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Objective:To analyze the association of pre-pregnancy body mass index (BMI) and gestational weight gain with macrosomia.Methods:In this retrospective cohort study, data of all puerperae and newborns in the Obstetrics Center of Peking Union Medical College Hospital from July 2020 to June 2021 were collected, including basic maternal information, pregnancy complications and neonatal conditions. A total of 2 422 pregnant women with full-term singleton live birth and their newborns were included in the analysis. The incidence of macrosomia (≥4 000 g) was calculated according to the birth weight of the newborns. Logistic regression and heat map were used to analyze the associations of pre-pregnancy BMI and gestational weight gain with macrosomia.Results:The incidence of macrosomia was 4.00% (97/2 422) in full-term singleton live birth newborns. Pre-pregnancy body weight, pre-pregnancy BMI, pre-pregnancy overweight/obesity rate, pre-delivery body weight, total weight gain during pregnancy, mean weekly weight gain during pregnancy, the proportion of excessive weight gain during pregnancy, duration of pregnancy, and the proportion of primiparity and education level of junior college or below were all significantly higher in the puerperae of the macrosomia group than those in the non-macrosomia group [(63.87±8.27) vs (58.14±7.86) kg, (23.33±2.97) vs (21.60±2.72) kg/m2, 35.1% vs 17.3%, (77.48±9.11) vs (70.02±8.79) kg, (13.61±4.56) vs (11.88±4.40) kg, (0.34±0.11) vs (0.30±0.11) kg, 58.8% vs 31.1%, (280.47±7.79) vs (276.14±7.83) d, 34.1% vs 23.7%, 18.6% vs 7.5%] (all P<0.05). Pre-pregnancy BMI ( OR=1.227, 95% CI: 1.145-1.314), mean weekly weight gain during the whole pregnancy ( OR=33.453, 95% CI: 5.172-217.947), duration of pregnancy ( OR=1.083, 95% CI: 1.055-1.112), primiparity ( OR=1.969, 95% CI: 1.232-3.101) and education level of junior college or below ( OR=2.525, 95% CI: 1.325-4.668) were all positively associated with occurrence of macrosomia (all P<0.05). The incidence of macrosomia increased with the pre-pregnancy body mass index and mean weekly weight gain during the whole pregnancy. Conclusions:High pre-pregnancy BMI and mean weekly weight gain during the whole pregnancy are associated with the increased risk of macrosomia. Appropriate weight management during pregnancy may help to reduce the incidence of adverse pregnancy outcomes.
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Objective:To investigate the value of proteinuria in evaluating the severity of pre-eclampsia (PE) and assessing the maternal and neonatal outcomes of PE.Methods:The clinical records of 265 pregnant women who were diagnosed with PE at Peking Union Medical College Hospital from January 2011 to June 2021 were retrospectively analyzed. According to 24-hour urine protein (24-hUPro) results, pregnant women were divided into two groups: the non-proteinuric group (24-hUPro<0.3 g, n=10) and proteinuric group (24-hUPro≥0.3 g, n=255). The proteinuric group was further divided into 3 subgroups based on proteinuria levels: mild group (0.3 g≤24-hUPro<2.0 g, n=119), moderate group (2.0 g≤24-hUPro<5.0 g, n=59), and severe group (24-hUPro≥5.0 g, n=77). The demographic and clinical data, laboratory indicators, pregnancy complications, maternal and neonatal outcomes were compared between different groups. Results:In proteinuric subgroups, increased proteinuria was associated with earlier onset gestations, higher incidence of headache, peripheral tissue edema, serosal effusion, intrauterine growth restriction, and abnormal umbilical cord blood flow (all P<0.05). There were no significant differences in the incidence of placental abruption, eclampsia and maternal mortality among the three subgroups, but there were significant differences in the incidence of neonatal birth weight and multiple neonatal complications (all P<0.05). Compared with the proteinuric group, the non-proteinuric group showed later onset gestation (median:34.7 vs 37.6 weeks) and gestational age of delivery (median:36.0 vs 38.4 weeks), lower proportion of ocular vascular lesions [56.7% (135/238) vs 2/9], higher birth weight (median: 2 325 vs 2 750 g), and lower rate of neonatal intensive care unit occupancy [54.3%(127/234) vs 1/10;all P<0.05]. Conclusions:The proteinuria plays an important role in assessing the severity of PE and maternal and neonatal outcomes, but it is not the only indicator. The non-proteinuric PE pregnant women might still lead to severe maternal and neonatal outcomes.
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A 44-year-old pregnant woman (G5P3) who had delivered two children with DMD was admitted and underwent prenatal diagnosis at Peking Union Medical College Hospital in 2019. (1) The karyotype of the fetus in 2019 was 47,XXY. The fluorescence in situ hybridization (FISH) result showed a nucish(CSPX×2, CSPY×1)[100] and multiplex ligation-dependent probe amplification (MLPA) suggested sex chromosome abnormality. Based on the above results, the fetus was diagnosed with Klinefelter syndrome. Fetal short tandem repeat (STR) linkage analysis and Sanger sequencing indicated a heterozygous mutation of c.9543delG(p.Trp3181CysfsTer2). (2) Sanger sequencing of the proband found a novel frameshift mutation of c.9543delG(p.Trp3181CysfsTer2 ) in exon 65 of the DMD gene. (3) The male fetus performing prenatal diagnosis in 2008 was found to have the same maternal gene markers as the proband with the same genotype. While the genotype of the fetus in 2009 obtained a different maternal gene marker from the proband and did not detect the same DMD gene mutation. This fetus was delivered at full term and was good during follow-up. (4) The elder brother and cousin of the proband had the same frameshift mutation in exon 65 of the DMD gene as the proband. The mother of the proband was a heterozygous carrier of the mutation.
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This article reviews the emerging artificial intelligence (AI) technology and its application in the field of aneuploidy prenatal screening from the aspects of the research methods of AI, the status of prenatal screening, and the role of AI in the integration of the screening markers, improvement of the screening performance, and optimization of screening strategy, etc. There is no doubt that AI has great potential in improving the ability of disease prediction through, integrating various screening data, discovering additional value of the data, and reducing social medical expenses. However, AI technology should be viewed and used in a scientific, rational, and comprehensive way to achieve the ideal effect in the field of prenatal screening.
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Objective@#To investigate the impact of maternal X chromosome aneuploidies on cell free DNA (cf-DNA) prenatal screening.@*Methods@#After genetic counseling, invasive prenatal diagnosis was provided for the 124 cases with high risk of sex chromosome aneuploidie (SCA) indicated by cf-DNA prenatal screening. For cases with discordant results of fetal prenatal diagnosis and cf-DNA prenatal screening, maternal leukocyte was collected for copy number variation sequencing (CNV-seq) to detect whether the maternal X chromosome was carrying variations.@*Results@#Totally, 124 cases with high risks of SCA indicated by cf-DNA prenatal screening, 9 cases refused to take invasive prenatal diagnosis, while the remaining 115 cases received. Among the 115 cases, 41 cases received accordant results with cf-DNA prenatal screening while 74 cases discordant. Among the 74 cases with discordant results, 19 cases were indicated with maternal X chromosome variations by maternal leukocyte CNV-seq, which accounting for 25.7% (19/74) of the SCA false positive cases, and 15.3% (19/124) of all SCA cases.@*Conclusions@#Pregnant women with X chromosome variations may affect the results of cf-DNA prenatal screening, resulting in false positive or false negative outcomes, it should be emphasized that the cf-DNA results may be affected by maternal X chromosome variations. In cases with discordant results of prenatal diagnosis and cf-DNA prenatal screening, maternal leukocyte CNV-seq is recommended to find the reasons of false positive or negative results. And cf-DNA prenatal screening is not recommended for pregnant women who are already known with X chromosome variations.
