PMID- 33722255
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20210319
IS  - 1755-8166 (Print)
IS  - 1755-8166 (Electronic)
IS  - 1755-8166 (Linking)
VI  - 14
IP  - 1
DP  - 2021 Mar 15
TI  - A placental trisomy 2 detected by NIPT evolved in a fetal small Supernumerary 
      Marker Chromosome (sSMC).
PG  - 18
LID - 10.1186/s13039-021-00535-4 [doi]
LID - 18
AB  - BACKGROUND: Non-invasive prenatal testing (NIPT) is a rapidly developing and 
      widely used method in the prenatal screening. Recently, the widespread use of the 
      NIPT caused a neglecting of the limitations of this technology. CASE 
      PRESENTATION: The 38-year-old woman underwent amniocentesis because of a high 
      risk of trisomy 2 revealed by the genome-wide Non-Invasive Prenatal Test (NIPT). 
      The invasive prenatal diagnosis revealed the mosaicism for a small supernumerary 
      marker chromosome sSMC derived from chromosome 2. Interphase fluorescence in situ 
      hybridization (FISH) on uncultured amniocytes revealed three signals of 
      centromere 2 in 30% of the cells. GTG-banded metaphases revealed abnormal 
      karyotype (47,XX,+mar[21]/46,XX[19]) and was confirmed by array comparative 
      genomic hybridization (aCGH). Cytogenetic analyses (FISH, aCGH, karyotype) on 
      fetal skin biopsies were performed and confirmed the genomic gain of the 
      centromeric region of chromosome 2. In the placenta, three cell lines were 
      detected: a normal cell line, a cell line with trisomy 2 and a third one with 
      only the sSMC. CONCLUSION: Whole-genome Non-Invasive Prenatal Testing allows not 
      only the identification of common fetal trisomies but also diagnosis of rare 
      chromosomal abnormalities. Especially in such cases, it is extremely important to 
      perform not only NIPT verification on a sample of material other than 
      trophoblast, but also to apply appropriate research methods. Such conduct allows 
      detailed analysis of the detected aberration, thus appropriate clinical validity.
FAU - Domaradzka, Justyna
AU  - Domaradzka J
AUID- ORCID: 0000-0003-3917-3358
AD  - Medical Genetics Department, The Institute of Mother and Child, Kasprzaka 17A, 
      01-211, Warsaw, Poland. Justyna.domaradzka@imid.med.pl.
FAU - Deperas, Marta
AU  - Deperas M
AD  - Medical Genetics Department, The Institute of Mother and Child, Kasprzaka 17A, 
      01-211, Warsaw, Poland.
FAU - Obersztyn, Ewa
AU  - Obersztyn E
AD  - Medical Genetics Department, The Institute of Mother and Child, Kasprzaka 17A, 
      01-211, Warsaw, Poland.
FAU - Kucinska-Chahwan, Anna
AU  - Kucinska-Chahwan A
AD  - Department of Obstetrics and Gynecology, Centre of Postgraduate Medical 
      Education, Czerniakowska 231, 00-416, Warsaw, Poland.
FAU - Brison, Nathalie
AU  - Brison N
AD  - Centre for Human Genetics, KU Leuven, Herestraat 49, 3000, Leuven, Belgium.
FAU - Van Den Bogaert, Kris
AU  - Van Den Bogaert K
AD  - Centre for Human Genetics, KU Leuven, Herestraat 49, 3000, Leuven, Belgium.
FAU - Roszkowski, Tomasz
AU  - Roszkowski T
AD  - Department of Obstetrics and Gynecology, Centre of Postgraduate Medical 
      Education, Czerniakowska 231, 00-416, Warsaw, Poland.
FAU - Kedzior, Marta
AU  - Kedzior M
AD  - Medical Genetics Department, The Institute of Mother and Child, Kasprzaka 17A, 
      01-211, Warsaw, Poland.
FAU - Bartnik-Glaska, Magdalena
AU  - Bartnik-Glaska M
AD  - Medical Genetics Department, The Institute of Mother and Child, Kasprzaka 17A, 
      01-211, Warsaw, Poland.
FAU - Luszczek, Alicja
AU  - Luszczek A
AD  - Medical Genetics Department, The Institute of Mother and Child, Kasprzaka 17A, 
      01-211, Warsaw, Poland.
FAU - Jakubow-Durska, Krystyna
AU  - Jakubow-Durska K
AD  - Medical Genetics Department, The Institute of Mother and Child, Kasprzaka 17A, 
      01-211, Warsaw, Poland.
FAU - Vermeesch, Joris Robert
AU  - Vermeesch JR
AD  - Centre for Human Genetics, KU Leuven, Herestraat 49, 3000, Leuven, Belgium.
FAU - Nowakowska, Beata Anna
AU  - Nowakowska BA
AD  - Medical Genetics Department, The Institute of Mother and Child, Kasprzaka 17A, 
      01-211, Warsaw, Poland.
LA  - eng
PT  - Journal Article
DEP - 20210315
PL  - England
TA  - Mol Cytogenet
JT  - Molecular cytogenetics
JID - 101317942
PMC - PMC7962352
OTO - NOTNLM
OT  - Array comparative genomic hybridization
OT  - Fluorescence in situ hybridization
OT  - Karyotyping
OT  - Mosaicism
OT  - Non-invasive prenatal test
OT  - Small supernumerary marker chromosome
COIS- The authors declare that they have no competing interests.
EDAT- 2021/03/17 06:00
MHDA- 2021/03/17 06:01
PMCR- 2021/03/15
CRDT- 2021/03/16 05:43
PHST- 2020/12/04 00:00 [received]
PHST- 2021/02/19 00:00 [accepted]
PHST- 2021/03/16 05:43 [entrez]
PHST- 2021/03/17 06:00 [pubmed]
PHST- 2021/03/17 06:01 [medline]
PHST- 2021/03/15 00:00 [pmc-release]
AID - 10.1186/s13039-021-00535-4 [pii]
AID - 535 [pii]
AID - 10.1186/s13039-021-00535-4 [doi]
PST - epublish
SO  - Mol Cytogenet. 2021 Mar 15;14(1):18. doi: 10.1186/s13039-021-00535-4.