PMID- 35181027
OWN - NLM
STAT- MEDLINE
DCOM- 20220310
LR  - 20220310
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 61
IP  - 1
DP  - 2022 Jan
TI  - Prenatal diagnosis of maternal uniparental disomy 21 in association with 
      low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with 
      intrauterine growth restriction and a favorable outcome.
PG  - 146-149
LID - S1028-4559(21)00329-6 [pii]
LID - 10.1016/j.tjog.2021.11.025 [doi]
AB  - OBJECTIVE: We present prenatal diagnosis of maternal uniparental disomy (UPD) 21 
      in association with low-level mosaic trisomy 21 at amniocentesis in a pregnancy 
      associated with intrauterine growth restriction (IUGR) and a favorable outcome. 
      CASE REPORT: A 42-year-old, gravida 2, para 0, woman underwent amniocentesis at 
      17 weeks of gestation because of advanced maternal age. Amniocentesis initially 
      revealed a karyotype of 46,XX in 20/20 colonies of cultured amniocytes. 
      Simultaneous array comparative genomic hybridization (aCGH) analysis on 
      uncultured amniocytes revealed a result of arr [GRCh37] (21) x 3 [0.16], (X) x 2, 
      compatible with mosaic trisomy 21. After extensive investigation, the final 
      result of conventional cytogenetic analysis of cultured amniocytes was 
      47,XX,+21[1]/46,XX[40]. The parental karyotypes were normal. Repeat amniocentesis 
      was performed at 21 weeks of gestation. The cultured amniocytes had a karyotype 
      of 47,XX,+21[3]/46,XX[27] and the uncultured amniocytes had a mosaic trisomy 21 
      level of 8.8% (10/114 cells) by interphase fluorescence in situ hybridization 
      (FISH), a mosaic trisomy 21 level of 10% (log(2) ratio = 0.08) by aCGH, and 
      maternal UPD 21 by polymorphic DNA marker analysis. Prenatal ultrasound revealed 
      IUGR. At 38 weeks of gestation, a phenotypically normal 2695-g baby was 
      delivered. The cord blood and umbilical cord had the karyotype of 46,XX and 
      maternal UPD 21. The placenta had a karyotype of 47,XX,+21[8]/46,XX[32] and a 
      maternal origin of trisomy 21. Postnatal FISH analysis on 101 buccal mucosal 
      cells showed 6.9% (7/101 cells) mosaicism compared with 2% (2/100 cells) in the 
      normal control. The baby was doing well at age four months. CONCLUSION: Pregnancy 
      with low-level mosaic trisomy 21 and maternal UPD 21 at amniocentesis can be 
      associated with IUGR and a favorable outcome. Fetuses with maternal UPD 21 can be 
      associated with mosaic trisomy 21 at amniocentesis.
CI  - Copyright (c) 2021. Published by Elsevier B.V.
FAU - Chen, Chih-Ping
AU  - Chen CP
AD  - Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, 
      Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; 
      School of Chinese Medicine, College of Chinese Medicine, China Medical 
      University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, 
      National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of 
      Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung 
      University, Taipei, Taiwan. Electronic address: cpc_mmh@yahoo.com.
FAU - Liou, Jui-Der
AU  - Liou JD
AD  - Department of Obstetrics and Gynecology, Shin-Kong Wu-Ho-SU Memorial Hospital, 
      Taipei, Taiwan.
FAU - Chern, Schu-Rern
AU  - Chern SR
AD  - Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan.
FAU - Wu, Peih-Shan
AU  - Wu PS
AD  - Gene Biodesign Co. Ltd, Taipei, Taiwan.
FAU - Chen, Shin-Wen
AU  - Chen SW
AD  - Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Wu, Fang-Tzu
AU  - Wu FT
AD  - Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Lee, Meng-Shan
AU  - Lee MS
AD  - Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Chen, Yun-Yi
AU  - Chen YY
AD  - Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan.
FAU - Wang, Wayseen
AU  - Wang W
AD  - Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan.
LA  - eng
PT  - Case Reports
PL  - China (Republic : 1949- )
TA  - Taiwan J Obstet Gynecol
JT  - Taiwanese journal of obstetrics & gynecology
JID - 101213819
RN  - Chromosome 21, uniparental disomy of
SB  - IM
MH  - Adult
MH  - Amniocentesis
MH  - Chromosomes, Human, Pair 21/genetics
MH  - Comparative Genomic Hybridization
MH  - Down Syndrome/*diagnosis/genetics
MH  - Female
MH  - Fetal Growth Retardation/*diagnosis/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Karyotype
MH  - *Mosaicism
MH  - Pregnancy
MH  - Prenatal Diagnosis
MH  - Trisomy/*diagnosis/genetics
MH  - Uniparental Disomy/diagnosis/*genetics
OTO - NOTNLM
OT  - Amniocentesis
OT  - Intrauterine growth restriction
OT  - Mosaic trisomy 21
OT  - Uniparental disomy 21
COIS- Declaration of competing interest The authors have no conflicts of interest 
      relevant to this article.
EDAT- 2022/02/20 06:00
MHDA- 2022/03/11 06:00
CRDT- 2022/02/19 05:25
PHST- 2021/10/15 00:00 [accepted]
PHST- 2022/02/19 05:25 [entrez]
PHST- 2022/02/20 06:00 [pubmed]
PHST- 2022/03/11 06:00 [medline]
AID - S1028-4559(21)00329-6 [pii]
AID - 10.1016/j.tjog.2021.11.025 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2022 Jan;61(1):146-149. doi: 10.1016/j.tjog.2021.11.025.