[HTML][HTML] Causes of aberrant non-invasive prenatal testing for aneuploidy: A systematic review

O Samura, A Okamoto - Taiwanese Journal of Obstetrics and Gynecology, 2020 - Elsevier
Non-invasive prenatal testing (NIPT) is performed worldwide to detect common
chromosomal aneuploidies. The analysis of cell-free DNA (cfDNA) in maternal blood for …

Update on noninvasive prenatal testing: A review based on current worldwide research

O Samura - Journal of Obstetrics and Gynaecology Research, 2020 - Wiley Online Library
Eight years have passed since noninvasive prenatal testing (NIPT) was clinically evaluated
and data on NIPT for trisomy 21, 18 and 13 were collected. The data revealed that NIPT is …

[HTML][HTML] Prenatal cell-free DNA screening test failures: a systematic review of failure rates, risks of Down syndrome, and impact of repeat testing

GE Palomaki, EM Kloza - Genetics in Medicine, 2018 - Elsevier
Purpose We systematically reviewed the published literature on test failure rates for the
sequencing of cell-free DNA (cfDNA) in maternal plasma to identify Down syndrome …

Classification of factors involved in nonreportable results of noninvasive prenatal testing (NIPT) and prediction of success rate of second NIPT

N Suzumori, A Sekizawa, E Takeda… - Prenatal …, 2019 - Wiley Online Library
Objective To evaluate the reasons for nonreportable cell‐free DNA (cfDNA) results in
noninvasive prenatal testing (NIPT), we retrospectively studied maternal characteristics and …

Retrospective details of false-positive and false-negative results in non-invasive prenatal testing for fetal trisomies 21, 18 and 13

N Suzumori, A Sekizawa, E Takeda, O Samura… - European Journal of …, 2021 - Elsevier
Objective Maternal characteristics and neonatal outcomes associated with cell-free DNA
(cfDNA) results were analysed retrospectively to assess the details of false-positive and …

Equipoise of recent estimated Down syndrome live births in Japan

A Sasaki, H Sago - American Journal of Medical Genetics Part …, 2019 - Wiley Online Library
To support people with Down syndrome (DS), it is essential to know and predict the number
of live births of children with this condition. In this study, we estimated DS live birth rates on …

Courtesy stigma of parents of children with Down syndrome: Adaptation process and transcendent stage

M Watanabe, C Kibe, M Sugawara… - Journal of Genetic …, 2022 - Wiley Online Library
Courtesy stigma, which arises from close connections to people with stigmatized
characteristics, negatively affects interpersonal relations. This study aimed to evaluate …

Fetal cell-free DNA fraction in maternal plasma for the prediction of hypertensive disorders of pregnancy

N Suzumori, A Sekizawa, T Ebara, O Samura… - European Journal of …, 2018 - Elsevier
Objective The purpose of this study is to compare the fetal fractions during non-invasive
prenatal testing (NIPT) in singleton pregnancies according to gestational age and maternal …

Nonreportable rates and cell‐free DNA profiles in noninvasive prenatal testing among women with heparin treatment

N Nakamura, A Sasaki, M Mikami… - Prenatal …, 2020 - Wiley Online Library
Objective To evaluate the “nonreportable” rate in patients treated with heparin and to
determine the effect of heparin on the results of noninvasive prenatal testing (NIPT). Method …

[HTML][HTML] Autonomous trisomic rescue of Down syndrome cells

M Inoue, K Kajiwara, A Yamaguchi, T Kiyono… - Laboratory …, 2019 - Elsevier
Down syndrome is the most frequent chromosomal abnormality among live-born infants. All
Down syndrome patients have mental retardation and are prone to develop early onset …