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Objective:To investigate the impact of maternal X chromosome aneuploidies on cell free DNA (cf-DNA) prenatal screening.Methods:After genetic counseling, invasive prenatal diagnosis was provided for the 124 cases with high risk of sex chromosome aneuploidie (SCA) indicated by cf-DNA prenatal screening. For cases with discordant results of fetal prenatal diagnosis and cf-DNA prenatal screening, maternal leukocyte was collected for copy number variation sequencing (CNV-seq) to detect whether the maternal X chromosome was carrying variations.Results:Totally, 124 cases with high risks of SCA indicated by cf-DNA prenatal screening, 9 cases refused to take invasive prenatal diagnosis, while the remaining 115 cases received. Among the 115 cases, 41 cases received accordant results with cf-DNA prenatal screening while 74 cases discordant. Among the 74 cases with discordant results, 19 cases were indicated with maternal X chromosome variations by maternal leukocyte CNV-seq, which accounting for 25.7% (19/74) of the SCA false positive cases, and 15.3% (19/124) of all SCA cases.Conclusions:Pregnant women with X chromosome variations may affect the results of cf-DNA prenatal screening, resulting in false positive or false negative outcomes, it should be emphasized that the cf-DNA results may be affected by maternal X chromosome variations. In cases with discordant results of prenatal diagnosis and cf-DNA prenatal screening, maternal leukocyte CNV-seq is recommended to find the reasons of false positive or negative results. And cf-DNA prenatal screening is not recommended for pregnant women who are already known with X chromosome variations.
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Objective To investigate the prenatal diagnosis and genetic counseling of fetal nuchal fold (NF) thickening.Methods This study retrospectively analyzed 17 fetuses with increased NF detected by prenatal ultrasound examination in Peking Union Medical College Hospital,Peking Union Medical College & Chinese Academy of Medical Sciences from December 1,2016 to December 1,2017.All cases were divided into isolated (isolated group) or non-isolated increased NF group (non-isolated group) according to whether the fetus had concomitant ultrasonographic abnormalities or not.Karyotype and chromosomal microarray analysis (CMA) were performed on all cases.Clinical data,prenatal genetic testing results and pregnancy outcomes were analyzed.Results Of those twelve cases in the isolated group,two were terminated due to the identification of chromosomal abnormalities and pathogenic copy number variations (CNVs) and the fetal autopsy results were consistent with the prenatal diagnosis.The rest 10 pregnancies were all continued including one fetus carrying a variant of unknown significance,which was proved to be a paternal heredity by CMA,and nine without genetic abnormalities and all-these infants were healthy during follow-up.Among the five non-isolated cases,one was diagnosed as trisomy 21 by karyotyping and CMA,and the other four were found to have structural abnormalities under ultrasound scan,but without genetic abnormalities in karyotyping and CMA.And all the five pregnancies were terminated after genetic counseling and three of them chose whole exome sequencing (WES) for further test.One homozygous mutation in CHRNA 1 gene and one de novo mutation in SETD2 gene were found in two cases,respectively,while no abnormality was identified in the other one case.Conclusions Once increased NF were indicated by ultrasound examination,prenatal genetic testing should be offered to the patients,including CMA,regardless of other ultrasonographic abnormalities,and WES should also be offered when necessary.Considering a thickened NF is associated with increased risks of structural defects,a close follow-up with fetal echocardiography and ultrasound is required even the prenatal tests are normal.
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Objective To explore the relationship of MTNR1B DNA methylation with gestational diabetes and gestational glucose and lipid metabolism features.Methods 50 patients with gestational hyperglycemia,diagnosed by 100 g oral glucose tolerance test (OGTT) during mid-trimester were selected between 2009 and 2012.50 pregnant women with normal glucose tolkerance of matched age and body mass index were included in the control group.The blood samples during mid-trimester and the clinical parameters were collected.MTNR1B DNA methylation levels were measured.Results After adjusting age and body mass index,the CpG locus located at +64 bp away from the translation initiation site of MTNR1B was related with gestational diabetes (OR=0.859,95％ CI:0.772-0.955,P=0.005).DNA methylation level of several MTNR1B loci was also related with gestational glucose and lipid metabolism features.Conclusion MTNR1B DNA methylation is related with gestational diabetes and gestational glucose and lipid metabolism.
