超声在多胎妊娠筛查和选择性减胎中的临床应用

目的评估超声在多胎妊娠筛查和选择性减胎中的临床应用价值。 方法选择2011年7月至2015年4月在南京大学医学院附属鼓楼医院妇产科产前诊断中心接受超声筛查及减胎术的46例多胎妊娠孕妇,分析其超声检出的多胎类型、绒毛膜性、胎儿异常及减胎手术指征,追踪减胎术后的妊娠过程和临床结局。 结果46例多胎妊娠孕妇中,双胎妊娠28例（60.87%,28/46）,均是双绒毛膜双羊膜囊,5例妊娠无异常,孕妇要求减去其中一胎。21例因超声检出双胎之一发育异常减胎,2例因孕妇合并症减胎。三胎妊娠15例（32.61%,15/46）,其中三绒毛膜三羊膜囊8例,胎儿均无异常,孕妇要求减去其中一胎;双绒毛膜三羊膜囊5例,3例胎儿无异常,均减去其中单绒毛膜双羊膜囊两胎,2例因单绒毛膜双羊膜囊两胎之一异常,分别减去单绒毛膜双羊膜囊中两胎及一胎;双绒毛膜双羊膜囊2例,其中1例单绒毛膜单羊膜囊两胎之一异常,均减去单绒毛膜单羊膜囊两胎。四胎妊娠3例（6.52%,3/46）,胎儿发育均正常,均减去其中两胎,保留两胎。随访：双胎妊娠减胎术后保留28胎,1胎中孕超声检出左侧多囊性肾发育不良,2胎流产,其余25胎正常。三胎、四胎减胎术后保留胎儿均正常。 结论早期超声可以检出多胎妊娠的类型及异常胎儿,重视多胎妊娠的早期产前诊断并及时干预可以改善其妊娠结局。     

正常双绒毛膜双胎孕期估重差异性及其影响因素

目的 探讨正常双绒毛膜双胎孕期超声估重（EFW）差异率及其影响因素。方法 回顾性分析550名正常双绒毛膜双胎（1 100胎）孕妇的产前孕期超声生物测量指标,并根据胎儿双顶径、头围、腹围、股骨长计算双胎EFW差异率,分析其与孕周的关系,观察性别、受孕方式（试管组与非试管组）是否影响EFW差异率。结果 正常双绒毛膜双胎EFW差异率总体呈偏态分布,中位数为6.56%,四分位间距为8.92%,第95百分位数为20.81%,与孕周无明显相关。性别相同组与性别不同组、不同受孕方式组间双胎EFW差异率差异均无统计学意义（P均>0.05）。结论 产前超声对双绒毛膜双胎估重有重要参考价值,EFW差异率可作为双绒毛膜双胎孕期生长评估相对恒定的指标。     

产前超声及无创基因筛查诊断胎儿性染色体异常

目的 探讨超声及无创产前基因筛查（NIPT）诊断胎儿性染色体异常的价值。方法 回顾性分析8 792名高危孕妇,分析产前超声及NIPT对胎儿性染色体异常的检出率,观察性染色体异常胎儿妊娠结局。结果 共检出144胎（144/8 792,1.64%）性染色体异常胎儿。其中性染色体数目异常139胎（139/8 792,1.58%）,包括45,X（Turner综合征）32胎、45,X嵌合体22胎、47,XXY（Klinefelter综合征）44胎、47,XXY嵌合体3胎、47,XXX 23胎、47,XYY 11胎、其他数目异常3胎及45,X[15]/46,XX[40]男性性反转1胎;性染色体结构异常5胎（5/8 792,0.06%）。超声检出73胎（73/144,50.69%）异常。77胎接受NIPT筛查,其中75胎（75/77,97.40%）性染色体异常。32胎45,X胎儿中,31胎超声可见异常,其中28胎表现为颈部水囊瘤,后均引产;112胎其他类型性染色体异常胎儿中,42胎（42/112,37.50%）继续妊娠。结论 NIPT对检出性染色体异常具有重要价值;产前超声筛查发现颈部水囊瘤时,应高度警惕45,X。     

