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A NEW APPROACH TO GENE diagnosis OF DUCHENNE/BECKER MUSCULAR DYSTROPHY──AMPLIFIED FRAGMENT LENGTH POLYMORPHISM

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Chinese Medical Sciences Journal 1994年第3期9卷 137-142页

作者：许顺斌黄尚志罗会元 Department of Medical Genetics CAMS & PUMC Beijing.

Four (CA)n repeats, located in introns 44, 45, 49 and 50 of the dystrophin gene., were evaluated in Chinese. These loci are highly polymorphic, with polymorphism information contents of 0. 872, 0. 772, 0. 870 and 0. 718, respectively. All four loci can be easily amplified and labelled using two duplex PCR reactions with α-32P-dCTP and can be detected by denaturing polyacrylamide gel electrophoresis. Using these four loci and the two polymorphic (CA)n repeats located at the 5' and 3' ends of the dystrophin gene, we have developed a new PCR-based procedure -Amp-FLP (amplified fragment length polymorphism) linkage analysis for the gene diagnosis of DMD/BMD. This method can detect intragenic recombination rapidly and efficiently and greatly. improves the success rate of carrier detection and prenatal diagnosis in non-deletion DMD/BMD families. All of the loci used in this procedure are intragenic. In addition, the loci in introns 44. 45, 49 and 50 are located in the deletion-prone region of the dystrophin gene, making them valuable and useful in the identification of deletion mutations. Here we report one case of deletion detection using these four loci.

关键词： muscular dystrophy amp-FLP linkage analysis carrier detection prenatal diagnosis

Relationship Between Gene-Phenotype and Clinical Manifestations of Chromosomal Copy Number Variations Indicated by Non-Invasive prenatal Testing

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Journal of Clinical and Nursing Research 2024年第1期8卷 88-95页

作者： Zixin Pi Xiaoyan Duan Jing Peng Yanhui Liu The First People’s Hospital of Jiangxia District Wuhan City(Union Jiangnan Hospital Huazhong University of Science and Technology)Wuhan 430200Hubei ProvinceChina Department of Reproductive Medicine Luohu HospitalShenzhenShenzhen 518005Guangdong ProvinceChina

Objective:To analyze the clinical value of non-invasive prenatal testing(NIPT)in detecting chromosomal copy number variations(CNVs)and to explore the relationship between gene expression and clinical manifestations of chromosomal copy number ***:3551 naturally conceived singleton pregnant women who underwent NIPT were included in this *** NIPT revealed abnormalities other than sex chromosome abnormalities and trisomy 13,18,and *** women with chromosome copy number variations underwent genetic counseling and prenatal ultrasound *** prenatal diagnosis and chromosome microarray analysis(CMA)were *** clinical phenotypes and pregnancy outcomes of different prenatal diagnoses were ***,a follow-up was conducted by telephone to track fetal development after birth,at six months,and one year ***:A total of 53 cases among 3551 cases showed chromosomal copy number *** prenatal diagnosis was performed in 36 cases:27 cases were negative and 8 were consistent with the NIPT test *** indicates that NIPT’s positive predictive value(PPV)in CNVs is 22.22%.Conclusion:NIPT has certain clinical significance in screening chromosome copy number variations and is expected to become a routine screening for chromosomal microdeletions and ***,further interventional prenatal diagnosis is still needed to identify fetal CNVs.

关键词： Non-invasive prenatal testing Chromosomal copy number variation Chromosomes 1 and 3 Chromosome 4 Chromosome 7 Chromosome 15 prenatal diagnosis

Blended Phenotypes From a SERPINA 11 Pathogenic Variant Over Underlying Immune Fetal Hydrops: A Rare Case Report and Literature Review

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Maternal-Fetal Medicine 2024年第4期6卷 257-261页

作者： Manisha M.Beck Noel D.Luke Reena Sakte Anand Preethi Navaneethan Rekha Athiyarath Sumita Danda Fetal Medicine Unit Department of Obstetrics and GynecologyChristian Medical College and HospitalVelloreTamil Nadu 632004India Department of Medical Genetics Christian Medical College and HospitalVelloreTamil Nadu 632004India.

