Literature DB >> 24949092

Cytogenetic microarray in prenatal and postnatal diagnosis.

Shubha Phadke1.   

Abstract

Entities:  

Year:  2014        PMID: 24949092      PMCID: PMC4044556          DOI: 10.1186/1755-8166-7-S1-I32

Source DB:  PubMed          Journal:  Mol Cytogenet        ISSN: 1755-8166            Impact factor:   2.009


× No keyword cloud information.

Due to high resolution cytogenetic microarray (CMA) has replaced traditional karyotyping for evaluation of individuals with intellectual disability, autism and congenital malformations. The diagnostic yield of CMA is 10 to 12 % and is more than any other investigation for evaluation of developmental disabilities. Due to its high resolution CMA is also being used as a prenatal test for chromosomal anomalies. The diagnostic yield is about 3% whatever may be the indication. The yield is higher in cases with fetal anomalies. The main concern with CMA is its ability detection of copy number variations of unknown significance. This is a major problem in prenatal diagnosis and is a challenge for the counselor and dilemma for the family in concern. With accumulation of more and more data of pathological and polymorphic variations in genome the variations of unknown significance will decrease. CMA is also useful in delineating abnormalities picked up by karyotyping. Some cases with double segment rearrangement may point towards familial chromosomal rearrangement and hence, CMA is indicated in familial cases with developmental disabilities and birth defects. Cost and availability of clinical cytogeneticists for appropriate interpretation of CMA results are important concerns for wider application of the technique.
  3 in total

1.  Communicating microarray results of uncertain clinical significance in consultation summary letters and implications for practice.

Authors:  Jean Lillian Paul; Rachel Pope-Couston; Samantha Wake; Trent Burgess; Tiong Yang Tan
Journal:  Eur J Hum Genet       Date:  2016-11-16       Impact factor: 4.246

2.  Prenatal diagnosis of a maternal 7.22-Mb deletion at chromosome 4q32.2q32.3 by SNP array.

Authors:  Pingping Zhang; Yanmei Sun; Ping Huo; Haishen Tian; Jian Gao; Yali Li
Journal:  Mol Cytogenet       Date:  2020-04-10       Impact factor: 2.009

Review 3.  Cytogenetic and molecular diagnostic testing associated with prenatal and postnatal birth defects.

Authors:  Stela Z Berisha; Shashi Shetty; Thomas W Prior; Anna L Mitchell
Journal:  Birth Defects Res       Date:  2020-03-01       Impact factor: 2.661

  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.