Effect of chorionic villus sampling and early pregnancy counselling on uptake of prenatal diagnosis

An early pregnancy counselling clinic was introduced to improve the uptake of prenatal diagnosis and to offer chorionic villus sampling to women aged 38 and over by their expected date of delivery. Ninety eight (62%) unselected older mothers were seen before 11 weeks' gestation, and 23 (32%) of those with viable pregnancies elected to undergo chorionic villus sampling compared with 38 (52%) electing amniocentesis. A quarter of the patients booking before 11 weeks had a miscarriage. Because of the future potential demand for chorionic villus sampling counselling during pregnancy and referral of eligible patients should occur as early as possible.     

早期超声筛查在体外受精-胚胎移植妊娠中的临床应用价值

目的探讨早期超声筛查在体外受精-胚胎移植(IVF-ET)妊娠中的临床应用价值。方法对2010年1月至12月在本院生殖中心接受IVF-ET的685例孕妇于妊娠早期(11~13+6周)进行超声筛查, 内容包括胎数、多胎绒毛膜性及孕龄的确定, 胎儿早期结构异常筛查, 超声软标记(sonographic markers)检测;对异常胎儿选择性行绒毛取样或羊水穿刺术, 对确定为三胎或双胎之一致死性畸形者行减胎术;并追踪所有孕妇的妊娠过程和临床结局。结果685例受检IVF-ET孕妇中, 单胎妊娠440例, 发生率64.23%;双胎妊娠244例, 发生率35.62%;三胎妊娠1例, 发生率0.15%。单胎妊娠早期共发现7例胎儿超声异常, 临床确诊5例。双胎妊娠早期共发现6例超声异常, 临床确诊3例。除去三胎, 本组IVF-ET孕妇总的胎儿畸形发生率为0.86%(8/928), 其中2例经染色体检查确诊, 另有2例接受减胎术。结论通过对IVF-ET妊娠早期(11~13+6周)进行超声筛查, 可以提高异常胎儿早期检出率, 并对多胎及异常胎儿的早期处理有临床指导意义。     

Chorionic villi sampling: cytogenetic and clinical findings in 500 pregnancies

The cytogenetic findings were analysed in a series of 500 pregnancies in which chorionic villi sampling was performed. In all cases a direct method was used, karyotyping being successful in 481 cases (96.2%). The main indication for sampling was maternal age over 36 (412 cases; 82.4%). Abnormal laboratory findings resulted in 24 terminations of pregnancy (4.8%); in addition five unexpected balanced chromosome rearrangements were detected. Twelve of 15 cytogenetic discrepancies were detected at amniocentesis, two after termination, and one at spontaneous abortion. Complete follow up data were available for the first 250 patients, among whom nine pregnancies (3.6%) ended in spontaneous abortion before the 20th week. There were no false negative findings. Seventy additional chromosome studies were performed because of failure of chorionic villi sampling or equivocal results, or for confirmation. Counselling before chorionic villi sampling should include the possibility that subsequent amniocentesis may be needed should mosaicism or other unexpected abnormalities be found. The success rate and accuracy of karyotyping chorionic villi samples by the direct method are acceptable but distinctly less than those of karyotyping cultured amniotic fluid cells.     

The Fern Reaction of Cervical Mucus: Part I. The Effect of the Normal Ovarian Cycle and of Pregnancy. Part II. A Guide to the Early Diagnosis of Pregnancy

The fern reaction of endocervical mucus was tested in 100 non-pregnant and 200 pregnant women with a view to establishing the relationship of this fern pattern to normal ovarian cyclical changes and normal pregnancy. The fern appeared at day 7-9 of the cycle and disappeared at day 18-20. Twenty-eight of 100 pregnancies before 10 weeks yielded positive fern reactions; two of 100 pregnancies after 10 weeks yielded positive fern reactions. In the presence of a positive fern reaction, the administration of 10 mg. of norethynodrel (Enovid) daily for seven days led to prompt withdrawal bleeding in the absence of pregnancy. With a negative fern reaction, a spontaneous period ensues within 12 days in the absence of pregnancy. Two hundred women were tested for early pregnancy on this premise; in 198, a correct diagnosis was obtained.     

