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Trisomy 21/mosaic Turner detected in fetus by non-invasive prenatal testing. / Fieremans, Nathalie; Fieuw, Annelies; Janssen, Toon; Staessen, Catherine; Caljon, Ben; Croes, Didier; Daneels, Dorien; Keymolen, Kathelijn; Van Berkel, Kim; Bonduelle, Mary-Louise; Van Den Bogaert, Ann; Van Dooren, Sonia.

Trisomy 21/mosaic Turner detected in fetus by non-invasive prenatal testing: Human Genetics Goes Somatic. Belgian Society of Human Genetics, 2017. p. 118-118.

Research output: Chapter in Book/Report/Conference proceedingMeeting abstract (Book)Research

Harvard

Fieremans, N, Fieuw, A, Janssen, T, Staessen, C, Caljon, B, Croes, D, Daneels, D, Keymolen, K, Van Berkel, K, Bonduelle, M-L, Van Den Bogaert, A & Van Dooren, S 2017, Trisomy 21/mosaic Turner detected in fetus by non-invasive prenatal testing. in Trisomy 21/mosaic Turner detected in fetus by non-invasive prenatal testing: Human Genetics Goes Somatic. Belgian Society of Human Genetics, pp. 118-118, 17th annual Belgian Society of Human Genetics meeting, Louvain-la-Neuve, Belgium, 17/02/17.

APA

Fieremans, N., Fieuw, A., Janssen, T., Staessen, C., Caljon, B., Croes, D., ... Van Dooren, S. (2017). Trisomy 21/mosaic Turner detected in fetus by non-invasive prenatal testing. In Trisomy 21/mosaic Turner detected in fetus by non-invasive prenatal testing: Human Genetics Goes Somatic (pp. 118-118). Belgian Society of Human Genetics.

Vancouver

Fieremans N, Fieuw A, Janssen T, Staessen C, Caljon B, Croes D et al. Trisomy 21/mosaic Turner detected in fetus by non-invasive prenatal testing. In Trisomy 21/mosaic Turner detected in fetus by non-invasive prenatal testing: Human Genetics Goes Somatic. Belgian Society of Human Genetics. 2017. p. 118-118

Author

BibTeX

@inbook{cce47fcc053c40e7abf663fa877831b4,
title = "Trisomy 21/mosaic Turner detected in fetus by non-invasive prenatal testing",
abstract = "Non-invasive prenatal testing (NIPT) is a screening method for the early detection of foetal aneuploidies inpregnant women. While originally developed for the detection of trisomy 13, 18 and 21, it is becoming clearthat NIPT can be used for the identification of rare foetal aneuploidies and mosaic aneuploidy as well. Here wedescribe a female foetus with trisomy 21 in combination with mosaicism X0/XX, detected during follow-up ofan abnormal ultrasound (enlarged NT: 3,3 mm). Microarray analysis and FISH on chorion villi cells confirmedtrisomy 21, and mosaicism X0/XX (~29{\%} of cells (n=63)). NIPT convincingly detected the presence of trisomy 21with a Z-score of 22.9. (Partial) monosomy X on NIPT was revealed by the absence of a clear second Xchromosome on the sex plots and the high discrepancy between the foetal fraction of chromosome X and thefoetal fraction of chromosome Y. Likely the high seqFF value (16{\%}) helped to more confidently identify theseaneuploidies. While the debate as to whether or not aneuploidies of the sex chromosomes should be reportedcontinues, this study shows that these aneuploidies can nevertheless be picked up, and probably other raregenetic abnormalities as well.",
author = "Nathalie Fieremans and Annelies Fieuw and Toon Janssen and Catherine Staessen and Ben Caljon and Didier Croes and Dorien Daneels and Kathelijn Keymolen and {Van Berkel}, Kim and Mary-Louise Bonduelle and {Van Den Bogaert}, Ann and {Van Dooren}, Sonia",
year = "2017",
month = "2",
day = "17",
language = "English",
pages = "118--118",
booktitle = "Trisomy 21/mosaic Turner detected in fetus by non-invasive prenatal testing",
publisher = "Belgian Society of Human Genetics",

}

RIS

TY - CHAP

T1 - Trisomy 21/mosaic Turner detected in fetus by non-invasive prenatal testing

AU - Fieremans, Nathalie

AU - Fieuw, Annelies

AU - Janssen, Toon

AU - Staessen, Catherine

AU - Caljon, Ben

AU - Croes, Didier

AU - Daneels, Dorien

AU - Keymolen, Kathelijn

AU - Van Berkel, Kim

AU - Bonduelle, Mary-Louise

AU - Van Den Bogaert, Ann

AU - Van Dooren, Sonia

PY - 2017/2/17

Y1 - 2017/2/17

N2 - Non-invasive prenatal testing (NIPT) is a screening method for the early detection of foetal aneuploidies inpregnant women. While originally developed for the detection of trisomy 13, 18 and 21, it is becoming clearthat NIPT can be used for the identification of rare foetal aneuploidies and mosaic aneuploidy as well. Here wedescribe a female foetus with trisomy 21 in combination with mosaicism X0/XX, detected during follow-up ofan abnormal ultrasound (enlarged NT: 3,3 mm). Microarray analysis and FISH on chorion villi cells confirmedtrisomy 21, and mosaicism X0/XX (~29% of cells (n=63)). NIPT convincingly detected the presence of trisomy 21with a Z-score of 22.9. (Partial) monosomy X on NIPT was revealed by the absence of a clear second Xchromosome on the sex plots and the high discrepancy between the foetal fraction of chromosome X and thefoetal fraction of chromosome Y. Likely the high seqFF value (16%) helped to more confidently identify theseaneuploidies. While the debate as to whether or not aneuploidies of the sex chromosomes should be reportedcontinues, this study shows that these aneuploidies can nevertheless be picked up, and probably other raregenetic abnormalities as well.

AB - Non-invasive prenatal testing (NIPT) is a screening method for the early detection of foetal aneuploidies inpregnant women. While originally developed for the detection of trisomy 13, 18 and 21, it is becoming clearthat NIPT can be used for the identification of rare foetal aneuploidies and mosaic aneuploidy as well. Here wedescribe a female foetus with trisomy 21 in combination with mosaicism X0/XX, detected during follow-up ofan abnormal ultrasound (enlarged NT: 3,3 mm). Microarray analysis and FISH on chorion villi cells confirmedtrisomy 21, and mosaicism X0/XX (~29% of cells (n=63)). NIPT convincingly detected the presence of trisomy 21with a Z-score of 22.9. (Partial) monosomy X on NIPT was revealed by the absence of a clear second Xchromosome on the sex plots and the high discrepancy between the foetal fraction of chromosome X and thefoetal fraction of chromosome Y. Likely the high seqFF value (16%) helped to more confidently identify theseaneuploidies. While the debate as to whether or not aneuploidies of the sex chromosomes should be reportedcontinues, this study shows that these aneuploidies can nevertheless be picked up, and probably other raregenetic abnormalities as well.

UR - http://www.beshg.be/download/meetings/2017_UCL/2017_BeSHG_abstractbook.pdf

M3 - Meeting abstract (Book)

SP - 118

EP - 118

BT - Trisomy 21/mosaic Turner detected in fetus by non-invasive prenatal testing

PB - Belgian Society of Human Genetics

ER -

ID: 30882531