Clinical experience with multiplex ligation-dependent probe amplification for microdeletion syndromes in prenatal diagnosis: 7522 pregnant Korean women View Full Text


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Article Info

DATE

2019-12

AUTHORS

Dongsook Lee, Sohyun Na, Surim Park, Sanghee Go, Jinyoung Ma, Soonha Yang, Kichul Kim, Seunggwan Lee, Doyeong Hwang

ABSTRACT

Background: Conventional cytogenetic analysis using G-band karyotyping has been the method of choice for prenatal diagnosis, accurately detecting chromosomal abnormalities larger than 5 Mb. However, the method is inefficient for detecting the submicroscopic deletions and duplications that are associated with malformations and mental retardation. This study evaluated the results of the multiplex ligation-dependent probe amplification (MLPA) P245 assay used for prenatal diagnosis in cases with unusual ultrasonographic findings or specifically where parents wanted to be tested. The objective was to compare the results from MLPA with those from conventional cytogenetic testing in order to determine their concordance and the additional diagnostic yield of MLPA over G-band karyotyping. Results: Of the 7522 prenatal cases analyzed, 124 were found to have genomic imbalances (1.6%). Of those 124 cases, 41 had gene loss (33.6%), and 83 had gene gain (66.4%). Most of the cases with genomic imbalances (64.5%) showed no abnormal karyotype. In particular, all cases with a 4p16.3 deletion (Wolf-Hirschhorn syndrome) showed an abnormal karyotype, whereas all of those with a 22q11-13 deletion showed a normal karyotype. In most of the cases with pathogenic deletions, the indication for invasive prenatal testing was an increase in the nuchal translucency (NT) alone (51.2%). Other indications observed in the remaining cases were abnormal serum screening markers (14.6%), other ultrasonographic findings (9.8%), pregnancy through in vitro fertilization and fertility assistance (9.8%), and advanced maternal age(2.4%). Conclusions: These results show that for fetuses with an enlarged NT or abnormal ultrasonographic findings and normal conventional karyotype, additional genetic investigation like molecular testing would be for identifying the microscopic genomic aberrations (microdeletions, microduplications) responsible for syndromic associations including structural anomalies and mental retardation. More... »

PAGES

10

References to SciGraph publications

  • 2016-12. Complex intrachromosomal rearrangement in 1q leading to 1q32.2 microdeletion: a potential role of SRGAP2 in the gyrification of cerebral cortex in MOLECULAR CYTOGENETICS
  • 2011-12. Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2010-12. 8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families in MOLECULAR CYTOGENETICS
  • 2016-12. A de novo duplication of chromosome 9q34.13-qter in a fetus with Tetralogy of Fallot Syndrome in MOLECULAR CYTOGENETICS
  • 2016-12. Enlarged NT (≥3.5 mm) in the first trimester – not all chromosome aberrations can be detected by NIPT in MOLECULAR CYTOGENETICS
  • 2014-12. Multiplex ligation-dependent probe amplification and array comparative genomic hybridization analyses for prenatal diagnosis of cytogenomic abnormalities in MOLECULAR CYTOGENETICS
  • 2015-12. A novel 11p13 microdeletion encompassing PAX6 in a Chinese Han family with aniridia, ptosis and mental retardation in MOLECULAR CYTOGENETICS
  • 2012-12. Array comparative genomic hybridization in prenatal diagnosis of first trimester pregnancies at high risk for chromosomal anomalies in MOLECULAR CYTOGENETICS
  • 2010-12. Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations in MOLECULAR CYTOGENETICS
  • 2015-09. Chromosome microduplication in somatic cells decreases the genetic stability of human reprogrammed somatic cells and results in pluripotent stem cells in SCIENTIFIC REPORTS
  • 2015-12. Analysis of chromosome 22q11 copy number variations by multiplex ligation-dependent probe amplification for prenatal diagnosis of congenital heart defect in MOLECULAR CYTOGENETICS
  • Journal

    TITLE

    Molecular Cytogenetics

    ISSUE

    1

    VOLUME

    12

    Author Affiliations

    Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1186/s13039-019-0422-8

    DOI

    http://dx.doi.org/10.1186/s13039-019-0422-8

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1112396809

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/30891099


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