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.

Objective To analyze the relationship between karyotypes and clinic features of patients with primary amenorrhea. Method Karyotype analysis of patients with primary amenorrhea was performed by using G-banding technique. Results Karyotype analysis of 468 patients with primary amenorrhea revealed that 255 patients (54. 49% ) had normal female karyotypes and 213 patients (45.51%) had abnormal karyotypes, including 143 patients with abnormal X chromosome, 4 patients with mosaic X -Y chromosome, 57 patients with 46, XY karyotype, 8 patients with abnormal autosome and one patient with Xautosome translocation. 75.52% primary amenorrhea patients with short stature had abnormal X chromosome, and all primary amenorrhea patients with deletion or break-up of Xp11. 1 - 11.4 and Xp21 - 22 were short statures. Conclusion One of the main reasons of primary amenorrhea was chromosome abnormity,especial heterosome abnormity. Karyotype analysis should be used to detect primary amenorrhea patients in regular. There might be relationship between height improvement and the abnormity of Xp11. 1 - 11.4 and Xp21 - 22.

Objective To establish the multiple quantitative fluorescent polymerase chain reaction (QF-PCR)assay and evaluate its clinical application in prenatal diagnosis.Methods Totally 170 samples Were collected between May 2008 and July 2009 in prenatal center of Peking Union Medical College Hospital:123 of them were amniotic fluid,9 were chofionic villous samples,20 were fetal blood and 18 were villi from aborted fetuses.All samples were from women of Han nationality,with mean age of (34.1±4.6) years old,and with mean gestational age of(19.6±1.0)weeks.Cytogenetic cultures and karyotyping were made to every sample.Genomic DNA wag extracted from the samples.The sequences of twenty short tandem repeat (STR) markers were designed according to the GenBank and references,including 6 STR markers in chromosome 21.4 in chromosome 18.4 in chromosome 13,4 in chromosome X,1 in chromosome Y and 1 universal marker in both X and Y chromosome.Each sample was amplified by two sets of multiple QF-PCR,which included 4 STR markers in each of 21,18,13 and sex chromosomes. If the result was uninformative,the third set of anotherd 4 STR markers was added. Results ( 1 ) Karyotyping. Cytogenetic analysis were made for all the 170 samples, 151 (89%) of which were normal, and 19 (11% ) were abnormal (2)QF-PCR assay. 167(98% ) samples were detected by QF-PCR. The results were obtained within 2 -3 days after sampling. 134 samples were proved normal by QF-PCR, which was consistent with karyotyping. Among the 19 abnormal karyotype samples, 18 were detected as abnormal( eight were 21-trisomy, three were 18-trisomy)by QF-PCR. Among the 167 samples, 150(90% ) were detected using the first and second set of STR mixtures, and 3(2% ) were detected when the third set of STR was added. The remain 14(8% ) were uninformative. (3) The diagnostic efficiency of QF-PCR. The sensitivity of QF-PCR in prenatal diagnosis of common aneuploidities was 95%, the specificity, the false positive rate, the false negative rate, the positive predictive value and negative predictive value were 100% ,0,5%, 100% and 99% , respectively. (4)Autusome and sex chromosome detection by QF-PCR. Among all the STR markers,D21S1270 and D21S1411 had the highest heterozygosifies in chromosome 21, and DXS8377 had the highest in sex chromosome. The amplifications were stable. Conclusion Multiple QF-PCR assay is a valid alternative in rapid prenatal diagnosis of common chromosome aneuploidies. With high accuracy, it can be used for numerous sample test in large-scale laboratories.

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.

Objective To investigate the effect of video -assisted thoracoscopic surgery (VATS)and conventional thoracotomy in treatment of thoracic esophagus cancer,to provide the reference for clinical.Methods 90 cases of thoracic esophageal cancer in our hospital from January 2012 to January 2015 were chosen as the research subjects.They were randomly divided into observation group(application of VATS treatment)and the control group (application of traditional open chest surgery).The quantity difference,chest drainage,hospitalization time,complica-tions,recovery conditions and other indicators of bleeding were compared in the two groups.Results The operation time of the observation group[(267.6 ±76.5)min]was shorter than that of the control group[(324.4 ±87.6)min]. The amount of intraoperative bleeding[(235.3 ±79.5)mL],drainage volume[(327.5 ±95.2)mL]of the observation group were less than the control group[(398.2 ±98.3)mL and (752.6 ±156.4)mL].Postoperative hospitalization time[(12.2 ±3.2)d]of the observation group was shorter than the control group[(15.8 ±4.4)d].The differences were statistically significant (t =3.276,8.644,15.575,4.439,all P <0.05).There were no significant differences between two groups in recurrence and metastasis rate,mortality rate and total survival rate (χ2 =0.123,0.212, 0.212,all P >0.05).The complication rate of the observation group was lower than that of the control group,the difference was statistically significant (χ2 =4.865,P <0.05).Conclusion In the treatment of thoracic esophageal carcinoma,VATS and conventional thoracotomy surgery has good effect,and VATS has small injury,less complication.

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.

OBJECTIVE:To provide reference for pharmacy staff to choose different drug label databases according to different needs.METHODS:The information organization mode of the three open access drug label databases that included Drugs@FDA,FDA Online Label Repository and DailyMed had been collected and analyzed comparatively from three aspects:retrieval function settings,search results display,data resources and service targets.RESULTS & CONCLUSIONS:In respect of retrieval function,DailyMed provided the most abundant retrieval functions than others.In respects of search results display,DailyMed provided the highest degree of formatted data,followed by FDA Online Label Repository,while Drugs@FDA provided semi-formatted data.Three databases provided the functions of page replication and printing,among which the interface of DailyMed was friendlier and the content of DailyMed was more open;it provided all the download functions.In respects of data resources and service targets,developers of Drugs@FDA and FDA Online Label Repository were FDA,and that of DailyMed was National Library of Medicine (NLM).The data sources used by Drugs@FDA were the drug labels after strict approval by FDA,and the description of drug information by Drugs@FDA was the most comprehensive.FDA Online Label Repository was the original drug labels submitted by the manufacturer to FDA,which was the latest content,and even included unlisted drugs.The data sources of DailyMed were from the information listed on the drug package,and included the information of drug label which was listed but not approved strictly;it covered most comprehensive drugs.

Objective To evaluate the performance characteristics of the second trimester double-marker test for the detection of fetal Down's syndrome in mainland China. Methods This prospective national multi-centered study used alpha-fetoprotein (AFP) and free β-subunit of human chorionic gonadotrophin( free β-hCG)as the serum markers. From May 2004 to September 2006, 11 centers participated in the collection and analysis of maternal serum AFP and free β-hCG between 14 and 20+6 weeks of pregnancy. The screening results were calculated using the standard algorithm based on the standard database provided with the analytic software. Patients with an increased risk of Down's syndrome pregnancy (≥1/270) were offered genetic anmiocentesis. Outcomes of all pregnancies were obtained.Results A total of 66 132 singleton pregnancies were included in the study. The median maternal age was 27 years. At a cut-eft of 1 in 270, the detection rate (DR) based on a Caucasian database was 72% corresponding to a false positive rate (FPR) of 5%, and the DR based on the Chinese database was raised to 76% corresponding to an FPR of 5%. Conclusion The double-marker test using AFP and free β-hCG is an effective screen strategy for second-trimester detection of fetal Down's syndrome in mainland China. Ethnic variance exists between the Caucasian and Chinese populations. The accuracy of screening is increased by the use of race-specific medians.