Improvement of in vitro fertilisation after treatment with buserelin, an agonist of luteinising hormone releasing hormone

Treatment with buserelin, an agonist of luteinising hormone releasing hormone, and human menopausal gonadotrophin was compared with the conventional treatment of clomiphene citrate and human menopausal gonadotrophin in the outcome of in vitro fertilisation. Seventy seven infertile women had 83 cycles of treatment with buserelin and human menopausal gonadotrophin, and concurrently another 328 infertile women were treated with clomiphene citrate and human menopausal gonadotrophin. Seven (8%) cycles were cancelled owing to inadequate super-ovulation or ovarian hyperstimulation in the women receiving buserelin and 103 (31%) were cancelled because of poor follicular development in those receiving clomiphene citrate. The mean number of oocytes recovered was significantly higher with buserelin (9.5 (SD 4.5) v 5.5 (2.2)) as was the mean number of embryos obtained (4.3 (2.4) v 2.9 (1.7)). Significantly more women who had an embryo transfer became clinically pregnant after treatment with buserelin (53% (30/57) v 30% (48/159), or 36% v 14% of treatment cycles). Altogether 33% (10) of pregnancies in women treated with buserelin were multiple compared with 23% (11) in those treated conventionally. Of the 17 completed pregnancies in women treated with buserelin, 11 resulted in the birth of live babies (eight singletons, two sets of twins, and one set of triplets) and six failed, five before 12 weeks' gestation and one at 22 weeks. The 13 continuing pregnancies (32 weeks) were eight singletons, two sets of twins, and three sets of triplets. Of the 48 completed pregnancies in women treated with clomiphene citrate, 35 resulted in the birth of live babies (26 singletons, five sets of twins and four sets of triplets) and 13 failed, eleven before 12 weeks' gestation and two by 27 weeks. Buserelin increased the chance of pregnancy after in vitro fertilisation compared with conventional treatment, but the risk of multiple pregnancy may be increased.     

Conservative management of pregnancy in diabetic women

In 1979 the obstetric management of pregnancies in diabetic women in Cardiff was changed from elective delivery at 37-38 weeks to delivery at term. This change was facilitated by home monitoring of blood glucose concentrations and improved techniques for assessing fetal wellbeing. There were 35 pregnancies in insulin dependent diabetics in 1972-8 and 45 in 1979-82. The quality of diabetic control during pregnancy was equally good in both periods. The average gestation at final admission to hospital increased from 30 to 37 weeks. Amniocentesis to assess fetal pulmonary maturity was necessary in 26 patients (74%) in the first period of study and in only four (9%) in the second. Gestational age at delivery increased from 37.4 to 39.4 weeks after the change in policy. The proportion of mothers entering spontaneous term labour and delivering vaginally increased from 14.3% to 37.8%. The mean birth weight of live born, singleton infants increased from 3090 g to 3650 g, the feeding pattern improved, and respiratory problems were less common. Morbidity was reduced and perinatal mortality was not increased with conservative management of pregnancy in diabetic women.     

产前超声监测对双胎妊娠并发症的诊断及治疗选择的价值

目的：探讨双胎妊娠的产前超声监测方法对双胎并发症的诊断及治疗选择的价值。方法回顾性分析81例双胎妊娠孕妇的临床资料和超声监测方法,综合评估是否出现双胎输血综合征（TTTS）、选择性胎儿生长受限（sIUGR）等单绒毛膜双胎（MC双胎）特有的并发症,进行相应分期、分型和监测;随访至妊娠终止。结果81例双胎妊娠中双绒毛膜双羊膜囊双胎（DCDA ）40例出现双胎之一宫内死亡1例,双胎生长不一致1例;38例单绒毛膜双羊膜囊双胎（MCDA）出现TTTS 4例,sIUGR 2例,双胎之一唇腭裂畸形1例,双胎之一宫内死亡1例;3例单绒毛膜单羊膜囊双胎（MCMA）并发双胎之一无心畸形1例,联体双胎1例。DCDA并发症明显小于MC双胎并发症（P＜0．05）。DCDA双胎丢失率1/80（胎）,MC双胎丢失率11/82（胎）。DCDA胎儿丢失率明显低于MC双胎胎儿丢失率（ P＜0．05）。产前超声监测与终止妊娠结果100％符合。结论早孕期诊断双胎妊娠的绒毛膜性具有重要的临床意义;对＜26孕周的 MC双胎每2周监测1次,可早期诊断并发症;对≥26孕周的 TTTS及sIUGR在超声严密监测下选择分娩时机,可提高MC双胎围生儿生存率。     

