BACKGROUND Persistent left superior vena cava(PLSVC)is the most common venous system variant.The clinical characteristics and amniotic fluid cytogenetics of fetuses with PLSVC remain to be further explored.AIM To deve...BACKGROUND Persistent left superior vena cava(PLSVC)is the most common venous system variant.The clinical characteristics and amniotic fluid cytogenetics of fetuses with PLSVC remain to be further explored.AIM To develop reliable prenatal diagnostic recommendations through integrated analysis of the clinical characteristics of fetuses with PLSVC.METHODS Cases of PLSVC diagnosed using prenatal ultrasonography between September 2019 and November 2022 were retrospectively studied.The clinical characteristics of the pregnant women,ultrasonic imaging information,gestational age at diagnosis,pregnancy outcomes,and amniocentesis results were summarized and analyzed using categorical statistics and the chi-square test or Fisher’s exact test.RESULTS Of the 97 cases diagnosed by prenatal ultrasound,49(50.5%)had isolated PLSVC and 48(49.5%)had other structural abnormalities.The differences in pregnancy outcomes and amniocentesis conditions between the two groups were statistically significant(P<0.05).No significant differences were identified between the two groups in terms of advanced maternal age and gestational age(P>0.05).According to the results of the classification statistics,the most common intrac-ardiac abnormality was a ventricular septal defect and the most common extrac-ardiac abnormality was a single umbilical artery.In the subgroup analysis,the concurrent combination of intra-and extracardiac structural abnormalities was a risk factor for adverse pregnancy outcomes(odds ratio>1,P<0.05).Additional-ly,all abnormal cytogenetic findings on amniocentesis were observed in the comorbidity group.One case was diagnosed with 21-trisomy and six cases was diagnosed with chromosome segment duplication.CONCLUSION Examination for other structural abnormalities is strongly recommended when PLSVC is diagnosed.Poorer pregnancy outcomes and increased amniocentesis were observed in PLSVC cases with other structural abnor-malities.Amniotic fluid cytogenetics of fetuses is recommended for PLSVC with other structural abnormalities.展开更多
BACKGROUND Persistent left superior vena cava(PLSVC),a relatively rare thoracic vascular malformation,can inconvenience perfusionists and operators when encountered during deep hypothermic circulatory arrest(DHCA).CAS...BACKGROUND Persistent left superior vena cava(PLSVC),a relatively rare thoracic vascular malformation,can inconvenience perfusionists and operators when encountered during deep hypothermic circulatory arrest(DHCA).CASE SUMMARY Herein,we describe the case of a patient with concurrent giant aortic arch aneurysm,aortic stenosis,and PLSVC.To treat these conditions,we performed right hemiarch and aortic valve replacements under DHCA.Notably,we applied“bilateral superior vena cava retrograde cerebral perfusion(RCP)”for cerebral protection,which significantly optimized the surgical procedure and reduced the risk of postoperative complications.The patient was discharged 14 d after surgery with no complications.CONCLUSION Surgical intervention for PLSVC under DHCA can be performed using the bilateral superior vena cava RCP approach.展开更多
BACKGROUND Reports on peripherally inserted central catheter(PICC)placement in neonates with persistent left superior vena cava(PLSVC)are rare.The majority of PLSVC patients have no clinical symptoms or hemodynamic ch...BACKGROUND Reports on peripherally inserted central catheter(PICC)placement in neonates with persistent left superior vena cava(PLSVC)are rare.The majority of PLSVC patients have no clinical symptoms or hemodynamic changes,which are usually detected during cardiac catheterization,cardiac pacemaker implantation,or PICC placement.However,in neonates with PLSVC,PICC placement can be challenging.Here,we report PICC placement in eight neonates with PLSVC.CASE SUMMARY This article introduces the concept of the“TIMB”bundle.After PICC implantation,we found PLSVC in all eight patients.The key points of care regarding PICC placement in neonates with PLSVC included“TIMB”,where“T”indicates a reasonable choice of the catheterization time,“I”refers to a