Incidence of uncommon fetal aneuploidies detected by non-invasive prenatal testing

Dardour Leila; Nathalie Brison; Kris Van den Bogaert; Luc Dehaspe; Katrien Janssens; Bettina Blaumeiser; Sonia Van Dooren; Ann Van Den Bogaert; Kathelijn Keymolen; Julie Désir; Mary-Louise Bonduelle; Hilde Peeters; Hilde Van Esch; Thomy de Ravel; Eric Legius; Koen De Vriendt; Joris R. Vermeesch

Samenvatting

Non-invasive prenatal testing (NIPT) enables risk estimation for common fetal autosomal aneuploidies with
high sensitivity and specificity. NIPT by genomic imbalance profiling (GIPseq) offers the unbiased sampling of
cytotrophoblast cells in the maternal blood. Therefore, it allows to detect also uncommon aneuploidies
present in the placenta. To inventorize the frequency of pregnancies with placental aneuploidies and to
correlate those imbalances with fetal growth characteristics, we performed a multicentric cohort analysis. We
included 22.416 pregnant women who were referred for NIPT to three Flemish Centres of Human Genetics
during the past three years. We show uncommon aneuploidies in 71 cases (0.3% of pregnancies) with the
highest incidence for trisomy 7 (16/71), trisomy 16 (14/71) and trisomy 22 (7/71) respectively. Not surprisingly,
we demonstrate that they mostly occur as confined placental mosaicism, since uncommon trisomies are
unviable. We investigate the associated risk for intra-uterine growth retardation. One fetus was found to be
mosaic for trisomy 15 and additionally showed a maternal heterodisomy of chromosome 15, causing Prader-
Willi syndrome. Our study illustrates that detection of uncommon aneuploidies by NIPT can improve pregnancy
management and ultrasound follow-up.

Originele taal-2	English
Titel	17th Annual Meeting of the Belgian Society of Human Genetics
Subtitel	Human Genetics goes Somatic
Uitgeverij	Belgian Society of Human Genetics
Pagina's	100-100
Aantal pagina's	1
Status	Published - 17 feb. 2017
Evenement	17th annual BeSHG meeting: human genetics goes somatic - Louvain-la-Neuve, Aula Magna, Louvain-la-Neuve, Belgium Duur: 17 feb. 2017 → 17 feb. 2017 http://www.beshg.be/index.php?page=program

Conference

Conference	17th annual BeSHG meeting
Land/Regio	Belgium
Stad	Louvain-la-Neuve
Periode	17/02/17 → 17/02/17
Internet adres	http://www.beshg.be/index.php?page=program

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20170217_BeSHG_abstractbookFinal published version, 4,16 MB

17th annual BeSHG meeting
Sonia Van Dooren (Chair), Maryse Bonduelle (Participant), Kathelijn Keymolen (Participant), Marjan De Rademaeker (Participant), Katrien Stouffs (Participant), Martine Biervliet (Participant), Sara Seneca (Participant), Martine De Rycke (Participant), Pieter Verdyck (Participant), Veerle Berckmoes (Participant), Ben Caljon (Participant), Alexander Gheldof (Participant), Dorien Daneels (Participant), Ann Van Den Bogaert (Participant), Annelies Fieuw (Participant), Nathalie Fieremans (Participant), Toon Janssen (Participant), Eva Sammels (Participant), Pascale De Becker (Participant), Ileen Slegers (Participant), Evelien Buyse (Participant), Julie Nekkebroeck (Participant) & A Buysse (Participant)
17 feb. 2017
Activiteit: Participation in conference

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Leila, D., Brison, N., Van den Bogaert, K., Dehaspe, L., Janssens, K., Blaumeiser, B., Van Dooren, S., Van Den Bogaert, A., Keymolen, K., Désir, J., Bonduelle, M.-L., Peeters, H., Van Esch, H., de Ravel, T., Legius, E., De Vriendt, K., & Vermeesch, J. R. (2017). Incidence of uncommon fetal aneuploidies detected by non-invasive prenatal testing. In 17th Annual Meeting of the Belgian Society of Human Genetics: Human Genetics goes Somatic (blz. 100-100). Belgian Society of Human Genetics.

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title = "Incidence of uncommon fetal aneuploidies detected by non-invasive prenatal testing",

abstract = "Non-invasive prenatal testing (NIPT) enables risk estimation for common fetal autosomal aneuploidies withhigh sensitivity and specificity. NIPT by genomic imbalance profiling (GIPseq) offers the unbiased sampling ofcytotrophoblast cells in the maternal blood. Therefore, it allows to detect also uncommon aneuploidiespresent in the placenta. To inventorize the frequency of pregnancies with placental aneuploidies and tocorrelate those imbalances with fetal growth characteristics, we performed a multicentric cohort analysis. Weincluded 22.416 pregnant women who were referred for NIPT to three Flemish Centres of Human Geneticsduring the past three years. We show uncommon aneuploidies in 71 cases (0.3% of pregnancies) with thehighest incidence for trisomy 7 (16/71), trisomy 16 (14/71) and trisomy 22 (7/71) respectively. Not surprisingly,we demonstrate that they mostly occur as confined placental mosaicism, since uncommon trisomies areunviable. We investigate the associated risk for intra-uterine growth retardation. One fetus was found to bemosaic for trisomy 15 and additionally showed a maternal heterodisomy of chromosome 15, causing Prader-Willi syndrome. Our study illustrates that detection of uncommon aneuploidies by NIPT can improve pregnancymanagement and ultrasound follow-up.",

