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多胎妊娠減胎前侵入性產(chǎn)前診斷5例臨床分析

發(fā)布時(shí)間:2018-03-11 06:32

  本文選題:多胎妊娠減胎 切入點(diǎn):侵入性產(chǎn)前診斷 出處:《山東大學(xué)》2014年碩士論文 論文類型:學(xué)位論文


【摘要】:背景和目的 由于近年來輔助生殖技術(shù)的應(yīng)用,多胎妊娠呈逐年增加趨勢,增加了母兒不良結(jié)局的發(fā)生率。選擇性減胎術(shù)主要用于多胎妊娠減少胎兒數(shù)目和減去異常胎兒,可以顯著改善妊娠結(jié)局。目前未進(jìn)行侵入性產(chǎn)前診斷的選擇性減胎多根據(jù)術(shù)中胎兒情況(包括體位、胎盤位置、絨毛膜性等)、手術(shù)操作難易程度、及非介入性產(chǎn)前診斷技術(shù)如B超檢查提示的胎兒頸項(xiàng)透明層厚度、胎兒畸形等指導(dǎo)進(jìn)行。但這種方法難以檢測出無重大超聲檢查結(jié)構(gòu)畸形胎兒的染色體畸形情況,并且不能確診存在非致死性畸形的胎兒是否為染色體畸形。傳統(tǒng)的多胎妊娠減胎(Multifetal pregnancy reduction, MFPR)病例中胎兒染色體檢測情況主要依賴于減胎后中孕期羊水穿刺檢查,但此時(shí)檢出的染色體異常胎兒已在減胎時(shí)被保留,患者將不得不面臨分娩染色體異常胎兒或者引產(chǎn)的選擇。因此于減胎前實(shí)施侵入性產(chǎn)前診斷是必要的。 多胎妊娠減胎前侵入性產(chǎn)前診斷技術(shù)是用于指導(dǎo)MFPR的一種有創(chuàng)性診斷方法,根據(jù)染色體核型結(jié)果指導(dǎo)多胎妊娠減胎,目前已在國外獲得較多應(yīng)用。不同于單胎妊娠,因?yàn)樯婕暗皆诙鄠(gè)胎兒中要準(zhǔn)確區(qū)分正常和異常胎兒,且為后續(xù)的正確減胎工作做準(zhǔn)備,多胎妊娠的產(chǎn)前診斷要比單胎妊娠復(fù)雜,重復(fù)性侵入性產(chǎn)前診斷在多胎妊娠中應(yīng)用的更多。 本研究主要通過分析5例實(shí)行多胎妊娠減胎前侵入性產(chǎn)前診斷病例,評估患者在實(shí)行產(chǎn)前診斷及減胎時(shí)手術(shù)方法的選擇,及胎兒定位方法。 方法 我們對2011年9月至2014年2月間在山東大學(xué)附屬山東省立醫(yī)院婦產(chǎn)科實(shí)行的5例多胎妊娠侵入性產(chǎn)前診斷后減胎病例進(jìn)行回顧性分析;颊呋蛞蛟衅诔R(guī)B超檢查異常,或有明確染色體、基因異常家族史、分娩史,而胎兒缺乏明確的染色體檢查結(jié)果或沒有明顯的致死性超聲可見畸形,在獲得患者知情同意后實(shí)行侵入性產(chǎn)前診斷后,根據(jù)染色體核型分析或基因檢測結(jié)果指導(dǎo)進(jìn)行減胎。所有病例均對病史,診斷過程,產(chǎn)前診斷及減胎操作過程、定位方法及妊娠結(jié)局等進(jìn)行記錄分析。 結(jié)果 5例實(shí)行多胎妊娠減胎前侵入性產(chǎn)前診斷病例均于減胎前實(shí)行羊水穿刺、臍血穿刺或胎兒心臟血穿刺術(shù),根據(jù)染色體核型分析或基因檢測結(jié)果確診預(yù)計(jì)被減胎兒染色體或基因異常后減胎。產(chǎn)前診斷及減胎時(shí)的定位方法主要為B超定位下根據(jù)胎盤位置、胎兒性別、胎位等分辨胎兒。5例病例中有4例患者已經(jīng)成功分娩無畸形兒,1例尚處于繼續(xù)妊娠中,產(chǎn)檢B超提示異常兒已被減胎。 結(jié)論 B超定位下根據(jù)胎兒、胎盤特征分辯胎兒在本實(shí)驗(yàn)中的應(yīng)用是可靠的,但由于本實(shí)驗(yàn)缺乏大樣本隨機(jī)對照研究,尚不能得出得出本方法是安全有效的結(jié)論。
[Abstract]:Background and purpose. Due to the application of assisted reproductive technology in recent years, the number of multiple pregnancies is increasing year by year, which increases the incidence of maternal and fetal adverse outcomes. Selective pregnancy reduction is mainly used to reduce the number of fetuses and subtract abnormal fetuses. The results of pregnancy can be significantly improved. At present, the selective fetal reduction without invasive prenatal diagnosis is based on the fetal position (including position, placenta position, chorionic villi, etc.), and the degree of difficulty in operation. And non-interventional prenatal diagnostic techniques such as the thickness of the transparent layer of the fetal neck and fetal malformation indicated by B-ultrasound. However, this method is difficult to detect chromosomal abnormalities in fetuses without major structural deformities. And it is impossible to confirm whether the fetus with non-fatal malformation is chromosomal malformation. The detection of fetal chromosomes in traditional multifetal pregnancy reductionis mainly dependent on amniocentesis during pregnancy. However, the detected chromosomal abnormal fetus has been retained at the time of fetal reduction, and the patient