PMID- 37336233
OWN - NLM
STAT- Publisher
LR  - 20230619
IS  - 1098-8785 (Electronic)
IS  - 0735-1631 (Linking)
DP  - 2023 Jun 19
TI  - Prenatal Diagnosis of Chromosomal Mosaicism in 18,369 Cases of Amniocentesis.
LID - 10.1055/s-0043-1770163 [doi]
AB  - OBJECTIVE:  The prenatal diagnosis of chromosomal mosaicism is fraught with 
      uncertainty. Karyotyping, chromosomal microarray analysis (CMA), and fluorescence 
      in situ hybridization (FISH) are three commonly used techniques. In this study, 
      we evaluated these techniques for the prenatal diagnosis of chromosomal mosaicism 
      and its clinical outcome. STUDY DESIGN:  A retrospective review of mosaicism was 
      conducted in 18,369 pregnant women from January 2016 to November 2021. The 
      subjects underwent amniocentesis to obtain amniotic fluid for G-band karyotyping 
      with or without CMA/FISH. Cases diagnosed with chromosomal mosaicism were 
      selected for further analysis. RESULTS:  In total, 101 cases of chromosomal 
      mosaicism were detected in 100 pregnant women (0.54%, 100/18,369). Four were lost 
      during follow-up, 61 opted to terminate their pregnancy, and 35 gave birth to a 
      healthy singleton or twins. Among these 35 cases, postnatal cytogenetic testing 
      was performed on eight and two exhibited mosaicism; however, nothing abnormal was 
      observed in the postnatal phenotype follow-up. Karyotyping identified 96 
      incidents of chromosomal mosaicism including 13 with level II mosaicism and 83 
      with level III mosaicism, FISH identified 37 cases of mosaicism, and CMA 
      identified 17. The most common form of chromosomal mosaicism involved monosomy X, 
      of which the mosaic fraction in cultured karyotyping appeared higher or 
      comparable to uncultured FISH/CMA (p < 0.05). Discordant mosaic results were 
      observed in 34 of 101 cases (33.7%), most of which resulted from the detection 
      limit of different techniques and/or the dominant growth of a certain cell line. 
      CONCLUSION:  Based on the postnatal follow-up results from the babies born, we 
      obtained a more hopeful result for the prognosis of chromosomal mosaicism. 
      Although karyotyping was the most sensitive method for detecting chromosomal 
      mosaicism, artifacts and bias resulting from culture should be considered, 
      particularly for sex chromosomal abnormalities involving X monosomy, in which the 
      combination with uncultured FISH was necessary. KEY POINTS: . Karyotyping 
      combined with uncultured FISH or CMA is beneficial for prenatal diagnosis of 
      chromosomal mosaicism.. . Fetuses without ultrasound structural anomalies with 
      chromosomal mosaicism often have optimistic prognosis..
CI  - Thieme. All rights reserved.
FAU - Kang, Han
AU  - Kang H
AUID- ORCID: 0000-0003-4851-6412
AD  - Prenatal Diagnosis Department, Chengdu Women's and Children's Central Hospital, 
      School of Medicine, University of Electronic Science and Technology of China, 
      Chengdu, China.
FAU - Wang, Lingxi
AU  - Wang L
AD  - Prenatal Diagnosis Department, Chengdu Women's and Children's Central Hospital, 
      School of Medicine, University of Electronic Science and Technology of China, 
      Chengdu, China.
FAU - Xie, Yamei
AU  - Xie Y
AD  - Prenatal Diagnosis Department, Chengdu Women's and Children's Central Hospital, 
      School of Medicine, University of Electronic Science and Technology of China, 
      Chengdu, China.
FAU - Chen, Yifei
AU  - Chen Y
AD  - Prenatal Diagnosis Department, Chengdu Women's and Children's Central Hospital, 
      School of Medicine, University of Electronic Science and Technology of China, 
      Chengdu, China.
FAU - Gao, Chonglan
AU  - Gao C
AD  - Prenatal Diagnosis Department, Chengdu Women's and Children's Central Hospital, 
      School of Medicine, University of Electronic Science and Technology of China, 
      Chengdu, China.
FAU - Li, Xingyu
AU  - Li X
AD  - Prenatal Diagnosis Department, Chengdu Women's and Children's Central Hospital, 
      School of Medicine, University of Electronic Science and Technology of China, 
      Chengdu, China.
FAU - Hu, Yu
AU  - Hu Y
AD  - Prenatal Diagnosis Department, Chengdu Women's and Children's Central Hospital, 
      School of Medicine, University of Electronic Science and Technology of China, 
      Chengdu, China.
FAU - Liu, Qingsong
AU  - Liu Q
AD  - Prenatal Diagnosis Department, Chengdu Women's and Children's Central Hospital, 
      School of Medicine, University of Electronic Science and Technology of China, 
      Chengdu, China.
LA  - eng
PT  - Journal Article
DEP - 20230619
PL  - United States
TA  - Am J Perinatol
JT  - American journal of perinatology
JID - 8405212
SB  - IM
COIS- None declared.
EDAT- 2023/06/20 01:09
MHDA- 2023/06/20 01:09
CRDT- 2023/06/19 18:52
PHST- 2023/06/20 01:09 [medline]
PHST- 2023/06/20 01:09 [pubmed]
PHST- 2023/06/19 18:52 [entrez]
AID - 10.1055/s-0043-1770163 [doi]
PST - aheadofprint
SO  - Am J Perinatol. 2023 Jun 19. doi: 10.1055/s-0043-1770163.