retrospective analysis of imaging data before catheterization,“M”refers to correct measurement of the body surface length,and“B”indicates that the tip of the PICC is placed in the middle and lower 1/3 of the left superior vena cava under the guidance of B-ultrasound.CONCLUSION“TIMB”is a bundle for PICC placement in neonates,especially for those with PLSVC.Using this new approach can improve the first-attempt success rate of PICC placement,reveal cardiovascular abnormalities in advance,allow the selection of different measurement methods reasonably according to the puncture site,and finally,improve the accuracy of catheter positioning through the use of B-ultrasound guidance.展开更多
A 65-year-old man with right central type of lung squamous carcinoma was admitted to our department.Bronchoscopy displayed complete obstruction of right upper lobe bronchus and infiltration of the bronchus intermedius...A 65-year-old man with right central type of lung squamous carcinoma was admitted to our department.Bronchoscopy displayed complete obstruction of right upper lobe bronchus and infiltration of the bronchus intermedius with tumor.Chest contrast computed tomography revealed the tumor invaded right pulmonary artery,superior vena cava,and the persistant left superior vena cava flowed into the coronary sinus.The tumor was successfully removed by means of bronchial and pulmonary artery sleeve resection of the right upper and middle lobes combined with resection and reconstruction of superior vena cava(SVC)utilizing ringed polytetrafluoroethylene graft.To the best of our knowledge,this was the first report of complete resection of locally advanced lung cancer involving superior vena cava,right pulmonary artery trunk and main bronchus with persistant left superior vena cava.展开更多
BACKGROUND Breast cancer poses a great threat to females worldwide.There are various therapies available to cure this common disease,such as surgery,chemotherapy,radiotherapy,and immunotherapy.Implantable venous acces...BACKGROUND Breast cancer poses a great threat to females worldwide.There are various therapies available to cure this common disease,such as surgery,chemotherapy,radiotherapy,and immunotherapy.Implantable venous access ports(IVAP,referred to as PORT)have been widely used for breast cancer chemotherapy.Venous malformations are possible conditions encountered during PORT implantation.Persistent left superior vena cava(PLSVC)is a common superior vena cava malformation.Most patients have normal right superior vena cava without affecting hemodynamics,so patients often have no obvious symptoms.CASE SUMMARY We incidentally found that two patients had PLSVC while a PORT was implanted via the internal jugular vein.Due to chemotherapy for breast cancer,PORT was successfully implanted under the guidance of ultrasound into these 2 patients.Positive chest X-ray examination after the operation showed that the catheter ran beside the left mediastinum and the end was located in the seventh thoracic vertebra.The patients had no catheter-related complications and successfully completed the course of chemotherapy.Ultrasonography found that the ratio of PORT outer diameter to PLSVC inner diameter was less than 0.45,which was in line with the recommendations of relevant literature and operating guidelines.The purpose of this article is to introduce two rare cases and review the relevant literature.CONCLUSION Correct assessment of PLSVC status and ultrasound-guided PORT placement generally does not affect breast cancer patients chemotherapy.展开更多
The persistence of left superior vena cava (PLSVC) is the most common congenital anomaly of the venous return system to the heart. Because of the increasing number of patients referred for cardiac resynchronization th...The persistence of left superior vena cava (PLSVC) is the most common congenital anomaly of the venous return system to the heart. Because of the increasing number of patients referred for cardiac resynchronization therapy (CRT) devices implantations, it is expected to encounter this venous anatomic variation. Left ventricular lead placement at an appropriate site is an integral and technically challenging part of successful CRT. In case of cardiac abnormalities could be difficult to achieve an optimal cardiac rhythm management devices implantation. Previous reports in patients with PLSVC highlighted the challenges to achieve an optimal cardiac rhythm device implantation. Recently, a new quadripolar active fixation left ventricular lead is available for CRT device implantation. Hereby we report a case of a device upgrading from dual-chamber pacemaker to CRT with defibrillator backup using the active fixation left ventricular quadripolar lead in a patient with PLSVC and right superior vena cava atresia.展开更多
