Juntao Liu

Noninvasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective Chinese population

The recently developed noninvasive prenatal test (NIPT) presents a new era of prenatal screening. Previously reported studies were primarily conducted on high‐risk and advanced maternal age (AMA) pregnancies. We sought to evaluate the performance of NIPT for detection of fetal aneuploidies in a Chinese cohort of women younger than 35 years old in a prospective clinical setting.

Pregnancy in women with systemic lupus erythematosus: a retrospective study of 111 pregnancies in Chinese women

Abstract Objective. The impact of pregnancy on lupus activity has been controversial especially in Chinese women. Research looking at predictive factors in this population are sparse. The aim of this study was therefore twofold: to determine the frequencies of abnormal pregnancy outcomes in a Chinese cohort and to identify clinical and laboratory factors predicting adverse fetal and maternal outcomes in Chinese women with systemic lupus erythematosus. Study design. Data of 111 pregnancies of 105 systemic lupus erythematosus (SLE) patients from January 1990 to December 2008 in Peking Union Medical College Hospital in Beijing were analyzed retrospectively. Univariate analysis using chi-square test and logistic regression was used to assess the predictive value of each variable on binary outcomes. Lupus activity was based on SLE Disease Activity Index (SLEDAI) criteria. Results. There were 23 elective, 2 spontaneous abortions, and 5 stillbirths, with 81 pregnancies resulting in live births including two multiple gestations. Three neonatal deaths were reported. Fetal loss rate including neonatal death was 11.1%. Fetal loss in active SLE group (17.0%) was significantly higher than those in inactive group (2.0%) (P = 0.047). The incidence of premature birth in active SLE group was 25/47 (53.2%), which is significantly higher than those in inactive group (3/34, 8.8%) (P < 0.001). Small for gestational age (SGA) was more common in active SLE group with incidence of 40.0% compared to 5.6% in inactive group (P < 0.001). Five fetal malformations were recorded (6.0%), including three fetal heart malformations (one complete heart block, one tetralogy of Fallot, and one atrial septal defect) and two multiple fetal malformations, which were significantly higher than general population. Among 25 pregnancies that were in active stage at conception, 14 (56%) deteriorated during pregnancy. Of the 68 pregnancies that were stable at conception, 26 (38%) flared during pregnancy or postpartum. Preeclampsia/eclampsia (OR = 14.83, 95% CI: 3.83–57.41) and thrombocytopenia (OR = 4.43, 95% CI: 1.12–17.60) were significant predictors of fetal loss; preeclampsia/eclampsia (OR = 8.04, 95% CI: 2.00–32.34) and active SLE (OR = 19.90, 95% CI: 2.38–166.27) were significantly associated with preterm birth; preeclampsia/eclampsia (OR = 8.92, 95% CI: 2.25–35.44) and thrombocytopenia (OR = 4.03, 95% CI: 1.24–17.25) were also significant predictors of maternal SLE flare-up. Conclusion. In general, lupus in pregnancy in the Chinese population is generally similar to other cohorts. Pregnancies can be successful in most women with SLE. However, an increase in SLE activity can occur in a significant number of patients, even those who are well controlled. Adverse fetal outcome including fetal loss, preterm birth, and SGA increases significantly with SLE flares during pregnancy with preeclampsia/eclampsia, thrombocytopenia, and active SLE serving independent predictors of adverse fetal and maternal outcome. Fetal echo should not just for heart block but for structural abnromalities as the structural malformation rate was significantly higher than general population, especially congenital heart disease.