产前超声监测羊水量不均衡双胎妊娠的临床价值

目的 探讨产前超声监测羊水量不均衡双胎的临床价值.方法 分析270例双羊膜囊双胎中单绒毛膜双羊膜囊双胎(monochorionic-diamniotic twin,MCDA)与双绒毛膜双羊膜囊双胎(dichorionicdiamniotic twin,DCDA)羊水量不均衡的发生率,妊娠过程中羊水量变化趋势及与妊娠结局的关系.结果 共45例双胎间羊水量不均衡,MCDA组37例,其中24例为双胎输血综合征(twin-to-twin transfusion syndrome,TTTS);DCDA组8例,无TTTS发生.MCDA组羊水量不均衡的发生率明显高于DCDA组(P＜0.001).MCDA组中羊水量不均衡的非TTTS双胎,羊水量的差异随孕周增加呈减少趋势,且妊娠结局明显优于TTTS(P＜0.001).结论 MCDA组中羊水量不均衡双胎与TTTS间可能存在一个重叠的临界状态,动态监测羊水量的变化趋势,是产前诊断和判断预后的关键,也是临床干预的重要依据.     

超声评价双胎输血综合征"供血儿"的心功能改变

目的 探讨二维及彩色多普勒超声评价双胎输血综合征(TTTS)"供血儿"心功能的临床价值。方法 选择17例TTTS孕妇及19名正常单绒毛膜囊双羊膜囊双胎孕妇,测量脐动脉、脐静脉、静脉导管等血流频谱参数,计算胎儿心胸面积比值及心肌做功指数,重点分析"供血儿"的心功能改变。结果 TTTS"供血儿"中,7胎出现脐动脉舒张期血流缺失或反向,1胎发现心脏明显扩大并合并心包积液。"供血儿"静脉导管搏动指数明显高于正常胎儿。结论 TTTS"供血儿"已出现一定程度的心功能异常,动态监测心功能状况有助于判断TTTS严重程度,评价干预治疗的疗效。     

双胎之一脐血流S/D值增高对两胎儿结局的影响研究

目的 研究了双胎之一脐血流收缩末期峰值(S)/舒张末期峰值(D)值增高对两胎儿结局的影响。方法回顾性选择2017年3月至2020年3月在西北妇女儿童医院行产检并确定分娩的双胎之一胎儿S/D值≥3的孕妇41例设为异常组,另选择同期双胎胎儿S/D值均3的孕妇45例纳入正常组。每组根据双胎情况分为两个亚组,即单绒毛膜双羊膜囊双胎(MCDA)组及双绒毛膜双羊膜囊双胎(DCDA)组。比较异常组与正常组脐血流搏动指数(PI)、阻力指数(RI)及大脑中动脉S/D值;比较两组及亚组间围产期并发症发生率,包括胎儿窘迫、发育不均衡、脐带绕颈、早产等;两组及亚组间围产儿预后,包括胎儿宫内生长受限(FGR)、Apgar评分、呼吸窘迫综合征、围产儿预后不良等。结果异常组脐血流PI、RI及大脑中动脉S/D值均较正常组低(1. 02±0. 22 vs. 1. 12±0. 24、0. 63±0. 13 vs. 0. 69±0. 15、4. 72±0. 81 vs. 5. 02±0. 83),差异有统计学意义(P 0. 05)。异常组胎儿窘迫、胎死宫内、发育不均衡、早产、脐带绕颈发生率明显高于正常组,在异常组及正常组内,MCDA组围产期并发症发生率均较DCDA组高,而MCDA及DCDA在异常组的围产期并发症发生率较在正常组高,差异均有统计学意义(P 0. 05);在两组分娩孕周比较中,异常组分娩孕周36周的占51. 22%,明显高于正常组(P 0. 05),而足月产率0%,明显低于正常组4. 4%(P 0. 05)。异常组FGR、Apgar评分及围产儿预后明显高于正常组;异常组中,MCDA组的FGR、新生儿缺血缺氧性脑病、Apgar评分、呼吸窘迫综合征、围产儿预后不良发生率均明显高于DCDA组;正常组中,MCDA组FGR、Apgar评分、呼吸窘迫综合征、围产儿预后不良发生率均明显高于DCDA组; MCDA组的围产儿预后不良发生率在异常组明显高于在正常组,差异有统计学意义(P 0. 05)。结论 脐血流检测简便、快捷、无创,是一种良好的产前监护手段,有助于对双胎妊娠的产前筛查以及管理,临床对双胎之一S/D值异常,特别是MCDA双胎的胎儿,应及时采取干预措施,以降低围产儿不良预后的发生风险。     