keywords = "Genetics, Somatic",

author = "Dardour Leila and Nathalie Brison and {Van den Bogaert}, Kris and Luc Dehaspe and Katrien Janssens and Bettina Blaumeiser and {Van Dooren}, Sonia and {Van Den Bogaert}, Ann and Kathelijn Keymolen and Julie D{\'e}sir and Mary-Louise Bonduelle and Hilde Peeters and {Van Esch}, Hilde and {de Ravel}, Thomy and Eric Legius and {De Vriendt}, Koen and Vermeesch, {Joris R.}",

year = "2017",

month = feb,

day = "17",

language = "English",

pages = "100--100",

booktitle = "17th Annual Meeting of the Belgian Society of Human Genetics",

publisher = "Belgian Society of Human Genetics",

note = "17th annual Belgian Society of Human Genetics meeting : Human genetics goes somatic ; Conference date: 17-02-2017 Through 17-02-2017",

url = "http://www.beshg.be/index.php?page=program",

}

Leila, D, Brison, N, Van den Bogaert, K, Dehaspe, L, Janssens, K, Blaumeiser, B, Van Dooren, S , Van Den Bogaert, A , Keymolen, K, Désir, J, Bonduelle, M-L, Peeters, H, Van Esch, H, de Ravel, T, Legius, E, De Vriendt, K & Vermeesch, JR 2017, Incidence of uncommon fetal aneuploidies detected by non-invasive prenatal testing. in 17th Annual Meeting of the Belgian Society of Human Genetics: Human Genetics goes Somatic. Belgian Society of Human Genetics, blz. 100-100, 17th annual BeSHG meeting, Louvain-la-Neuve, Belgium, 17/02/17.

TY - CHAP

T1 - Incidence of uncommon fetal aneuploidies detected by non-invasive prenatal testing

AU - Leila, Dardour

AU - Brison, Nathalie

AU - Van den Bogaert, Kris

AU - Dehaspe, Luc

AU - Janssens, Katrien

AU - Blaumeiser, Bettina

AU - Van Dooren, Sonia

AU - Van Den Bogaert, Ann

AU - Keymolen, Kathelijn

AU - Désir, Julie

AU - Bonduelle, Mary-Louise

AU - Peeters, Hilde

AU - Van Esch, Hilde

AU - de Ravel, Thomy

AU - Legius, Eric

AU - De Vriendt, Koen

AU - Vermeesch, Joris R.

PY - 2017/2/17

Y1 - 2017/2/17

N2 - Non-invasive prenatal testing (NIPT) enables risk estimation for common fetal autosomal aneuploidies withhigh sensitivity and specificity. NIPT by genomic imbalance profiling (GIPseq) offers the unbiased sampling ofcytotrophoblast cells in the maternal blood. Therefore, it allows to detect also uncommon aneuploidiespresent in the placenta. To inventorize the frequency of pregnancies with placental aneuploidies and tocorrelate those imbalances with fetal growth characteristics, we performed a multicentric cohort analysis. Weincluded 22.416 pregnant women who were referred for NIPT to three Flemish Centres of Human Geneticsduring the past three years. We show uncommon aneuploidies in 71 cases (0.3% of pregnancies) with thehighest incidence for trisomy 7 (16/71), trisomy 16 (14/71) and trisomy 22 (7/71) respectively. Not surprisingly,we demonstrate that they mostly occur as confined placental mosaicism, since uncommon trisomies areunviable. We investigate the associated risk for intra-uterine growth retardation. One fetus was found to bemosaic for trisomy 15 and additionally showed a maternal heterodisomy of chromosome 15, causing Prader-Willi syndrome. Our study illustrates that detection of uncommon aneuploidies by NIPT can improve pregnancymanagement and ultrasound follow-up.

AB - Non-invasive prenatal testing (NIPT) enables risk estimation for common fetal autosomal aneuploidies withhigh sensitivity and specificity. NIPT by genomic imbalance profiling (GIPseq) offers the unbiased sampling ofcytotrophoblast cells in the maternal blood. Therefore, it allows to detect also uncommon aneuploidiespresent in the placenta. To inventorize the frequency of pregnancies with placental aneuploidies and tocorrelate those imbalances with fetal growth characteristics, we performed a multicentric cohort analysis. Weincluded 22.416 pregnant women who were referred for NIPT to three Flemish Centres of Human Geneticsduring the past three years. We show uncommon aneuploidies in 71 cases (0.3% of pregnancies) with thehighest incidence for trisomy 7 (16/71), trisomy 16 (14/71) and trisomy 22 (7/71) respectively. Not surprisingly,we demonstrate that they mostly occur as confined placental mosaicism, since uncommon trisomies areunviable. We investigate the associated risk for intra-uterine growth retardation. One fetus was found to bemosaic for trisomy 15 and additionally showed a maternal heterodisomy of chromosome 15, causing Prader-Willi syndrome. Our study illustrates that detection of uncommon aneuploidies by NIPT can improve pregnancymanagement and ultrasound follow-up.

KW - Genetics

KW - Somatic

M3 - Meeting abstract (Book)

SP - 100

EP - 100

BT - 17th Annual Meeting of the Belgian Society of Human Genetics

PB - Belgian Society of Human Genetics

T2 - 17th annual Belgian Society of Human Genetics meeting

Y2 - 17 February 2017 through 17 February 2017

ER -

Incidence of uncommon fetal aneuploidies detected by non-invasive prenatal testing

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Conference

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17th annual BeSHG meeting

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