Biomaterial Database

Laboratory screening for genetic disorders and birth defects. 1994

F J Bamforth

Department of Laboratory Medicine and Pathology, University of Alberta Hospitals, Edmonton, Canada.

Screening for inherited disease is a preventative health measure that started in the 1960s with the development of programs for the detection of PKU in newborns and that has had a major impact on reducing the burden of disease. Developments in technology have led to the availability of large scale testing for an increasing number of both acquired and genetic disorders. Laboratory testing is only one facet of a screening program and consideration should be given to availability of testing to all individuals, education regarding the program, effectiveness of treatment, long-term benefits both for individuals and society, ethical issues, and cost benefits. In this review, newborn, prenatal, and heterozygote screening are discussed.

UI	MeSH Term	Description	Entries
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
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
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
D006580	Genetic Carrier Screening	Identification of individuals who are heterozygous at a GENETIC LOCUS for a recessive PHENOTYPE.	Carriers, Genetic, Detection,Genetic Carriers, Detection,Heterozygote Detection,Carrier Detection, Genetic,Detection, Genetic Carrier,Genetic Carrier Detection,Heterozygote Screening,Carrier Screening, Genetic,Detection, Heterozygote,Screening, Genetic Carrier,Screening, Heterozygote,Screenings, Genetic Carrier
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000013	Congenital Abnormalities	Malformations of organs or body parts during development in utero.	Birth Defects,Congenital Defects,Deformities,Fetal Anomalies,Fetal Malformations,Abnormalities, Congenital,Defects, Congenital,Abnormality, Congenital,Anomaly, Fetal,Birth Defect,Congenital Abnormality,Congenital Defect,Defect, Birth,Defect, Congenital,Deformity,Fetal Anomaly,Fetal Malformation,Malformation, Fetal
D019411	Clinical Laboratory Techniques	Techniques used to carry out clinical investigative procedures in the diagnosis and therapy of disease.	Clinical Laboratory Test,Clinical Laboratory Testing,Clinical Laboratory Diagnoses,Clinical Laboratory Testings,Clinical Laboratory Tests,Diagnoses and Laboratory Examinations,Diagnosis, Laboratory,Laboratory Diagnosis,Laboratory Examinations and Diagnoses,Laboratory Techniques, Clinical,Clinical Laboratory Technique,Diagnose, Clinical Laboratory,Laboratory Diagnoses,Laboratory Technique, Clinical,Laboratory Test, Clinical,Laboratory Testing, Clinical,Technique, Clinical Laboratory,Test, Clinical Laboratory,Testing, Clinical Laboratory
D030342	Genetic Diseases, Inborn	Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.	Hereditary Diseases,Genetic Diseases,Genetic Disorders,Hereditary Disease,Inborn Genetic Diseases,Single-Gene Defects,Defect, Single-Gene,Defects, Single-Gene,Disease, Genetic,Disease, Hereditary,Disease, Inborn Genetic,Diseases, Genetic,Diseases, Hereditary,Diseases, Inborn Genetic,Disorder, Genetic,Disorders, Genetic,Genetic Disease,Genetic Disease, Inborn,Genetic Disorder,Inborn Genetic Disease,Single Gene Defects,Single-Gene Defect

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