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Objective To explore the long-term outcome of postpartum glucose metabolism among patients with gestational hyperglycemia and its risk factors.Methods Patients with gestational hyperglycemia,diagnosed by 100 g oral glucose tolerance test (OGTT) during 24th to 28th gestation week between 2010 and 2012 and giving the childbirth in Peking Union Medical College Hospital,were included.The glucose metabolism outcomes were evaluated by 75 g OGTT.The risk factors influencing the glucose metabolism outcome and the glucose metabolism parameter changes between the pregnancy term and now were also analyzed.Results Forty patients with gestational hyperglycemia were included.The follow-up time was postpartum 5-8 years and (6.83±0.74) years on average.Among them,3 patients were diagnosed with type 2 diabetes and 9 patients were diagnosed with impaired glucose intolerance.The overall rate of abnormal glucose metabolism was 30 percent.The third-hour glucose of OGTT larger than 7.45 mmol/L and the area under the glucose curve (Glu AUC) during OGTT larger than 24.875 mmol×h/L were the risk factors for the abnormal glucose metabolism outcome,with the odds ratio of 5.769 (95％ confidence interval 1.064-31.270,P=0.042) and 12.5 (95％ confidence interval 2.226-70.187,P=0.004).Using the 2-hour glucose larger than 8.25 mmol/L and 3-hour glucose larger than 7.45 mmol/L in the OGTT of midtrimester to judge the glucose state in the follow-up visit can achieve the diagnostic efficacy with the sensitivity of 75％,specificity of 82％,positive prediction value of 64％ and negative prediction value of 88％.Comparing with now,the fasting glucose in the midtrimester was lower ([5.49±0.43] vs.[4.55±0.47] mmol/L,P＜0.001),the fasting insulin in the midtrimester was high-er (12.30 [6.35,16.55] vs.8.31 [6.79,12.00] μIU/ml,P=0.048),HOMA-β in the midtrimester was higher (202.67 [145.71,335.71] vs.85.41 [78.63,112.13],P＜0.001).Conclusion The third-hour glucose larger than 7.45 mmol/L and the glucose area under the curve larger than 24.88 mmol×h/L in the OGTT of midtrimester are the risk factors for the abnormal glucose state in the postpartum long-term follow-up.The combination of the second-hour and the third-hour glucoses in the 100 g OGTT of midtrimester can help to predict the postpartum long-term glucose state.
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[Abstrcat] Objectives To analyze 3 cases of 17q12 microdeletion syndrome diagnosed prenatally, and to demonstrate clinical phenotype of the syndrome in prenatal setting.Methods From January 2013 to July 2017,1 370 women received invasive prenatal diagnosis and chromosome microarray analysis(CMA)in Peking Union Medical College Hospital. Among them, 3 fetuses were diagnosed as 17q12 microdeletion syndrome.All 3 cases were low-risk pregnancies.Abnormal structures in fetal kidney were found in all 3 cases, including 1 case of multiple renal cysts,2 cases of bilateral hyperechogenic kidneys.These women accepted invasive prenatal diagnosis followed by karyotyping, parental fluorescence in situ hybridization or CMA validation.Results The second and third trimester ultrasound showed that all 3 fetuses had bilateral renal structural abnormalities, including hyperechogenic kidney, multiple cysts and renal pelvis dilatation. The karyotyping of the 3 fetuses were normal.CMA examination showed that each case had 1.4-1.6 Mb deletion in 17q12 region.Two cases were de novo deletion and 1 case was inherited from the mother who had mild symptoms. The 3 women decided to terminate pregnancies after genetic counseling. Conclusion 17q12 microdeletion syndrome is a recurrent chromosome microdeletion syndrome, and the unique phenotype in prenatal setting is the abnormal structure of bilateral kidneys.A few cases of 17q12 microdeletion syndrome even inherited normally phenotypical parents, and prenatal genetic counseling of 17q12 microdeletion syndrome is relatively difficult.