早孕期超声法判断双胎绒毛膜性的临床研究

目的:探讨早孕期采用2次超声法判断双胎绒毛膜性的临床价值。方法:选取33例在我院产科检查及分娩的双胎妊娠孕妇的临床资料。孕5~10周(早孕早期)进行第1次超声检查,判断双胎绒毛膜囊、羊膜囊数目;孕11~13周(早孕晚期)进行第2次超声检查,并参考第1次超声结果判断双胎绒毛膜囊、羊膜囊数目。比较早孕早期单次超声法和早孕期2次超声法判断双胎绒毛膜性的准确率。结果:33例双胎妊娠孕妇分娩后经胎盘病理检查,证实双绒毛膜囊双羊膜囊双胎者为20例,单绒毛膜囊双羊膜囊双胎者为11例,单绒毛膜囊单羊膜囊双胎者为2例。早孕早期单次超声法判断双胎绒毛膜性的准确率为78.78%(26/33),早孕期2次超声法判断双胎绒毛膜性准确率为93.93%(31/33)(P<0.05)。结论:早孕期2次超声法可弥补早孕早期单次超声法判断双胎绒毛膜性的不足,且具有更高的判断准确率。     

早孕期超声筛查多胎胎儿巨膀胱的临床价值CSCD

目的探讨早孕期超声筛查多胎胎儿巨膀胱的图像特征及临床价值。方法对2011年1月至2016年4月在南京医科大学鼓楼临床医学院产前诊断中心受检的2159例多胎妊娠孕妇产前检查资料进行回顾性分析,于妊娠11~13+6周行早孕期超声筛查,并于胎儿正中矢状面测量膀胱长径,彩色多普勒显示双脐动脉,对检出的多胎巨膀胱胎儿,追踪妊娠过程及临床结局。结果早孕期超声筛查检出多胎之一巨膀胱胎儿6例,膀胱长径均大于7 mm,彩色多普勒均显示双脐动脉,其中双胎妊娠5例(为双胎之一胎儿巨膀胱),三胎妊娠1例(为三胎之一胎儿巨膀胱)。2例自然妊娠双胎之一巨膀胱胎儿均经引产终止妊娠,术后大体病理显示巨膀胱胎儿为梅干腹综合征。4例体外受精-胚胎移植多胎胎儿中,2例经早孕期选择性减胎术减去巨膀胱胎儿,其中1个正常胎儿足月活产,另一胎儿于孕32周超声显示双肾回声增强,行基因芯片检查,发现17 q12存在约1.5 Mb缺失;1例双胎妊娠孕妇未选择产前干预,其中巨膀胱胎儿死产,另一胎儿存活;1例双绒毛膜双羊膜囊三胎中单绒毛膜单羊膜囊双胎于孕13+2周自然胎死宫内,另一正常胎儿足月分娩。结论早孕期超声筛查可有效地检出及诊断多胎胎儿巨膀胱,重视多胎妊娠胎儿巨膀胱的早期产前诊断并及时干预,有助于产科处理并改善妊娠结局。     

