PMID- 26989803
OWN - NLM
STAT- MEDLINE
DCOM- 20170217
LR  - 20170217
IS  - 1872-7654 (Electronic)
IS  - 0301-2115 (Linking)
VI  - 200
DP  - 2016 May
TI  - Noninvasive prenatal testing: more caution in counseling is needed in high risk 
      pregnancies with ultrasound abnormalities.
PG  - 72-5
LID - S0301-2115(16)30081-1 [pii]
LID - 10.1016/j.ejogrb.2016.02.042 [doi]
AB  - OBJECTIVE: Non-invasive prenatal testing (NIPT) is increasingly being used in 
      prenatal aneuploidy screening. The objective of this study was to assess the 
      positive predictive value in our cohort of 68 cases with positive NIPT result. In 
      addition, we wondered if the use of NIPT in cases with ultrasound abnormalities 
      is appropriate, given the limited number of chromosomes investigated. DESIGN: We 
      performed confirmative invasive testing using karyotyping, fluorescence in situ 
      hybridization (FISH) and/or high-resolution chromosomal microarray analysis. 
      RESULTS: In line with the published data, the positive NIPT result was confirmed 
      in 64.7% of cases. Inconclusive and negative NIPT results followed by 
      cytogenetically pathologic findings were encountered in three and in five cases, 
      respectively. Four of the five fetuses with negative NIPT but pathologic 
      cytogenetic findings were born with several malformations and diagnosed right 
      after birth with severe genetic conditions. Of note, in all of those four cases, 
      NIPT was offered despite the finding of major fetal ultrasound abnormalities and 
      despite the fact that the family would not have opposed invasive testing or 
      pregnancy termination. CONCLUSION: More education of health care providers and 
      caution in counseling and interpretation of test results are needed in order to 
      meet the challenges that this new test, which enriches our diagnostic options in 
      prenatal testing, poses.
CI  - Copyright (c) 2016 Elsevier Ireland Ltd. All rights reserved.
FAU - Oneda, Beatrice
AU  - Oneda B
AD  - Institute of Medical Genetics, University of Zurich, Zurich, Switzerland. 
      Electronic address: oneda@medgen.uzh.ch.
FAU - Steindl, Katharina
AU  - Steindl K
AD  - Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.
FAU - Masood, Rahim
AU  - Masood R
AD  - Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.
FAU - Reshetnikova, Irina
AU  - Reshetnikova I
AD  - Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.
FAU - Krejci, Pavel
AU  - Krejci P
AD  - Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.
FAU - Baldinger, Rosa
AU  - Baldinger R
AD  - Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.
FAU - Reissmann, Regina
AU  - Reissmann R
AD  - Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.
FAU - Taralczak, Malgorzata
AU  - Taralczak M
AD  - Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.
FAU - Guetg, Adriano
AU  - Guetg A
AD  - Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.
FAU - Wisser, Josef
AU  - Wisser J
AD  - Division of Obstetrics, University Hospital Zurich, Zurich 8091, Switzerland.
FAU - Fauchere, Jean-Claude
AU  - Fauchere JC
AD  - Division of Neonatology, University Hospital Zurich, Zurich, Switzerland.
FAU - Rauch, Anita
AU  - Rauch A
AD  - Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20160308
PL  - Ireland
TA  - Eur J Obstet Gynecol Reprod Biol
JT  - European journal of obstetrics, gynecology, and reproductive biology
JID - 0375672
SB  - IM
MH  - Aneuploidy
MH  - Congenital Abnormalities/diagnosis/genetics
MH  - Cytogenetic Analysis
MH  - Down Syndrome/diagnosis
MH  - Female
MH  - Fetal Growth Retardation/diagnosis
MH  - *Genetic Counseling
MH  - Gestational Age
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Karyotyping
MH  - Maternal Age
MH  - Nuchal Translucency Measurement
MH  - Oligonucleotide Array Sequence Analysis
MH  - Pregnancy
MH  - *Pregnancy, High-Risk
MH  - Prenatal Diagnosis/*methods
MH  - Trisomy
MH  - *Ultrasonography, Prenatal
OTO - NOTNLM
OT  - Counseling
OT  - High-risk pregnancy
OT  - NIPT
OT  - Non-invasive prenatal testing
OT  - Positive predictive value
EDAT- 2016/03/19 06:00
MHDA- 2017/02/18 06:00
CRDT- 2016/03/19 06:00
PHST- 2015/11/17 00:00 [received]
PHST- 2016/02/23 00:00 [revised]
PHST- 2016/02/29 00:00 [accepted]
PHST- 2016/03/19 06:00 [entrez]
PHST- 2016/03/19 06:00 [pubmed]
PHST- 2017/02/18 06:00 [medline]
AID - S0301-2115(16)30081-1 [pii]
AID - 10.1016/j.ejogrb.2016.02.042 [doi]
PST - ppublish
SO  - Eur J Obstet Gynecol Reprod Biol. 2016 May;200:72-5. doi: 
      10.1016/j.ejogrb.2016.02.042. Epub 2016 Mar 8.