Array-based comparative genomic hybridization is more informative than conventional karyotyping and fluorescence in situ hybridization in the analysis of first-trimester spontaneous abortion

BackgroundArray-based comparative genomic hybridization (aCGH) is a new technique for detecting submicroscopic deletions and duplications, and can overcome many of the limitations associated with classic cytogenetic analysis. However, its clinical use in spontaneous abortion needs comprehensive evaluation. We used aCGH to investigate chromosomal imbalances in 100 spontaneous abortions and compared the results with G-banding karyotyping and fluorescence in situ hybridization (FISH). Inconsistent results were verified by quantitative fluorescence PCR.ResultsAbnormalities were detected in 61 cases. aCGH achieved the highest detection rate (93.4%, 57/61) compared with traditional karyotyping (77%, 47/61) and FISH analysis (68.9%, 42/61). aCGH identified all chromosome abnormalities reported by traditional karyotyping and interphase FISH analysis, with the exception of four triploids. It also detected three additional aneuploidy cases in 37 specimens with ‘normal’ karyotypes, one mosaicism and 10 abnormalities in 14 specimens that failed to grow in vitro.ConclusionsaCGH analysis circumvents many limitations in traditional karyotyping or FISH. The accuracy and efficiency of aCGH in spontaneous abortions highlights its clinical usefulness for the future. As aborted tissues have the potential to be contaminated with maternal cells, the threshold value of detection in aCGH should be lowered to avoid false negatives.

The effects of screening and intervention of subclinical hypothyroidism on pregnancy outcomes: a prospective multicenter single-blind, randomized, controlled study of thyroid function screening test during pregnancy.

Abstract Purpose: To evaluate the effect of subclinical hypothyroidism (SCH) screening and intervention on pregnancy outcomes and explore the significance of thyroid function during early pregnancy. Methods: Pregnant women were recruited from Peking Union Medical College Hospital (screening group for measuring thyroid function and thyroid antibody in early pregnancy) and Haidian Maternal & Child Health Hospital (control group whose serum was stored and measured shortly after delivery) from July 2011 to December 2012. Thyrotropin levels 2.5–10 mIU/L and free T4 levels in normal range were considered SCH. Some of the screening group were treated with levothyroxine and adjusted. The others did not take medicine but kept a regular follow-up visit to doctors after antenatal clinic. The pregnancy outcomes and complications were compared. Results: 1671 women (675 in screening group and 996 in control group) were recruited. 419 (167 from screening group) women was diagnosed as SCH. In screening group, 105 SCH and 4 hypothyroid women received thyroid hormone replacement therapy. The miscarriage and fetal macrosomia risks were lower, and cesarean was higher in screening group than control. Conclusion: Screening and intervention of SCH can significantly reduce the incidence rate of miscarriage.

Contribution of maternal copy number variations to false‐positive fetal trisomies detected by noninvasive prenatal testing

The aim of the study was to determine the contribution and significance of maternal copy number variations (CNVs) to false‐positive noninvasive prenatal testing (NIPT) trisomy results.

Cytogenetic and clinical analysis of 340 Chinese patients with primary amenorrhea.

OBJECTIVE To analyze the relationship between karyotypes and clinic features of patients with primary amenorrhea. METHODS G banding was done for 340 patients with primary amenorrhea to facilitate individual chromosome identification, and if specific staining for certain portions of the chromosome was necessary, C banding was used. The clinical data were recorded by physical examination and ultrasound scanning. RESULTS Karyotype analysis of the 340 patients revealed that 180 (52.94%) patients had normal female karyotypes and 160 (47.06%) patients had abnormal karyotypes. The abnormal karyotypes included abnormal X chromosome (150 patients), mosaic X-Y chromosome (4 patients), abnormal autosome (5 patients), and X-autosome translocation (1 patient). The main clinical manifestations in patients with primary amenorrhea were primordial or absent uterus (95.9%), invisible secondary sex features (68.8%), little or absent ovary (62.6%), and short stature (30.0%). The incidence of short stature in patients with X chromosome aberration (46%, 69/150) was significangly higher that in patients with 46, XX (9.44%, 17/180) as well as 46, XY (6.67%, 3/45; Chi square = 146.25, P=0.000). All primary amenorrhea patients with deletion or break-point at Xp1 1.1-11.4 were short statures. CONCLUSIONS One of the main reasons of primary amenorrhea is choromosome abnormality, especially heterosome abnormality. It implies the need to routinely screen chromosomal anomalies for such patients. There might be relationship between Xp1 1.1-11.4 integrity and height improvement.

