Great efforts have been made in the prenatal screening and prenatal diagnosis of aneuploidy in China.Nevertheless,the coverage percentage of screening is still low,and the capability of diagnosis is far from enough.To elevate the efficacy of prenatal screening,developing fast aneuploidy diagnositic techniques is quite important.Cell-free DNA testing is believed to be a confirmatory screening test of aneuploidy.Fluorescence in situ hybridization,fluorescence quantitative PCR might be used in the prenatal diagnosis in high risk women.Chromosomal microarray analysis has high sensitivity in the diagnosis of microdeletion and microduplication.The era of cytomolecular diagnosis is coming.

Abnormal thyroid function is high risk for pregnancy.Studies from clinical observation and animal experiments have indicated that maternal sub clinical hypothyroidism during the first gestational term may lead to impairment of brain development of offspring,and early diagnosis and effective treatment may prevent the damage.Therefore,it is suggested that screening thyroid function before gestational 8 weeks in pregnant women is initiated.The changes in thyroid function during pregnancy are related to these changes in maternal thyroid physiology can lead to confusion in the diagnosis or evaluation of thyroid abnormalities.Establishment of trimester-specific reference ranges is urgently needed.Local iodine nutritional statue and testing reagent effect the measured value of thyroid function in general population,so it is recommend that all regions and hospitals should establish their own pregnancy reference ranges.

ObjectiveTo investigate the high risk factors,etiology,diagnosis,treatment and precaution of venous thromboembolism (VTE) in pregnancy and puerperium. MethodsData of 16 cases of VTE admitted in Department of Obstetrics and Gynecology,Peking Union Medical College Hospital from January 1992 to April 2011 were analyzed retrospectively.The differences of blood routine test and coagulation function between VTE patients (study group) and normal pregnant women (control group) were compared by paired t test in this case-control study.Results All patients were diagnosed by color Doppler ultrasound or CT pulmonary artery angiography.Five cases (31.2 ％) occurred before delivery and 11 (68.8 ％) occurred during postpartum.Two cases (12.5 ％)complicated by pulmonary thromboembolism,and one of them died.Six cases (37.5％) were older than or equal to 35 years old,and 12 cases (75.0％) had gestational complications.The hematocrit in study group were lower than that in control group (0.29±0.06 vs 0.39±0.02,t=4.56,P=0.01).There was no statistical difference between the coagulation function of the two groups.After anticoagulant therapy or surgery,15 cases recovered.One pulmonary thromboembolism patients complicated with rheumatic cardiac disease remained shock after anti-coagulants was administered,then died of hemorrhage of respiratory tract after inferior vena cava filter placement. Conclusions VTE is likcly to happen in puerperium than in pregnancy.There are no good screening indicators for thromboembolism during pregnancy and puerperium.Anticoagulation is recommended to be the first line therapy.For women with high risk of thromboembolism,it is suggested to prevent actively and treat early to decrease the complications and long-term sequelea.

Objective To compare the neonatal outcomes of different gestational age at which elective cesarean sections at term were performed. Methods All the cases of cesarean section registered in Peking Union Medical College Hospital from September 2002 to November 2009 were collected. Women with viable singleton pregnancies delivered before the onset of labor and without recognized indications for cesarean section after 37 weeks at term were included and their general information and outcomes were compared with one-way ANOVA. All the maternal data and neonatal adverse events were compared with Cochran-Armitage test among different gestational weeks, including respiratory complications (respiratory distress syndrome or transient tachypnea of the newborn), infections, admission to the neonatal intensive care unit (NICU), and hospitalization in NICU＞5 d. Results Of 8122 primary cesarean sections and 594 repeat cesarean sections at term, 4565 and 409 cases were performed electively as the primary or repeat cesarean section. Among the 4565 women underwent primary elective cesarean sections, 2194 (48.1%) were before 39 gestational weeks,and 1828 (40.0%) at 39-39+6 weeks. While, among the 409 repeat elective cesareans sections, these figures were 275 (67.2%) and 120 (29.3%), respectively. No fetal or neonatal death occurred during perinatal period. Compared with births at 39-39+6 weeks, births at 37-37+6 weeks or 38-38+6 weeks were associated with increased risk of the neonatal adverse events. For the primary cesarean section cases, the odds ratio (OR) for births at 37-37+6 weeks and 38-38+6 weeks was 1.4 (95% CI: 0.9-2.0) and 1.1 (95% CI: 0.9-1.4), respectively. For the repeat cesarean section cases, OR for births at 37-37+6 weeks and 38-38+6 weeks was 2.5 (95% CI: 1.1-5.8) and 1.3 (95% CI: 0.6-2.7) respectively. Conclusions Elective cesarean section before 39 weeks of gestation is popular and associated with adverse neonatal outcomes. Elective cesarean section performed after 39-39+6 gestational weeks might decrease the risk of adverse neonatal outcomes.

