Screening, ISSN 0925-6164, 1992
Journal
2000, 2nd ed., ISBN 0192628267, xxii, 591
The options in antenatal and neonatal care are legion. Preferences still tend to be subjective. In spite of much publicity that has raised public expectation,...
Pregnancy | Prenatal diagnosis | Newborn infants | Diagnosis | Complications | Diseases | Problems areas | Antenatal screening | Neontal screening | Technical procedures | Efficacy | Abnormality detection | Safety | Research needs
Pregnancy | Prenatal diagnosis | Newborn infants | Diagnosis | Complications | Diseases | Problems areas | Antenatal screening | Neontal screening | Technical procedures | Efficacy | Abnormality detection | Safety | Research needs
Book
1991, ISBN 0309044286, x, 146
Book
2010, 1, ISBN 9781405191432, viii, 121
In utero diagnosis has undergone an amazing revolution in recent years. More tests are available; the indications for prenatal diagnosis have expanded - you...
Book
1991, ISBN 0309044286, x, 146
Book
2017, Routledge studies in the sociology of health and illness, ISBN 9781138959132, xvi, 199 pages
In the UK and beyond, Down’s syndrome screening has become a universal programme in prenatal care. But why does screening persist, particularly in light of...
Down syndrome | Health & Society | Diagnostic Tests, Routine - ethics | Genetic screening
Down syndrome | Health & Society | Diagnostic Tests, Routine - ethics | Genetic screening
Book
Placenta, ISSN 0143-4004, 2010, Volume 32, Issue 1, pp. S42 - S48
Abstract Background Antenatal screening for aneuploidy is an established routine clinical practice worldwide. The same statistical methodology, developed and...
Internal Medicine | Obstetrics and Gynecology | Screening | Risk | Aneuploidy | Pre-eclampsia | Markers | HYPERTENSIVE DISORDERS | PREGNANCY COMPLICATIONS | 1ST-TRIMESTER MATERNAL SERUM | DEVELOPMENTAL BIOLOGY | OBSTETRICS & GYNECOLOGY | UTERINE ARTERY DOPPLER | REPRODUCTIVE BIOLOGY | DOWN-SYNDROME | PLACENTAL PROTEIN 13 | PAPP-A | 1ST TRIMESTER | PLASMA-PROTEIN | INTRAUTERINE GROWTH RESTRICTION | Diagnostic Techniques, Obstetrical and Gynecological - standards | Prognosis | Genetic Testing - standards | Humans | Genetic Testing - methods | Mass Screening - methods | Pregnancy | Prenatal Diagnosis - standards | Pre-Eclampsia - blood | Sensitivity and Specificity | Female | Prenatal Diagnosis - methods | Pre-Eclampsia - diagnosis
Internal Medicine | Obstetrics and Gynecology | Screening | Risk | Aneuploidy | Pre-eclampsia | Markers | HYPERTENSIVE DISORDERS | PREGNANCY COMPLICATIONS | 1ST-TRIMESTER MATERNAL SERUM | DEVELOPMENTAL BIOLOGY | OBSTETRICS & GYNECOLOGY | UTERINE ARTERY DOPPLER | REPRODUCTIVE BIOLOGY | DOWN-SYNDROME | PLACENTAL PROTEIN 13 | PAPP-A | 1ST TRIMESTER | PLASMA-PROTEIN | INTRAUTERINE GROWTH RESTRICTION | Diagnostic Techniques, Obstetrical and Gynecological - standards | Prognosis | Genetic Testing - standards | Humans | Genetic Testing - methods | Mass Screening - methods | Pregnancy | Prenatal Diagnosis - standards | Pre-Eclampsia - blood | Sensitivity and Specificity | Female | Prenatal Diagnosis - methods | Pre-Eclampsia - diagnosis
Journal Article
1993, ISBN 0952270102, vii, 115
Book
OBSTETRICS AND GYNECOLOGY, ISSN 0029-7844, 05/2016, Volume 127, Issue 5, pp. E123 - E137
Prenatal genetic screening is designed to assess whether a patient is at increased risk of having a fetus affected by a genetic disorder. In contrast, prenatal...
