PMID- 32158503
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220413
IS  - 1755-8166 (Print)
IS  - 1755-8166 (Electronic)
IS  - 1755-8166 (Linking)
VI  - 13
DP  - 2020
TI  - Non-invasive prenatal screening for Emanuel syndrome.
PG  - 9
LID - 10.1186/s13039-020-0476-7 [doi]
LID - 9
AB  - OBJECTIVE: The aim of this study was to validate the results of two Emanuel 
      syndromes detected by non-invasive prenatal screening (NIPS) screening using 
      invasive methods, providing clinical performance of NIPS on chromosome 
      microduplication detection. METHODS: NIPS was performed to diagnose the Emanuel 
      syndrome. Amniocentesis or cordocentesis was performed to confirm the positive 
      screening result of Emanuel syndrome cases. Fetal sample was detected by 
      karyotyping, fluorescence in situ hybridization (FISH), and single nucleotide 
      polymorphism array (SNP Array). Parental karyotyping and FISH were also carried 
      out. RESULTS: Two cases with chromosomal abnormalities of 11q23.3q25 and 
      22q11.1q11.21 were found by NIPS. Chromosomal karyotyping showed that the two 
      fetuses each have a small supernumerary marker chromosome (sSMC), SNP Array 
      further demonstrated double duplications approximately 18 Mb in 11q23.3q25 and 
      3 Mb in 22q11.1q11.21. FISH confirmed that the small supernumerary marker 
      chromosome (sSMC) was ish der(22)t(11;22) (TUPLE1+, ARSA-). Ultrasound scan and 
      MRI showed some structure malformations in two fetuses. The two mothers were 
      found to be a balanced carrier: 46,XX, t(11;22)(q23.3;q11.2). CONCLUSION: NIPS 
      could effectively identify Emanuel syndrome, which may indicate risks of a parent 
      being a balanced rearrangement carrier. The followed confirmation test for 
      positive sample is necessary and ensures the accuracy of the diagnosis.
CI  - (c) The Author(s). 2020.
FAU - Luo, Yuqin
AU  - Luo Y
AD  - 1Department of Reproductive Genetics, Women's Hospital,School of Medicine, 
      Zhejiang University, 1 Xueshi Road, Hangzhou, 310006 Zhejiang China. ISNI: 0000 
      0004 1759 700X. GRID: grid.13402.34
AD  - 2Ministry of Education, Key Laboratory of Reproductive Genetics (Zhejiang 
      University), Hangzhou, People's Republic of China. ISNI: 0000 0004 1759 700X. 
      GRID: grid.13402.34
FAU - Lin, Jie
AU  - Lin J
AD  - 2Ministry of Education, Key Laboratory of Reproductive Genetics (Zhejiang 
      University), Hangzhou, People's Republic of China. ISNI: 0000 0004 1759 700X. 
      GRID: grid.13402.34
FAU - Sun, Yixi
AU  - Sun Y
AD  - 1Department of Reproductive Genetics, Women's Hospital,School of Medicine, 
      Zhejiang University, 1 Xueshi Road, Hangzhou, 310006 Zhejiang China. ISNI: 0000 
      0004 1759 700X. GRID: grid.13402.34
AD  - 2Ministry of Education, Key Laboratory of Reproductive Genetics (Zhejiang 
      University), Hangzhou, People's Republic of China. ISNI: 0000 0004 1759 700X. 
      GRID: grid.13402.34
FAU - Qian, Yeqing
AU  - Qian Y
AD  - 1Department of Reproductive Genetics, Women's Hospital,School of Medicine, 
      Zhejiang University, 1 Xueshi Road, Hangzhou, 310006 Zhejiang China. ISNI: 0000 
      0004 1759 700X. GRID: grid.13402.34
AD  - 2Ministry of Education, Key Laboratory of Reproductive Genetics (Zhejiang 
      University), Hangzhou, People's Republic of China. ISNI: 0000 0004 1759 700X. 
      GRID: grid.13402.34
FAU - Wang, Liya
AU  - Wang L
AD  - 1Department of Reproductive Genetics, Women's Hospital,School of Medicine, 
      Zhejiang University, 1 Xueshi Road, Hangzhou, 310006 Zhejiang China. ISNI: 0000 
      0004 1759 700X. GRID: grid.13402.34
AD  - 2Ministry of Education, Key Laboratory of Reproductive Genetics (Zhejiang 
      University), Hangzhou, People's Republic of China. ISNI: 0000 0004 1759 700X. 
      GRID: grid.13402.34
FAU - Chen, Min
AU  - Chen M
AD  - 1Department of Reproductive Genetics, Women's Hospital,School of Medicine, 
      Zhejiang University, 1 Xueshi Road, Hangzhou, 310006 Zhejiang China. ISNI: 0000 
      0004 1759 700X. GRID: grid.13402.34
AD  - 2Ministry of Education, Key Laboratory of Reproductive Genetics (Zhejiang 
      University), Hangzhou, People's Republic of China. ISNI: 0000 0004 1759 700X. 
      GRID: grid.13402.34
FAU - Dong, Minyue
AU  - Dong M
AD  - 1Department of Reproductive Genetics, Women's Hospital,School of Medicine, 
      Zhejiang University, 1 Xueshi Road, Hangzhou, 310006 Zhejiang China. ISNI: 0000 
      0004 1759 700X. GRID: grid.13402.34
AD  - 2Ministry of Education, Key Laboratory of Reproductive Genetics (Zhejiang 
      University), Hangzhou, People's Republic of China. ISNI: 0000 0004 1759 700X. 
      GRID: grid.13402.34
FAU - Jin, Fan
AU  - Jin F
AD  - 1Department of Reproductive Genetics, Women's Hospital,School of Medicine, 
      Zhejiang University, 1 Xueshi Road, Hangzhou, 310006 Zhejiang China. ISNI: 0000 
      0004 1759 700X. GRID: grid.13402.34
AD  - 2Ministry of Education, Key Laboratory of Reproductive Genetics (Zhejiang 
      University), Hangzhou, People's Republic of China. ISNI: 0000 0004 1759 700X. 
      GRID: grid.13402.34
AD  - 3Centre of Reproductive Medicine, Women's Hospital, Zhejiang University School of 
      Medicine, Hangzhou, China. ISNI: 0000 0004 1759 700X. GRID: grid.13402.34
LA  - eng
PT  - Journal Article
DEP - 20200304
PL  - England
TA  - Mol Cytogenet
JT  - Molecular cytogenetics
JID - 101317942
PMC - PMC7057502
OTO - NOTNLM
OT  - Emanuel syndrome (ES)
OT  - Microduplication
OT  - NIPS
OT  - SNP Array
OT  - Supernumerary
OT  - Translocation
COIS- Competing interestsThe author(s) declare that they have no competing interest.
EDAT- 2020/03/12 06:00
MHDA- 2020/03/12 06:01
PMCR- 2020/03/04
CRDT- 2020/03/12 06:00
PHST- 2019/12/08 00:00 [received]
PHST- 2020/02/07 00:00 [accepted]
PHST- 2020/03/12 06:00 [entrez]
PHST- 2020/03/12 06:00 [pubmed]
PHST- 2020/03/12 06:01 [medline]
PHST- 2020/03/04 00:00 [pmc-release]
AID - 476 [pii]
AID - 10.1186/s13039-020-0476-7 [doi]
PST - epublish
SO  - Mol Cytogenet. 2020 Mar 4;13:9. doi: 10.1186/s13039-020-0476-7. eCollection 2020.