Objective:The clinical features,maternal and fetal outcomes and management of pregnant women with uterine malformation during the pednatal period were investigated.Methods:99 pregnant patients with uterine malformation as research group and 100 pregnant patients without uterine malformation as control group were recruited in Peking Union Medical College hospital from January 1 st in 2000 to September 30th in 2008.A retrospective study was done to compare the clinical features,matemal and fetal outcomes in these two groups.Clinical management of pregnancy with uterine malformation.Results:In the research group,the incidence of caesarean section,threatened abortion,preterm rupture of membrane,abnormal presentation,and placenta accrete were higher than those in the control group.The average fetal weight was smaller than that of control group.There were no significant differences in postpartum hemorrhage and perinatal child death in these two groups.Conclusions:Patients with uterine malformations more likely undergo C-section.Postpartum hemorrhage and other pregnant complications should be paid more attention.

Objective To discuss appropriate management of postpartum hemorrhage(PPH). Material and Methods By means of hospital based data over 10 years, 15 cases of severe PPH were retrospectively analyzed about the clinical parameters and management. Results Among the 15 patients, 9 had hysterectomy, selective arterial embolization was carried out in 7 and 1 had focus clearance. The main causes of postpartum hemorrhage requiring operative management were: DIC, uterine arteriovenous fistula and malformation, placental abnormality, uterine myoma and laceration. Conclusion Upon recognition of postpartum hemorrhage, the most effective management should be initiated. Every effort should be made to stable patient, save life and maintain the reproductive capability.

Objective To compare and analyse the elective and emergency hysterectomies in obstetric practice. Meth odsA retrospective study was performed to compare elective versus emergency cesarean hysterectomies in PUMC Hos pital from January 1969 to December 1998.ResultsObstetric hysterectomies were performed on 36 patients over 30 years out of 33207 deliveries. 26 emergency cesarean hysterectomies and 10 elective hysterectomies had been done. Pla cental disorder was the main indication of emergency hysterectomy. The perinatal mortality of newborn was 179.5‰. ConclusionObstetric hysterectomy has been proved to be one of the most useful life- saving procedure for patients with postpartum hemorrhage, especially at the time of cesarean section, particularly for patients with a history of benign or malignant gynecologic tumor or irregular vaginal bleeding before pregnancy.

Objective To investigate the prenatal diagnosis and prenatal genetic conselling of pseudomosaic trisomy 20. Methods One case of pseudomosaic trisomy 20 was analyzed and relative literatures were reviewed. Results A 31-year-old gravid 1, para 0 woman underwent amniocentesis at 18 weeks of gestation due to high risk of trisomy 21 during maternal serum screening in September, 2012. Interphase fluorescence in situ hybridization (FISH) of amniocytes with probes GLP13/GLP21/CSP18/CSPX/CSPY showed a normal result, while cytogenetic analysis of cultured amniocytes revealed a karyotype of 47,XY,+20[7]/46,XY[9]. The level of trisomy in the cultured amniocytes was 7/16. Cordocentesis revealed a karyotype of 46,XY in cultured cord blood cells. Interphase FISH analysis was performed using the probes D20Z1 (20p11.1-q11.1) and D20S1157/20QTEL14 (20 per/qter). Each probe showed two signals in all uncultured amniocytes. The prenatal ultrasound findings were unremarkable. The mosaicism was considered to be pseudomosaicism. After genetic counseling, the parents selected to continue the pregnancy. A healthy male baby was delivered at 39 weeks of gestation. Postnatal cytogenetic analysis revealed a karyotype of 46,XY in peripheral blood lymphocytes. Interphase FISH analysis of the uncultured buccal cast-off cells using the probes D20Z1 and D20S1157/20QTEL14 showed normal results in 100%cells. There was no phenotypic abnormality at the age of seven months. Conclusions When mosaic trisomy 20 is identified in amniocytes, further evaluation and genetic counseling are required. Interphase FISH of the uncultured amniocytes with a chromosome-specific probe is a useful tool for confirmation of the prenatal diagnosis of mosaicism. Genetic analysis of multiple tissues is required postnatally.

