PMID: 58990Jun 1, 1976

Prenatal diagnosis of genetic disorders

Journal of Medical Genetics
M F NiermeijerH Galjaard

Abstract

Three hundred and fifty pregnancies were monitored by transabdominal amniocentesis in the fourteenth to sixteenth week of gestation followed by karyotyping or biochemica assays of cultured amniotic fluid cells and analysis of alpha-fetoprotein in the amniotic fluid supernatant. The pregnancy was interrupted in 36 cases (10%) either becasue of a fetal abnormality or the presence of a male fetus in pregnancies at risk for an X-linked disease. Four chromosomal aberrations were found in 87 pregnancies tested because of advanced maternal age. In 101 pregnancies with a recurrence risk of Down's syndrome, 2 fetuses with an abnormal karyotype were detected. In 11 cases, in which 1 parent was a carrier of a balanced translocation, 2 unbalanced fetal karyotypes were found. Fetal chromosome studies in 43 pregancies at risk for an X-linked disease indicated the presence of a male fetus in 21 cases. Prenatal diagnosis of 11 different metabolic diseases was performed in a total of 34 cases. Microchemical techniques were used to allow completion of the diagnosis of seven different enzyme deficiencies within 9 to 22 days after amniocentesis. Alpha-fetoprotein assay in the amniotic fluid supernatant of 47 pregnancies at risk for an open neural ...Continue Reading

References

Feb 1, 1972·The Journal of Pediatrics·N B KardonK Hirschhorn
Feb 19, 1966·Lancet·M W Steele, W R Breg
Mar 27, 1969·The New England Journal of Medicine·J C FratantoniC B Jacobson
Dec 13, 1969·Lancet·H L Nadler, A M Messina
Mar 1, 1974·American Journal of Obstetrics and Gynecology·B K BurtonH L Nadler
Oct 1, 1973·Archives of Biochemistry and Biophysics·C W Hall, E F Neufeld
Jun 1, 1974·The Journal of Pediatrics·A Milunsky, E Alpert
Apr 20, 1974·The Medical Journal of Australia·B FieldC Kerr
Nov 15, 1967·American Journal of Obstetrics and Gynecology·C B Jacobson, R H Barter
Oct 9, 1971·British Medical Journal·M E Ferguson-SmithM Stone
Jan 1, 1972·Annual Review of Medicine·A Milunsky, J W Littlefield
Jun 1, 1973·Journal of Medical Genetics·L Y HsuK Hirschhorn
Aug 1, 1973·American Journal of Obstetrics and Gynecology·G H PrescottA Nicholas
Apr 1, 1973·Annals of Human Genetics·K HirschhornI Wallace
Feb 1, 1974·American Journal of Obstetrics and Gynecology·T A DoranS I Liedgren
Dec 27, 1973·Clinica Chimica Acta; International Journal of Clinical Chemistry·H GaljaardM F Niermeijer
Jan 1, 1974·Acta Obstetricia Et Gynecologica Scandinavica. Supplement·J PhilipJ Weber
May 1, 1974·Annals of Human Genetics·P A JacobsJ Syme
Jan 1, 1974·Clinical Genetics·J WahlströmJ Lundberg
Aug 1, 1973·Journal of Cellular Physiology·H Eagle
Jun 16, 1974·Life Sciences·L Y Hsu, K Hirschhorn
Jun 1, 1973·The Journal of Pediatrics·M M KabackA K Percy
Jun 28, 1973·The New England Journal of Medicine·J G LeroyC Navarro
Aug 1, 1973·American Journal of Obstetrics and Gynecology·A RobinsonA Greenshur
May 30, 1973·Clinica Chimica Acta; International Journal of Clinical Chemistry·U WendelH W Rüdiger
Jun 1, 1974·Metabolism: Clinical and Experimental·L J ElsasB A Pask
Jun 19, 1974·Clinica Chimica Acta; International Journal of Clinical Chemistry·J ButterworthA D Bain
Jul 2, 1970·The New England Journal of Medicine·J S O'BrienD L Fillerup
Jan 1, 1972·Experimental Cell Research·C A RyanH L Nadler
Oct 2, 1971·British Medical Journal·R Navon, B Padeh
Dec 1, 1971·Journal of Medical Genetics·S B RussellJ W Littlefield
Jan 1, 1973·TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik·H H PunnettG Kohn

Citations

Jan 1, 1978·American Journal of Medical Genetics·L Y HsuK Hirschhorn
Jul 1, 1987·Journal of Biosocial Science·E V DavisonD F Roberts
Feb 1, 1979·Clinical Genetics·W J KleijerM F Niermeijer
Jan 16, 1995·American Journal of Medical Genetics·J H KnollJ Wagstaff
Dec 1, 1980·Clinical Genetics·P M MingD M Goodner
Sep 17, 2014·Journal of Genetic Counseling·Regina NuccioClaire N Singletary
Jan 1, 1985·Human Genetics·G Kosztolányi, E M Bühler
Jan 1, 1981·American Journal of Medical Genetics·N H SunH S Tang
Nov 1, 1977·British Journal of Obstetrics and Gynaecology·B GoldmanB Padeh

Related Concepts

Alpha-Fetoproteins
Amniocentesis
Amniotic Fluid Index
Autosome Abnormalities
Karyotype Determination Procedure
Genetic Linkage Analysis
Inborn Errors of Metabolism
Sex Chromosomes
Autosomal Chromosome Disorders
Genetic Diseases, Inborn

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Alzheimer's Disease: MS4A

Variants within the membrane-spanning 4-domains subfamily A (MS4A) gene cluster have recently been implicated in Alzheimer's disease in genome-wide association studies. Here is the latest research on Alzheimer's disease and MS4A.

Pediculosis pubis

Pediculosis pubis is a disease caused by a parasitic insect known as Pthirus pubis, which infests human pubic hair, as well as other areas with hair including eye lashes. Here is the latest research.

Rh Isoimmunization

Rh isoimmunization is a potentially preventable condition that occasionally is associated with significant perinatal morbidity or mortality. Discover the latest research on Rh Isoimmunization here.

Genetic Screens in iPSC-derived Brain Cells

Genetic screening is a critical tool that can be employed to define and understand gene function and interaction. This feed focuses on genetic screens conducted using induced pluripotent stem cell (iPSC)-derived brain cells. It also follows CRISPR-Cas9 approaches to generating genetic mutants as a means of understanding the effect of genetics on phenotype.

Enzyme Evolution

This feed focuses on molecular models of enzyme evolution and new approaches (such as adaptive laboratory evolution) to metabolic engineering of microorganisms. Here is the latest research.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Pharmacology of Proteinopathies

This feed focuses on the pharmacology of proteinopathies - diseases in which proteins abnormally aggregate (i.e. Alzheimer’s, Parkinson’s, etc.). Discover the latest research in this field with this feed.

Alignment-free Sequence Analysis Tools

Alignment-free sequence analyses have been applied to problems ranging from whole-genome phylogeny to the classification of protein families, identification of horizontally transferred genes, and detection of recombined sequences. Here is the latest research.

© 2021 Meta ULC. All rights reserved