1ST-TRIMESTER | MATERNAL PLASMA | ULTRASOUND | DOWN-SYNDROME | 2ND-TRIMESTER | MARKERS | HUMAN CHORIONIC-GONADOTROPIN | NUCHAL TRANSLUCENCY | CELL-FREE DNA | PRENATAL-DIAGNOSIS | OBSTETRICS & GYNECOLOGY
1ST-TRIMESTER | MATERNAL PLASMA | ULTRASOUND | DOWN-SYNDROME | 2ND-TRIMESTER | MARKERS | HUMAN CHORIONIC-GONADOTROPIN | NUCHAL TRANSLUCENCY | CELL-FREE DNA | PRENATAL-DIAGNOSIS | OBSTETRICS & GYNECOLOGY
Journal Article
1996, Medical ethics series., ISBN 9780253332134, xii, 248
Book
1994, ISBN 0521452716, xii, 346
Book
Ultrasound in Obstetrics and Gynecology, ISSN 0960-7692, 03/2005, Volume 25, Issue 3, pp. 221 - 226
Objectives To evaluate the performance of first‐trimester screening for trisomy 21 by a combination of maternal age, fetal nuchal translucency (NT) and...
tricuspid regurgitation | screening | nuchal translucency | nasal bone | ductus venosus | trisomy 21 | pregnancy‐associated plasma protein‐A | free β‐human chorionic gonadotropin | pregnancy-associated plasma protein-A | OBSTETRICS & GYNECOLOGY | free beta-human chorionic gonadotropin | ACOUSTICS | ULTRASOUND | GESTATION | FETAL NASAL BONE | DOWN-SYNDROME | VENOSUS BLOOD-FLOW | ABSENCE | FETUSES | CHROMOSOMAL-ABNORMALITIES | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | Predictive Value of Tests | Pregnancy-Associated Plasma Protein-A - analysis | Risk Assessment | Humans | Chorionic Gonadotropin, beta Subunit, Human - blood | Pregnancy Trimester, First | Pregnancy | Ultrasonography, Prenatal | Adolescent | Adult | Female | Down Syndrome - diagnosis | Prenatal Diagnosis - methods
tricuspid regurgitation | screening | nuchal translucency | nasal bone | ductus venosus | trisomy 21 | pregnancy‐associated plasma protein‐A | free β‐human chorionic gonadotropin | pregnancy-associated plasma protein-A | OBSTETRICS & GYNECOLOGY | free beta-human chorionic gonadotropin | ACOUSTICS | ULTRASOUND | GESTATION | FETAL NASAL BONE | DOWN-SYNDROME | VENOSUS BLOOD-FLOW | ABSENCE | FETUSES | CHROMOSOMAL-ABNORMALITIES | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | Predictive Value of Tests | Pregnancy-Associated Plasma Protein-A - analysis | Risk Assessment | Humans | Chorionic Gonadotropin, beta Subunit, Human - blood | Pregnancy Trimester, First | Pregnancy | Ultrasonography, Prenatal | Adolescent | Adult | Female | Down Syndrome - diagnosis | Prenatal Diagnosis - methods
Journal Article
1999, ISBN 9780309062862, xiii, 397
Book
Epidemiologic Reviews, ISSN 0193-936X, 2011, Volume 33, Issue 1, pp. 148 - 164
Current approaches to genetic screening include newborn screening to identify infants who would benefit from early treatment, reproductive genetic screening to...
genetics, medical | genomics | neonatal screening | heterozygote detection | prenatal diagnosis | genetic testing | medical | NEWBORN | DOWNS-SYNDROME | PHENYLKETONURIA | GENOMIC HYBRIDIZATION ACGH | SERUM ALPHA-FETOPROTEIN | BIRTH PREVALENCE | IMPACT | PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH | genetics | CYSTIC-FIBROSIS | HEALTH | PRENATAL-DIAGNOSIS | Genetic Testing | Humans | Prenatal Diagnosis | Pregnancy | Mass Screening | Diagnostic Errors | Down Syndrome - genetics | Female | Primary Health Care | Down Syndrome - diagnosis | Genetic Predisposition to Disease - epidemiology | Genetic Carrier Screening | Infant, Newborn
genetics, medical | genomics | neonatal screening | heterozygote detection | prenatal diagnosis | genetic testing | medical | NEWBORN | DOWNS-SYNDROME | PHENYLKETONURIA | GENOMIC HYBRIDIZATION ACGH | SERUM ALPHA-FETOPROTEIN | BIRTH PREVALENCE | IMPACT | PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH | genetics | CYSTIC-FIBROSIS | HEALTH | PRENATAL-DIAGNOSIS | Genetic Testing | Humans | Prenatal Diagnosis | Pregnancy | Mass Screening | Diagnostic Errors | Down Syndrome - genetics | Female | Primary Health Care | Down Syndrome - diagnosis | Genetic Predisposition to Disease - epidemiology | Genetic Carrier Screening | Infant, Newborn
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 02/2014, Volume 370, Issue 9, pp. 799 - 808
Sequencing of fetal DNA in maternal blood to detect trisomies had a significantly lower false positive rate than the standard method of biochemical assay and...
POPULATION | MEDICINE, GENERAL & INTERNAL | 1ST-TRIMESTER | TRISOMIES 21 | MATERNAL PLASMA | CONFINED PLACENTAL MOSAICISM | EXPERIENCE | TRISOMY-21 | FREE FETAL DNA | CELL-FREE DNA | BLOOD | Chromosomes, Human, Pair 13 - genetics | Plasma | Predictive Value of Tests | Humans | Aneuploidy | False Positive Reactions | Genetic Testing - methods | Chromosome Disorders - diagnosis | Adult | Female | Down Syndrome - diagnosis | Risk Factors | Maternal Serum Screening Tests | Pregnancy | Trisomy - diagnosis | Trisomy - genetics | Nuchal Translucency Measurement | Down Syndrome - genetics | Trisomy 18 Syndrome | Trisomy 13 Syndrome | High-Throughput Nucleotide Sequencing | Chromosomes, Human, Pair 18 - genetics | Prenatal Diagnosis - methods | Sequence Analysis, DNA - methods | Chromosome Disorders - genetics | Usage | Prenatal diagnosis | Nucleotide sequencing | Comparative analysis | Methods | DNA sequencing | Trisomy | Genetic disorders | Risk groups | Fetuses | Karyotypes | Prenatal development | Patau's syndrome | Medical screening | Deoxyribonucleic acid--DNA
POPULATION | MEDICINE, GENERAL & INTERNAL | 1ST-TRIMESTER | TRISOMIES 21 | MATERNAL PLASMA | CONFINED PLACENTAL MOSAICISM | EXPERIENCE | TRISOMY-21 | FREE FETAL DNA | CELL-FREE DNA | BLOOD | Chromosomes, Human, Pair 13 - genetics | Plasma | Predictive Value of Tests | Humans | Aneuploidy | False Positive Reactions | Genetic Testing - methods | Chromosome Disorders - diagnosis | Adult | Female | Down Syndrome - diagnosis | Risk Factors | Maternal Serum Screening Tests | Pregnancy | Trisomy - diagnosis | Trisomy - genetics | Nuchal Translucency Measurement | Down Syndrome - genetics | Trisomy 18 Syndrome | Trisomy 13 Syndrome | High-Throughput Nucleotide Sequencing | Chromosomes, Human, Pair 18 - genetics | Prenatal Diagnosis - methods | Sequence Analysis, DNA - methods | Chromosome Disorders - genetics | Usage | Prenatal diagnosis | Nucleotide sequencing | Comparative analysis | Methods | DNA sequencing | Trisomy | Genetic disorders | Risk groups | Fetuses | Karyotypes | Prenatal development | Patau's syndrome | Medical screening | Deoxyribonucleic acid--DNA
Journal Article
Prenatal diagnosis, ISSN 0197-3851, 1981
Journal
Circulation, ISSN 0009-7322, 03/2017, Volume 135, Issue 11, pp. 1045 - 1055
BACKGROUND:The study analyzed the impact of first-trimester screening on the spectrum of congenital heart defects (CHDs) later in pregnancy and on the outcome...
