Please wait, while we are loading the content...
Please wait, while we are loading the content...
| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Wang, Shaowei Huang, Shuai Ma, Linlin Liang, Lin Zhang, Junrong Zhang, Jianguang Cram, David S. |
| Description | Author Affiliation: Wang S ( The Obstetrics and Gynecology Department of Beijing Hospital, No. 1, Dahua Road, Dongdan, Dongcheng District, Beijing 100730, China. Electronic address: w-sw999@sohu.com.); Huang S ( The Obstetrics and Gynecology Department of Beijing Hospital, No. 1, Dahua Road, Dongdan, Dongcheng District, Beijing 100730, China.); Ma L ( The Obstetrics and Gynecology Department of Beijing Hospital, No. 1, Dahua Road, Dongdan, Dongcheng District, Beijing 100730, China.); Liang L ( The Obstetrics and Gynecology Department of Beijing Hospital, No. 1, Dahua Road, Dongdan, Dongcheng District, Beijing 100730, China.); Zhang J ( The Obstetrics and Gynecology Department of Beijing Hospital, No. 1, Dahua Road, Dongdan, Dongcheng District, Beijing 100730, China.); Zhang J ( Berry Genomics Co., Ltd, Building 9, No 6 Court Jingshun East Road, Chaoyang District, Beijing 100015, China.); Cram DS ( Berry Genomics Co., Ltd, Building 9, No 6 Court Jingshun East Road, Chaoyang District, Beijing 100015, China. Electronic address: david.cram@berrygenomics.com.) |
| Abstract | BACKGROUND: The sensitivity and specificity of noninvasive prenatal testing (NIPT) for detection of sex chromosome aneuploidies (SCAs) compared to common autosomal trisomies are significantly lower. We speculated that in addition to altered maternal X chromosome karyotype, maternal X chromosome copy number variations (CNVs) may also contribute to discordant NIPT SCA results. METHODS: Clinical NIPT was performed for pregnant women at a single hospital. Copy number variation sequencing (CNV-Seq) was used to identify and quantitate the copy number of maternal X chromosome CNVs for each positive SCA pregnancy. RESULTS: Two out of 25 SCA positive NIPT samples had slightly abnormal ChrX/ChrY z-scores and were referred for invasive test confirmation. However, fetal karyotypes were found to be normal. CNV-Seq analysis of the maternal white blood cell DNA archived from the original two NIPT blood samples identified small CNVs spanning the STS gene, which is associated with X-linked ichthyosis. Correcting for the altered plasma levels of X chromosome DNA caused by the two CNVs and, taking into consideration the phenotypic consequences for X-linked disease, both fetuses were diagnosed as normal. CONCLUSIONS: Maternal DNA sequencing is recommended for all positive NIPT SCA results to avoid unnecessary referral for invasive testing and also to evaluate the risk to the fetus of X-linked disease. |
| File Format | HTM / HTML |
| ISSN | 00098981 |
| Volume Number | 444 |
| e-ISSN | 18733492 |
| Journal | Clinica Chimica Acta |
| Language | English |
| Publisher | Elsevier |
| Publisher Date | 2015-04-15 |
| Publisher Place | Netherlands |
| Access Restriction | One Nation One Subscription (ONOS) |
| Subject Keyword | Discipline Clinical Chemistry Discipline Laboratory Medicine Aneuploidy Chromosomes, Human, X Genetics Dna Copy Number Variations Prenatal Diagnosis Sex Chromosome Disorders Female Humans Male Pregnancy Journal Article Research Support, Non-u.s. Gov't |
| Content Type | Text |
| Resource Type | Article |
| Subject | Biochemistry (medical) Clinical Biochemistry Biochemistry |
National Digital Library of India (NDLI) is a virtual repository of learning resources which is not just a repository with search/browse facilities but provides a host of services for the learner community. It is sponsored and mentored by Ministry of Education, Government of India, through its National Mission on Education through Information and Communication Technology (NMEICT). Filtered and federated searching is employed to facilitate focused searching so that learners can find the right resource with least effort and in minimum time. NDLI provides user group-specific services such as Examination Preparatory for School and College students and job aspirants. Services for Researchers and general learners are also provided. NDLI is designed to hold content of any language and provides interface support for 10 most widely used Indian languages. It is built to provide support for all academic levels including researchers and life-long learners, all disciplines, all popular forms of access devices and differently-abled learners. It is designed to enable people to learn and prepare from best practices from all over the world and to facilitate researchers to perform inter-linked exploration from multiple sources. It is developed, operated and maintained from Indian Institute of Technology Kharagpur.
Learn more about this project from here.
NDLI is a conglomeration of freely available or institutionally contributed or donated or publisher managed contents. Almost all these contents are hosted and accessed from respective sources. The responsibility for authenticity, relevance, completeness, accuracy, reliability and suitability of these contents rests with the respective organization and NDLI has no responsibility or liability for these. Every effort is made to keep the NDLI portal up and running smoothly unless there are some unavoidable technical issues.
Ministry of Education, through its National Mission on Education through Information and Communication Technology (NMEICT), has sponsored and funded the National Digital Library of India (NDLI) project.
| Sl. | Authority | Responsibilities | Communication Details |
|---|---|---|---|
| 1 | Ministry of Education (GoI), Department of Higher Education |
Sanctioning Authority | https://www.education.gov.in/ict-initiatives |
| 2 | Indian Institute of Technology Kharagpur | Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project | https://www.iitkgp.ac.in |
| 3 | National Digital Library of India Office, Indian Institute of Technology Kharagpur | The administrative and infrastructural headquarters of the project | Dr. B. Sutradhar bsutra@ndl.gov.in |
| 4 | Project PI / Joint PI | Principal Investigator and Joint Principal Investigators of the project |
Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon |
| 5 | Website/Portal (Helpdesk) | Queries regarding NDLI and its services | support@ndl.gov.in |
| 6 | Contents and Copyright Issues | Queries related to content curation and copyright issues | content@ndl.gov.in |
| 7 | National Digital Library of India Club (NDLI Club) | Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach | clubsupport@ndl.gov.in |
| 8 | Digital Preservation Centre (DPC) | Assistance with digitizing and archiving copyright-free printed books | dpc@ndl.gov.in |
| 9 | IDR Setup or Support | Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops | idr@ndl.gov.in |
|
Loading...
|