<div style="text-align:justify;"> A persistent left superior vena cava (PLSVC) is a rare malformation which affects approximately 0.3<span>% </span><span>-</span><span> &l...<div style="text-align:justify;"> A persistent left superior vena cava (PLSVC) is a rare malformation which affects approximately 0.3<span>% </span><span>-</span><span> </span><span>0.5% of the population and it is presented along with a right-sided superior vena cava in 82.2% of the cases reported</span><span minion="" pro="" capt","serif";color:#943634;"="" style=""> </span><span minion="" pro="" capt","serif";color:#943634;background:yellow;"=""></span><span>[<a href="#ref1">1</a>]</span><span color:#943634;background:yellow;"=""></span><span minion="" pro="" capt","serif";color:#943634;background:yellow;"=""></span><span>.</span><span "=""><span> Clinicians diagnose it incidentally by difficulties with pacemaker implantation, central venous catheterization or screening for another etiologies when it is not accompanied by other anomalies it is typically asymptomatic. W. Schummer </span><i><span>et al.</span></i><span> described the embryogenesis and the anatomic variations of persistent LSVC according to the positioning of a central venous catheter on the chest radiograph: type I, normal;type II, only PLSVC;type IIIa, right and left superior vena cava with connection;type IIIb, right and left superior vena cava without connection</span></span><span> </span><span>[<a href="#ref2">2</a>]</span><span>. </span><span "=""><span>In 92% of individuals with PLSVC, the PLSVC drains into a dilated coronary sinus (CS) and rest 8% drain directly into the left atrium. PLSVC is caused by a failure in the closure of the left anterior cardinal vein during embryogenic development</span></span><span minion="" pro="" capt","serif";color:#943634;"=""><span> </span><span style="background:yellow;"></span></span><span color:#943634;"=""><span>[<a href="#ref3">3</a>]</span><span style="background:yellow;"></span></span><span minion="" pro="" capt","serif";color:#943634;background:yellow;"=""></span><span>. </span><span>The coronary sinus (CS) is a vein that transmits venous blood to the right atrium though atrioventricular groove. The CS wall contains atrial myocardium. Thus, it</span><span>s size</span><span> extensively depend</span><span>s</span><span> on variability of blood flow and pressure. We present a variant PLSVC with unknown prevalence and a mild </span><span>platypnea-orthodeoxia</span><span> </span><span>syndrome</span><span> after recovery of COVID-19 related acute respiratory distress syndrome (ARDS).</span> </div> <a href="#ref2"></a>展开更多
Persistent left superior vena cava, usually an incidental finding, is the most common thoracic vein anatomical variation draining into the coronary sinus. Central venous catheter procedures may be complicated secondar...Persistent left superior vena cava, usually an incidental finding, is the most common thoracic vein anatomical variation draining into the coronary sinus. Central venous catheter procedures may be complicated secondary to the presence of a persistent left superior vena cava, leading to life-threatening complications such as arrhythmias, cardiogenic shock, and cardiac arrest. We present a case of persistent superior vena cava diagnosed on transthoracic echocardiogram(TTE) in a patient with congestive heart failure. A dilated coronary sinus was identified on TTE, followed by injection of agitated saline into the left antecubital vein resulting in filling of the coronary sinus prior to the right atrium-an indication of persistent left superior vena-cava. This also was confirmed on cardiac computed tomography. Such a diagnosis is critical in patients who may undergo central venous catheter procedures such as our patient's potential requirement for an implantable cardiovertor defibrillator due to severe global left ventricular systolic dysfunction. The presence of a persistent left superior vena cava should always be suspected when the guidewire takes a left-sided downward course towards the rightatrium at the level of the coronary sinus. Therefore, special attention should be paid to the imaging work-up prior to central venous catheter procedures.展开更多
