Creating basis for introducing non‐invasive prenatal testing in the Estonian public health setting

Non-invasive prenatal testing in detecting sex chromosome aneuploidy: A large-scale study in Xuzhou area of China

(2018) Feng Suo et al.   CLINICA CHIMICA ACTA

Non invasive prenatal diagnosis of fetal aneuploidy using cell free fetal DNA

(2018) Barbara Renga   European Journal of Obstetrics & Gynecology and Reproductive Biology

NIPTmer: rapid k-mer-based software package for detection of fetal aneuploidies

(2018) Martin Sauk et al.   Scientific Reports

TAC-seq: targeted DNA and RNA sequencing for precise biomarker molecule counting

(2018) Hindrek Teder et al.   npj Genomic Medicine

Challenges in non-invasive prenatal screening for sub-chromosomal copy number variations using cell-free DNA

(2017) Henna V. Advani et al.   PRENATAL DIAGNOSIS

Sex chromosome aneuploidy detection by noninvasive prenatal testing: helpful or hazardous?

(2017) Rosemary E. Reiss et al.   PRENATAL DIAGNOSIS

Analysis of cell-free fetal DNA in maternal blood for detection of trisomy 21, 18 and 13 in a general pregnant population and in a high risk population - a systematic review and meta-analysis

(2016) Erik Iwarsson et al.   ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics

(2016) Anthony R. Gregg et al.   GENETICS IN MEDICINE

Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part I-clinical impact

(2016) Dick Oepkes et al.   PRENATAL DIAGNOSIS

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

Uptake, outcomes, and costs of implementing non-invasive prenatal testing for Down’s syndrome into NHS maternity care: prospective cohort study in eight diverse maternity units

(2016) Lyn S Chitty et al.   BMJ-British Medical Journal

Uptake, outcomes, and costs of implementing non-invasive prenatal testing for Down’s syndrome into NHS maternity care: prospective cohort study in eight diverse maternity units

(2016) Lyn S Chitty et al.   BMJ-British Medical Journal

Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management

(2015) Baran Bayindir et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Committee Opinion No. 640

(2015)   OBSTETRICS AND GYNECOLOGY

Overview of the impact of noninvasive prenatal testing on diagnostic procedures

(2015) Steven L. Warsof 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

Clinical implementation of routine screening for fetal trisomies in the UKNHS: cell-free DNA test contingent on results from first-trimester combined test

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

Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis

(2015) R. Akolekar et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Fast gapped-read alignment with Bowtie 2

(2012) Ben Langmead et al.   NATURE METHODS

DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study

(2011) Glenn E. Palomaki et al.   GENETICS IN MEDICINE