PMID- 27125416
OWN - NLM
STAT- MEDLINE
DCOM- 20170425
LR  - 20170425
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 55
IP  - 2
DP  - 2016 Apr
TI  - Prenatal diagnosis and molecular cytogenetic characterization of low-level true 
      mosaicism for trisomy 21 using uncultured amniocytes.
PG  - 285-7
LID - S1028-4559(16)00049-8 [pii]
LID - 10.1016/j.tjog.2016.02.014 [doi]
AB  - OBJECTIVE: We present a prenatal diagnosis and molecular cytogenetic 
      characterization of low-level true mosaicism for trisomy 21 using uncultured 
      amniocytes. CASE REPORT: A 35-year-old woman presented with a borderline-positive 
      result of noninvasive prenatal testing for trisomy 21. She underwent 
      amniocentesis at 18 weeks of gestation, which revealed a karyotype of 
      47,XY,+21(5)/46,XY(53). Repeat amniocentesis at 22 weeks of gestation revealed a 
      karyotype of 47,XY,+21(6)/46,XY(26). Array comparative genomic hybridization 
      (aCGH) analysis on uncultured amniocytes revealed mosaic levels of 10% to 15% for 
      trisomy 21. Interphase fluorescence in situ hybridization (FISH) analysis on 
      uncultured amniocytes revealed a mosaic level of 21.7% (28/129 cells) for trisomy 
      21. Following genetic counseling and detailed ultrasound examination, the parents 
      decided to continue the pregnancy. The pregnancy was carried to term, and a 
      normal 3664-g male baby was delivered. The cord blood lymphocytes had a karyotype 
      of 47,XY,+21(2)/46,XY(38). Postnatal interphase FISH analysis of urine detected 
      no trisomy 21 in all 39/39 urinary cells. The neonate was phenotypically normal 
      at age 7 months. CONCLUSION: Low-level true mosaicism for trisomy 21 can be 
      associated with a favorable fetal outcome. aCGH and interphase FISH analyses on 
      uncultured amniocytes are useful for rapid confirmation of low-level true 
      mosaicism for trisomy 21 at repeated amniocentesis.
CI  - Copyright (c) 2016. 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; 
      Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese 
      Medicine, College of Chinese Medicine, China Medical University, Taichung, 
      Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming 
      University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of 
      Medicine, National Yang-Ming University, Taipei, Taiwan. Electronic address: 
      cpc_mmh@yahoo.com.
FAU - Wang, Yeou-Lih
AU  - Wang YL
AD  - Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, 
      Taiwan; Mackay Junior College of Medicine, Nursing, and Management, 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, Yen-Ni
AU  - Chen YN
AD  - Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Chen, Shin-Wen
AU  - Chen SW
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 - Lee, Meng-Shan
AU  - Lee MS
AD  - Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Yang, Chien-Wen
AU  - Yang CW
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; 
      Department of Bioengineering, Tatung University, Taipei, Taiwan.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - China (Republic : 1949- )
TA  - Taiwan J Obstet Gynecol
JT  - Taiwanese journal of obstetrics & gynecology
JID - 101213819
SB  - IM
MH  - Abnormal Karyotype
MH  - Adult
MH  - Amniocentesis
MH  - Amnion/cytology
MH  - Comparative Genomic Hybridization
MH  - Down Syndrome/*diagnosis/*genetics
MH  - Female
MH  - Humans
MH  - Infant, Newborn
MH  - Male
MH  - *Mosaicism
MH  - Pregnancy
MH  - *Prenatal Diagnosis
OTO - NOTNLM
OT  - aCGH
OT  - interphase FISH
OT  - mosaicism
OT  - trisomy 21
OT  - uncultured amniocytes
EDAT- 2016/04/30 06:00
MHDA- 2017/04/26 06:00
CRDT- 2016/04/30 06:00
PHST- 2016/02/24 00:00 [accepted]
PHST- 2016/04/30 06:00 [entrez]
PHST- 2016/04/30 06:00 [pubmed]
PHST- 2017/04/26 06:00 [medline]
AID - S1028-4559(16)00049-8 [pii]
AID - 10.1016/j.tjog.2016.02.014 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2016 Apr;55(2):285-7. doi: 10.1016/j.tjog.2016.02.014.