275例宫内产前诊断的病因及结果分析

目的 总结了11年间采用羊水或脐血针对不同病因进行不同技术的宫内产前诊断并对病因进行结果分析.方法对11年间275例病例分别进行胎儿细胞染色体核型分析;胎儿分子学基因诊断及胎儿其他生化检查.结果胎儿染色体异常11例,引产7例.胎儿SRY基因诊断男胎26例,1例基因诊断正常外,25例引产.肝豆变1例引产,病原体PCR阳性2例引产,亲子鉴定3例非婚内亲子.其他生化诊断开放性神经管畸形AchE AFP诊断异常7例,引产5例.可疑甲低胎儿TSH. rT3诊断2例,建议足跟血筛查追踪诊断.结论宫内产前诊断是减少出生缺陷儿及胎儿遗传基础诊断最为早期、可靠、准确的方法.     

胎儿水肿与人微小病毒B19感染关系的临床分析

目的了解胎儿水肿与人微小病毒B19感染的关系.方法对本次或既往妊娠中有水肿胎儿的29例母亲作Rh、ABO血型和相关抗体,以及弓形体、巨细胞病毒、柯萨奇病毒、人微小病毒B19抗体检测.其中,4例孕妇作羊水穿刺,1例作胎心彩超,1对夫妇作血红蛋白基因等测定.结果 29例中,B19病毒感染者17例(58.6%),合并胎儿染色体异常、Rh抗D抗体阳性各1例,夫妇均为α和β地中海贫血基因双杂合子1例.5例孕期B19病毒抗体阳性中2例作了中期引产,1例在4w后胎死宫内,1例分娩正常儿,1例失访.结论由孕妇B19病毒感染引起胎儿非免疫水肿者并不少见,若母体感染后不能正常产生保护性抗体,则极易发生不良妊娠结局.     

Potter综合征一例报告及文献复习

目的探讨Potter综合征的诊断方法及病因。方法对一例孕21周发现羊水过少的孕妇采用羊膜腔灌注法补充羊水进行B超产前诊断,引产前抽脐血查胎儿染色体,引产后进行胎儿尸体病理检查。结果经三次羊膜腔灌注后,孕妇的羊水量达到正常,B超检查未发现胎儿的双肾及膀胱,孕妇于孕26周引产,引产前抽脐血查胎儿的染色体。结果是46,XX,引产后发现胎儿的外观具有特殊的Potter面容,病理检查发现胎儿的双肾、输尿管、膀胱及尿道均缺如,盆腔内无子宫及双附件。结论结合文献,Potter综合征在产前可用B超诊断,羊膜腔灌注法补充羊水有利于产前的B超诊断,Potter综合征的病因不明,进行胎儿染色体和尸体病理的检查有利于进一步查找病因。     

宫内胎儿脐静脉穿刺术探讨

在B超指引下用7号带芯穿刺针，穿刺宫内胎儿脐静脉，获取了纯胎血标本。共穿刺85例，分三个阶段进行，最初21例引产者，一次成功率是42．9%；第二阶段引产妇30例，一次成功率为83．4％；第三阶段34例为产前诊断者，一次成功率达至88．2%，产前诊断者全部进行染色体分析，未发生任何并发症。本研究提示该技术是产前诊断的好方法，值得推广应用，并对穿刺成功经验与安全性进行了计论。     

加强孕期保健，减少胎死宫内

对我院一年孕妇胎死宫内（ｆｅｔａｌｄｅａｔｈｉｎｕｔｅｒｕｓ）进行分析，胎死宫内的因素有胎儿畸形、病毒感染、胎盘功能不良、脐带因素、羊水因素、妊高征因素。孕产妇应加强孕期保健，坚持自我监护，定期产前检查，减少胎死宫内的发生。     