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Objective To study the clinical presentations,diagnosis and managements of primary hyperparathyroidism (pHPT) in pregnancy.Methods A total of five cases of pHPT in pregnancy were enrolled from January 2005 to December 2014 in Peking Union Medical College Hospital.Their clinical presentations,managements,maternal-fetal complications and pregnancy outcomes were retrospectively analyzed.Results The median age was 32 (29,41) years.Of the five cases,three were diagnosed in the second trimester,one was before pregnancy and one was after delivery.Most of the clinical symptoms were nonspecific to pHPT,such as nausea,vomiting and loss of appetite.Frequent urination and nocturia occurred in one;unconsciousness and manifestations of acute pancreatitis and eclampsia relevant symptoms were complained of by one.The common maternal complications were nephrolithiasis and hydronephrosis (3/5),osteoporosis (2/5),anemia (2/5) and kaliopenia (2/5),while the severe complications were hypercalcemic crisis (2/5),acute pancreatitis (1/5),eclampsia (1/5),HELLP (hemolysis,elevated liver enzymes and low platelets) syndrome (1/5),disscminated intravascular coagulation (DIC) (1/5),cerebral infarction (1/5) and intrauterine fetal death of one twin (1/5).The median level of calcium in serum samples was 3.70 (2.78,4.50) mmol/L;the median level of parathyroid hormone (PTH) in serum samples was 294 (151,634) pg/ml.All of the five cases were positive for parathyroid ultrasonography.Four cases received parathyroid radionuclide imaging and had positive results.One asymptomatic patient received no specific treatment,whereas the neonate presented with hypocalcemia after birth.Two cases received surgical resections in the second trimester;one of them had a live birth without fetal complication,while the other had induced abortion.Two cases received postpartum surgery;one asymptomatic patient had a live birth without fetal complication,whilc thc other with twin pregnancy suffered stillbirths (one intrauterine fetal death and one neonatal death).Pathologic diagnosis were solitary parathyroid adenomas in four cases who received surgery.Their operations were effective except that one case,which was improved after treatment,was complicated with secondary hypoparathyroidism.Conclusions The symptoms of pHPT in pregnancy are often nonspecific,but it can cause maternal and fetal morbidity and mortality.Early diagnosis of pHPT,followed by appropriate managements,has been shown to significantly reduce the complications.Surgical management should be a safe and effective choice.
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A 8-channel neural signal′s simultaneous transducer detection micro system was developed to research the neural loop located at the brain hippocampus zone. The components of the system contained the neural probe manufactured with the Micro-electro-mechanical-systems (MEMS) technique based on silicon-on-insulator (SOI) substrate, biological low noise chopper-stabilization amplifier, low noise and intermediate speed SAR-ADC converter, reduced and low power ASK/FSK modulation radio transmitter. The micro system was applicable with the characters of small volume, interferences free, neural electrophysiology and neurotransmitter simultaneous detection, high sensitivity, high linearity, etc. The electrode resistance was optimized to 35.0 kΩ after depositing nanometer platinum black on the 4 electrophysiological sites on the Pt electrode. With the modification enzyme technique, nanomaterial enzyme membrane (Pt-mPD-GluOx) was directly fixed on the glutamate detection locus for selectively detecting special neural neurotransmitter matter. In addition, the electrochemistry measurement results indicated that the linear range of glutamate was 6-35 μmol/L with correlation coefficient of 0.97, the sensitivity was 0.0069 pA/(μmol/L). The current response error was less than 3.0 pA, which showed that the neural needle satisfied differential selection. Also, the logic/analog mixed signal 180-nm Application specific integrated circuit (ASIC ) technique (SmicRF180 nm 1Poly6M) was used to manufacture the transducer back-end disposing IC chip, and the test results provided some key parameters such as chopper-stabilization amplifier (equivalent in putting noise voltage ≤0.7 μV rms@1 kHz, gain of 71-82 dB, CMRR/PSRR>100 dB), SAR-ADC (ENOB is 12 bits, power consumption is 1.2 mW when maxmium conversion speed is 1 Msps, signal-noise-ratio is 60.9 dB, etc), and ASK/FSK modulation radio transmitter (the PA′s outputting power of 4-5 dBm, the radiation range of 10 meters). The micro neural transducer integrated system was convenient and wireless wearable for the research of brain hippocampus region.