Fetal hydrops can stem from immune or nonimmune *** causes often involve red cell alloimmunization,whereas nonimmune causes encompass structural malformations,aneuploidy,infections,lymphatic system disorders,genetic syndromes,and *** a rare and complex case,we encountered a fetal hydrops presentation characterized by blended phenotypes,indicating both a genetic and an underlying immune *** mother,Rhesus negative,presented with a history of adverse obstetric *** 21 weeks,the current fetus was diagnosed with *** blood tests unveiled Rhesus alloimmunization,featuring a positive indirect Coombs test at a 1:512 dilution and the presence of anti-D,anti-C,and anti-E *** blood sampling revealed an O-positive blood group with a hemoglobin level of 10 gm/*** administering intrauterine transfusion to the fetus,there was no improvement;instead,the fetal hydrops worsened,accompanied by the emergence of nuchal and axillary *** sequencing of fetal DNA revealed the fetus was homozygous for a pathogenic variant in the SERPINA11 gene and compound heterozygous for a pathogenic variant in the PIEZO1 ***,the combination of pathogenic variants in SERPINA11 and PIEZO1 genes has not been described in cases of fetal hydrops *** case posed significant challenges in management due to the concurrent presence of both immune and nonimmune *** describe some of the diagnostic challenges faced in clinical management of this case.

关键词： Fetal chylothorax SERPINA11 gene Rhesus alloimmunization Fetal hydrops prenatal diagnosis Blended phenotypes

Integrated analysis of comorbidity, pregnant outcomes, and amniotic fluid cytogenetics of fetuses with persistent left superior vena cava

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World Journal of Cardiology 2023年第10期15卷 500-507页

作者： Xin Yang Xin-Hui Su Zhen Zeng Yao Fan Yuan Wu Li-Li Guo Xiao-Yan Xu Department of Obstetrics and Gynecology Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030Hubei ProvinceChina

BACKGROUND Persistent left superior vena cava(PLSVC)is the most common venous system *** clinical characteristics and amniotic fluid cytogenetics of fetuses with PLSVC remain to be further *** To develop reliable prenatal diagnostic recommendations through integrated analysis of the clinical characteristics of fetuses with *** Cases of PLSVC diagnosed using prenatal ultrasonography between September 2019 and November 2022 were retrospectively *** clinical characteristics of the pregnant women,ultrasonic imaging information,gestational age at diagnosis,pregnancy outcomes,and amniocentesis results were summarized and analyzed using categorical statistics and the chi-square test or Fisher’s exact *** Of the 97 cases diagnosed by prenatal ultrasound,49(50.5%)had isolated PLSVC and 48(49.5%)had other structural *** differences in pregnancy outcomes and amniocentesis conditions between the two groups were statistically significant(P0.05).According to the results of the classification statistics,the most common intrac-ardiac abnormality was a ventricular septal defect and the most common extrac-ardiac abnormality was a single umbilical *** the subgroup analysis,the concurrent combination of intra-and extracardiac structural abnormalities was a risk factor for adverse pregnancy outcomes(odds ratio>1,P<0.05).Additional-ly,all abnormal cytogenetic findings on amniocentesis were observed in the comorbidity *** case was diagnosed with 21-trisomy and six cases was diagnosed with chromosome segment *** Examination for other structural abnormalities is strongly recommended when PLSVC is *** pregnancy outcomes and increased amniocentesis were observed in PLSVC cases with other structural *** fluid cytogenetics of fetuses is recommended

关键词： Persistent left superior vena cava prenatal diagnosis Amniotic fluid cytogenetics Pregnancy outcome Integrated analysis Comorbidity

prenatal Testing or Screening?