Clinical Analysis of Placenta Previa Complicated with Previous Caesarean Section

Objective To investigate the clinical features and treatment of placenta previa complicated with previous caesarean section. Methods The clinical data of 29 patients with placenta previa complicated with a previous caesarean section (RCS group) admitted in Peking Union Medical College Hospital during a period from 2003 to 2011 were retrospectively reviewed and compared with those of 243 patients with placenta previa without a previous caesarean section (FCS group) during the same period. Results There was no difference in the mean age (28.9±3.6 vs. 28.1±4.5 years) and the average gravidity (2.35±1.48 vs . 2.21±1.53) between RCS group and FCS group (all P >0.05). The RCS group had more preterm births (24.1% vs. 13.2%), complete placenta previa (55.2% vs. 4.9%), placenta accreta (34.5% vs. 2.5%), more blood loss during caesarean section (1412±602 vs. 648±265 mL), blood transfusion (51.7% vs. 4.9%), disseminated intravascular coagulation (13.8% vs. 2.1%), and obstetric hysterectomy (13.8% vs. 0.8%) than the FCS group (all P vs. 13.0%), neonatal asphyxia rate (10.0% vs. 4.9%), and perinatal mortality rate (6.7% vs. 0.4%) of the RCS group were higher than those of the FCS group (all P Conclusions More patients had complete placenta previa and placenta accreta, postpartum hemorrhage, transfusion, uterine packing, obstetric hysterectomy, and perinatal morbidity in the placenta previa patients with previous caesarean section. The patient should be informed of the risk and unnecessary first cesarean sections should be avoided.

Management of pregnancy with ankylosing spondylitis.

OBJECTIVE To discuss the interaction between pregnancy and ankylosing spondylitis, and the management of pregnancy with ankylosing spondylitis. METHODS Twelve cases of pregnancy with ankylosing spondylitis in Peking Union Medical College Hospital from September 2004 to July 2011 were analyzed retrospectively, focusing on the arteritis condition, pregnancy complications, and outcomes. RESULTS All the 12 patients had full-term pregnancy. Five cases gave birth naturally, and 7 cases received cesarean section for maternity factors. No adverse pregnancy outcomes were encountered. Waist pain appeared in 2 cases in the second trimester, for both of which medication failed. One of the 2 cases had natural childbirth, while the other maintained pregnancy smoothly to cesarean section. CONCLUSIONS Pregnancy monitoring can help obtain favorable pregnancy outcomes. Attention should be paid to postpartum change of the illness.

Pregnancy outcomes of repeat cesarean section in Peking Union Medical College Hospital.

OBJECTIVE To evaluate the effect of elective repeat cesarean section on the maternal and neonatal outcomes. METHODS A retrospective clinic- and hospital-based survey was designed for comparing the maternal and neonatal outcomes of elective repeat cesarean section [RCS group (one previous cesarean section) and MRCS group (two or more previous cesarean sections)] and primary cesarean section (FCS group) at Peking Union Medical College Hospital from January 1998 to December 2007. RESULTS The incidence of repeat cesarean section increased from 1.26% to 7.32%. The mean gestational age at delivery in RCS group (38.1+/-1.8 weeks) and MRCS group (37.3+/-2.5 weeks) were significantly shorter than that in FCS group (38.9+/-2.1 weeks, all P<0.01). The incidence of complication was 33.8% and 33.3% in RCS group and MRCS group respectively, and was significantly higher than that in FCS group (7.9%, P<0.05). Dense adhesion (13.5% vs. 0.4%, OR=7.156, 95% CI: 1.7-30.7, P<0.01) and uterine rupture (1.0% vs. 0, P<0.05) were commoner in RCS group compared with FCS group. Neonatal morbidity was similar among three groups (P>0.05). CONCLUSIONS Repeat cesarean section is associated with more complicated surgery technique and increased frequency of maternal morbidity. However, the incidence of neonatal morbidity is similar to primary cesarean section.

High levels of circulating cell-free DNA are a biomarker of active SLE.

High levels of circulating cell‐free DNA (cfDNA) have been reported in patients with inflammatory conditions. The aim of the study was to investigate the levels of cfDNA in patients with systemic lupus erythematosus (SLE).