PMID- 38216276
OWN - NLM
STAT- MEDLINE
DCOM- 20240115
LR  - 20240115
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 63
IP  - 1
DP  - 2024 Jan
TI  - Use of the MS-MLPA assay in prenatal diagnosis of Prader-Willi syndrome with 
      mosaic trisomy 15.
PG  - 81-84
LID - S1028-4559(23)00309-1 [pii]
LID - 10.1016/j.tjog.2023.09.022 [doi]
AB  - OBJECTIVE: We present a prenatal diagnosis strategy of using Methylation-Specific 
      Multiplex Ligation-Dependent Probe Amplification (MS-MLPA) for the detection of 
      maternal uniparental disomy 15/trisomy 15 (UPD(15) mat/T15) mosaicism. CASE 
      REPORT: A 43-year-old woman underwent amniocentesis at 19 weeks of gestation due 
      to a high risk of trisomy 15 (T15) as indicated by non-invasive prenatal testing 
      (NIPT). Cytogenetic analysis revealed a karyotype of 46, XX of cultured 
      amniocytes. Further analysis using copy number variation sequencing (CNV-seq) 
      analysis showed 55 % T15 mosaicism. The second amniocentesis was performed and 
      showed a karyotype of 46, XX and 26 % T15 mosaicism by interphase fluorescence in 
      situ hybridization (FISH). MS-MLPA analysis of uncultured amniocytes showed that 
      the copy number ratio of 15q11-13 ranged from 1.3 to 1.5, and the percentage of 
      methylation was between 70 % and 100 %. MS-MLPA assay of cultured amniocytes 
      showed a copy number ratio of 1 and a methylation percentage of 100 %. Therefore, 
      this fetus was identified to be an UPD(15) mat/T15 mosaicism. The parents decided 
      to terminate the pregnancy. CONCLUSION: MS-MLPA can be used in combination with 
      karyotype and CNV-seq for prenatal diagnosis of NIPT high-risk T15 to avoid 
      missed diagnosis of UPD(15) mat/T15 mosaicism.
CI  - Copyright (c) 2023. Published by Elsevier B.V.
FAU - Zhang, Meizi
AU  - Zhang M
AD  - Reproductive Medicine Center, Tianjin First Central Hospital, Tianjin, China. 
      Electronic address: zhangmeizi030301@163.com.
FAU - Liang, Yuehong
AU  - Liang Y
AD  - Reproductive Medicine Center, Tianjin First Central Hospital, Tianjin, China.
FAU - Li, Hui
AU  - Li H
AD  - Department of Obstetrics and Gynecology, Tianjin First Central Hospital, Tianjin, 
      China.
FAU - Xu, Fengqin
AU  - Xu F
AD  - Reproductive Medicine Center, Tianjin First Central Hospital, Tianjin, China. 
      Electronic address: xufengqin1968@126.com.
LA  - eng
PT  - Case Reports
PL  - China (Republic : 1949- )
TA  - Taiwan J Obstet Gynecol
JT  - Taiwanese journal of obstetrics & gynecology
JID - 101213819
RN  - Chromosome 15, trisomy mosaicism
SB  - IM
MH  - Pregnancy
MH  - Female
MH  - Humans
MH  - Adult
MH  - In Situ Hybridization, Fluorescence
MH  - *Prader-Willi Syndrome/diagnosis/genetics
MH  - Multiplex Polymerase Chain Reaction
MH  - Trisomy/diagnosis/genetics
MH  - DNA Copy Number Variations
MH  - Prenatal Diagnosis
MH  - Amniocentesis
MH  - Mosaicism
MH  - Comparative Genomic Hybridization
MH  - Chromosomes, Human, Pair 15
MH  - *Uniparental Disomy
OTO - NOTNLM
OT  - Amniocentesis
OT  - Maternal uniparental disomy 15
OT  - Mosaic trisomy 15
OT  - Prader-Willi syndrome
COIS- Declaration of competing interest The author has no conflicts of interest 
      relevant to this article.
EDAT- 2024/01/13 00:42
MHDA- 2024/01/15 12:42
CRDT- 2024/01/12 20:58
PHST- 2023/09/27 00:00 [accepted]
PHST- 2024/01/15 12:42 [medline]
PHST- 2024/01/13 00:42 [pubmed]
PHST- 2024/01/12 20:58 [entrez]
AID - S1028-4559(23)00309-1 [pii]
AID - 10.1016/j.tjog.2023.09.022 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2024 Jan;63(1):81-84. doi: 10.1016/j.tjog.2023.09.022.