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Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 06/2014, Volume 370, Issue 26, pp. 2534 - 2536
Journal Article
Nature Medicine, ISSN 1078-8956, 03/2019, Volume 25, Issue 3, pp. 439 - 447
Current non-invasive prenatal screening is targeted toward the detection of chromosomal abnormalities in the fetus(1,2). However, screening for many dominant... 
MEDICINE, RESEARCH & EXPERIMENTAL | DIAGNOSIS | ACHONDROPLASIA | MATERNAL PLASMA | BIOCHEMISTRY & MOLECULAR BIOLOGY | GUIDELINES | SEX-CHROMOSOME ANEUPLOIDIES | FAMILY | CELL BIOLOGY | Predictive Value of Tests | Osteogenesis Imperfecta - diagnosis | Humans | Genetic Diseases, Inborn - genetics | Osteogenesis Imperfecta - genetics | Acrocephalosyndactylia - genetics | Lymphangioma, Cystic - genetics | Collagen Type I - genetics | Hydrops Fetalis - genetics | Thanatophoric Dysplasia - diagnosis | Acrocephalosyndactylia - diagnosis | Adult | Female | Genetic Diseases, Inborn - diagnosis | Thanatophoric Dysplasia - genetics | Abnormalities, Multiple - genetics | Achondroplasia - genetics | De Lange Syndrome - genetics | De Lange Syndrome - diagnosis | Lymphangioma, Cystic - diagnostic imaging | Achondroplasia - diagnosis | Prenatal Diagnosis | Hydrops Fetalis - diagnostic imaging | Abnormalities, Multiple - diagnostic imaging | Sequence Analysis, DNA | Pregnancy | Cell-Free Nucleic Acids | Ultrasonography, Prenatal | Nuchal Translucency Measurement | High-Throughput Nucleotide Sequencing | Bone and Bones - abnormalities | Medical colleges | Care and treatment | Pregnant women | DNA | Analysis | Research | Health aspects | Statistical analysis | Abnormalities | Fetuses | Disorders | Genetic screening | Gene sequencing | Screening | Next-generation sequencing | Early experience | Genetics | Mutation | Ultrasound | Deoxyribonucleic acid--DNA | DNA sequencing | Index Medicus
Journal Article
American journal of obstetrics and gynecology, ISSN 0002-9378, 05/2019
Sequencing cell-free DNA in maternal plasma is an effective noninvasive prenatal testing technique that has been used in fetal aneuploidy screening worldwide.... 
Journal Article
Genetics in Medicine, ISSN 1098-3600, 03/2019, Volume 21, Issue 3, pp. 613 - 621
Purpose: With the description of circulating fetal DNA in maternal blood, noninvasive prenatal diagnostics became theoretically possible. As the presence of... 
Cell-free DNA | DIP-STR | DNA mixture | Noninvasive prenatal testing | Paternity testing | DIGITAL PCR | SIZE | Cellfree DNA | NUCLEIC-ACIDS | PATERNALLY INHERITED ALLELES | EXCLUSION | PATERNITY | NONINVASIVE PRENATAL-DIAGNOSIS | PROGRESS | GENETICS & HEREDITY | CELL-FREE DNA | Prenatal development | Genetic testing |