will have to face the choice of birth chromosomal abnormality fetus or induced labor. Therefore, it is necessary to carry out invasive prenatal diagnosis before fetal reduction. Invasive prenatal diagnosis technique for multiple pregnancy reduction is an invasive diagnostic method for guiding MFPR. It has been widely used in foreign countries according to the results of chromosome karyotype to guide multiple pregnancy reduction, which is different from single pregnancy. Because it involves accurately distinguishing between normal and abnormal fetuses in multiple fetuses and preparing for subsequent correct fetal reduction, the prenatal diagnosis of multiple pregnancies is more complicated than that of single pregnancies. Repeated invasive prenatal diagnosis is more widely used in multiple pregnancy. In this study, 5 cases of invasive prenatal diagnosis before multiple pregnancy reduction were analyzed to evaluate the choice of surgical methods and fetal localization in the course of prenatal diagnosis and fetal reduction. Method. From September 2011 to February 2014, we retrospectively analyzed 5 cases of multiple pregnancy induced by invasive prenatal diagnosis in gynecology and obstetrics department of Shandong Provincial Hospital affiliated to Shandong University. Or has a clear chromosome, a family history of genetic abnormalities, a history of childbirth, and a fetus that lacks a clear result of chromosome testing or has no visible deformity of visibly fatal ultrasound, and after obtaining the patient's informed consent, carries out invasive prenatal diagnosis, According to the results of chromosome karyotype analysis or gene test, all cases were recorded and analyzed for history, diagnostic process, prenatal diagnosis and fetal reduction operation, location method and pregnancy outcome. Results. 5 cases of multiple pregnancy with invasive prenatal diagnosis were performed amniocentesis, umbilical cord blood puncture or fetal heart blood puncture before fetal reduction. According to the results of chromosome karyotype analysis or gene detection, it was confirmed that the fetus could be reduced by chromosome or gene abnormality. The main methods of prenatal diagnosis and fetal reduction were based on placenta location, fetal sex, prenatal diagnosis and fetal reduction. Of the 5 cases of fetal iso-discrimination, 4 cases had successfully delivered 1 case without malformation and 1 case was in the process of continuing pregnancy. B ultrasound examination showed that the abnormal fetus had been reduced. Conclusion. It is reliable to identify the fetus in this experiment according to the fetal and placental characteristics under B-ultrasound localization. However, due to the lack of a large sample of randomized controlled studies in this experiment, it is not possible to conclude that this method is safe and effective.
【學(xué)位授予單位】:山東大學(xué)
【學(xué)位級別】:碩士
【學(xué)位授予年份】:2014
【分類號】:R714.23

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