早孕期超声筛查多胎胎儿巨膀胱的临床价值

目的探讨早孕期超声筛查多胎胎儿巨膀胱的图像特征及临床价值。方法对2011年1月至2016年4月在南京医科大学鼓楼临床医学院产前诊断中心受检的2159例多胎妊娠孕妇产前检查资料进行回顾性分析,于妊娠11~13+6周行早孕期超声筛查,并于胎儿正中矢状面测量膀胱长径,彩色多普勒显示双脐动脉,对检出的多胎巨膀胱胎儿,追踪妊娠过程及临床结局。结果早孕期超声筛查检出多胎之一巨膀胱胎儿6例,膀胱长径均大于7 mm,彩色多普勒均显示双脐动脉,其中双胎妊娠5例(为双胎之一胎儿巨膀胱),三胎妊娠1例(为三胎之一胎儿巨膀胱)。2例自然妊娠双胎之一巨膀胱胎儿均经引产终止妊娠,术后大体病理显示巨膀胱胎儿为梅干腹综合征。4例体外受精-胚胎移植多胎胎儿中,2例经早孕期选择性减胎术减去巨膀胱胎儿,其中1个正常胎儿足月活产,另一胎儿于孕32周超声显示双肾回声增强,行基因芯片检查,发现17 q12存在约1.5 Mb缺失;1例双胎妊娠孕妇未选择产前干预,其中巨膀胱胎儿死产,另一胎儿存活;1例双绒毛膜双羊膜囊三胎中单绒毛膜单羊膜囊双胎于孕13+2周自然胎死宫内,另一正常胎儿足月分娩。结论早孕期超声筛查可有效地检出及诊断多胎胎儿巨膀胱,重视多胎妊娠胎儿巨膀胱的早期产前诊断并及时干预,有助于产科处理并改善妊娠结局。     

早、中孕联合超声筛查诊断胎儿异常

目的 评估早、中孕联合超声筛查诊断胎儿异常的临床价值。方法 对2844名孕11~13⁺⁶周的孕妇(共3135胎)行孕早期超声筛查,测量颈项透明层厚度(NT),重点观察胎儿颅脑横切面,多切面观察胎儿主要脏器及形态结构。对继续妊娠的2865胎,在孕18~24周行孕中期胎儿结构筛查;孕32周超声监测胎儿生长发育。对所有新生儿进行随访。结果 孕早期超声筛查在3135胎中检出153胎(153/3135,4.88%)异常,包括NT增厚20胎、胎儿水肿25胎、胎死宫内75胎、露脑畸形9胎、脐疝2胎、巨膀胱2胎、肢体发育异常2胎、多发畸形5胎、联体双胎1胎、单脐动脉12胎。孕中期超声筛查在2865胎中检出66胎(66/2865,2.30%)异常,包括胎儿水肿6胎、中枢神经系统异常13胎、颜面部畸形3胎、心脏异常11胎、膈疝1胎、脐疝2胎、肢体异常1胎、泌尿系统异常9胎、多发畸形1胎、胎儿生长受限5胎、脐带异常14胎。结论 孕早期超声筛查能早期检出部分严重、早发的胎儿异常,但不能替代孕中期超声筛查。     

Spontaneous septostomy in a monochorionic‐diamniotic twin gestation

Monochorionic twin gestations are associated with a greater incidence of neonatal morbidity and mortality when compared with their dichorionic counterparts. In turn, monochorionic‐monoamniotic (MCMA) gestations carry greater risks compared with monochorionic‐diamniotic (MCDA) gestations. While the true incidence of spontaneous septostomy of the dividing membranes (SSDM) in MCDA twins is unknown, SSDM has been demonstrated to be associated with increased morbidity and mortality, due to functional transition from a MCDA gestation to a MCMA gestation. We report a case of SSDM in a mid‐trimester MCDA gestation, review the literature, and describe how to identify and manage this complication.     

