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

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Abstract

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.
Original languageEnglish
Title of host publication17th Annual Meeting of the Belgian Society of Human Genetics
Subtitle of host publicationHuman Genetics goes Somatic
PublisherBelgian Society of Human Genetics
Pages100-100
Number of pages1
Publication statusPublished - 17 Feb 2017
Event17th annual Belgian Society of Human Genetics meeting: Human genetics goes somatic - Louvain-la-Neuve, Aula Magna, Louvain-la-Neuve, Belgium
Duration: 17 Feb 201717 Feb 2017
http://www.beshg.be/index.php?page=program

Conference

Conference17th annual Belgian Society of Human Genetics meeting
CountryBelgium
CityLouvain-la-Neuve
Period17/02/1717/02/17
Internet address

Keywords

  • Genetics
  • Somatic

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