10例胎儿腹水宫内诊断与治疗

目的对先天发育异常腹水胎儿进行脐静脉穿刺和腹水穿刺等产前诊断及宫内干预，了解胎儿腹水的病因病理，探讨胎儿腹水可行的诊疗方案。方法对10例孕23～35w，B超诊断腹水胎儿进行产前诊断，内容包括：母血Rh、ABO血型、地中海贫血、TORCH及脐静脉穿刺查胎血：血红蛋白电泳、血常规、细胞形态、染色体、TORCH及胎血生化肝功、心酶、B2－MG等指标；胎儿腹水穿刺行常规、生化、细菌学等检查；在产前诊断排除胎儿染色体、TORCH、重型地中海贫血等重大疾病基础上对胎儿进行腹水穿刺、经母补氧、补液等改善胎盘功能等对症处理。结果10例腹水胎儿5例获得良好预后；1例胎儿经干预病程向好，但其家属要求放弃；3例胎儿腹水治疗效果不满意，其中2例同意终止妊娠，另1例坚持妊娠，于34w胎死。结论胎儿不明原因腹水应该进行产前诊断，适当对症处理、观察，合理评估，部分可获得良好预后；不需盲目终止妊娠。     

酶联免疫法检测孕妇及胎儿脐血TORCH在产前诊断应用

目的 通过应用酶联免疫法对13300例孕8－34周的孕妇血清进行风疹、巨细胞病毒及弓形虫IgM检测。经两次确疹为阳性者于孕24周后抽胎儿脐血及出生后留新生儿脐血检查对应病原体IgM以及追踪婴儿生长发育情况至1^ 岁。从而分析妊娠感染致畸因子其预后情况，提示13300例受检孕妇风疹IgM( )191例占1.44%，其中175例接受产前诊断；胎血风疹IgM( )11例占6.28%；孕妇巨细胞IgM( )306例占2.3%，其中262例接受产前诊断查出胎血细胞IgM（＋）5例占1.9%；孕妇弓形虫IgM（＋）146例占1.1%，其中12 3 例产前诊断查出胎血弓形虫IgM（＋）6例占4.9%。     

产前超声诊断胎儿肾脏异常与妊娠结局的临床分析

目的探讨产前超声诊断胎儿肾脏异常与妊娠结局的关系。方法对2004年3月∽2013年7月产前超声筛查提示胎儿肾脏异常,并且在复旦大学附属妇产科医院产前诊断中心进行多科会诊的305例孕妇进行产前及新生儿随访观察。结果305例孕妇中有37例失访;2例妊娠中期流产;3例妊娠晚期胎死宫内;64例引产终止妊娠,其中30例为优生引产;199例分娩并随访至新生儿期,其中新生儿死亡4例、需手术治疗20例,余175例转归良好。结论产前B超提示胎儿肾脏异常不是优生引产的指征,排除致死性多发畸形和胎儿染色体疾病后,仅约14.2%的胎儿预后不良。     

孕中期产前筛查产前诊断在减少出生缺陷中的作用

目的 探讨孕妇血清标记物甲胎蛋白(AFP)和游离绒毛膜促性腺激素(Free-β hCG)对孕中期妇女进行胎儿唐氏综合征(Dewn's syndrome,DS)产前筛查,进而对高风险孕妇进行羊水、B超的产前诊断在减少出生缺陷中的作用.方法 对孕14～20w妇女进行血清AFP及Free-β hCG检测,结合孕妇年龄、孕周及体重等因素,经过计算机软件测算风险率.对高风险孕妇进行一对一遗传咨询,在知情同意的情况下选择羊水染色体或B超检查以明确诊断并追踪随访至出生.结果 在10343例参筛孕妇中共筛出唐氏征高风险604例,占筛查总数的5.84%,其中384例进行羊水染色体检查,检出21三体6例,47,XXY 1 例;B超诊断胎儿发育异常4例;另外自然流产3例,胎死宫内2例.漏筛2例.结论 孕中期产前筛查产前诊断能减少缺陷儿的出生,方法有效可行.如能通过妇幼保健网推广筛查工作,扩大筛查覆盖范围,选择性地产前诊断,适时终止妊娠,才能真正有效地预防和减少出生缺陷.     

MCA-PSV的检测在孕早期巴氏水肿胎筛查中的应用

目的建立孕11-14^＋6周正常胎儿MCA-PSV值,指导通过监测高危胎儿的MCA-PSV早期发现巴氏水肿胎,避免侵入性诊断方法引起的并发症。方法通过B超核算胎儿孕周,以我院112例定期产检孕妇为研究对象,夫妻双方之一地贫检查正常,测量11-14^＋6周的正常胎儿的MCA-PSV,对地贫筛查高危的胎儿抽取羊水行产前诊断。结果我院112例定期产检的孕妇正常MCA-PSV值随孕周的增加而增加,羊水诊断为巴氏水肿胎的MCA-PSV明显高于同孕周正常值的1.5MOM。结论孕早期MCA-PSV对预测胎儿а-地中海贫血有一定的指导意义。     