Maternal Perfluorinated Compound Exposure and Risk of Early Pregnancy Loss: A Nested Case-control Study

<正>Early pregnancy loss,defined as a nonviable intrauterine pregnancy occurring before 12 weeks of gestation,is estimated to affect 25%of clinically diagnosed pregnancies^[1].Several demographic,lifestyle,and environmental risk factors have been reported to associate with the risk of early pregnancy loss,yet the causes of most early pregnancy losses remain elusive;thus,further studies are needed.Perfluorinated compounds(PFCs) are a class of widespread environmental pollutants tha...     

阴道超声检测卵黄囊对妊娠结果的预测价值

目的：通过阴道超声检测卵黄囊,研究卵黄囊异常对妊娠结果的预测价值。方法：对102例早期妊娠妇女进行阴道超声检测,测量卵黄囊大小,根据妊娠结果分正常妊娠组,自然流产组,观察卵黄囊正常,与妊娠结果的关系,结果：89例正常妊娠全部可见卵黄囊,其生长与孕周有关,即孕5－11周持续增长,孕12周缩小至消失,呈现一定规律性,卵黄囊异常率在正常妊娠及流产病例中有极显著差异（P＜0．001）,其敏感性（9／13）69．2％,特异性（88／89）98．9％,结论：早期妊娠卵黄囊测量对妊娠结果的预测有价值。     

Outcome of pregnancy in patients with congenital heart diseases

This prospective study was conducted to evaluate the outcome of pregnancies in women with congenital heart diseases. In this study 50 pregnant women age between 20-45 years with congenital heart diseases were included. Twenty two (44%) were presented with atrial septal defect, 12(24%) with ventricular septal defect, 5(10%) were with patent ductus arteriosus, 6(12%) with Fallot's tetralogy, 2(4%) with pulmonary stenosis, 2(4%) with Eisenmenger syndrome, 1(2%) with dextrocardia. Shortness of breath (60%) was the main presenting complaint. Normal vaginal delivery (52%) was done in majority of cases. Spontaneous abortion occurred in 16% of pregnancies. Major complications were heart failure 16%, arrhythmias 21%, cardiovascular mortality 4%, preeclampsia 4%, and eclampsia 2%. Premature birth 16%, fetal demise 4%, neonatal death 2% and cardiac anomaly at birth 2% were also observed. The outcome of pregnancy in women with congenital heart diseases is favourable with considerable maternal and neonatal complications.     

Comparison of second-trimester maternal serum free-β-human chorionic gonadotropin and α-fetoprotein between normal singleton and twin pregnancies: a population-based study