超声监测单绒毛膜囊双羊膜囊双胎脐带胎盘附着预测胎儿预后的价值

目的探讨产前超声监测单绒毛膜囊双羊膜囊(MCDA)双胎脐带胎盘附着预测妊娠结局的临床应用价值。方法回顾性分析127名MCDA双胎妊娠孕妇的产前超声检查结果和产后临床资料,比较两胎儿脐带胎盘附着一致组(59名)和不一致组(68名)的复杂性双胎发生率。结果脐带胎盘附着不一致组复杂性双胎的发生率为51.47%(35/68),脐带胎盘附着一致组为23.73%(14/59),差异有统计学意义(P<0.05);其中双胎之一脐带帆状附着的复杂性双胎发生率为59.09%(13/22),双胎之一脐带边缘附着的复杂性双胎发生率为47.83%(22/46),差异无统计学意义(P=0.444);双胎之一帆状附着中双胎输血综合征(TTTS)的发生率为40.91%(9/22),双胎之一边缘附着中TTTS的发生率为13.04%(6/46),差异有统计学意义(P<0.05)。结论产前超声监测MCDA双胎脐带胎盘附着能预测胎儿预后。     

Prenatal Diagnosis of Spontaneous Septostomy in Dichorionic Diamniotic Twins and Review of the Literature

Objective. We present 2 cases of spontaneous septostomy in dichorionic diamniotic twins and review the literature regarding the incidence, etiology, and complications of this condition. Methods. The following key words were used in the literature search: “rupture dividing membrane twin,” “disruption dividing membrane twin,” “pseudomonoamniotic twin,” “spontaneous septostomy twin,” “interfetal membrane disruption,” “intertwin membrane rupture,” and “intertwin membrane disruption.” Results. We present 2 cases in which an intertwin membrane defect was found prenatally in dichorionic diamniotic twins. In both cases, a portion of one twin's body was found traversing the spontaneous septostomy and in the sac of its cotwin. Umbilical cord Doppler studies showed no abnormalities in either case as the cord crossed the membrane disruption. In both cases, the fetuses had no notable sequelae from the ruptured intertwin membrane. The literature review revealed no cases of spontaneous septostomy in dichorionic diamniotic twins but 15 cases in monochorionic diamniotic twins. Possible etiologies include chorioamnionitis, trauma or physical rupture by the fetuses, developmental disturbances represented by amniotic plica, and polyhydramnios. In cases of monozygotic twins, a vascular etiology could explain this rare defect with formation of anastomoses of the outer embryonic vasculature. Complications of the spontaneous septostomy cases identified in the literature included cord entanglement (8 cases), preterm delivery (9 cases), and death (8 cases), although our 2 cases had minimal complications. Conclusions. Spontaneous septostomy in dichorionic diamniotic twins has not previously been reported.     

Number of yolk sacs does not predict amnionicity in early first-trimester monochorionic multiple gestations.

OBJECTIVE: To determine the relationship between amnionicity and number of yolk sacs before 11 weeks of gestation. METHODS: Twenty-two cases of monochorionic multiple pregnancy were scanned before 11 weeks of gestation. There were 21 sets of twins and one of triplets. Amnionicity was determined by visualization of a dividing amniotic membrane between the gestational sacs. The number of yolk sacs was recorded and compared with the presence or absence of a dividing membrane for all fetuses. RESULTS: In 17/20 (85%) cases of monochorionic diamniotic twins, two yolk sacs were seen. In 3/20 (15%) cases of monochorionic diamniotic twins, a single yolk sac was seen. In the one case of monochorionic diamniotic triplets, two yolk sacs were visualized. In one case of monoamniotic twins, a single yolk sac was observed. CONCLUSIONS: In monochorionic pregnancies, the presence of two yolk sacs predicts diamnionicity. However, the use of the number of yolk sacs as a predictor of amnionicity may not be accurate in a small proportion of patients. The diagnosis of monoamnionicity can be made only following a careful search for a dividing amniotic membrane.     

