2 171例地中海贫血产前基因诊断回顾性分析

目的：对广东省妇女儿童医院产前诊断中心1 506例α地中海贫血和665例β地中海贫血产前基因诊断进行回顾性分析。方法：对α地中海贫血产前基因诊断采取裂隙聚合酶链反应（gap-PCR）以及PCR结合反向点杂交（RDB）方法,β地中海贫血产前基因诊断采取PCR结合RDB方法,若夫妇一方携带少见突变则加用DNA测序方法。结果：1 506例α地中海贫血产前基因诊断病例中共检测出262例水肿胎,72例血红蛋白H病。665例β地中海贫血产前基因诊断病例中共检测出174例重型β地中海贫血。结论：地中海贫血产前基因诊断有效减少了水肿胎和重型β地贫患儿的出生,对于优生优育、减少围生期并发症具有重要意义。     

应用扩增不应突变系统技术对β-地中海贫血行快速产前基因诊断

β地中海贫血是我国南方常见的常染色体隐性遗传性疾病。目前常用聚合酶链反应(ＰＣＲ)检测基因已知点突变的方法进行产前诊断。而对β地中海贫血进行基因诊断最有效的方法主要有反向点杂交法[1]和扩增不应突变系统(ａｍｐｌｉｆｉｃａｔｉｏｎｒｅｆｒａｃｔｏｒｙｍｕｔａｔｉｏｎｓｙｓｔｅｍ,ＡＲＭＳ)技术[2]。我们应用ＡＲＭＳ技术完成了1例有β地中海贫血的快速产前基因诊断,现报道如下。一、资料与方法1.资料:患者因第1胎生育β地中海贫血患儿,现又妊娠第2胎而来我室遗传咨询门诊就诊,要求产前诊断。第1胎曾在湖南医科大学附属湘雅…     

深圳市孕妇地中海贫血产前筛查及产前诊断

目的：调查深圳市孕妇地中海贫血发病率、基因突变类型，对高风险胎儿进行产前诊断。方法：1998年1月至2002年12月采用二步法对产前检查的4136例孕妇进行地中海贫血筛查。结果：检出地中海贫血阳性病例297例，发病率7．18％，其中。地中海贫血阳性病例172例，发病率4．16％；β地中海贫血阳性病例125例，发病率3．02％。229例被确定了基因型。对19对夫妇均为地中海贫血携带者胎儿进行产前基因诊断，确定正常胎儿3例，α1地中海贫血杂合子4例，β地中海贫血杂合子8例，Bart‘S水肿胎儿2例，β地中海贫血双重杂合子2例。结论：通过产前筛查地中海贫血，确诊重症患儿及时终止妊娠，可有效地避免重症患儿的出生。     

应用突变引物延伸扩增技术快速前产诊断β地中海贫血基？…

目的 探讨综合应用突变引物延伸扩增（ＭＯＥＡ）及巢式聚合酶链反应（ＰＣＲ）技术进行β地中海贫血产前诊断的可行性。方法 行钐一对外侧引的扩增１．５Ｋｂβ株收 用ＭＯＥＡ技术检测β地中海贫血点突变。结果 完成了６例β地中海贫血高危胎儿的产前基因诊断,其中双重杂合子１例,杂合子３例,正常胎儿２例;经分娩或流产后基因分析验证,结果与产前诊断完全一致。结论ＭＯＥＡ技术适合于已知点突变的基因诊断和产前诊断,具     

应用突变引物延伸扩增技术快速产前诊断β地中海贫血基因突变

目的 探讨综合应用突变引物延伸扩增(MOEA)及巢式聚合酶链反应(PCR)技术进行β地中海贫血产前诊断的可行性.方法 先用一对外侧引物扩增1.5 Kb β珠蛋白基因片段,再用MOEA技术检测β地中海贫血点突变.结果 完成了6例β地中海贫血高危胎儿的产前基因诊断,其中双重杂合子1例,杂合子3例,正常胎儿2例;经分娩或流产后基因分析验证,结果与产前诊断完全一致.结论 MOEA技术适合于已知点突变的基因诊断和产前诊断,具有快速、简便、安全、准确等优点,便于推广应用.     