Background  The second-trimester maternal serum screening in twin pregnancy is still controversial, as the serum marker levels in twins are not as clear as those in singletons. This study aimed to evaluate the relationship between the levels of the second-trimester maternal serum free β-human chorionic gonadotropin (free β-HCG) and α-fetoprotein (AFP) in normal twin and singleton pregnancies and to estimate feasible analysis methods for utilizing these markers in second trimester screening for twin pregnancy.
Methods  On the basis of a prospective population-based study of second-trimester maternal serum screening, the concentrations of maternal serum AFP and free β-HCG of 195 normal twin pregnancy and 26 512 singleton controls at gestational weeks 15 to 20 were measured by time-resolved fluoroimmunoassay in one laboratory. The levels of markers were compared between the twins and singletons using weight-correction and gestational age-specific model.
Results  According to the research protocol, 95 communities were randomly sampled, which covered the whole Jiangsu province, the east of China. A total of 26 803 pregnant women (98%), from the target population accepted prenatal screening for maternal serum AFP, β-HCG detection, and all babies were followed up for at least six months. There were 197 (0.73%) twin pregnancies, of which one case had fetal trisomy 18, and one case with fetal anencephaly. The others were normal twin pregnancy. From a total enrollment of 26 803 women participants, 26 512 women with normal singleton pregnancies were selected as the model controls. The other 291 pregnancies, including trisomy 21, neural tube defect (NTD), trisomy 18, and other fetal abnormalities, were excluded. No significant differences were found in the medians of gestational age-specific maternal serum free β-hCG and AFP in normal twin pregnancy comparing with twice those in model controls with the exception of the medians for free β-hCG during the 16th gestational week (P=0.012).
Conclusion  The weight-correction and gestational age-specific levels of Chinese Han population maternal serum free β-hCG and AFP in normal twins were twice the levels as those in the singleton controls during the 17–19 gestational weeks.

     

Outcome of pregnancies after inadvertent exposure to GnRH agonist in early pregnancy

Four pregnancies were exposed to gonadotrophin-releasing hormone agonist (GnRHa) during early pregnancy and the patients were followed up to find out the outcome of their pregnancies. In three patients long-acting GnRHa (triptorelin acetate 3.75 mg) once monthly was used for severe pelvic endometriosis as part of preparation for undergoing assisted reproductive technology (ART) cycle, and in one patient daily injections of short-acting GnRHa (buserelin 0.05 mg) was given for down-regulation for ART cycle. The age of the patients ranged from 29 to 38 years and duration of infertility was 3 to 13 years. In patients prescribed long-acting GnRHa, diagnosis of pregnancy was done late at around 5-8 weeks by ultrasonography, whereas in patients using short-acting GnRHa diagnosis of pregnancy was made with blood beta human chorionic gonadotropin (HCG) level after the 26th day of injections. Three pregnancies were delivered around term and the babies had no apparent complication or any congenital anomaly. One of the pregnancies ended up into spontaneous abortion at 14 weeks of pregnancy. The children were regularly examined by pediatricians regarding physical and mental development and for any abnormal behavioral problems. All of them are normal till now.     

B 族维生素干预后血清同型半胱氨酸水平对早期反复流产患者保胎效果的影响

目的：探讨B族维生素干预后血清同型半胱氨酸水平对早期反复流产患者保胎效果的影响。方法排除导致自然流产其它因素,选择血清同型半胱氨酸水平在10μmol／L及以上的患者80例,随机分为两组,治疗组40例孕前给予B族维生素治疗1月后复查血清同型半胱氨酸水平并继续服用上述药物至妊娠12周;对照组40例孕前后均不予上述药物治疗。孕后两组均常规保胎观察至妊娠12周,行B超检查证实活胎并胎儿发育正常者为保胎成功。结果治疗组服用B族维生素1月后血清同型半胱氨酸水平平均下降44％,妊娠36例,保胎成功30例,保胎成功率83％;对照组妊娠32例,保胎成功18例,保胎成功率56％。结论对于早期反复流产患者,B族维生素可有效降低血清同型半胱氨酸水平,并可有效提高保胎成功率。     

The Australasian Diabetes in Pregnancy Society consensus guidelines for the management of type 1 and type 2 diabetes in relation to pregnancy