Discordant intrauterine transfusion in dichorionic twin pregnancy with Rh isoimmunization

Discordant intrauterine transfusion (IUT) in twin pregnancy with Rh isoimmunization is uncommon and complicated. We report a gravida 3, para 2 woman with a dichorionic diamniotic (DCDA) twin pregnancy and two fetuses received discordant transfusions. Middle cerebral artery peak systolic velocity (MCA-PSV) was used to evaluate the anemic degree in each foetus. IUT was performed 3 times in twin A and 4 times in twin B to reverse foetal anaemia. Transfusions were distinct due to the different tolerance to IUT, and the procedure could be continued in one foetus even if the other one underwent complications. Two male babies were born at 36 weeks of gestation and were given different treatments after birth. Twins were subsequently healthy after 2 years of follow up.The discordant IUT was due to the different tolerance to transfusion in the DCDA twins. Zygosity is important for the management and treatment of haemolytic anaemia in twin pregnancies.     

Cord entanglement of monochorionic diamniotic twins following spontaneous antepartum septostomy sonographically simulating a true knot of the umbilical cord.

Spontaneous antepartum septostomy occurring in monochorionic diamniotic twins is extremely rare. We present a case in which prenatal sonography at 26 weeks' gestation depicted a monochorionic diamniotic twin gestation with concordant fetal growth and findings suggestive of a true knot of the umbilical cord. At Cesarean delivery at 34 weeks' gestation, spontaneous antepartum septostomy with entanglement of the two separate umbilical cords was noted. This case suggests that the differential diagnosis of findings considered consistent with a true knot of the umbilical cord in monochorionic diamniotic twin gestations, should include spontaneous antepartum septostomy and umbilical cord entanglement.     

Screening of fetal chromosomal aneuploidy diseases using noninvasive prenatal testing in twin pregnancies

Objectives: This study was aimed to report the clinical characteristics of fetal chromosomal aneuploidy diseases using noninvasive prenatal testing (NIPT) in twin pregnancies and analyze the results in terms of chorionicity, conception, and fetal fraction.

Methods: A total of 1160 women with twin pregnancies were recruited from 1 October 2015, to 1 August 2017. Next-generation sequencing technology was used to detect fetal aneuploidies, such as trisomy 21, trisomy 18, trisomy 13 and trisomy X.

Results: Aneuploidy was detected using NIPT in 26 fetuses, among which 18 fetal aneuploidies occurred in only one fetus of the twins. The rate of aneuploidy was 1.3% for dichorionic diamniotic twins and 0.5% for monochorionic diamniotic twins, respectively. The rate of aneuploidy was 1.2% for spontaneous pregnancy group and 1.1% for assisted reproductive technologies group.

Conclusion: In this study, detection of trisomy 21, trisomy 18, trisomy 13, and X abnormality in twin pregnancies was confirmed to be accurate. The aneuploidies mostly occurred in only one fetus of the twins, and trisomy 21 was the most common type. The prenatal diagnostic standard for NIPT in singleton pregnancies could perform well in twin pregnancies, which means NIPT can be popularized as routine prenatal screening in twin pregnancies.     

Using the number of yolk sacs to determine amnionicity in early first trimester monochorionic twins.

The purpose of this study was to evaluate the relationship between the number of yolk sacs and amnionicity in monochorionic twin pregnancies scanned early in the first trimester. We retrospectively reviewed images of all monochorionic twins scanned between 6 and 9.5 weeks' gestation and with pathologic or sonographic confirmation of chorionicity-amnionicity. Each film was reviewed for the number of yolk sacs present, as well as for the gestational age at which the amniotic membrane was first visualized. Twenty monochorionic-diamniotic pregnancies and two monochorionic-monoamniotic pregnancies met the criteria for inclusion in the study. In diamniotic pregnancies scanned at less than 8 weeks' gestation, only the yolk sacs were identified; none of the dividing amniotic membranes were detected. Two yolk sacs were identified in all but one case. In this case, although one yolk sac was seen at 6 weeks, follow-up scanning at 8 weeks revealed two yolk sacs. In each of the monochorionic-monoamniotic twin pregnancies, one yolk sac was seen at 9 weeks and a single amnion encircled both embryos. We conclude that the sonographic identification of two yolk scas in monochorionic twins enables us to make the diagnosis of diamniotic twins early in the first trimester, before the amniotic membrane can be imaged. The presence of one yolk sac should prompt a follow-up ultrasonogram to assign amnionicity definitively.