Detecting fetal subchromosomal aberrations by MPS: an unexpected discrepancy between amniocyte DNA and ccffDNA

K Buysse; J de Ligt; IM Janssen; BWM van Bon; I Gomes; J Hehir-Kwa; Alex Eggink; JMG Vugt; LELM Vissers; AG van Kessel; BHW Faas

doi:10.1002/pd.4312

Detecting fetal subchromosomal aberrations by MPS: an unexpected discrepancy between amniocyte DNA and ccffDNA

K Buysse, J de Ligt, IM Janssen, BWM van Bon, I Gomes, J Hehir-Kwa, Alex Eggink, JMG Vugt, LELM Vissers, AG van Kessel, BHW Faas

Obstetrics & Gynecology

Research output: Contribution to journal › Article › Academic › peer-review

2 Citations (Scopus)

Abstract

What's already known about this topic? Noninvasive prenatal detection of fetal aneuploidies by massively parallel sequencing of circulating cell-free fetal DNA has recently become widely available. Few studies report the detection of submicroscopic chromosomal aberrations. What does this study add? A ~400 kb gain and a ~27 Mb loss were detected on chromosome 13q by genomic microarray analysis of amniocyte DNA. Testing circulating cell-free fetal DNA not only revealed the same loss but also a much larger gain (~12 Mb), indicating discrepancies between DNA of true fetal and placental origin. The use of a windowed approach is recommended in case of unexpected 'whole chromosome' noninvasive prenatal testing results and/or when fetal anomalies are suggestive for subchromosomal aberrations.

Original language	Undefined/Unknown
Pages (from-to)	402-405
Number of pages	4
Journal	Prenatal Diagnosis
Volume	34
Issue number	4
DOIs	https://doi.org/10.1002/pd.4312
Publication status	Published - 2014

Research programs

EMC MGC-02-52-01-A

Access to Document

10.1002/pd.4312

http://hdl.handle.net/1765/52104

Cite this

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title = "Detecting fetal subchromosomal aberrations by MPS: an unexpected discrepancy between amniocyte DNA and ccffDNA",

abstract = "What's already known about this topic? Noninvasive prenatal detection of fetal aneuploidies by massively parallel sequencing of circulating cell-free fetal DNA has recently become widely available. Few studies report the detection of submicroscopic chromosomal aberrations. What does this study add? A \textasciitilde{}400 kb gain and a \textasciitilde{}27 Mb loss were detected on chromosome 13q by genomic microarray analysis of amniocyte DNA. Testing circulating cell-free fetal DNA not only revealed the same loss but also a much larger gain (\textasciitilde{}12 Mb), indicating discrepancies between DNA of true fetal and placental origin. The use of a windowed approach is recommended in case of unexpected 'whole chromosome' noninvasive prenatal testing results and/or when fetal anomalies are suggestive for subchromosomal aberrations.",

author = "K Buysse and \{de Ligt\}, J and IM Janssen and \{van Bon\}, BWM and I Gomes and J Hehir-Kwa and Alex Eggink and JMG Vugt and LELM Vissers and \{van Kessel\}, AG and BHW Faas",

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AU - Buysse, K

AU - de Ligt, J

AU - Janssen, IM

AU - van Bon, BWM

AU - Gomes, I

AU - Hehir-Kwa, J

AU - Eggink, Alex

AU - Vugt, JMG

AU - Vissers, LELM

AU - van Kessel, AG

AU - Faas, BHW

PY - 2014

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N2 - What's already known about this topic? Noninvasive prenatal detection of fetal aneuploidies by massively parallel sequencing of circulating cell-free fetal DNA has recently become widely available. Few studies report the detection of submicroscopic chromosomal aberrations. What does this study add? A ~400 kb gain and a ~27 Mb loss were detected on chromosome 13q by genomic microarray analysis of amniocyte DNA. Testing circulating cell-free fetal DNA not only revealed the same loss but also a much larger gain (~12 Mb), indicating discrepancies between DNA of true fetal and placental origin. The use of a windowed approach is recommended in case of unexpected 'whole chromosome' noninvasive prenatal testing results and/or when fetal anomalies are suggestive for subchromosomal aberrations.

AB - What's already known about this topic? Noninvasive prenatal detection of fetal aneuploidies by massively parallel sequencing of circulating cell-free fetal DNA has recently become widely available. Few studies report the detection of submicroscopic chromosomal aberrations. What does this study add? A ~400 kb gain and a ~27 Mb loss were detected on chromosome 13q by genomic microarray analysis of amniocyte DNA. Testing circulating cell-free fetal DNA not only revealed the same loss but also a much larger gain (~12 Mb), indicating discrepancies between DNA of true fetal and placental origin. The use of a windowed approach is recommended in case of unexpected 'whole chromosome' noninvasive prenatal testing results and/or when fetal anomalies are suggestive for subchromosomal aberrations.

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DO - 10.1002/pd.4312

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