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Objective To explore the relationship between SNPs in microRNA binding sites of ABCG5/8 and the glucolipid level during pregnancy.Methods 1 925 pregnant women were recruited at Peking Union Medical College hospital from 2006 to 2011.The clinical data were collected and the total genomic DNA was extracted from whole blood samples.ABCG5/8, which was reported to be related with the glucose and lipid metabolism closely, were selected as the candidate gene and the SNPs in its microRNA binding sites with minor allele frequency >5% in Han Chinese in Beijing were chosen.Then the genotyping was performed and analyzed.Results There was only one SNP matching the criteria, rs2278356, and it is significantly associated with LDL-C and TC level during pregnancy (LDL-C: b=0.104 mmol/L, 95% CI 0.023-0.185 mmol/L, P<0.05;TC: b=0.105 mmol/L, 95% CI 0.080-0.203 mmol/L, P<0.05).Conclusions The association of rs2278356 in 3′UTR of ABCG5/8 with LDL-C and TC level in pregnant Chinese Han women is found, which may provide an individualized treatment strategy for pregnant women with high cholesterol.
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Objective To evaluate the efficacy and safety of pelvic arterial embolization (PAE) in women with intractable primary postpartum hemorrhage (PPH). Methods Clinical data of 36 cases were analyzed retrospectively in which women underwent PAE for intractable primary PPH in Peking Union Medical College Hospital between Jan 2006 and Jan 2015. The success rate of PAE were measured and possible predictive risk factors associated with treatment failure were analyzed. The complications secondary to PAE were also recorded. Results (1)The etiology of PPH. Among the 36 cases, 21 patients delivered viginally (Group VD) and 15 received cesarean section (Group CS). The most frequent cause of PPH was uterine atony (72%, 26/36). The less common causes were placental problems (28%, 10/36), genital tract trauma (6%, 2/36) and coagulation defects (3%, 1/36) in turn. Three patients (8%, 3/36) had combined causes.(2)Interventions before PAE. Uterotonic medications were used in all patients. 31 patients received carboprost methylate suppositorites,27 received carbetocin and 31 received carboprost tromethamine. Besides, 20 patients received one or more surgical interventions before PAE. PAE was performed when these interventions failed. (3) Characteristics of PAE. Altogether 78 arteries were embolized in 36 cases. Embolization of bilateral uterine arteries was performed in 31 cases, right internal iliac artery and bilateral inferior epigastric arteries were embolized in one case. Right internal pudendal artery, bilateral uterine arteries and bilateral internal iliac arteries were embolized in one case. And bilateral uterine arteries, bilateral internal iliac arteries were embolized in one case. In the other 2 cases, bilateral internal iliac arteries were embolized.(4)Efficacy of PAE. The overall technical success rate of PAE was 100%(36/36), while the clinical success rate was 94%(34/36). All patients survived.(5)Complications of PAE. 15 patients were transferred to ICU after PAE for 1 to 7 days. Except self-limited fever, no puncture site hematoma, buttock necrosis or vessel rupture was observed. The effect on menstrual cycle and fertility were followed in 25 patients. 17 (68%, 17/25) reported resumption of normal menses and 8 (32%, 8/25) reported amenorrhea. Three pregnancies after PAE were observed. Conclusion PAE is a safe and effective treatment for intractable primary PPH which can prevent hysterectomy and preserve fertility of patients.
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Objective To retrospectively study the serum IgG and IgM antibodies against toxoplasma, rubella virus, cytomegalovirus and herpes simplex virus type 1&2 in various populations, and analyze the clinical values.Methods From 2008 to 2015, 2 661 pregnant women, 324 infertile women, 2 492 women with abnormal pregnancy history, 623 women with recent abnormal pregnancy, 261 infants with intrauterine growth retardation and other diseases, 170 women for preconceptual examination, and 702 women for physical examination in Beijing were included .Commercial EIA kits were used to detect serum IgG and IgM antibodies to toxoplasma, rubella virus, cytomegalovirus and herpes simplex virus type 1&2. Positive reactions of IgM antibodies to any pathogens were re-tested with another kind of commercial EIA kit. PEMS3.1 software was used for statistical analysis.Results The prevalence of serum IgG or IgM antibodies against toxoplasma, rubella virus, cytomegalovirus and herpes simplex virus type 1& 2 were found within 0.7%-1.6%(0-1.2%) , 85.3%-92.0% ( 0.4%-2.7%) , 89.1%-94.9% ( 0.7%-1.7%) , 74.8%-86.0% ( 0 -0.7%) , 8.1% -17.4% ( 0 -4.1%) respectively in the studied population groups.The prevalence of TORCH IgG and IgM antibodies were not found to be higher in both populations with past suspicious exposure ( infertile women and women with abnormal pregnancy history ) and recent suspicious exposure ( women with recent abnormal pregnancy and infants with intrauterine growth retardation and other diseases) than that in pregnant women and women for preconceptual and physical examination. Conclusion No associations between TORCH infections and the suspicious exposure were found in the populations above.
