Biomaterial Database

Non-invasive prenatal testing. 2017

James Harraway

BACKGROUND Non-invasive prenatal testing (NIPT), also known as cell-free DNA testing and non-invasive prenatal screening (NIPS), is an important addition to the range of screening tests for fetal chromosomal abnormalities. For trisomy 21 in particular, NIPT is superior to other screening modalities. However, NIPT has limitations and complexities that requesting clinicians and their patients should understand. OBJECTIVE This review article will briefly describe the technical basis of NIPT assays and compare the performance characteristics of NIPT with existing screening tests. The clinical use of NIPT will also be discussed. CONCLUSIONS NIPT is now an established option for antenatal screening for trisomy 21, 18, 13 and other selected chromosomal abnormalities. If used appropriately, it increases the detection rate for fetal chromosomal abnormalities, while decreasing the number of invasive tests required. An understanding of the scientific basis of NIPT, and the appropriate clinical use and limitations, will enable medical practitioners to provide optimal antenatal screening.

UI	MeSH Term	Description	Entries
D011247	Pregnancy	The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.	Gestation,Pregnancies
D011296	Prenatal Diagnosis	Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.	Diagnosis, Prenatal,Fetal Diagnosis,Fetal Imaging,Fetal Screening,Intrauterine Diagnosis,Antenatal Diagnosis,Antenatal Screening,Diagnosis, Antenatal,Diagnosis, Intrauterine,Prenatal Screening,Antenatal Diagnoses,Antenatal Screenings,Diagnosis, Fetal,Fetal Diagnoses,Fetal Imagings,Fetal Screenings,Imaging, Fetal,Intrauterine Diagnoses,Prenatal Diagnoses,Prenatal Screenings,Screening, Antenatal,Screening, Fetal,Screening, Prenatal
D004314	Down Syndrome	A chromosome disorder associated either with an extra CHROMOSOME 21 or an effective TRISOMY for chromosome 21. Clinical manifestations include HYPOTONIA, short stature, BRACHYCEPHALY, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, single transverse palmar crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)	Mongolism,Trisomy 21,47,XX,+21,47,XY,+21,Down Syndrome, Partial Trisomy 21,Down's Syndrome,Partial Trisomy 21 Down Syndrome,Trisomy 21, Meiotic Nondisjunction,Trisomy 21, Mitotic Nondisjunction,Trisomy G,Downs Syndrome,Syndrome, Down,Syndrome, Down's
D005260	Female		Females
D005820	Genetic Testing	Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.	Genetic Predisposition Testing,Genetic Screening,Predictive Genetic Testing,Predictive Testing, Genetic,Testing, Genetic Predisposition,Genetic Predictive Testing,Genetic Screenings,Genetic Testing, Predictive,Predisposition Testing, Genetic,Screening, Genetic,Screenings, Genetic,Testing, Genetic,Testing, Genetic Predictive,Testing, Predictive Genetic
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000073839	Trisomy 13 Syndrome	A chromosome disorder associated with TRISOMY of all or part of CHROMOSOME 13. Clinical manifestations include CONGENITAL HEART DEFECTS (e.g., PATENT DUCTUS ARTERIOSUS), facial malformations (e.g., CLEFT LIP; CLEFT PALATE; COLOBOMA; MICROPHTHALMIA); HYPOTONIA, digit malformations (e.g., POLYDACTYLY or SYNDACTYLY), and SEIZURES and severe INTELLECTUAL DISABILITY associated with NERVOUS SYSTEM MALFORMATIONS.	Bartholin-Patau Syndrome,Chromosome 13 Duplication,Chromosome 13 Trisomy Syndrome,Complete Trisomy 13 Syndrome,Mosaic Trisomy 13 Syndrome,Patau Syndrome,Patau's Syndrome,Trisomy 13,Trisomy 13 Syndromes,Bartholin Patau Syndrome,Chromosome 13 Duplications,Duplication, Chromosome 13,Pataus Syndrome
D000073842	Trisomy 18 Syndrome	A chromosome disorder associated with TRISOMY of all or part of CHROMOSOME 18. Clinical manifestations include INTRAUTERINE GROWTH RETARDATION; CLEFT PALATE; CONGENITAL HEART DEFECTS; MICROCEPHALY; MICROGNATHIA and clenched fists with overlapping fingers. Most affected fetuses do not survive to birth. Those who survive through their first year often have severe INTELLECTUAL DISABILITY.	Complete Trisomy 18 Syndrome,Edwards Syndrome,Mosaic Trisomy 18 Syndrome,Trisomy 18,Trisomy E Syndrome,Trisomy 18 Syndromes
D000073888	Cell-Free Nucleic Acids	Nucleic acids (DNA or RNA) found circulating in SERUM; PLASMA; or other BODY FLUIDS.	Circulating Cell-Free Nucleic Acid,Circulating Nucleic Acid,Cell-Free DNA,Cell-Free Deoxyribonucleic Acid,Cell-Free Nucleic Acid,Cell-Free RNA,Cell-Free Ribonucleic Acid,Circulating Cell-Free Nucleic Acids,Circulating DNA,Circulating Nucleic Acids,Circulating RNA,cfDNA,cfRNA,cirDNA,cirRNA,Acid, Cell-Free Deoxyribonucleic,Acid, Cell-Free Ribonucleic,Acid, Circulating Nucleic,Acids, Circulating Nucleic,Cell Free DNA,Cell Free Deoxyribonucleic Acid,Cell Free Nucleic Acid,Cell Free Nucleic Acids,Cell Free RNA,Cell Free Ribonucleic Acid,Circulating Cell Free Nucleic Acid,Circulating Cell Free Nucleic Acids,DNA, Cell-Free,DNA, Circulating,Deoxyribonucleic Acid, Cell-Free,Nucleic Acid, Cell-Free,Nucleic Acid, Circulating,Nucleic Acids, Cell-Free,Nucleic Acids, Circulating,RNA, Cell-Free,RNA, Circulating,Ribonucleic Acid, Cell-Free
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults