PMID- 35181026
OWN - NLM
STAT- MEDLINE
DCOM- 20220310
LR  - 20220310
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 61
IP  - 1
DP  - 2022 Jan
TI  - Detection of maternal uniparental disomy 9 in association with low-level mosaic 
      trisomy 9 at amniocentesis in a pregnancy associated with intrauterine growth 
      restriction, abnormal first-trimester screening result (low PAPP-A and low PlGF), 
      maternal preeclampsia and a favorable outcome.
PG  - 141-145
LID - S1028-4559(21)00328-4 [pii]
LID - 10.1016/j.tjog.2021.11.024 [doi]
AB  - OBJECTIVE: We present detection of maternal uniparental disomy (UPD) 9 in 
      association with low-level mosaic trisomy 9 at amniocentesis in a pregnancy 
      associated with intrauterine growth restriction (IUGR), an abnormal 
      first-trimester maternal serum screening result, abnormal non-invasive prenatal 
      testing (NIPT), maternal preeclampsia and a favorable outcome. CASE REPORT: A 
      37-year-old, primigravid woman underwent first-trimester maternal serum screening 
      and NIPT at 11 weeks of gestation, which revealed a gene dosage increase in 
      chromosome 9 and low levels of plasma protein-A (PAPP-A) and placental growth 
      factor (PlGF) in maternal blood. The woman underwent amniocentesis at 16 weeks of 
      gestation, which revealed a karyotype of 47,XX,+9[4]/46,XX[35] in cultured 
      amniocytes. Simultaneous array comparative genomic hybridization (aCGH) analysis 
      on uncultured amniocytes revealed a result of arr [GRCh37] (9) x 3 [0.14] 
      (X) x 2, compatible with mosaic trisomy 9. The parental karyotypes were normal. 
      Repeat amniocentesis was performed at 20 weeks of gestation. The cultured 
      amniocytes had a karyotype of 47,XX,+9[1]/46,XX[23]. The uncultured amniocytes 
      had a mosaic trisomy 9 level of 10.7% (12/112 cells) by interphase fluorescence 
      in situ hybridization (FISH), a mosaic trisomy 9 level of 10-14% (log(2) 
      ratio = 0.1) by aCGH, and maternal uniparental isodisomy 9 by polymorphic DNA 
      marker analysis. Prenatal ultrasound revealed IUGR, and the mother had 
      preeclampsia. At 29 weeks of gestation, a 1054-g phenotypically normal baby was 
      delivered because of preterm labor. The cord blood and umbilical cord had the 
      karyotype of 46, XX and maternal UPD 9 and isodisomy 9, while the placenta had 
      trisomy 9 of maternal origin. Postnatal FISH anlaysis on 101 buccal mucosal cells 
      and 100 urinary cells at age three months detected no trisomy 9 signals. The baby 
      was doing well at age six months. CONCLUSION: Pregnancy with low-level mosaic 
      trisomy 9 and maternal UPD 9 at amniocentesis can be associated with IUGR, 
      maternal preeclampsia and a favorable outcome. Fetuses with maternal UPD 9 can be 
      associated with an abnormal NIPT result concerning chromosome 9, an abnormal 
      first-trimester maternal serum screening result (low PAPP-A and low PlGF) and 
      mosaic trisomy 9 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 - 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 - Chen, Li-Feng
AU  - Chen LF
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  - 144589-93-5 (Placenta Growth Factor)
RN  - EC 3.4.24.- (Pregnancy-Associated Plasma Protein-A)
RN  - Chromosome 9, trisomy
SB  - IM
MH  - Adult
MH  - Amniocentesis/*methods
MH  - Chromosomes, Human, Pair 9/genetics
MH  - Comparative Genomic Hybridization
MH  - Female
MH  - Fetal Growth Retardation/diagnosis/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Mosaicism
MH  - Placenta Growth Factor/*blood
MH  - Pre-Eclampsia/diagnosis/genetics
MH  - Pregnancy
MH  - Pregnancy Trimester, First
MH  - Pregnancy-Associated Plasma Protein-A/*analysis
MH  - Trisomy/diagnosis/*genetics
MH  - Uniparental Disomy/diagnosis/*genetics
OTO - NOTNLM
OT  - Amniocentesis
OT  - Intrauterine growth restriction
OT  - Mosaic trisomy 9
OT  - Preeclampsia
OT  - Uniparental disomy 9
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)00328-4 [pii]
AID - 10.1016/j.tjog.2021.11.024 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2022 Jan;61(1):141-145. doi: 10.1016/j.tjog.2021.11.024.