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Objective To investigate the principles of diagnosis and treatment of breast cancer during pregnancy.Methods Clinical data of twelve patients with breast cancer during pregnancy admitted to Peking Union Medical College Hospital between January 1995 and October 2015 were analyzed retrospectively.Follow-up studies on the prognosis of the mothers and infants and the long-term survival were carried out,and data were analyzed with descriptive statistical analysis.Results Of these twelve patients,eleven were diagnosed with breast cancer preliminarily by ultrasound.In the remaining one who presented with paraneoplastic neurological syndrome,breast tumor was discovered by the whole-body positron emission tomography/computed tomography (PET-CT) examination after emergent cesarean section.The mean gestational age at ultrasonic diagnosis in the eleven patients was (26.3 ±3.0) weeks,and all of them received surgical treatment during pregnancy.The mean gestational age at surgery was (28.2±4.4) weeks.Ten patients with epithelial tumor underwent modified radical mastectomy.One patient with breast malignant phyllodes tumor received local extended lumpectomy.Postoperative pathological staging revealed one patient with stage Ⅰ a,two with stage Ⅱ a,one with stage Ⅱ b,six with stage Ⅲ a,and one with stage Ⅲ b.The patient with paraneoplastic neurological syndrome was diagnosed as having stage Ⅳ breast cancer,and received chemotherapy,radiotherapy and endocrinotherapy.One patient received chemotherapy during pregnancy.None of the patients received radiotherapy during pregnancy.All twelve patients,except one with breast malignant phyllodes tumor,received postpartum adjuvant therapy.All patients were followed up regularly.Five patients were followed up for more than five years,the progressionfree survival rate was 4/5 and the overall survival was 5/5.The other seven patients were followed up for less than five years,the progression-free survival rate was 6/7 and the overall survival was 7/7.Eleven of the twelve patients had live birth.Eleven cases received cesarean section at (36.5±2.8) gestational weeks,and the other one had mid-trimester induction of labor at 27 gestational weeks.Of four premature infants,three were sent to neonatal intensive care unit because of neonatal respiratory distress syndrome,and one died of intracranial hemorrhage.The prognosis of the ten survived infants was good.Conclusions Breast cancer is one of the most common malignant tumors during pregnancy,and it often presents in more advanced stages compared with that in non pregnant women.Multidisciplinary cooperation and detailed assessment of maternal-fetal risks and benefits are necessary.
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Objective To evaluate the residual risk (i.e.failure risk in detecting aneuploidies abnormalities except for chromosome 13,18,21,X and Y) of cytogenetic abnormalities using interphase fluorescence in situ hybridization (FISH) for the second-trimester amniocytes.Methods The results of interphase FISH and conventional karyotyping of 2 837 consecutive amniotic fluid specimens were analyzed retrospectively.Probes for chromosomes 13,18,21,X and Y were used.The detection rate and residual risk for interphase FISH were calculated for the following three major clinical indications for prenatal diagnosis (advanced maternal age,abnormal maternal serum screening indicating an increased risk for trisomy 18 or trisomy 21,and ultrasound abnormalities).Results Consecutive interphase FISH and karyotyping of second-trimester amniocytes for prenatal diagnosis were performed from January 1,2010 to July 31,2013.Among the 2 837 cases,85 (3.0％) cases with abnormal karyotypes were found,including 73 cases of aneuploidies involving chromosome 13,18,21,X and Y,which were considered detectable by interphase FISH; 12 cases of chromosomal anomalies,other than aneuploidies of chromosome 13,18,21,X and Y,were diagnosed after karyotyping and were not detected by interphase FISH,including six cases of balanced rearrangements,five cases of imbalanced rearrangements,and one case of pseudomosaic of trisomy 20.Of these 12 chromosomal anomalies,three cases of imbalanced rearrangements involving chromosome 21 showed positive FISH results,and the other nine cases showed negative FISH results among which four case of hereditary balanced rearrangemerts and two cases of novel balanced rearrangements.The total detection rate for interphase FISH was 89.4％ (76/85),the misdiagnosis rate of chromosome abnormalities was 14.1％(12/85),and the residual risk was 0.43％ (12/2 761) following interphase FISH of the second-trimester amniocytes.Conclusions Interphase FISH is a useful adjunct to conventional karyotyping,but should not be regarded as a replacement for karyotyping as too many structural chromosomal abnormalities will be missed.Providing patients with a detection rate and residual risk during counselling may help them understand the advantages and limitations of interphase FISH in their prenatal diagnostic evaluation.