Family experiences and attitudes about receiving the diagnosis of sex chromosome aneuploidy in a child

The most common sex chromosome aneuploidies (SCA) (47, XXY; 47, XYY; 47, XXX) frequently result in a milder phenotype than autosomal aneuploidies. Nevertheless, these conditions are highly variable and more symptomatic phenotypes may require significant clinical involvement, including specialty care. While historically most individuals with mild phenotypes remained undiagnosed during their lifetime, the increasing use of genetic testing in clinical care has increased the prenatal and postnatal diagnosis of SCAs. These genetic tests are frequently ordered by nongenetic providers who are also responsible for delivering the diagnosis. We surveyed parents of children (n = 308) to evaluate their experience of receiving a diagnosis and their support needs. The majority (73.3%) received the diagnosis from a nongenetic medical provider. Following a prenatal diagnosis parents reported experiencing depression, anxiety, and less optimism than those receiving a postnatal diagnosis. Few parents reported receiving materials explaining their child's condition that they found to be up‐to‐date, accurate, and unbiased. The frequently negative reported experiences of parents at time of diagnosis suggests more educational opportunities should be provided for nongenetic providers in order to become more informed about these conditions and communicate the diagnosis in a way parents experience as supportive.     

First trimester chorionic villi sampling and direct chromosome preparations

Chorionic villi sampling was performed on 52 patients prior to elective termination of their pregnancies. Villi were obtained in 42, and direct chromosome preparations were successful in 41 of them. The use of a mixture of 0.075 M potassium chloride and 1% sodium citrate in the ratio of 2:1 for hypotonic treatment and 40% acetic acid for cell dispersal yielded chromosomes with good morphology and G-bands.     

Prenatal diagnosis of perinatally lethal osteogenesis imperfecta

Prenatal diagnosis of osteogenesis imperfecta was achieved at 17 weeks of gestation using ultrasound through recognition of low echogenic properties of all the bones, abnormally shaped skull, bell-shaped rib cage, distally thinned ribs, short and deformed long bones, wide metaphyses, and thin diaphyses. Severely limited abnormal movements, abnormal positioning of the lower limbs also were typical of the condition. The recognition of the signs reported in this paper will allow the identification of the condition in utero in the second trimester.     

Assessment of reproductive risk and intentions by mothers of children with hemophilia

Thirty-five mothers of children with hemophilia were studied in order to ascertain the impact of hemophilia on family planning. Attitudes about reproductive risks and prenatal diagnosis were also examined. The most important factors influencing family planning in this group were parental fulfillment and availability of medical care and education for their affected child. Although 79% of mothers viewed their reproductive risk as moderate to very high, 57% indicated that their reproductive plans had not changed even with this knowledge. While 43% of the group would consider prenatal diagnosis, only 17% would terminate a pregnancy if the fetus was found to have hemophilia. Of those interested in prenatal diagnosis, the majority were interested in knowing if the fetus was affected but would not consider termination of the pregnancy. The majority of mothers in the group did not view having a child with hemophilia as an insurmountable burden on their lives. Therefore, the disease appeared to have little impact on family planning.     

五个脊肌萎缩症高风险胎儿的产前诊断

目的对5名生育过脊肌萎缩症(spinal muscular atrophy,SMA)患儿的妇女当前所怀胎儿进行产前诊断。方法超声监视下行羊膜腔穿刺术抽取羊水。离心后直接从沉渣中提取胎儿基因组DNA。采用短串联重复序列位点检测法排除母体基因组DNA污染。常规PCR扩增胎儿SMN基因第7外显子。PCR产物经DraⅠ酶切后,行琼脂糖凝胶电泳。通过位点特异性PCR扩增SMN1和SMN2的第7外显子。结果比较各胎儿与父母的16个短串联重复序列位点,未见羊水DNA受母体DNA污染迹象。常规PCR中,胎儿A、C、D的PCR产物(189bp)仅有部分可被DraⅠ切割,而胎儿B、E的PCR产物全部被DraⅠ切割。在位点特异性PCR中,胎儿A、C、D既有SMN1、也有SMN2的第7外显子扩增产物,而胎儿B、E只有SMN2的第7外显子扩增。结论胎儿A、C、D未见SMN1纯合性缺失,出生后患SMA的风险极小;胎儿B、E为SMN1纯合性缺失,出生后患SMA的风险极大。     