α-地中海贫血的产前基因诊断

目的研究聚合酶链反应（ＰＣＲ）技术在α地中海贫血产前诊断中的价值。方法应用ＰＣＲ技术,对１１例父母双方均为α珠蛋白基因缺失杂合子的胎儿（１例双胎）行羊水产前基因诊断,扩增产物中出现２２４ｂｐＤＮＡ片段为正常α类珠蛋白基因序列,出现６３０ｂｐＤＮＡ片段的扩增带代表有α类珠蛋白基因缺失,若同时出现２２４ｂｐ和６３０ｂｐ两个ＤＮＡ片段的扩增带,则表示为杂合子。结果３例胎儿表现为基因正常序列（αα／αα）,４例胎儿为杂合子（－－／αα）（其中１例为双胎之一）,４例胎儿为纯合子（－－／－－）（其中１例为双胎之一）。Ｂ超检查疑有胎儿水肿的３例胎儿,经基因诊断仅有２例为纯合子,而另外１例为杂合子。引产的４例胎儿为纯合子α－地中海贫血,其中有１例全身水肿,２例为典型的Ｂａｒｔ′ｓ水肿儿,１例四肢短小、腹疝形成。结论ＰＣＲ技术用于α－地中海贫血的产前诊断,具有快速、准确的特点     

应用PCR-RDB技术对β地中海贫血进行快速产前基因诊断

目的　为了降低 β地中海贫血重症患儿的出生率 ,达到优生的目的。　方法　对 5 2 7对孕妇及其配偶进行血液学筛查 ,用 PCR- RDB法对夫妇双方均为 β地中海贫血携带者的孕期夫妇进行产前基因诊断 ,并取脐血验证结果。　结果　共筛出 β地中海贫血阳性患者 2 8例 ,轻型 β地中海贫血阳性率为 2 .6 6 %。男女阳性率为 1∶ 1.15 ,4例产前基因诊断中 ,确定正常胎儿 1例 ,重症胎儿 3例(纯合子 1例 ,双重杂合子 2例 ) ,重型 β地中海贫血胎儿于诊断后两周内终止妊娠。　结论　 PCR-RDB技术可有效减少 β地中海贫血重症患儿的出生 ,具有重要的优生学意义。     

α-地中海贫血的产前基因诊断

目的应用PCR技术,对9例父母双方均为γ珠旦白基因缺失杂合子的胎儿进行羊水产前基因诊断.方法聚合酶链反应(PCR)技术.结果9例中3例胎儿表现为基因正常序列(aa/aa),4例胎儿纯合子(--/--),2例胎儿为杂合予(--/aa).B超检查疑有胎儿水肿的3例胎儿,经基因诊断仅有1例是纯合子,1例是杂合子和另1例是正常.结论PCR在α地中海贫血胎儿产前诊断决定胎儿是否存留的最可靠的方法,宣传教育和人群筛查十分必要,尽早发现杂合子夫妻,实施有效的产前诊断是降低水肿胎出生的根本所在.     

孕早期胎儿地中海贫血基因型与血液学表型和产前诊断适应证的遗传研究

目的:探讨孕早期侵入性产前诊断分析地中海贫血夫妇的基因型分布与血液临床表型和产前高危因素之间的遗传关联,以更好地进行地中海贫血高风险夫妇孕早期产前诊断和遗传咨询。方法:通过对606例高风险夫妇行腹部绒毛活检术(TA-CVS)进行基因型结果分析,并依据不同的基因组合对其血液学指标血红蛋白(Hb)、平均红细胞容积(MCV)、平均红细胞血红蛋白(MCH)和血红蛋白A2(HbA2)进行比较,分析产前诊断适应证的高危风险因素与胎儿基因型临床表型结果的关系。结果:①606例绒毛标本中,地中海贫血的胎儿标本463例,其中α地中海贫血携带者共检测出基因型16种,以常见基因型--SEA/αα(东南亚缺失)为主(26.3%)。②胎儿α地中海贫血基因的Bart's和HbH病临床表型其父母血液参数呈现特点为中度且小细胞低色素贫血,且Bart's胎儿其父母血液学表型MCV、MCH、Hb水平均较HbH病低(P0.05);β双重杂合子或纯合子的血液学特点为小细胞低色素性贫血,α复合β地中海贫血和β地中海贫血杂合子血液学参数特点为轻度降低或正常,HbA2值升高或正常,且β双重杂合子或纯合子父母双方的MCV、MCH、Hb水平均显著低于相应的α复合β地中海贫血和β地中海贫血杂合子(P0.05)。③产前诊断适应证中夫妇双方高风险的高危因素中Bart's和HbH所占例数高于高龄超声异常、不良孕产史、染色体异常和重型Bart's生育史产前诊断适应证。结论:广西地区胎儿地中海贫血中以α地中海贫血东南亚缺失型发病率为主;各种胎儿基因型结果其父母血液学参数变异性较大,夫妇双方地中海贫血高风险的高危因素致地中海贫血患儿的风险系数较高,临床上应结合患者的血液学表型和产前诊断的危险因素进行判断,以避免漏诊。     