Strict control of blood glucose levels should be pursued before conception and maintained throughout the pregnancy (glycohaemoglobin [HbA(1c)] level as close as possible to the reference range). Before conception: high-dose (5 mg daily) folate supplementation should be commenced; oral hypoglycaemic agents should be ceased; and diabetes complications screening should take place. Management should be by a multidisciplinary team experienced in the management of diabetes in pregnancy. Blood glucose monitoring is mandatory during pregnancy, and targets are: fasting 4.0-5.5 mmol/L; postprandial < 8.0 mmol/L at 1 hour; < 7 mmol/L at 2 hours. A first trimester nuchal translucency (possibly with first trimester biochemical screening with pregnancy-associated plasma protein A and beta-human chorionic gonadotropin) should be offered. Ultrasound should be performed for fetal morphology at 18-20 weeks, if required, for cardiac views at 24 weeks and for fetal growth at 28-30 and 34-36 weeks. Induction of labour or operative delivery should be based on obstetric and/or fetal indications. Level 3 neonatal nursing facilities may be required and should be anticipated when birth occurs before 36 weeks, or if there has been poor glycaemic control. Insulin requirements fall rapidly during labour and in the puerperium. At this time, close monitoring and adjustment of insulin therapy is necessary.     

孕中期血清学筛查在产前诊断及妊娠结局预测中的应用

目的评价中孕期产前血清学筛查在产前诊断及指导妊娠结局中的应用价值。方法应用时间分辨荧光免疫法（DELFIA）
对2011~2013年在我院产检的25 520例中孕期单胎妊娠孕妇进行free-β-HCG、μE3、AFP三联血清学指标检测,对筛查高风险者
进行羊水穿刺产前诊断,对开放性神经管缺陷（NTD）高风险者进行多普勒超声检查确诊,并随访其妊娠结局。结果25 520例
产前筛查孕妇中,共筛出高风险1254例（4.91%）,818例行介入性产前诊断者染色体结果异常共47例（5.75%）。随访结果显示
筛查高风险人群不良妊娠结局发生率为1.91%（24/1254）,显著高于筛查低风险人群的0.1%（25/24256）,差异有统计学意义（P<
0.01）。产前诊断结果显示高龄组对21三体征的检出率（15%）显著高于35岁以下组（1.65%）,差异有统计学意义（P<0.01）;另对
189例因产前筛查单项指标中位数MoM值异常行产前诊断的病例分析,染色体异常率为3.17%（6/189）。结论中孕期血清学
筛查,除可筛查胎儿染色体及解剖结构异常,还可用于不良妊娠结局的指导,此外对高龄孕妇出生缺陷的预防也有较高的应用
价值。产前筛查单指标MoM值异常对胎儿染色体异常有一定的提示价值。
     

Serum Beta-hCG of 11 Days after Embryo Transfer to Predict Pregnancy Outcome

Objective To assess the clinic value of a single maternal serum beta-human chorionic gonadotropin (β-hCG) assay 11 d after embryo transfer in ART pregnancies and to predict pregnancy outcome. Methods A total of 384 pregnancies after embryo transfer were included. Inviable pregnancies were defined as biochemical pregnancies, ectopic pregnancies and first trimester abortions. Ongoing pregnancies were defined as singleton pregnancies and multiple pregnancies whose gestation were achieved more than 12 weeks. Serum β- hCG concentrations were compared among different groups. Results On the post embryo transfer d 11, the mean β-hCG concentration of the ongoing pregnancy group (323.7±285.2 mIU/ml) was significantly higher than that of the inviable pregnancy group (81.4±68.1 mmIU /ml) (P<0.001). In multiple gestations, the levels of β-hCG were significantly higher compared with singleton pregnancies. If the β-hCG level was between 10 mIU/ml and 50 mIU/ml, the positive predictive value of biochemical pregnancies and ectopic pregnancies was 81.8%, the negative predic- tive value was 94.4%. If the level was less than 100 mIU/ml, the positive predictive value of first trimester abortions was 80.8%, the negative predictive value was 77.8%. If the level was greater than 250 mIU/ml, the positive predictive value of multiple pregnancies was 83.3%, the negative predictive value was 74.4%. Conclusions A single serum β-hCG level on d 11 after embryo transfer has good predictive value for clinical pregnancy outcome in controlled ovarian stimulation cycles and helps to plan the subsequent follow-up.     