first-trimester screening | epidemiology | prenatal cardiology | echocardiography | congenital heart defects | DIAGNOSIS | DEFECTS | CARDIAC & CARDIOVASCULAR SYSTEMS | ABNORMALITIES | CHROMOSOMAL-ANOMALIES | AORTIC-STENOSIS | MALFORMATIONS | PERIPHERAL VASCULAR DISEASE | 1ST TRIMESTER | FETAL | NUCHAL TRANSLUCENCY | Pregnancy Trimester, Second | Fetus - diagnostic imaging | Echocardiography | Comorbidity | Humans | Pregnancy Trimester, First | Pregnancy | Heart Defects, Congenital - genetics | Czech Republic | Ultrasonography, Prenatal | Chromosome Aberrations | Heart Defects, Congenital - epidemiology | Female | Heart Defects, Congenital - diagnosis | Retrospective Studies | Medical examination | Pregnant women | Analysis | Outcome and process assessment (Health Care) | Fetus | Congenital heart disease | Diagnosis | Health aspects
first-trimester screening | epidemiology | prenatal cardiology | echocardiography | congenital heart defects | DIAGNOSIS | DEFECTS | CARDIAC & CARDIOVASCULAR SYSTEMS | ABNORMALITIES | CHROMOSOMAL-ANOMALIES | AORTIC-STENOSIS | MALFORMATIONS | PERIPHERAL VASCULAR DISEASE | 1ST TRIMESTER | FETAL | NUCHAL TRANSLUCENCY | Pregnancy Trimester, Second | Fetus - diagnostic imaging | Echocardiography | Comorbidity | Humans | Pregnancy Trimester, First | Pregnancy | Heart Defects, Congenital - genetics | Czech Republic | Ultrasonography, Prenatal | Chromosome Aberrations | Heart Defects, Congenital - epidemiology | Female | Heart Defects, Congenital - diagnosis | Retrospective Studies | Medical examination | Pregnant women | Analysis | Outcome and process assessment (Health Care) | Fetus | Congenital heart disease | Diagnosis | Health aspects
Journal Article
1975, ISBN 9780309024037, xv, 388
Book
2009, ISBN 0801891515, xvi, 354
Book
European Journal of Human Genetics, ISSN 1018-4813, 01/2012, Volume 20, Issue 1, pp. 27 - 32
Spinal muscular atrophy (SMA) is a leading inherited cause of infant death with a reported incidence of similar to 1 in 10 000 live births and is second to...
pan-ethnic | carrier screening | SMN1 | spinal muscular atrophy (SMA) | COPIES | DEPENDENT PROBE AMPLIFICATION | SMA | BIOCHEMISTRY & MOLECULAR BIOLOGY | PHENOTYPE | IDENTIFICATION | QUANTITATIVE-ANALYSIS | COPY NUMBER | GENETICS & HEREDITY | Muscular Atrophy, Spinal - diagnosis | United States - epidemiology | Humans | Male | Genetic Counseling | Genetic Testing - methods | Genetic Carrier Screening - methods | DNA Copy Number Variations | Muscular Atrophy, Spinal - genetics | Ethnic Groups - genetics | Survival of Motor Neuron 1 Protein - genetics | Adult | Female | Prenatal Diagnosis - statistics & numerical data | Reproducibility of Results | United States - ethnology | Genetic Testing - standards | Muscular Atrophy, Spinal - ethnology | Gene Frequency | Muscular Atrophy, Spinal - epidemiology | Genotype | Sequence Analysis, DNA | Fetus - cytology | Prenatal Diagnosis - standards | Mutation | Prenatal Diagnosis - methods | Laboratories | Families & family life | Cystic fibrosis | Family medical history | Minority & ethnic groups | Population genetics | Genetic screening | Hereditary diseases | Spinal muscular atrophy | Ethnicity | Prenatal diagnosis | Genetic counseling | Gene frequency | Alleles | Ethnic groups | Fibrosis | Population | Genetics | Quantitative analysis
pan-ethnic | carrier screening | SMN1 | spinal muscular atrophy (SMA) | COPIES | DEPENDENT PROBE AMPLIFICATION | SMA | BIOCHEMISTRY & MOLECULAR BIOLOGY | PHENOTYPE | IDENTIFICATION | QUANTITATIVE-ANALYSIS | COPY NUMBER | GENETICS & HEREDITY | Muscular Atrophy, Spinal - diagnosis | United States - epidemiology | Humans | Male | Genetic Counseling | Genetic Testing - methods | Genetic Carrier Screening - methods | DNA Copy Number Variations | Muscular Atrophy, Spinal - genetics | Ethnic Groups - genetics | Survival of Motor Neuron 1 Protein - genetics | Adult | Female | Prenatal Diagnosis - statistics & numerical data | Reproducibility of Results | United States - ethnology | Genetic Testing - standards | Muscular Atrophy, Spinal - ethnology | Gene Frequency | Muscular Atrophy, Spinal - epidemiology | Genotype | Sequence Analysis, DNA | Fetus - cytology | Prenatal Diagnosis - standards | Mutation | Prenatal Diagnosis - methods | Laboratories | Families & family life | Cystic fibrosis | Family medical history | Minority & ethnic groups | Population genetics | Genetic screening | Hereditary diseases | Spinal muscular atrophy | Ethnicity | Prenatal diagnosis | Genetic counseling | Gene frequency | Alleles | Ethnic groups | Fibrosis | Population | Genetics | Quantitative analysis
Journal Article
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