运用胚外体腔液产前诊断α地中海贫血的临床研究

目的探讨胚外体腔穿刺液应用于α地中海贫血产前诊断的安全性及准确性。方法对40例妊娠6～10周、要求人工流产的单胎妊娠孕妇在终止妊娠前行胚外体腔穿刺术抽吸胚外体腔液，吸官术后取绒毛，采用聚合酶链反应(PCR)检测胚外体腔细胞及绒毛的α地中海贫血基因，比较两种标本诊断的符合率。结果36例胚外体腔细胞成功地扩增α地中海贫血基因，结果均与绒毛检测结果相符。结论通过胚外体腔穿刺术取胚外体腔细胞行PCR检测可用于α地中海贫血的早期产前诊断，具有可行性。     

体外受精-胚胎移植中多胎减胎后双胎妊娠结局的分析

目的:探讨IVF-ET中多胎妊娠减胎术对双胎妊娠结局的影响。方法:回顾性地分析IVF-ET治疗后直接双胎妊娠124例(A组)和IVF多胎妊娠减为双胎妊娠43例(B组),比较二组孕期流产率、早产率、胎儿出生体重、胎儿畸形率、新生儿死亡率、胎盘粘连和产后出血等。结果:早期流产率A组8.1%,B组25.6%;晚期流产率A组16.9%,B组9.3%;总流产率A组25%,B组34.9%;A、B组间流产率有显著差异(P<0.01)。A、B组平均孕周(36.6±2.2周vs36.0±2.9周)、第一胎胎儿出生体重(2678.0±510.3gvs2542.5±454.8g)和第二胎胎儿出生体重(2393.4±496.8gvs2297.5±501.0g)间无统计学差异;A、B组间在母体并发症发生率、胎儿畸形率、新生儿死亡率之间也无统计学差异(P>0.05)。结论:IVF-ET中多胎减为双胎妊娠与IVF-ET中直接双胎妊娠相比,早期流产率明显增加。     

A Novel Approach to Management of Angular Pregnancies: A Case Series

Cornual, interstitial, and angular pregnancies are terms that are often used interchangeably in both the literature and clinical setting to describe various ectopic pregnancies. The diagnosis of these pregnancies can be difficult, and fear of disrupting an intrauterine pregnancy can cause hesitation during evaluation and management. In our 2 cases, a combination of transvaginal and 3-dimensional ultrasound images provided assistance in the accurate diagnosis of angular ectopic pregnancies. Traditional management of these pregnancies includes a wedge resection for pregnancy resolution. In this set of 2 cases, we describe a unique surgical approach to resolve these pregnancies using operative hysteroscopy.     

体外受精-胚胎移植术后妊娠结局回顾性分析

目的:探讨体外受精-胚胎移植术后的妊娠结局。方法:回顾性分析在本生殖医学中心行体外受精-胚胎移植术、单精子卵胞浆内注射术、冻融胚胎移植术后306个妊娠周期的结局及围产儿情况,并与自然受孕妇女进行比较。结果:在306个妊娠周期中,生化妊娠11个周期,临床妊娠295个周期,流产53个周期,宫外孕10个周期,宫内外同时妊娠5个周期。共有168例分娩,与同期在我院自然妊娠分娩的6 203例相比,多胎率(34.52％vs 0.77％)、早产率(33.33％vs 4.56％)有显著性差异(P<0.05)。助孕出生的231例新生儿与自然分娩的6 186比,低体重儿率(37.23％vs 3.30％)、新生儿死亡率(0.87％vs 0.21％)、新生儿畸形率(2.16％vs 4.24％)、死胎率(1.70％vs 0.27％)均有有显著性差异(P<0.05)。另两组在前置胎盘和产后出血方面,差异也有显著性。结论:辅助生育其并发症显著高于自然妊娠。     

Pregnancies after radical vaginal trachelectomy for early-stage cervical cancer

Objective: The purpose of this study was to evaluate the role of fertility-preserving surgery in the treatment of early-stage cervical cancer. Study Design: We retrospectively reviewed our first 30 patients treated by laparoscopic pelvic lymphadenectomy, followed by radical vaginal trachelectomy, from October 1991 to April 1998. Results: The median age of the patients was 32 years (range 22-42 years); 15 were nulligravid and 19 nulliparous. Twenty cancers were at stage IB, 1 was at stage IA₁ , 7 were at stage IA₂ , and 2 were at stage IIA. The majority (18/30) were squamous. Two lesions were >2 cm in size, and only 4 had vascular space invasion. The median operative time was 285 minutes (range 155-455 minutes), median blood loss 200 mL (range 50-1200 mL), and median hospital stay 4 days (range 2-9 days). There were 4 intraoperative complications—2 attributed to the trachelectomy and 2 resulting from the lymphadenectomy. The current median follow-up time is 25 months (range 1-79 months). One patient had a recurrence in the left parametrium 18 months after vaginal radical trachelectomy and died of metastatic disease. The only 6 patients attempting pregnancy so far have succeeded: 4 have had healthy babies delivered by cesarean section at 39, 38, 34, and 25 weeks of gestation. Two are currently 33 and 8 weeks pregnant. Conclusion: Radical vaginal trachelectomy appears to be a valuable procedure in well-selected patients with early-stage cervical cancer. Successful pregnancies are definitely possible after this procedure. This new surgical technique warrants further careful evaluation to determine precise indications. (Am J Obstet Gynecol 1998;179:1491-6.)     

