suggest that no further adjustments to risk should be used.

Author information: Fetal Medicine Unit, Department of Obstetrics and Gynaecology, Royal Brompton and Harefield Hospital, Sydney Street, London SW3 6NP, UK.

論文4 :The association between isolated fetal echogenic cardiac foci on second-trimester ultrasound scan and trisomy 21 in low-risk unselected women.

CONCLUSION:In an otherwise healthy pregnancy, the finding of isolated FECF on a routine second-trimester anomaly scan is normal and should not be considered as a risk factor for trisomy 21 in an unselected low-risk population.

Author information Department of Obstetrics Gynaecology, Northwick Park St Mark"s NHS Trust, Harrow, Middlesex, UK. pauline.mills@nwlh.nhs.uk

論文5 : How important is a cardiac echogenic focus in a routine fetal examination?

CONCLUSION: Echogenic foci are commonly seen inside heart chambers during routine fetal heart scanning, the left ventricle being the most frequent location. Although they probably represent a normal variant of papillary muscle development their presence should

be interpreted as a possible risk for congenital heart defects.

Author information: Department of Obstetrics and Gynecology and Paediatric Cardiology, Porto Medical School, CARDIOFETUS, Centro Diagnóstico da Mulher e da Crian?a, Porto, Portugal. acarrico@sapo.pt

論文6: Prenatal ultrasonographic diagnosis of fetal heart echogenic foci: no correlation with Down syndrome.

CONCLUSION: Although the echogenic intracardiac focus appears to be associated with a small increased risk of Down syndrome, its use as a screening tool in low-risk populations would lead to a large number of amniocenteses and miscarriages to identify a small number of Down syndrome fetuses.

Author information: Department of Obstetrics and Gynecology, Chaim Sheba Medical Center, Tel Hashomer, Israel.

論文7 :Echogenic intracardiac foci: associated with increased risk for fetal trisomy 21 or not?

CONCLUSIONS: The finding of an isolated EIF on prenatal sonography does not significantly increase the risk for fetal T21 in populations not otherwise at an increased risk for the disorder. An isolated EIF should be considered an incidental finding in patients younger than 35 years and in those without abnormal serum aneuploidy screening results.

Author information:Department of Obstetrics and Gynecology, Washington University School of Medicine, Campus Box 8064, 660 S Euclid Ave, St Louis, MO 63110, USA shanksa@wudosis.wustl.edu

論文8: The impact of the use of the isolated echogenic intracardiac focus as a screen for Down syndrome in women under the age of 35 years.

Author information 1Department of Obstetrics, Gynecology Reproductive Sciences, University of California, San Francisco 94143, USA. caugheya@obgyn.ucsf.edu

論文9: Correlation and overlapping between nuchal translucency and triple test among Down syndrome-affected pregnancies.

CONCLUSIONS: The degree of overlapping of one third, between NT and TT, confirms the assumption that both tests utilized together improves DS detection. Screen- negative result, by both tests simultaneously, may reassure low-risk population and aid to reduce the number of non-indicated invasive tests.

Author information: Department of Obstetrics and Gynecology and Genetic Institute, Assaf Harofeh Medical Center, Zerifin, and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. aherman@asaf.health.gov.il

論文10:

http://www.ncbi.nlm.nih.gov/pubmed/17635467

Echogenic intracardiac focus and choroid plexus cysts are common findings at the midtrimester ultrasound. These findings have been linked with an increased risk of Down syndrome and trisomy 18. Most fetuses with these findings will, however, not have chromosomal abnormalities, especially when these findings are isolated. Patients experience considerable anxiety when informed of these findings and require extensive counselling in order to minimize anxiety not only about aneuploidy but also about the structure and development of the heart and brain. Although early studies showed an association with aneuploidies, several recent studies have cast doubt on this association. Many of the early studies were carried out in high-risk populations or in populations that had not had the benefit of other screening tests. Many Australian and New Zealand patients will access screening tests designed to detect these aneuploidies before presenting for a midtrimester ultrasound. Patients who have been screened by nuchal translucency, maternal serum screening or some combination of the two will already have had most cases of Down syndrome and trisomy 18 detected, and any soft marker found will almost certainly be a false positive. It is time to rethink the management of these markers. Recent evidence indicates that if these markers are found in isolation in an otherwise low-risk pregnancy, then there is minimal or no increase in the risk of Down syndrome or trisomy 18: these markers should be considered normal variants. The Australian Association of Obstetrical and Gynaecological Ultrasonologists consensus statement on these markers is included.

Author information: Ultrasound Department, The Royal Women"s Hospital, Victoria, Australia. bethunes@gmail.com

Fetal soft markers in obstetric ultrasound.

RECOMMENDATIONS:

1. The screening ultrasound at 16 to 20 weeks should evaluate 8 markers, 5 of which (thickened nuchal fold, echogenic bowel, mild ventriculomegaly, echogenic focus in the heart, and choroid plexus cyst) are associated with an increased risk of fetal aneuploidy, and in some cases with nonchromosomal problems, while 3 (single umbilical artery, enlarged cisterna magna, and pyelectasis) are only associated with an increased risk of nonchromosomal abnormalities when seen in isolation (II-2 B). 2. Identification of soft markers for fetal aneuploidy requires correlation with other risk factors, including history, maternal age, and maternal serum testing results (II-1 A). 3. Soft markers identify a significant increase in fetal risk for genetic disease. Timely referral for confirmation, counselling, and investigation is required to maximize management options (III-B).

Author information: Van den Hof MC, Wilson RD; Diagnostic Imaging Committee, Society of Obstetricians and Gynaecologists of Canada; Genetics Committee, Society of Obstetricians and Gynaecologists of Canada.

Echogenic intracardiac foci: disclosure and the rate of amniocentesis in low-risk patients.

CONCLUSION: Except for those at highest risk, rates of invasive testing were significantly higher in pregnancies with isolated EIF vs those at comparable risk.

Author information:Department of Obstetrics and Gynecology, Weill Cornell Medical College, New York, NY.

我懷孕22周做大排畸檢查的時候也顯示心臟左心室腔點狀強回聲灶，找醫生看結果的時候醫生建議做無創DNA篩查一下，正好在這個檢查之前我已經做過無創，結果低風險，醫生說無創沒有什麼問題那心臟這個應該也不會有問題，如果不放心可以再做心臟彩超看下，我沒有做，因為這次檢查心臟查的也比較仔細，只有回聲灶這一個問題，後來寶寶出生現在快兩歲啦，健健康康。

我老婆也檢查出來「嬰兒左心室灶狀強回聲」，有點怕怕的