PMID- 35651933
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220716
IS  - 1664-8021 (Print)
IS  - 1664-8021 (Electronic)
IS  - 1664-8021 (Linking)
VI  - 13
DP  - 2022
TI  - Prenatal Diagnosis of Chromosomal Mosaicism in Over 18,000 Pregnancies: A 
      Five-Year Single-Tertiary-Center Retrospective Analysis.
PG  - 876887
LID - 10.3389/fgene.2022.876887 [doi]
LID - 876887
AB  - Background: Chromosomal mosaicism (CM) is a common biological phenomenon observed 
      in humans. It is one of the main challenges in prenatal diagnosis due to 
      uncertain outcomes, especially when fetal ultrasonographic features appear 
      normal. This study aimed to assess the phenotypic features of CM detected during 
      prenatal diagnosis and the risk factors affecting parents' pregnancy decisions. 
      Materials and methods: A retrospective cohort study involving 18,374 consecutive 
      pregnancies that underwent prenatal diagnosis by karyotyping, fluorescence in 
      situ hybridization (FISH), or chromosome microarray analysis (CMA) was conducted. 
      The association of risk factors with malformations detected by ultrasound and 
      pregnancy outcomes was assessed using the chi-square test and binary logistic 
      regression. Discordant results between the different methods were identified and 
      further analyzed. Results: During this five-year period, 118 (0.6%) patients were 
      diagnosed with CM. The incidences of CM in the chorionic villus, amniotic fluid, 
      and umbilical cord blood were 3.2, 0.5, and 0.7%, respectively. The frequency of 
      ultrasound malformations in individuals with a high fraction of autosomal CM was 
      significantly higher than that in other groups (62.5% vs. 21.4-33.3%, all p 
      <0.05). Inconsistent results between karyotyping and CMA/FISH were observed in 23 
      cases (19.5%). The risk of pregnancy termination in cases with ultrasound 
      malformations, consistent results, autosomal CM, or a high CM fraction increased 
      with an odds ratio of 3.09, 8.35, 2.30, and 7.62 (all p <0.05). Multiple 
      regression analysis revealed that all four factors were independent risk factors 
      for the termination of pregnancy. Conclusion: Patients with a high fraction of 
      autosomal CM are more likely to have ultrasound malformations. Inconsistent 
      results between different methods in CM are not rare. Ultrasound malformations, 
      consistent results between different methods, autosomal CM, and a high CM 
      fraction were independent risk factors for the choice to terminate pregnancies.
CI  - Copyright (c) 2022 Li, Shi, Han, Chen, Shen, Hu, Zhao and Wang.
FAU - Li, Shuyuan
AU  - Li S
AD  - The International Peace Maternity and Child Health Hospital, School of Medicine, 
      Shanghai Jiao Tong University, Shanghai, China.
AD  - Shanghai Key Laboratory of Embryo Original Diseases, Shanghai, China.
FAU - Shi, Yiru
AU  - Shi Y
AD  - The International Peace Maternity and Child Health Hospital, School of Medicine, 
      Shanghai Jiao Tong University, Shanghai, China.
AD  - Shanghai Key Laboratory of Embryo Original Diseases, Shanghai, China.
FAU - Han, Xu
AU  - Han X
AD  - The International Peace Maternity and Child Health Hospital, School of Medicine, 
      Shanghai Jiao Tong University, Shanghai, China.
AD  - Shanghai Key Laboratory of Embryo Original Diseases, Shanghai, China.
FAU - Chen, Yiyao
AU  - Chen Y
AD  - The International Peace Maternity and Child Health Hospital, School of Medicine, 
      Shanghai Jiao Tong University, Shanghai, China.
AD  - Shanghai Key Laboratory of Embryo Original Diseases, Shanghai, China.
FAU - Shen, Yinghua
AU  - Shen Y
AD  - The International Peace Maternity and Child Health Hospital, School of Medicine, 
      Shanghai Jiao Tong University, Shanghai, China.
AD  - Shanghai Key Laboratory of Embryo Original Diseases, Shanghai, China.
FAU - Hu, Wenjing
AU  - Hu W
AD  - The International Peace Maternity and Child Health Hospital, School of Medicine, 
      Shanghai Jiao Tong University, Shanghai, China.
AD  - Shanghai Key Laboratory of Embryo Original Diseases, Shanghai, China.
FAU - Zhao, Xinrong
AU  - Zhao X
AD  - The International Peace Maternity and Child Health Hospital, School of Medicine, 
      Shanghai Jiao Tong University, Shanghai, China.
AD  - Shanghai Key Laboratory of Embryo Original Diseases, Shanghai, China.
FAU - Wang, Yanlin
AU  - Wang Y
AD  - The International Peace Maternity and Child Health Hospital, School of Medicine, 
      Shanghai Jiao Tong University, Shanghai, China.
AD  - Shanghai Key Laboratory of Embryo Original Diseases, Shanghai, China.
LA  - eng
PT  - Journal Article
DEP - 20220516
PL  - Switzerland
TA  - Front Genet
JT  - Frontiers in genetics
JID - 101560621
PMC - PMC9150818
OTO - NOTNLM
OT  - chromosomal mosaicism
OT  - inconsistent results
OT  - prenatal diagnosis
OT  - termination of pregnancy
OT  - ultrasound malformations
COIS- The authors declare that the research was conducted in the absence of any 
      commercial or financial relationships that could be construed as a potential 
      conflict of interest.
EDAT- 2022/06/03 06:00
MHDA- 2022/06/03 06:01
PMCR- 2022/05/16
CRDT- 2022/06/02 02:14
PHST- 2022/02/16 00:00 [received]
PHST- 2022/03/28 00:00 [accepted]
PHST- 2022/06/02 02:14 [entrez]
PHST- 2022/06/03 06:00 [pubmed]
PHST- 2022/06/03 06:01 [medline]
PHST- 2022/05/16 00:00 [pmc-release]
AID - 876887 [pii]
AID - 10.3389/fgene.2022.876887 [doi]
PST - epublish
SO  - Front Genet. 2022 May 16;13:876887. doi: 10.3389/fgene.2022.876887. eCollection 
      2022.