Transjugular intrahepatic portosystemic shunt (TIPSS) is considered a valid therapeutic option for the treatment of portal hypertension and its complications.The guidelines for this procedure have already been establi...Transjugular intrahepatic portosystemic shunt (TIPSS) is considered a valid therapeutic option for the treatment of portal hypertension and its complications.The guidelines for this procedure have already been established on the basis of the normal vascular anatomy and of various technical radiological aspects.In some few rare cases,diagnosis of a congenital vascular anomaly can be made accidentally by interventional radiologists,making the procedure of the TIPSS placement extremely difficult or in some cases technically impossible.This report describes a rare vascular malformation characterized by the absence of the right superior vena cava and persistence of the left superior vena cava in a patient with a diagnosis of advanced liver cirrhosis who needed a TIPSS placement in order to control refractory ascites.展开更多
【目的】探讨染色体微阵列分析技术(CMA)在全基因组水平分析持续性左上腔静脉(PLSVC)胎儿遗传性病因的临床应用价值。【方法】2014年1月至2016年12月在中山大学附属第一医院行胎儿系统超声筛查提示持续性左上腔静脉且在我院产前诊断中...【目的】探讨染色体微阵列分析技术(CMA)在全基因组水平分析持续性左上腔静脉(PLSVC)胎儿遗传性病因的临床应用价值。【方法】2014年1月至2016年12月在中山大学附属第一医院行胎儿系统超声筛查提示持续性左上腔静脉且在我院产前诊断中心接受常规染色体核型分析和CMA检测的81例胎儿纳入研究,比较持续性左上腔静脉胎儿核型分析和CMA检测染色体异常的检出率差异。根据是否合并其他超声异常,分为单纯组及合并异常组,比较单纯组与合并异常组染色体异常检出率差异。【结果】核型分析的异常率为18.5%(15/81),CMA的异常检出率为23.5%(19/81);两种检测方法染色体异常的检出率比较,差异无统计学意义(P=0.44)。CMA在核型正常的持续性左上腔静脉胎儿中,额外检出6.1%(4/66)具有临床意义的染色体微缺失或微重复,且均合并其他异常。单纯组12例(14.8%,12/81),合并异常组69例(85.2%,69/81)。两组间染色体异常的检出率差异无统计学意义(26.1%,18/69 vs. 8.3%,1/12,P=0.277)。合并异常组中房室间隔缺损、颜面部异常,以及多发超声软指标异常在染色体异常胎儿中的检出率显著高于染色体正常胎儿(P=0.030,P=0.012,P=0.014)。【结论】在持续性左上腔静脉胎儿中,特别是合并其他超声异常时,染色体微阵列分析可检测出传统核型分析无法检出的染色体微缺失/微重复,对产前诊断及遗传学咨询具有重要价值。展开更多
文摘BACKGROUND Persistent left superior vena cava(PLSVC)is the most common venous system variant.The clinical characteristics and amniotic fluid cytogenetics of fetuses with PLSVC remain to be further explored.AIM To develop reliable prenatal diagnostic recommendations through integrated analysis of the clinical characteristics of fetuses with PLSVC.METHODS Cases of PLSVC diagnosed using prenatal ultrasonography between September 2019 and November 2022 were retrospectively studied.The clinical characteristics of the pregnant women,ultrasonic imaging information,gestational age at diagnosis,pregnancy outcomes,and amniocentesis results were summarized and analyzed using categorical statistics and the chi-square test or Fisher’s exact test.RESULTS Of the 97 cases diagnosed by prenatal ultrasound,49(50.5%)had isolated PLSVC and 48(49.5%)had other structural abnormalities.The differences in pregnancy outcomes and amniocentesis conditions between the two groups were statistically significant(P<0.05).No significant differences were identified between the two groups in terms of advanced maternal age and gestational age(P>0.05).According to the results of the classification statistics,the most common intrac-ardiac abnormality was a ventricular septal defect and the most common extrac-ardiac abnormality was a single umbilical artery.In the subgroup analysis,the concurrent combination of intra-and extracardiac structural abnormalities was a risk factor for adverse pregnancy outcomes(odds ratio>1,P<0.05).Additional-ly,all abnormal cytogenetic findings on amniocentesis were observed in the comorbidity group.One case was diagnosed with 21-trisomy and six cases was diagnosed with chromosome segment duplication.CONCLUSION Examination for other structural abnormalities is strongly recommended when PLSVC is diagnosed.Poorer pregnancy outcomes and increased amniocentesis were observed in PLSVC cases with other structural abnor-malities.Amniotic fluid cytogenetics of fetuses is recommended for PLSVC with other structural abnormalities.
