Discordant non-invasive prenatal testing (NIPT) - a systematic review

Limited Clinical Utility of Non-invasive Prenatal Testing for Subchromosomal Abnormalities

(2016) Kitty K. Lo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Vanished Twins and Misdiagnosed Sex: A Case Report with Implications in Prenatal Counseling Using Noninvasive Cell-Free DNA Screening

(2016) J. F. Kelley et al.   Journal of the American Board of Family Medicine

Copy-Number Variation and False Positive Prenatal Screening Results

(2016) Darya I. Chudova et al.   NEW ENGLAND JOURNAL OF MEDICINE

Follow-up of multiple aneuploidies and single monosomies detected by noninvasive prenatal testing: implications for management and counseling

(2016) Holly L. Snyder et al.   PRENATAL DIAGNOSIS

Incidental detection of familial APP duplication: an unusual reason for a false positive NIPT result of trisomy 21

(2016) Wendy S. Meschino et al.   PRENATAL DIAGNOSIS

Patient choice and clinical outcomes following positive noninvasive prenatal screening for aneuploidy with cell-free DNA (cfDNA)

(2016) Lori J. Dobson et al.   PRENATAL DIAGNOSIS

The importance of determining the limit of detection of non-invasive prenatal testing methods

(2016) Francesco Fiorentino et al.   PRENATAL DIAGNOSIS

Comment on “The importance of determining the limit of detection of non-invasive prenatal testing methods”

(2016) Kai Lüthgens et al.   PRENATAL DIAGNOSIS

Calculating the fetal fraction for noninvasive prenatal testing based on genome-wide nucleosome profiles

(2016) Roy Straver et al.   PRENATAL DIAGNOSIS

Confined placental mosaicism of double trisomies 9 and 21: discrepancy between non-invasive prenatal testing, chorionic villus sampling and postnatal confirmation

(2016) H.-H. Cheng et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Prospective first-trimester screening for trisomies by cell-free DNA testing of maternal blood in twin pregnancy

(2016) L. Sarno et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis

(2016) Sian Taylor-Phillips et al.   BMJ Open

Noninvasive Prenatal Testing and Incidental Detection of Occult Maternal Malignancies

(2015) Diana W. Bianchi et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Discordant circulating fetal DNA and subsequent cytogenetics reveal false negative, placental mosaic, and fetal mosaic cfDNA genotypes

(2015) Roger V Lebo et al.   Journal of Translational Medicine

Copy-Number Variation and False Positive Results of Prenatal Screening

(2015)   NEW ENGLAND JOURNAL OF MEDICINE

Copy-Number Variation and False Positive Prenatal Aneuploidy Screening Results

(2015) Matthew W. Snyder et al.   NEW ENGLAND JOURNAL OF MEDICINE

Clinical performance of non-invasive prenatal testing (NIPT) using targeted cell-free DNA analysis in maternal plasma with microarrays or next generation sequencing (NGS) is consistent across multiple controlled clinical studies

(2015) Renee Stokowski et al.   PRENATAL DIAGNOSIS

Analysis of false-positive results of fetalRHDtyping in a national screening program reveals vanishing twins as potential cause for discrepancy

(2015) F. F. Thurik et al.   PRENATAL DIAGNOSIS

Interpreting mosaicism in chorionic villi: results of a monocentric series of 1001 mosaics in chorionic villi with follow-up amniocentesis

(2015) Francesca Malvestiti et al.   PRENATAL DIAGNOSIS

Determination of fetal DNA fraction from the plasma of pregnant women using sequence read counts

(2015) Sung K. Kim et al.   PRENATAL DIAGNOSIS

Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146 958 pregnancies

(2015) H. Zhang et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis

(2015) M. M. Gil et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Clinical experience and follow-up with large scale single-nucleotide polymorphism–based noninvasive prenatal aneuploidy testing

(2014) Pe'er Dar et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Confined placental origin of the circulating cell free fetal DNA revealed by a discordant non-invasive prenatal test result in a trisomy 18 pregnancy

(2014) Jun Mao et al.   CLINICA CHIMICA ACTA

Fetoplacental mosaicism: potential implications for false-positive and false-negative noninvasive prenatal screening results

(2014) Francesca R. Grati et al.   GENETICS IN MEDICINE

Vanishing twin as a potential source of bias in non-invasive fetal sex determination: A case report

(2014) Barbora Vlková et al.   JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH

Detection of Circulating Tumor DNA in Early- and Late-Stage Human Malignancies

(2014) C. Bettegowda et al.   Science Translational Medicine

Discordant results between fetal cell-free DNA in maternal plasma and chorionic villus sampling in a first-trimester fetus with increased nuchal translucency and megacystis

(2014) W. Sepulveda   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Abnormal non-invasive prenatal test results concordant with karyotype of cytotrophoblast but not reflecting abnormal fetal karyotype

(2014) M. I. Srebniak et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

A prenatal case with discrepant findings between non-invasive prenatal testing and fetal genetic testings

(2014) Qiong Pan et al.   Molecular Cytogenetics

Fetal Aneuploidy Detection by Cell-Free DNA Sequencing for Multiple Pregnancies and Quality Issues with Vanishing Twins

(2014) Sebastian Grömminger et al.   Journal of Clinical Medicine

Maternal plasma DNA testing for aneuploidy in pregnancies achieved by assisted reproductive technologies

(2013) Geralyn Lambert-Messerlian et al.   GENETICS IN MEDICINE

Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma

(2013) Eric Wang et al.   PRENATAL DIAGNOSIS

Two cases of placental T21 mosaicism: challenging the detection limits of non-invasive prenatal testing

(2013) Yanlin Wang et al.   PRENATAL DIAGNOSIS

Discordant noninvasive prenatal testing results in a patient subsequently diagnosed with metastatic disease

(2013) C. Michael Osborne et al.   PRENATAL DIAGNOSIS

The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies

(2013) Jacob A. Canick et al.   PRENATAL DIAGNOSIS

False-negative trisomy 18 non-invasive prenatal test result due to 48,XXX,+18 placental mosaicism

(2013) Y. Gao et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Increased Death of Adipose Cells, a Path to Release Cell-Free DNA Into Systemic Circulation of Obese Women

(2012) Maricela Haghiac et al.   Obesity

Fetal aneuploidy screening by maternal plasma DNA sequencing: ‘False positive’ due to confined placental mosaicism

(2012) H. Choi et al.   PRENATAL DIAGNOSIS

Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks' gestation: relation to maternal and fetal characteristics

(2012) G. Ashoor et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY