PMID- 27184347
OWN - NLM
STAT- MEDLINE
DCOM- 20171003
LR  - 20220331
IS  - 1552-4876 (Electronic)
IS  - 1552-4868 (Linking)
VI  - 172
IP  - 2
DP  - 2016 Jun
TI  - Confined placental mosaicism and its impact on confirmation of NIPT results.
PG  - 118-22
LID - 10.1002/ajmg.c.31505 [doi]
AB  - Non-invasive prenatal testing (NIPT) has been widely used to screen for common 
      aneuploidies since 2011. While NIPT is highly sensitive and specific, false 
      positive results can occur. One important cause of false positive results is 
      confined placental mosaicism (CPM). This can occur through a mitotic 
      nondisjunction event or through aneuploidy rescue. CPM is usually associated with 
      normal fetal outcomes, but has been associated with intrauterine growth 
      restriction, pregnancy loss, or perinatal death in some cases. CPM may also be a 
      marker for uniparental disomy. Given that NIPT can result in false positives, 
      positive results should be confirmed with invasive testing before any 
      irreversible procedure is performed. Whether to perform CVS or amniocentesis to 
      confirm a positive NIPT result is controversial. While CVS can be performed 
      earlier than amniocentesis, CPM can also cause false positive results. Our 
      practice is to proceed with CVS, and to examine all cell lines using both an 
      uncultured sample using fluorescence in situ hybridization (FISH) or short-term 
      culture, as well as long-term culture of the sample. If the results all show 
      aneuploidy, the results are reported to the patient. Otherwise, if the results 
      are also mosaic, amniocentesis is recommended and analyzed by both FISH and 
      karyotype. (c) 2016 Wiley Periodicals, Inc.
CI  - (c) 2016 Wiley Periodicals, Inc.
FAU - Mardy, Anne
AU  - Mardy A
FAU - Wapner, Ronald J
AU  - Wapner RJ
LA  - eng
PT  - Journal Article
DEP - 20160517
PL  - United States
TA  - Am J Med Genet C Semin Med Genet
JT  - American journal of medical genetics. Part C, Seminars in medical genetics
JID - 101235745
SB  - IM
MH  - Amniocentesis
MH  - Aneuploidy
MH  - Chorionic Villi Sampling
MH  - False Positive Reactions
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - *Mosaicism
MH  - *Placenta
MH  - Pregnancy
MH  - Pregnancy Complications/etiology
MH  - Prenatal Diagnosis/*methods
OTO - NOTNLM
OT  - NIPT
OT  - genetics
OT  - prenatal diagnosis
EDAT- 2016/05/18 06:00
MHDA- 2017/10/04 06:00
CRDT- 2016/05/18 06:00
PHST- 2016/05/18 06:00 [entrez]
PHST- 2016/05/18 06:00 [pubmed]
PHST- 2017/10/04 06:00 [medline]
AID - 10.1002/ajmg.c.31505 [doi]
PST - ppublish
SO  - Am J Med Genet C Semin Med Genet. 2016 Jun;172(2):118-22. doi: 
      10.1002/ajmg.c.31505. Epub 2016 May 17.