基金Technology Innovation and Application Development Project of Chongqing,No.2021yc-cxfz30016.
文摘BACKGROUND Persistent left superior vena cava(PLSVC),a relatively rare thoracic vascular malformation,can inconvenience perfusionists and operators when encountered during deep hypothermic circulatory arrest(DHCA).CASE SUMMARY Herein,we describe the case of a patient with concurrent giant aortic arch aneurysm,aortic stenosis,and PLSVC.To treat these conditions,we performed right hemiarch and aortic valve replacements under DHCA.Notably,we applied“bilateral superior vena cava retrograde cerebral perfusion(RCP)”for cerebral protection,which significantly optimized the surgical procedure and reduced the risk of postoperative complications.The patient was discharged 14 d after surgery with no complications.CONCLUSION Surgical intervention for PLSVC under DHCA can be performed using the bilateral superior vena cava RCP approach.
基金Supported by the 2017 Scientific Research Project of Sichuan Health and Family Planning Commission,No.18PJ215.
文摘BACKGROUND Reports on peripherally inserted central catheter(PICC)placement in neonates with persistent left superior vena cava(PLSVC)are rare.The majority of PLSVC patients have no clinical symptoms or hemodynamic changes,which are usually detected during cardiac catheterization,cardiac pacemaker implantation,or PICC placement.However,in neonates with PLSVC,PICC placement can be challenging.Here,we report PICC placement in eight neonates with PLSVC.CASE SUMMARY This article introduces the concept of the“TIMB”bundle.After PICC implantation,we found PLSVC in all eight patients.The key points of care regarding PICC placement in neonates with PLSVC included“TIMB”,where“T”indicates a reasonable choice of the catheterization time,“I”refers to a retrospective analysis of imaging data before catheterization,“M”refers to correct measurement of the body surface length,and“B”indicates that the tip of the PICC is placed in the middle and lower 1/3 of the left superior vena cava under the guidance of B-ultrasound.CONCLUSION“TIMB”is a bundle for PICC placement in neonates,especially for those with PLSVC.Using this new approach can improve the first-attempt success rate of PICC placement,reveal cardiovascular abnormalities in advance,allow the selection of different measurement methods reasonably according to the puncture site,and finally,improve the accuracy of catheter positioning through the use of B-ultrasound guidance.
文摘A 65-year-old man with right central type of lung squamous carcinoma was admitted to our department.Bronchoscopy displayed complete obstruction of right upper lobe bronchus and infiltration of the bronchus intermedius with tumor.Chest contrast computed tomography revealed the tumor invaded right pulmonary artery,superior vena cava,and the persistant left superior vena cava flowed into the coronary sinus.The tumor was successfully removed by means of bronchial and pulmonary artery sleeve resection of the right upper and middle lobes combined with resection and reconstruction of superior vena cava(SVC)utilizing ringed polytetrafluoroethylene graft.To the best of our knowledge,this was the first report of complete resection of locally advanced lung cancer involving superior vena cava,right pulmonary artery trunk and main bronchus with persistant left superior vena cava.
