Non-invasive prenatal testing to detect chromosome aneuploidies in 57,204 pregnancies

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Non-invasive prenatal testing.

BACKGROUND Non-invasive prenatal testing (NIPT), also known as cell-free DNA testing and non-invasive prenatal screening (NIPS), is an important addition to the range of screening tests for fetal chromosomal abnormalities. For trisomy 21 in particular, NIPT is superior to other screening modalities. However, NIPT has limitations and complexities that requesting clinicians and their patients sho...

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Non-invasive prenatal testing for fetal aneuploidies in the first trimester of pregnancy.

OBJECTIVES To evaluate the feasibility of non-invasive prenatal testing (NIPT) of maternal plasma samples collected from pregnant Chinese women in early gestation, between 8 + 0 and 12 + 6 weeks' gestation. METHODS In this pilot study, 212 women with high-risk pregnancies were recruited at a single Chinese Hospital. Fetal aneuploidies associated with chromosomes 21, 18, 13, X and Y were detec...

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Non-Invasive Prenatal Diagnosis in Twin Pregnancies: Current Status

The objective of this review is to assess the evidence which supports the use of non-invasive prenatal diagnosis (NIPD) in twin pregnancies. Through the years, we have witnessed the technological developments in non-invasive prenatal diagnosis attained new heights, but those studies were usually limited in singleton pregnancies. As we known, twin pregnancies are at higher risk in both aneuploid...

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Clinical utility of non‐invasive prenatal testing in pregnancies with ultrasound anomalies

OBJECTIVE To evaluate the application of non-invasive prenatal testing (NIPT) as an alternative to invasive diagnostic prenatal testing in pregnancies with abnormal ultrasound findings. METHODS This was a retrospective analysis of 251 singleton and multiple pregnancies at high risk for fetal chromosomal abnormality based on findings at sonographic examination, in which NIPT was performed as a...

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Yuval Yaron1,2,*, and Rachel Michaelson-Cohen3,4 1Prenatal Genetic Diagnosis Unit, Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel 2Sackler Faculty of Medicine, Tel Aviv University, Israel 3Department of Obstetrics & Gynecology, Shaare Zedek Medical Center, Hebrew University of Jerusalem, Israel 4Medical Genetics Institute, Shaare Zedek Medical Center, Hebrew University of...

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ژورنال

عنوان ژورنال: Molecular Cytogenetics

سال: 2019

ISSN: 1755-8166

DOI: 10.1186/s13039-019-0441-5