Objective:To explore the advantages and value for clinical application of clavicle segment osteotomy approach with pectoralis major muscle pedicle in surgical resection of posterior brachial plexus tumour.Methods:From April 2010 to December 2020, 6 patients with brachial plexus tumour behind the clavicle were treated. Two patients had the tumour on the left brachial plexus and 4 on the right. Two patients had the tumours located in the upper trunk of brachial plexus, 2 in the middle trunk, 1 in the medial plexus and 1 in the posterior bundle. The neurological function evaluation were grade II in 3 cases and grade III in 1 case preoperatively. The tumours sized from 3.0 cm× 3.0 cm×2.0 cm to 11.0 cm×8.0 cm×6.0 cm. The clavicular segment osteotomy approach with the pedicle of the pectoralis major was applied in order to expose the surgical field and remove the nerve tumour. All patients underwent regular postoperative outpatient clinic follow-up to record the sensation of the affected limb and the recovery of muscle strength, tumour recurrence and fracture healing.Results:In the operation, it was found that there was still a little glial-like tissue in the nerve sheath after complete dissection of the tumours in 2 patients. Postoperative pathological examination reported that there were 4 schwannoma, 1 malignant peripheral schwannoma and 1 neurolipoma. The postoperative follow-up lasted for 6 to 34 months, with an average of 12.8 months. All patients showed no symptoms of brachial plexus injury or tumour recurrence. The clinical symptoms were relieved or disappeared. The neurological function evaluation reached grade III in 5 patients and grade IV in 1 case. At the same time, the internal fixation of the clavicle was satisfactory and achieved bone union in all cases. Fracture healing time was 2.5 to 4.5 months, with an average of 3.2 months. The internal fixation was removed from 3 patients after operation in 1 year. No obvious limb movement disorder and periarthritis of shoulder and other complications occurred.Conclusion:The transclavicular osteotomy approach with the pedicle of the pectoralis major can fully expose the anatomical alignment of the brachial plexus and the relationship adjacent and between the tumour and the surrounding tissues in the surgery for a brachial plexus tumour behind the clavicle, which is helpful for a complete tumour resection. It is a feasible method to treat brachial plexus tumour behind the clavicle by finding residual tumour-like tissue, reducing the risk of surgery and tumour recurrence, and providing excellent blood supply to the osteotomy segment of the clavicle to promote fracture healing.

OBJECTIVE: To validate a fetus with high risk for trisomy 13 suggested by non-invasive prenatal testing (NIPT). METHODS: The fetus was selected as the study subject after the NIPT detection at Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences on February 18, 2019. Clinical data of the pregnant woman was collected. Fluorescence in situ hybridization (FISH), chromosomal karyotyping analysis and chromosomal microarray analysis (CMA) were carried out on amniotic fluid and umbilical cord blood and the couple's peripheral blood samples. Copy number variation sequencing (CNV-seq) was also performed on the placental and amniotic fluid samples following induced labor. RESULTS: The pregnant woman, a 38-year-old G4P1 gravida, was found to have abnormal fetal development by prenatal ultrasonography. NIPT test suggested that the fetus has a high risk for trisomy 13. Chromosomal karyotyping analysis of fetal amniotic fluid and umbilical cord blood were 46,XN,add(13)(p10). The result of CMA was arr[hg19]1q41q44(223937972_249224684)×3, with the size of the repeat fragment being approximately 25.29 Mb, the fetal karyotype was thereby revised as 46,XN,der(13)t(1;13)(q41;p10). Chromosomal karyotyping analysis and CMA of the parents' peripheral blood samples showed no obvious abnormality. The CNV-seq analysis of induced placenta revealed mosaicisms of normal karyotype and trisomy 13. The CNV-seq test of induced amniotic fluid confirmed a duplication of chr1:22446001_249220000 region spanning approximately 24.75 Mb, which was in keeping with the CMA results of amniotic fluid and umbilical cord blood samples. CONCLUSION NIPT may yield false positive result due to placenta mosaicism. Invasive prenatal diagnosis should be recommended to women with a high risk by NIPT test. And analysis of placenta can explain the inconsistency between the results of NIPT and invasive prenatal diagnosis.
Humans ; Female ; Pregnancy ; Trisomy 13 Syndrome/genetics* ; DNA Copy Number Variations ; Placenta ; Chromosomes, Human, Pair 1 ; In Situ Hybridization, Fluorescence ; Prenatal Diagnosis/methods* ; Fetus ; Amniotic Fluid ; Chromosome Aberrations ; Trisomy/genetics*