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Maternal-Fetal Medicine 2020年第4期2卷 217-222页

作者： Evans Mark I. Evans Shara M. Fetal Medicine Foundation of America New YorkNY 10065USA Comprehensive Genetics New YorkNY 10065USA Department of Obstetrics&Gynecology Icahn School of Medicine at Mt.SinaiNew YorkNY 10029USA Department of Maternal Child Health Gillings School of Public Health University of North Carolina at Chapel HillChapel HillNY 27599USA

Over the past 50 years,the scope and extent of prenatal diagnosis and screening for genetic disorders have improved *** has been a pendulum like swing from testing to screening back and forth as new technologies *** concurrent developments of cell free fetal DNA analysis of maternal blood has dramatically changed patient’s choices towards ***,with the use of array comparative genomic hybridization of fetal DNA that requires diagnostic procedures(Chorionic villus sampling and amniocentesis),much more extensive diagnosis can be *** noninvasive methods can replicate what can be done with diagnostic procedures there still will be a"price to be paid"for opting for the non-invasive methods.

关键词： Genetic counseling prenatal diagnosis Chorionic villus sampling Amniocentesis Array comparative genomic hybridization Noninvasive prenatal testing

Antenatal diagnosis and Outcome of 12 Congenital Cystic Adenomatoid Malformation of Lung

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Journal of Reproduction and Contraception 2007年第4期18卷 289-295页

作者： Xue-lian LI Yu-qing ZHOU Jue-hua ZHANG Ying-liu YAN Xiao-tian LI Obstetrics Department the Obstetrics ＆ Gynecology Hospital of FudanUniversity Shanghai 200011 China Ultrasonography Department the Obstetrics ＆ Gynecology Hospital of FudanUniversity Shanghai 200011 China

Objective To investigate the ultrasonic detection probability, type, prenatal diagnosis, and outcome of congenital cystic adenomatoid malformation of lung （CCAM）. Methods In this retrospective study, all 12 cases which were diagnosed with suspected prenatal CC,4M over the period in the hospital were analyzed. Information on diagnosis time, types and progression of the lesions during pregnancy, the additional abnormalities, and the outcome of pregnancies were recorded.Results The positive rate of ultrasonic detection of CCAM was about 1.01‰ （1/11 124） before 28 gestation weeks. There were 1 case of type Ⅰ （8%）, 2 cases of type Ⅱ （17%） and 9 cases of type Ⅲ （75%）. Nine pregnancies were terminated and 2 cases were confirmed by pathology. Three neonates were alive and without any symptom now. Conclusions Type Ⅲ is the major type. Ultrasound examination during 20-28 weeks and following up, prenatal consultation, chromosome examination offetus, delivery with a pediatrician standing by, and all suspected neonates being investigated are recommended.

关键词： congenital cystic adenomatoid malformation of lung ultrasonic detection type prenatal diagnosis outcome

prenatal diagnosed caudal regression syndrome

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Open Journal of Obstetrics and Gynecology 2013年第2期3卷 227-231页

作者： Osman Temizkan Faruk Abike Habibe Ayvaci Ali Yilmaz Ersan Demirag Ilhan Sanverdi Department of Obstetrics and Gynecology Sisli Etfal Education and Research HospitalIstanbulTurkey Department of Obstetrics and Gynecology Florence Nightingale Kadikoy HospitalIstanbulTurkey Department of Obstetrics and Gynecology Zeynep Kamil HospitalIstanbulTurkey Department of Obstetrics and Gynecology Haydarpasa GATA HospitalIstanbulTurkey

Background: Caudal regression syndrome (CRS) is a rare complex congenital anomaly which is characterized by agenesis of the sacral and lumbar spine. Pelvis, lower extremity, genitourinary, cardiac anomalies and lower extremity neurological and motor development deficits may be accompanied. The exact etiology is unclear but the maternal insulindependent diabetes mellitus (hyperglycaemia during embryogenesis seems to act as a teratogen), genetic factors, vascular hypoperfusion may play a role in the etiology. Case: A 41-year-old gravida 4, para 2, live 1, abortus 1 patient with 35 weeks of gestation. The patient had 12-year history of type 1 diabetes mellitus. In ultrasonographic examination we found the length of the bones (all the upper and lower bones) 8 weeks underdeveloped and didn’t observe the lumbar, sacral vertebrae and iliac bones. Lower extremities were crossed in froglike position, there wasn’t lower extremity movements. Due to sacral agenesia the head of the femurs were closer. Also pes equinovarum deformity, single umbilical artery, kidneys in contact at the midline were present. All of these findings indicated the diagnosis of caudal regression syndrome. Conclusion: Diabetes is increased fetal anomalities in pregnancy. Diabetic pregnancy should be more evaluated than pregnancies with no risk. Antenatal care should be done more carefully. Especially, prenatal maternal blood glucose levels and HbA1cis most important for prevention of fetal anomalities.