基金Supported by Key Research and Development Projects of Shaanxi Province,No.2019SF-064。
文摘BACKGROUND Breast cancer poses a great threat to females worldwide.There are various therapies available to cure this common disease,such as surgery,chemotherapy,radiotherapy,and immunotherapy.Implantable venous access ports(IVAP,referred to as PORT)have been widely used for breast cancer chemotherapy.Venous malformations are possible conditions encountered during PORT implantation.Persistent left superior vena cava(PLSVC)is a common superior vena cava malformation.Most patients have normal right superior vena cava without affecting hemodynamics,so patients often have no obvious symptoms.CASE SUMMARY We incidentally found that two patients had PLSVC while a PORT was implanted via the internal jugular vein.Due to chemotherapy for breast cancer,PORT was successfully implanted under the guidance of ultrasound into these 2 patients.Positive chest X-ray examination after the operation showed that the catheter ran beside the left mediastinum and the end was located in the seventh thoracic vertebra.The patients had no catheter-related complications and successfully completed the course of chemotherapy.Ultrasonography found that the ratio of PORT outer diameter to PLSVC inner diameter was less than 0.45,which was in line with the recommendations of relevant literature and operating guidelines.The purpose of this article is to introduce two rare cases and review the relevant literature.CONCLUSION Correct assessment of PLSVC status and ultrasound-guided PORT placement generally does not affect breast cancer patients chemotherapy.
文摘The persistence of left superior vena cava (PLSVC) is the most common congenital anomaly of the venous return system to the heart. Because of the increasing number of patients referred for cardiac resynchronization therapy (CRT) devices implantations, it is expected to encounter this venous anatomic variation. Left ventricular lead placement at an appropriate site is an integral and technically challenging part of successful CRT. In case of cardiac abnormalities could be difficult to achieve an optimal cardiac rhythm management devices implantation. Previous reports in patients with PLSVC highlighted the challenges to achieve an optimal cardiac rhythm device implantation. Recently, a new quadripolar active fixation left ventricular lead is available for CRT device implantation. Hereby we report a case of a device upgrading from dual-chamber pacemaker to CRT with defibrillator backup using the active fixation left ventricular quadripolar lead in a patient with PLSVC and right superior vena cava atresia.
文摘<div style="text-align:justify;"> A persistent left superior vena cava (PLSVC) is a rare malformation which affects approximately 0.3<span>% </span><span>-</span><span> </span><span>0.5% of the population and it is presented along with a right-sided superior vena cava in 82.2% of the cases reported</span><span minion="" pro="" capt","serif";color:#943634;"="" style=""> </span><span minion="" pro="" capt","serif";color:#943634;background:yellow;"=""></span><span>[<a href="#ref1">1</a>]</span><span color:#943634;background:yellow;"=""></span><span minion="" pro="" capt","serif";color:#943634;background:yellow;"=""></span><span>.</span><span "=""><span> Clinicians diagnose it incidentally by difficulties with pacemaker implantation, central venous catheterization or screening for another etiologies when it is not accompanied by other anomalies it is typically asymptomatic. W. Schummer </span><i><span>et al.