PMID- 27751421
OWN - NLM
STAT- MEDLINE
DCOM- 20170418
LR  - 20170418
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 55
IP  - 5
DP  - 2016 Oct
TI  - Mosaic trisomy 17 at amniocentesis: Prenatal diagnosis, molecular genetic 
      analysis, and literature review.
PG  - 712-717
LID - S1028-4559(16)30135-8 [pii]
LID - 10.1016/j.tjog.2016.07.006 [doi]
AB  - OBJECTIVE: We present prenatal diagnosis and molecular genetic analysis of mosaic 
      trisomy 17 and a review of the literature of mosaic trisomy 17 at amniocentesis. 
      MATERIALS AND METHODS: A 42-year-old woman underwent amniocentesis at 17 weeks of 
      gestation because of advanced maternal age, which revealed a karyotype of 
      47,XX,+17[4]/46,XX[17]. Prenatal ultrasound findings were unremarkable. She 
      underwent repeat amniocentesis at 20 weeks of gestation. Interphase fluorescence 
      in situ hybridization (FISH), array comparative genomic hybridization, and 
      quantitative fluorescent polymerase chain reaction assays were applied to 
      uncultured amniocytes. Conventional cytogenetic analysis was applied to cultured 
      amniocytes and cord blood. Interphase FISH was applied to uncultured urinary 
      cells postnatally. RESULTS: At repeat amniocentesis, molecular genetic analysis 
      of uncultured amniocytes revealed no genomic imbalance in array comparative 
      genomic hybridization, no uniparental disomy 17 in quantitative fluorescent 
      polymerase chain reaction, and 4.7% (5/105 cells) mosaic trisomy 17 in interphase 
      FISH analysis. Conventional cytogenetic analysis of cultured amniocytes revealed 
      a karyotype of 46,XX (17/17 colonies). A phenotypically normal baby was delivered 
      at 38 weeks of gestation. The cord blood had a karyotype of 46,XX. Interphase 
      FISH analysis of uncultured urinary cells revealed 5.6% (5/90 cells) mosaic 
      trisomy 17. The neonate manifested normal growth and psychomotor development 
      during follow-ups. CONCLUSION: Low-level mosaicism for trisomy 17 detected by 
      amniocentesis without ultrasound abnormality can be associated with a favorable 
      outcome. Molecular genetic analysis of uncultured amniocytes at repeat 
      amniocentesis is useful for genetic counseling. A review of the literature shows 
      a correlation between an adverse fetal outcome and a higher trisomy 17 mosaicism 
      level at amniocentesis associated with ultrasound abnormality.
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, Liang-Kai
AU  - Wang LK
AD  - Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Chern, Schu-Rern
AU  - Chern SR
AD  - Department of Medical Research, Mackay Memorial Hospital, 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 - Wu, Peih-Shan
AU  - Wu PS
AD  - Gene Biodesign Co. Ltd, Taipei, Taiwan.
FAU - Town, Dai-Dyi
AU  - Town DD
AD  - Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Pan, Chen-Wen
AU  - Pan CW
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
PT  - Review
PL  - China (Republic : 1949- )
TA  - Taiwan J Obstet Gynecol
JT  - Taiwanese journal of obstetrics & gynecology
JID - 101213819
RN  - Chromosome 17 trisomy
SB  - IM
MH  - Adult
MH  - Amniocentesis/*methods
MH  - Chromosomes, Human, Pair 17/genetics
MH  - Cytogenetic Analysis
MH  - Female
MH  - Humans
MH  - Infant, Newborn
MH  - Karyotyping
MH  - Maternal Age
MH  - *Mosaicism
MH  - Pregnancy
MH  - Prenatal Diagnosis/*methods
MH  - Trisomy/*diagnosis/genetics
OTO - NOTNLM
OT  - amniocentesis
OT  - mosaic trisomy 17
OT  - mosaicism
OT  - prenatal diagnosis
OT  - trisomy 17
EDAT- 2016/10/19 06:00
MHDA- 2017/04/19 06:00
CRDT- 2016/10/19 06:00
PHST- 2016/07/30 00:00 [accepted]
PHST- 2016/10/19 06:00 [pubmed]
PHST- 2017/04/19 06:00 [medline]
PHST- 2016/10/19 06:00 [entrez]
AID - S1028-4559(16)30135-8 [pii]
AID - 10.1016/j.tjog.2016.07.006 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2016 Oct;55(5):712-717. doi: 10.1016/j.tjog.2016.07.006.