Pregnancies and births after oocyte cryopreservation

OBJECTIVE: To determine the potential of oocyte cryopreservation techniques. DESIGN: Retrospective data analysis. SETTING: A tertiary infertility center. PATIENT(S): Sixty-eight patients (29 to 37 years of age) undergoing assisted reproduction procedures for infertility problems. INTERVENTION(S): Oocytes from women treated for infertility were cryopreserved with a slow cooling/rapid thawing protocol in which 1,2 propanediol and sucrose were used as cryoprotectants. Eighty-six thawing cycles were performed. MAIN OUTCOME MEASURE(S): Rates of survival after thawing, fertilization after intracytoplasmic sperm injection, cleavage, implantation, and pregnancy. RESULT(S): We treated 68 patients through 86 thawing cycles. Seven hundred thirty-seven oocytes were thawed, and 59 transfer cycles were performed. The survival rate was 37%. The fertilization and cleavage rates were 45.4% and 86.3%, respectively. A total of 15 clinical pregnancies were achieved with pregnancy rates of 25.4% per transfer and 22% per patient. There were three miscarriages, resulting in an abortion rate of 20%. Seventeen of the 104 transferred embryos implanted, corresponding to an implantation rate of 16.4%. Thirteen babies were born, 8 females and 5 males. CONCLUSION(S): Statistically significant results were obtained for fertilization, cleavage, and pregnancy rates. Our results show oocyte cryopreservation may represent an alternative to embryo storage in selected cases.     

Pregnancies in Gaucher disease: a 5-year study

OBJECTIVE: The study was undertaken to investigate the outcome of pregnancies in Gaucher disease, particularly in enzyme-treated women. STUDY DESIGN: A retrospective study was performed of pregnant women evaluated at a referral clinic. RESULTS: There were 43 (17 treated, 26 untreated) women with 66 pregnancies (23 treated, 43 untreated). The live birth rate was 78.3% among treated, 86.0% among untreated. One treated woman had three spontaneous abortions; 3 untreated women had one each. Four pregnancies in each group had postpartum bleeding, 7 requiring transfusions. Postpartum infections were prevalent among treated. Cesarean sections were generally for historic reasons. There was no exacerbation of Gaucher disease, except one bone crisis. CONCLUSION: Most untreated women with milder disease enjoyed an uncomplicated course. Enzyme-treated patients (ie, with more severe disease) had more bleeding and infections post partum, but few had spontaneous abortions. Hematologic consultation is recommended. A review of world experience with pregnant patients with Gaucher disease is included.     

Preeclampsia in Twin Pregnancies: Incidence and Outcome

Objectives: To confirm the increased incidence of preeclampsia in twin pregnancy and to determine the relationship to zygosity and placentation; to consider the perinatal outcome of twin pregnancies in this condition.

Methods: Retrospective study of all twin pregnancies (n = 2473) identified from the Aberdeen Maternity and Neonatal Databank to women resident in the Grampian Region of Scotland for the period 1950–1995.

Results: The increased relative risk for gestational hypertension, preeclampsia, and eclampsia in twin pregnancies compared to singleton pregnancies has been confirmed as significant both in primiparas and multiparas with little variation in rates over the time period under review. Neither the sex of the offspring nor zygosity influences the incidence of hypertensive disease, whereas preeclampsia is more common in association with monochorionic placentation.

As the birth weight was lower and placental weight greater in MzMc twins compared to either MzDc or DzDc, there was a higher placental index in such cases. No difference in the birth weights of individual twins, the difference in birth weights between the twins, placental weight, or placental index were found in relation to hypertensive disease. Gestation at delivery was earlier in normotensive twin pregnancies than in those women who developed a hypertensive problem. This leads to a higher perinatal death rate and lower survival rate for the babies in normotensive women with a twin pregnancy.

Conclusion: Although gestational hypertension, preeclampsia, and eclampsia all occur more commonly in twin pregnancy, this does not lead to significant growth retardation nor discordant fetal growth and a poor outcome for the twins. Although the incidence of preeclampsia is higher in twin pregnancies with monochorionic placentation, this does not seem to be mediated by deficiencies in placental development as assessed in this study.