PMID- 26522104
OWN - NLM
STAT- MEDLINE
DCOM- 20160830
LR  - 20151102
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 54
IP  - 5
DP  - 2015 Oct
TI  - Maternal mosaicism of sex chromosome causes discordant sex chromosomal 
      aneuploidies associated with noninvasive prenatal testing.
PG  - 527-31
LID - S1028-4559(15)00159-X [pii]
LID - 10.1016/j.tjog.2014.10.009 [doi]
AB  - OBJECTIVE: To investigate the clinical efficiency of noninvasive prenatal test 
      (NIPT) identifying fetal chromosomal aneuploidies. MATERIALS AND METHODS: In the 
      present study, 917 women with high-risk pregnancies were invited to participate 
      in an NIPT trial based on an Illumina HiSeq massively parallel sequencing 
      platform. Abnormal cases in NIPT were validated by karyotyping and fluorescence 
      in situ hybridization (FISH) analysis. All of the participants' infants were 
      examined clinically and followed up for at least 6 months. RESULTS: A total of 35 
      (3.82%) high-risk pregnancies were detected with abnormal results in NIPT, which 
      included 25 cases (2.73%) of trisomy 21 (Tri21), four cases (0.44%) of trisomy 18 
      (Tri18), four cases (0.44%) of Turner syndrome (45, X), one cases (0.11%) of 
      Klinefelter's syndrome (47, XXY), and one cases (0.11%) with lower X chromosome 
      concentration. Further validation indicated that one case of Tri18 and the case 
      with lower X chromosome concentration were false positive results (0.22%) in 
      NIPT. Furthermore, it was found that the false positive case with lower X 
      chromosome concentration in NIPT was caused by maternal sex chromosomal mosaicism 
      (45, X and 46, XX). CONCLUSION: Our findings indicated that maternal mosaicism of 
      sex chromosome could cause discordant sex chromosomal aneuploidies associated 
      with NIPT. We highly recommended that maternal karyotype should be confirmed for 
      the cases with abnormal results in NIPT.
CI  - Copyright (c) 2015. Published by Elsevier B.V.
FAU - Wang, Leilei
AU  - Wang L
AD  - Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, 
      Lianyungang, Jiangsu 222001, China.
FAU - Meng, Qian
AU  - Meng Q
AD  - Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, 
      Lianyungang, Jiangsu 222001, China.
FAU - Tang, Xinxin
AU  - Tang X
AD  - Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, 
      Lianyungang, Jiangsu 222001, China.
FAU - Yin, Ting
AU  - Yin T
AD  - Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, 
      Lianyungang, Jiangsu 222001, China.
FAU - Zhang, Jinglu
AU  - Zhang J
AD  - Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, 
      Lianyungang, Jiangsu 222001, China.
FAU - Yang, Shuting
AU  - Yang S
AD  - Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, 
      Lianyungang, Jiangsu 222001, China.
FAU - Wang, Xuyun
AU  - Wang X
AD  - Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, 
      Lianyungang, Jiangsu 222001, China.
FAU - Wu, Haiqian
AU  - Wu H
AD  - Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, 
      Lianyungang, Jiangsu 222001, China.
FAU - Shi, Qingxi
AU  - Shi Q
AD  - Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, 
      Lianyungang, Jiangsu 222001, China.
FAU - Jenkins, Edmund C
AU  - Jenkins EC
AD  - Department of Human Genetics, New York State Institute for Basic Research in 
      Developmental Disabilities, Staten Island, NY 10314, USA.
FAU - Zhong, Nanbert
AU  - Zhong N
AD  - Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, 
      Lianyungang, Jiangsu 222001, China; Department of Human Genetics, New York State 
      Institute for Basic Research in Developmental Disabilities, Staten Island, NY 
      10314, USA.
FAU - Gu, Ying
AU  - Gu Y
AD  - Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, 
      Lianyungang, Jiangsu 222001, China. Electronic address: yinggulyg@hotmail.com.
LA  - eng
PT  - Journal Article
PT  - Randomized Controlled Trial
PT  - Research Support, Non-U.S. Gov't
PL  - China (Republic : 1949- )
TA  - Taiwan J Obstet Gynecol
JT  - Taiwanese journal of obstetrics & gynecology
JID - 101213819
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Chromosomes, Human, Pair 18/*genetics
MH  - *Chromosomes, Human, X
MH  - Down Syndrome/*diagnosis/genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Middle Aged
MH  - *Mosaicism
MH  - Pregnancy
MH  - Prenatal Diagnosis/*methods
MH  - Sequence Analysis, DNA
MH  - *Sex Chromosome Aberrations
MH  - Sex Chromosomes/*genetics
MH  - Young Adult
OTO - NOTNLM
OT  - chromosomal aneuploidies
OT  - confined placental mosaicism
OT  - maternal mosaicism
OT  - noninvasive prenatal test
OT  - prenatal diagnosis
EDAT- 2015/11/03 06:00
MHDA- 2016/08/31 06:00
CRDT- 2015/11/03 06:00
PHST- 2014/10/29 00:00 [accepted]
PHST- 2015/11/03 06:00 [entrez]
PHST- 2015/11/03 06:00 [pubmed]
PHST- 2016/08/31 06:00 [medline]
AID - S1028-4559(15)00159-X [pii]
AID - 10.1016/j.tjog.2014.10.009 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2015 Oct;54(5):527-31. doi: 10.1016/j.tjog.2014.10.009.