ObjectiveTo discuss the interaction of pregnancy and myasthenia gravis(MG) and the management of pregnancy with MG.MethodsSeven cases of pregnancy with MG in Peking Union Medical College Hospital were analyzed retrospectively,with respect to the therapy of MG,pregnancy complications and outcomes.Results Totally 38 683 pregnant women were admitted to Peking Union Medical College Hospital between Oct.1983 and Oct.2010.Among them there were 9 patients suffered from MG,with the incidence of 0.023％.Two pregnancies were terminated because of personal reasons,and seven continued.( 1 ) Onset of MG:in the 7 cases,6 were diagnosed before conception,with the mean course of 5.9 years.The other one occurred in the third trimester.(2) Management:all the cases were under close surveillance during pregnancy.Four women took thymectomy before conception,and one of them kept taking medication after surgery. In those who received thymectomy,3 cases remained stable and 1 case worsened during prenancy.The latter one took medication at 33 weeks,and continued to full term.MG exacerbated in the other three women who had not undergone thymectomy before conception.Among them, one woman complicated with systemic lupus erythematosus and lupus nephritis delivered the baby at 31 weeks.(3) Delivery and neonatal outcomes:cesarean deliveries were performed in 5 cases and the other two underwent vaginal deliveries.All the newborns were admitted to neonatal intensive care unit for surveillance.There were three smaller than gestational week (SGA) infants.No MG was observed in newborns.ConclusionsPatients with MG should have an overall evaluation before conception.The course of MG during pregnancy is unpredictable.They may get a promising outcome under the control of a multidisciplinary team including obstetricians and neurologists.Newborns should be carefully monitored for sings of transitory MG in the department of pediatrics.

ObjectiveTo investigate the clinical features and pregnant outcomes of the pregnant women with congenital adrenal hyperplasia (CAH) 21-hydroxylase deficiency (21-OHD).MethodsThe clinical features,therapies,pregnant outcomes of the pregnant women with 21-OHD were retrospectively reviewed in Peking Union Medical College Hospital,from January 2005 to April 2011.ResultsThere were 8 pregnant womenwith 21-OHD including 5siinplevirilizing patientsand 3nonclassical 21-OHD women.Eightpatientswereacceptedprogestationalandprenatalcontinuallowerglucocorticoid treatment.During the gestational period,the dosage of glucocorticoid was adjusted in one pregnancy.The serum level of 17-alpha hydroxyprogesterone (17-OHP) were elevated after pregnancy [ (70 ± 38 ) versus (24 ±23) nmol/L,P ＜ 0.05].The fertility and offspring rate of 8 patients was 8/12,the fertility and offspring rate of patients who started treatment at preadolescence was significantly increased (4/5 versus 4/7).Four patients were accepted genital reconstructive surgery ( clitorectomy,clitoroplasty,vulvoplasty) before pregnancy.The incidence of GDM was 1/8.All patients selected caesarean at from 37 +6 gestation weeks to 39+6 gestation weeks.The average newborn birth weight was (3210 ± 447 ) g,and height was (48 ±2) cm of 8 neonates,none of them was CAH.Conclusions Medical and surgical therapy provides satisfactory fertility and pregnancy outcomes for women with 21-OHD.It is safe to pregnant women with 21-OHD and their fetus in continual lower glucocorticoid treatment.The dosage of glucocorticoid should be carefully adjusted during the pregnancy individually according to serum level of 17-OHP.