</span></i><span> described the embryogenesis and the anatomic variations of persistent LSVC according to the positioning of a central venous catheter on the chest radiograph: type I, normal;type II, only PLSVC;type IIIa, right and left superior vena cava with connection;type IIIb, right and left superior vena cava without connection</span></span><span> </span><span>[<a href="#ref2">2</a>]</span><span>. </span><span "=""><span>In 92% of individuals with PLSVC, the PLSVC drains into a dilated coronary sinus (CS) and rest 8% drain directly into the left atrium. PLSVC is caused by a failure in the closure of the left anterior cardinal vein during embryogenic development</span></span><span minion="" pro="" capt","serif";color:#943634;"=""><span> </span><span style="background:yellow;"></span></span><span color:#943634;"=""><span>[<a href="#ref3">3</a>]</span><span style="background:yellow;"></span></span><span minion="" pro="" capt","serif";color:#943634;background:yellow;"=""></span><span>. </span><span>The coronary sinus (CS) is a vein that transmits venous blood to the right atrium though atrioventricular groove. The CS wall contains atrial myocardium. Thus, it</span><span>s size</span><span> extensively depend</span><span>s</span><span> on variability of blood flow and pressure. We present a variant PLSVC with unknown prevalence and a mild </span><span>platypnea-orthodeoxia</span><span> </span><span>syndrome</span><span> after recovery of COVID-19 related acute respiratory distress syndrome (ARDS).</span> </div> <a href="#ref2"></a>
文摘Persistent left superior vena cava, usually an incidental finding, is the most common thoracic vein anatomical variation draining into the coronary sinus. Central venous catheter procedures may be complicated secondary to the presence of a persistent left superior vena cava, leading to life-threatening complications such as arrhythmias, cardiogenic shock, and cardiac arrest. We present a case of persistent superior vena cava diagnosed on transthoracic echocardiogram(TTE) in a patient with congestive heart failure. A dilated coronary sinus was identified on TTE, followed by injection of agitated saline into the left antecubital vein resulting in filling of the coronary sinus prior to the right atrium-an indication of persistent left superior vena-cava. This also was confirmed on cardiac computed tomography. Such a diagnosis is critical in patients who may undergo central venous catheter procedures such as our patient's potential requirement for an implantable cardiovertor defibrillator due to severe global left ventricular systolic dysfunction. The presence of a persistent left superior vena cava should always be suspected when the guidewire takes a left-sided downward course towards the rightatrium at the level of the coronary sinus. Therefore, special attention should be paid to the imaging work-up prior to central venous catheter procedures.
文摘Transjugular intrahepatic portosystemic shunt (TIPSS) is considered a valid therapeutic option for the treatment of portal hypertension and its complications.The guidelines for this procedure have already been established on the basis of the normal vascular anatomy and of various technical radiological aspects.In some few rare cases,diagnosis of a congenital vascular anomaly can be made accidentally by interventional radiologists,making the procedure of the TIPSS placement extremely difficult or in some cases technically impossible.This report describes a rare vascular malformation characterized by the absence of the right superior vena cava and persistence of the left superior vena cava in a patient with a diagnosis of advanced liver cirrhosis who needed a TIPSS placement in order to control refractory ascites.
文摘【目的】探讨染色体微阵列分析技术(CMA)在全基因组水平分析持续性左上腔静脉(PLSVC)胎儿遗传性病因的临床应用价值。【方法】2014年1月至2016年12月在中山大学附属第一医院行胎儿系统超声筛查提示持续性左上腔静脉且在我院产前诊断中心接受常规染色体核型分析和CMA检测的81例胎儿纳入研究,比较持续性左上腔静脉胎儿核型分析和CMA检测染色体异常的检出率差异。根据是否合并其他超声异常,分为单纯组及合并异常组,比较单纯组与合并异常组染色体异常检出率差异。【结果】核型分析的异常率为18.5%(15/81),CMA的异常检出率为23.5%(19/81);两种检测方法染色体异常的检出率比较,差异无统计学意义(P=0.44)。CMA在核型正常的持续性左上腔静脉胎儿中,额外检出6.1%(4/66)具有临床意义的染色体微缺失或微重复,且均合并其他异常。单纯组12例(14.8%,12/81),合并异常组69例(85.2%,69/81)。两组间染色体异常的检出率差异无统计学意义(26.1%,18/69 vs. 8.3%,1/12,P=0.277)。合并异常组中房室间隔缺损、颜面部异常,以及多发超声软指标异常在染色体异常胎儿中的检出率显著高于染色体正常胎儿(P=0.030,P=0.012,P=0.014)。【结论】在持续性左上腔静脉胎儿中,特别是合并其他超声异常时,染色体微阵列分析可检测出传统核型分析无法检出的染色体微缺失/微重复,对产前诊断及遗传学咨询具有重要价值。