Published reports

Clinical and validation studies

Noninvasive Prenatal Testing for Trisomy 21, 18 and 13 - Clinical Experience from 146,958 PregnanciesAccurate description of non-invasive prenatal DNA testingNoninvasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencingClinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factorsPrenatal Detection of Aneuploidy and Imbalanced Chromosomal Arrangements by Massively Parallel SequencingNoninvasive Fetal Trisomy NIPT by GenePlanet test is an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidiesNon invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing large scale validity studyNoninvasive Prenatal Diagnosis of Fetal Trisomy 18 and Trisomy 13 by Maternal Plasma DNA SequencingFeasibility study of semiconductor sequencing for noninvasive prenatal detection of fetal aneuploidyNoninvasive prenatal testing of trisomies 21 and 18Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescueFalse-negative trisomy 18 non-invasive prenatal test result due to 48,XXX,+18 placental mosaicismSecondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole-genome sequencing as a clinical service

Twins pregnancies

Effective Noninvasive Zygosity Determination by Maternal Plasma Target Region Sequencing

Deletions syndromes

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

Monogenic diseases

Noninvasive Prenatal Detection for Pathogenic CNVs: The Application in a-ThalassemiaIntegration of targeted sequencing and NIPT into clinical practice in a Chinese family with Maple syrup urine diseaseHaplotype-assisted accurate noninvasive fetal whole-genome recovery through maternal plasma sequencing

Aneuplodies

Non-invasive prenatal screening of fetal sex chromosomal abnormalities: perspective of pregnant womenNoninvasive prenatal genetic testing for fetal aneuploidy detects maternal trisomy X

Pregnancy inborn deformations

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