An unusual presentation of recurrent uterine rupture during pregnancy

We describe a case of recurrent uterine rupture at the site of a previous rupture. Our patient had a history of right interstitial pregnancy with spontaneous uterine fundal rupture at 18 weeks of pregnancy. During her subsequent pregnancy, she was monitored closely by a senior consultant obstetrician. The patient presented at 34 weeks with right hypochondriac pain. She was clinically stable and fetal monitoring showed no signs of fetal distress. Ultrasonography revealed protrusion of the intact amniotic membranes in the abdominal cavity at the uterine fundus. Uterine rupture is a rare but hazardous obstetric complication. High levels of caution should be exercised in patients with a history of prior uterine rupture, as they may present with atypical symptoms. Ultrasonography could provide valuable information in such cases where there is an elevated risk of uterine rupture at the previous rupture site.     

Risk of minor and major fetal malformations in diabetics with high haemoglobin A1c values in early pregnancy

Maternal haemoglobin A1c (HbA1c) values were measured before the end of the 15th week of gestation in 142 pregnancies in women with insulin dependent diabetes. In pregnancies complicated by fetal malformations (n = 17) the mean initial HbA1c value was 9.5 (SD 1.8)% of the total haemoglobin concentration, which was significantly (p less than 0.001) higher than in pregnancies without malformations (8.0 (SD 1.4)%; n = 125). HbA1c values did not differ between pregnancies complicated by minor and major fetal malformations, but the rate of malformations showed a positive relation to the HbA1c value in early pregnancy (chi 2 = 11.9; p = 0.001). Fetal malformations occurred in six out of 17 pregnancies (35.3%) in mothers whose initial HbA1c value was 10% or more, in eight out of 62 pregnancies (12.9%) in mothers with initial values between 8.0% and 9.9%, and in only three out of 63 pregnancies (4.8%) in mothers with an initial value below 8.0%. These data support the hypothesis that the increased incidence of fetal malformations in mothers with insulin dependent diabetes is associated with maternal hyperglycaemia during organogenesis. Hence diabetic women who are planning to have a child--especially those with a high HbA1c value--should receive intensified metabolic control.     

Review of Obstetrics and Perinatal Outcome of Multiple Pregnancies with Vanishing and Selective Embryo Reduction in an Oocyte Donation Program

To check previous findings of the most common complications among pregnancies with vanishing embryo（VE） in another actual study retropective and in group of patiens with selective embryo reduction （SER） Methods We defined vanishing phenomenon as the spontaneous loss of one or more embryos after visualizing heart activity at the first trimester of pregnancy. Selective embryo reduction was performed between 8th-12th pregnancy week, through vaginal punction and aspiration of embryonic mass. Results Vanishing embryo was observed in 86 patients （18.0%）. In 61 patients （70.9%） this phenomenom happened before 9th pregnancy week. The incidence of VE increased with higher number of gestational sacs initially visualized （P〈0.03）. First trimester bleeding was more common among pregnancies with VE than in the control （P〈0.005）. The incidence of pregnancy induced hypertension was lower in pregnancies with VE than in the controls （P〈0.03）. In contrast, preterm spontaneous rupture of membranes was higher, although without statistical significance. Gestational age at delivery, mode of delivery and birth weight was similar in the group of VE and the controls （P=NS）. Conclusion All these informations may be useful in counselling patients on the prognosis and outcome of pregnancies achieved by oocyte donation.     

MOSAICISM CONFINED TO PLACENTA IN PREGNANCIES WITH ADVERSE OUTCOME

Chorionic villi and feral tissues from 50 pathological human conceptions ar gesrarional weeks 9-40 were cultured and cytogenetically analyzed to explore the existence of chromosomal mosaicism confined to the extraembryonic tissues and to clarify the relationship between confined placental mosaicism and adverse outcome of pregnancy. Chorionic villi and fetal rlssues from 12 second trimester gesrations terminated for social reasons served as a control group. In two pathological gestations, true mosaicism was found exclusively in chorionic cells and could not be confirmed in cells derived from the fetal tissues, One of these was severely growth retarded, Concordant results were obtained in all other cases,