关键词： Caudal Regression Syndrome prenatal diagnosis Diabetes Sacral Agenesis

Positive Rate of Noninvasive prenatal Screening for Pregnancies with Fetal Congenital Heart Disease and Its Impact on Pregnancy Outcome

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Maternal-Fetal Medicine 2020年第2期2卷 84-88页

作者： Yun Chen Yun-Li Lai Yi-Ping Shen Xiao-Xian Tian Chen-Guang Zheng Hong-Wei Wei Genetic and Metabolic Central Laboratory Maternal and Child Health Hospital of Guangxi Zhuang Autonomous RegionGuangxi 530000China Department of Laboratory Medicine Department of PathologyBoston Children's HospitalHarvard Medical SchoolBoston MA 02118United States.

Objective::To evaluate the clinical utility of noninvasive prenatal screening(NIPS)for fetuses with congenital heart disease(CHD)and impact of NIPS results on pregnancy ***::This was a retrospective study of pregnant women with fetuses diagnosed with CHDs by sonographic examination,who willing to underwent NIPS as a side-test for fetal *** August 2016 to October 2017,in the sonographic examination center of Maternal and Child Health Hospital of Guangxi Zhuang Autonomous *** was offered to 117 women,19-32 years old,who carried fetuses with CHD diagnosed by fetal ultrasound(mean gestational age=24 weeks).The pregnancy outcomes were ***::NIPS positive rate in our pregnancies with CHD fetuses’cohort was 11.1%(13/117),and the positive predictive value for aneuploidies is 85.7%(6/7).In the NIPS positive group(n=13),all pregnancies terminated,76.9%(10/13)of those decisions were made on ultrasound finding *** the NIPS negative group(n=104),2 lost follow-up,79 pregnancies terminated,among which 77.2%(61/79)of the decision was made by ultrasound results ***-three pregnancies continued and 78.3%of those fetuses carried single type *** terminated pregnancies that did not considered NIPS results(71/115),73.2%(52/71)of those carried fetuses with two or more types of ***::NIPS can detect common aneuploidy associated with CHD with high positive predictive value and screening *** NIPS result played certain meaningful roles in determining pregnancy outcomes,particularly for fetus with simplex CHD;yet the parents’decision of pregnancy was mainly made based on ultrasound findings.

关键词： Heart defects,congenital prenatal diagnosis Aneuploidy Pregnancy outcome

Rapid detection of chromosome 18 aneuploidies in amniocytes by using primed in situ labeling （PRINS） technique

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Journal of Zhejiang University Science 2002年第5期3卷 617-621页

作者：杨建滨郑树 CancerInstitute SecondAffiliatedHospitalCollegeofMedicaineZhejiangUniversityHangzhou310009China CancerInstitute SecondAffiliatedHospitalCollegeofMedicaineZhejiangUniversityHangzho

This paper presents a feasible method for rapid detection of the interphase nuclei of uncultured amniocytes for chromosomes 18 by using our modified primed in situ labeling (PRINS) technique. A total of 262 independent, uncultured amniotic fluid samples were analysed in a blind fashion before the karyotype was available. In addition, 62 samples were examined by fluorescence in situ hybridization (FISH) for comparison. In more than 95% of the samples PRINS reactions with primer 18cen were successfully induced. Two samples were properly identified and correctly scored as trisomic 18. PRINS reaction could be performed automatically in less than one hour with a programmable thermocycler. Our studies showed that the PRINS technique is simple, rapid and cost effective. It is as sensitive and specific as FISH; can enhance the accuracy of standard cytogenetic analysis; and allows identification of chromosomes 18 aneuploidies in uncultured amniocytes in significantly less time.

关键词： Primed in situ labeling (PRINS) prenatal diagnosis Chromosome 18