Thalassemia carrier screening and prenatal diagnosis among the British Columbia (Canada) population of Chinese descent

The goal of thalassemia screening is the identification, prior to the conception or birth of an affected child, of couples where both partners are thalassemia carriers. When both partners are identified as carriers for alpha- or beta-thalassemia, the risk of having a fetus who is homozygous or compound heterozygous for the abnormal gene is 25%. A study was performed to identify whether routine screening for thalassemia is indicated for the Chinese population in British Columbia (BC). In a population of 783 subjects, studied either prospectively or retrospectively, 5.0% were alpha-thalassemia carriers and 1.7% were beta-thalassemia carriers. In addition, a review of all BC cases of prenatal diagnosis for thalassemia over a 6-year period indicated that 26% of couples were identified as alpha-thalassemia carriers because of a second or third trimester diagnosis of fetal hydrops, and 17% of couples referred for beta-thalassemia already had an affected child. The experience with prenatal diagnosis shows that a significant proportion of at-risk couples are not identified prior to or early in a pregnancy. The prevalence of carriers for thalassemia would warrant a program of education and routine screening for this condition in the BC Asian population.     

应用QF-PCR技术对3075例常见染色体非整倍体快速产前诊断结果分析

目的对3075例产前诊断标本进行常见染色体非整倍体快速产前诊断的结果进行回顾性分析,探讨分析荧光定量PCR（QF-PCR）在快速产前诊断常见染色体非整倍体中的临床应用价值。方法采用QF-PCR技术对样本进行21、18、13、X及Y染色体非整倍体诊断,并与核型分析结果进行比较。结果 QF-PCR均正确检出38例21、18、13、X及Y染色体非整倍体,无假阳性结果;同时亦正确检出1例18-三体嵌合样本,但是漏诊了3例涉及21和性染色体异常的嵌合体。对于体外培养失败的样本,可将QF-PCR作为培养失败的样本一个补充。结论 QF-PCR技术能够在48～72h内快速、准确地诊断21、18、13、X及Y染色体非整倍体,此技术在快速产前诊断常见非整倍体方面具有重要临床实用价值,可弥补核型分析带来的不足,可以最大程度地缓解孕妇及其家人的焦虑。     

Prenatal detection of the cholesterol biosynthetic defect in the Smith-Lemli-Opitz syndrome by the analysis of amniotic fluid sterols

The Smith-Lemli-Opitz (SLO or RSH) syndrome is an autosomal recessive disorder characterized by a recognizable pattern of minor facial anomalies, congenital anomalies of many organs, failure to thrive, and mental retardation. Its cause is a defect in cholesterol biosynthesis characterized by abnormally low plasma cholestrol levels and concentrations of the cholestrol precursor 7-dehydrocholesterol (7DHC) elevated up to several thousand-fold above normal. We used capillary column gas-chromatography to quantify sterols in amniotic fluid, amniotic cells, plasma, placenta, and breast milk from a heterozygous mother who had previously given birth to an affected son and in cord blood and plasma from her affected newborn daughter. The cholesterol concentration in amniotic fluid at 16 weeks gestation was normal, but 7DHC was 11% of total cholesterol, similar to cultured fibroblasts from patients with SLO syndrome. At 38 weeks, a girl with phenotype consistent with the syndrome was born. Cholesterol concentrations were abnormally low in cord blood and in the baby's plasma at 12 weeks, while levels of 7DHC were grossly elevated, confirming the prenatal diagnosis. The mother's plasma cholesterol increased steadily during gestation but remained below the lower 95% limit reported for normal control women. We conclude that it is now possible to detect the SLO syndrome at 16 weeks gestation by analyzing amniotic fluid sterols. © Wiley-Liss, Inc.     

One hundred twin pregnancies in a prenatal diagnosis program

One hundred pairs of twins were encountered in 8,500 pregnancies having genetic amniocentesis. Only 5 of 27 (18.5%) pairs were recognized before the institution of routine ultrasonic examination, while 69 of 73 (94%) twin pairs were found after ultrasound use. Amniotic fluid was obtained from both sacs in 71 of the 73 (97%) identified twin gestations in which both twins were living at the time of amniocentesis.