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Objective To compare the complication and cost-effectiveness of the deep inferior epigastric perforator(DIEP) flap and transverse rectus abdominis myocutaneous(TRAM) flap.Methods From January 2000 to December 2014,all patients who underwent DIEP flap and TRAM flap in the People's Hospital of Tangshan and the Affiliated Hospital of North China University of Science and Technology, were selected.Eleven patients underwent immediate breast reconstruction with TRAM flaps and 19 patients with DIEP flaps.The treatment cost,length of hospitalization, and complication in the two year after surgery for each group were compared.Results For the major complications,there were 5 cases appeared fat necrosis in TRAM group, and 1 case in DIEP group,the differences was statistically significant(P=0.016).One case appeared flap loss in TRAM group,and DIEP group was zero,both of the two group had no abdominal wall hernia, there was no significant difference (P ＞ 0.05).For the minor complications, there were 4 cases appeared postoperative hematoma in TRAM group, and 1 case in DIEP group, the difference was statistically significant(P =0.047).Two cases appeared wound dehiscence in TRAM group,and DIEP group was 1 case, 1 case happened infection in TRAM group,there was no statistically significant difference(P＞0.05).The treatment costs were (14 133.12±1 546.88)yuan for the TRAM group and (16 838.94± 3 006.05)yuan the DIEP group, the difference was statistically significant (P =0.010).The hospital stay was (17.28± 2.08)days for the pedicled TRAM group and (18.39±2.87) days for the DIEP group,the different was not statistically significant(P＞0.05).Conclusion The DIEP flap has a better clinical outcomes,but more expensive.
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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.
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Objective To explore the differentially expressed genes (DEG) involved in the pathogenesis of preeclampsia(PE). Methods The gene expression profiles of placental tissues from 7 severe PE patients and 7 preterm controls from June to December 2012 were assessed using microarray. Gene ontology(GO)enrichment analysis and pathway analysis were performed to explore the genes and pathways involved in the pathogenesis of PE. Four DEG involved in these biological processes were further verified by quantitative real-time PCR. Results A total of 308 transcripts were significantly differentially expressed. Of these DEG,81 genes(LEPTIN,PAPPA2,CRH,PLIN2,INHA,BCL6,FLT1,CCR7,etc)were up-regulated,and 227 genes(CXCL12,CXCL9,etc)were down-regulated. GO enrichment analysis indicated that the top 3 GO molecular functions were immune response(GO: 0006955,17 DEG),positive regulation of apoptosis(GO: 0043065,11 DEG)and inflammatory response(GO: 0006954,11 DEG). Pathway analysis showed that the top 3 pathways were cell adhesion molecules(11 DEG),cytokine-cytokine receptor interaction(11 DEG),chemokine signaling pathway(8 DEG). Many genes(LEP,FLT1,TFRC,SH3PXD2A, CYP11A1,SEPP1,and so on)involved in oxidative stress were found to be significantly changed. Of these genes,LEP were significantly up-regulated with a fold change of 61.5. The fold changes of FLT1, SH3PXD2A,SEPP1,CYP11A1,TFRC were 8.6,2.2,-2.0,2.7 and-2.8. Four DEG involved in oxidative stress were further verified by quantitative real-time PCR. Conclusions A DEG signature was identified in severe preeclampsia placentas compared with normal controls. The DEG mainly involved in the molecular mechanisms of immune response,oxidative stress and inflammatory response,and were closely associated with the pathogenesis of PE.