PMID- 28882078
OWN - NLM
STAT- MEDLINE
DCOM- 20190207
LR  - 20190215
IS  - 1476-4954 (Electronic)
IS  - 1476-4954 (Linking)
VI  - 32
IP  - 1
DP  - 2019 Jan
TI  - Detection of fetal duplication 16p11.2q12.1 by next-generation sequencing of 
      maternal plasma and invasive diagnosis.
PG  - 38-45
LID - 10.1080/14767058.2017.1369947 [doi]
AB  - OBJECTIVE: The objective of study is to report the feasibility of non-invasive 
      prenatal screening (NIPS) combined with invasive detection by chromosomal 
      analysis in identifying fetal duplication, providing clinical performance of NIPS 
      on copy number variations (CNVs) detection. MATERIAL AND METHODS: NIPS was 
      offered to a 35-year-old pregnant woman. Amniocentesis was performed to confirm 
      the positive screening result. Fetal sample was detected by karyotyping, 
      fluorescence in situ hybridization (FISH), and chromosomal microarray (CMA). 
      Parental karyotyping was also conducted. RESULTS: NIPS result was positive for 
      chromosome 16, indicating an extra copy of chromosome 16. FISH and chromosomal 
      karyotyping revealed that the fetus had a marker chromosome derived from 
      chromosome 16. CMA further demonstrated an approximately 19-Mb duplication in 
      chromosome 16. The final fetal karyotype was 47,XY,+mar. ish der (16)(D16Z3+).arr 
      16p11.2q12.1 (30 624 186-49 696 337 x 3). Ultrasound scan and MRI showed some 
      structure malformations. CONCLUSIONS: A protocol for CNVs detection by combining 
      a series of genetic methods was presented in this study and a novel marker 
      duplication 16p11.2q12.1 was reported. With the ability to identify 
      subchromosomal deletions and duplications in fetus, NIPS could reduce the 
      possibility of invasive diagnosis. The followed confirmation test for positive 
      sample is necessary and ensures the accuracy of the diagnosis.
FAU - Chen, Min
AU  - Chen M
AD  - a Women's Hospital, School of Medicine, Zhejiang University , Hangzhou , China.
AD  - b Key Laboratory of Reproductive Genetics , Zhejiang University, Ministry of 
      Education , Hangzhou , China.
AD  - c Key Laboratory of Women's Reproductive Health of Zhejiang Province , Hangzhou , 
      China.
FAU - Fu, Xiao-Ying
AU  - Fu XY
AD  - a Women's Hospital, School of Medicine, Zhejiang University , Hangzhou , China.
AD  - b Key Laboratory of Reproductive Genetics , Zhejiang University, Ministry of 
      Education , Hangzhou , China.
AD  - c Key Laboratory of Women's Reproductive Health of Zhejiang Province , Hangzhou , 
      China.
FAU - Luo, Yu-Qin
AU  - Luo YQ
AD  - a Women's Hospital, School of Medicine, Zhejiang University , Hangzhou , China.
AD  - b Key Laboratory of Reproductive Genetics , Zhejiang University, Ministry of 
      Education , Hangzhou , China.
AD  - c Key Laboratory of Women's Reproductive Health of Zhejiang Province , Hangzhou , 
      China.
FAU - Qian, Ye-Qing
AU  - Qian YQ
AD  - a Women's Hospital, School of Medicine, Zhejiang University , Hangzhou , China.
AD  - b Key Laboratory of Reproductive Genetics , Zhejiang University, Ministry of 
      Education , Hangzhou , China.
AD  - c Key Laboratory of Women's Reproductive Health of Zhejiang Province , Hangzhou , 
      China.
FAU - Pan, Ling
AU  - Pan L
AD  - a Women's Hospital, School of Medicine, Zhejiang University , Hangzhou , China.
AD  - b Key Laboratory of Reproductive Genetics , Zhejiang University, Ministry of 
      Education , Hangzhou , China.
AD  - c Key Laboratory of Women's Reproductive Health of Zhejiang Province , Hangzhou , 
      China.
FAU - Wang, Li-Ya
AU  - Wang LY
AD  - a Women's Hospital, School of Medicine, Zhejiang University , Hangzhou , China.
AD  - b Key Laboratory of Reproductive Genetics , Zhejiang University, Ministry of 
      Education , Hangzhou , China.
AD  - c Key Laboratory of Women's Reproductive Health of Zhejiang Province , Hangzhou , 
      China.
FAU - Dong, Min-Yue
AU  - Dong MY
AD  - a Women's Hospital, School of Medicine, Zhejiang University , Hangzhou , China.
AD  - b Key Laboratory of Reproductive Genetics , Zhejiang University, Ministry of 
      Education , Hangzhou , China.
AD  - c Key Laboratory of Women's Reproductive Health of Zhejiang Province , Hangzhou , 
      China.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20170907
PL  - England
TA  - J Matern Fetal Neonatal Med
JT  - The journal of maternal-fetal & neonatal medicine : the official journal of the 
      European Association of Perinatal Medicine, the Federation of Asia and Oceania 
      Perinatal Societies, the International Society of Perinatal Obstetricians
JID - 101136916
SB  - IM
MH  - Adult
MH  - Amniocentesis
MH  - *Chromosome Duplication
MH  - *Chromosomes, Human, Pair 16
MH  - Female
MH  - *Genetic Techniques
MH  - Humans
MH  - *Maternal Serum Screening Tests
MH  - Pregnancy
OTO - NOTNLM
OT  - 16p11.2q12.1 duplication
OT  - CNVs
OT  - NIPS
OT  - chromosomal microarray
OT  - karyotyping
EDAT- 2017/09/09 06:00
MHDA- 2019/02/08 06:00
CRDT- 2017/09/09 06:00
PHST- 2017/09/09 06:00 [pubmed]
PHST- 2019/02/08 06:00 [medline]
PHST- 2017/09/09 06:00 [entrez]
AID - 10.1080/14767058.2017.1369947 [doi]
PST - ppublish
SO  - J Matern Fetal Neonatal Med. 2019 Jan;32(1):38-45. doi: 
      10.1080/14767058.2017.1369947. Epub 2017 Sep 7.