2012年10月

International Society for Prenatal Diagnosis ISPD

Prenat Diagn 2012;32:1-2

2012年6月

Association of Privately Practising Prenatal Medical Professionals BVNP

2012年11月

German Human Genetics Society GfH

2012年12月

The American College of Obstetricians and Gynecologists Committee on Genetics and The Society for Maternal-Fetal Medicine Publications Committee ACOG

Non-invasive Prenatal Testing for Trisomy 21, 18 and 13 - Clinical Experience from 146,958 Pregnancies

Accurate Description of DNA-Based Noninvasive Prenatal Screening

Noninvasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing

Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factors

Prenatal Detection of Aneuploidy and Imbalanced Chromosomal Arrangements by Massively Parallel Sequencing

Noninvasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies

Non invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing large scale validity study

Noninvasive Prenatal Diagnosis of Fetal Trisomy 18 and Trisomy 13 by Maternal Plasma DNA Sequencing

Feasibility study of semiconductor sequencing for noninvasive prenatal detection of fetal aneuploidy

Non-invasive Prenatal Testing of Trisomies 21 and 18 by Massively Parallel Sequencing of Maternal Plasma DNA in Twin Pregnancies

Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue

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

Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole-genome sequencing as a clinical service

Effective Noninvasive Zygosity Determination by Maternal Plasma Target Region Sequencing

A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing

Noninvasive Prenatal Detection for Pathogenic CNVs: The Application in a-Thalassemia

Integration of targeted sequencing and NIPT into clinical practice in a Chinese family with Maple syrup urine disease

Haplotype-assisted accurate noninvasive fetal whole-genome recovery through maternal plasma sequencing

Non-invasive prenatal screening of fetal sex chromosomal abnormalities: perspective of pregnant women

Noninvasive prenatal genetic testing for fetal aneuploidy detects maternal trisomy X

Noninvasive prenatal testing for autosomal recessive conditions by maternal plasma sequencing in a case of congenital deafness