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Journal Article
Journal Article
Molecular Diagnosis and Therapy, ISSN 1177-1062, 04/2019, Volume 23, Issue 2, pp. 291 - 299
Non-invasive prenatal diagnosis (NIPD) is based on fetal DNA analysis starting from a simple peripheral blood sample, thus avoiding risks associated with... 
DIGITAL PCR SYSTEM | CLINICAL-PERFORMANCE | SINGLE-GENE DISORDERS | MATERNAL PLASMA | GENETICS & HEREDITY | COLD-PCR | PHARMACOLOGY & PHARMACY | 1ST TRIMESTER | NUCLEATED ERYTHROCYTES | BETA-THALASSEMIA | CIRCULATORY DNA | CELL-FREE DNA
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
Journal Article
BJOG: An International Journal of Obstetrics & Gynaecology, ISSN 1470-0328, 01/2017, Volume 124, Issue 1, pp. 32 - 46
Journal Article