PMID: 469894Jun 1, 1979Paper

Sixteen years' experience of counselling, diagnosis, and prenatal detection in one genetic centre: progress, results, and problems

Journal of Medical Genetics
P E POLANIJ D Singer

Abstract

The work of one Genetic Centre over 16 years, covering about 14 000 kinships, is described. The numbers registered in a year increased from an average of 477 in the early 1960s to 1612 in 1976/1977. The increase is largely, but not entirely, attributable to the advent of prenatal diagnosis, and an account is given of our experience with this. In 1916 patients who had a successful amniocentesis, results indicative of fetal abnormality were found in 4.3% and a balanced translocation was found in an additional 0.9%. Results indicative of fetal abnormality were found in 3.5% of mothers referred because of a maternal age of 40 or more, 3.9% referred because of a high risk of neural tube defect, and 19.3% referred because of a high risk of an inborn error of metabolism. A number of cases with difficult diagnostic problems are described.

References

Mar 1, 1975·Journal of Medical Genetics·M J Seller
Jun 1, 1975·Journal of Medical Genetics·A Adinolfi Lessof
Jun 1, 1976·Journal of Medical Genetics·M F NiermeijerH Galjaard
Jan 1, 1976·Advances in Pathobiology·K Hirschhorn
Nov 5, 1977·Lancet·M J Seller
Sep 4, 1976·Lancet·P E POLANIJ D Singer
Jul 22, 1978·Lancet·M A Ferguson-Smith
Jan 6, 1979·Lancet·E AlbermanP E POLANI
Jun 22, 1978·The New England Journal of Medicine·L B Holmes
Feb 7, 1977·Biochemical and Biophysical Research Communications·A H FensomL Jacobs
Oct 29, 1977·British Medical Journal·J PhilipM Madsen
Jun 1, 1977·Journal of Medical Genetics·S BluntC A Williams
Nov 3, 1977·The New England Journal of Medicine
Sep 27, 1976·JAMA : the Journal of the American Medical Association
Oct 30, 1975·The New England Journal of Medicine·A Milunsky
Nov 16, 1974·British Medical Journal·A H FensomS Blunt
Oct 10, 1970·Lancet·G Kohn, A Robinson
May 1, 1969·Annals of Human Genetics·P E POLANI, N Polani

Citations

Oct 27, 2006·Human Genetics·Peter S Harper
Jul 21, 1979·Lancet·P F BensonP E POLANI
Jan 1, 1981·Journal of Biosocial Science·A R Boon
Jul 1, 1987·Journal of Biosocial Science·E V DavisonD F Roberts
Jan 1, 1985·Social Biology·B F SealsJ W Hanson
Apr 1, 1980·Journal of Medical Genetics·T WebbR A Thompson
Dec 1, 1981·Journal of Medical Genetics·A W Johnston
Nov 1, 1985·Prenatal Diagnosis·E TerzianA C Turnbull
Sep 25, 1995·American Journal of Medical Genetics·M S Verp, P S Heckerling
Jan 1, 1982·American Journal of Medical Genetics·S AyméF Giraud
Feb 8, 2006·Prenatal Diagnosis·M J H WillisM C Jones
May 6, 2008·Personality and Social Psychology Review : an Official Journal of the Society for Personality and Social Psychology, Inc·Robert Kurzban, C Athena Aktipis
Dec 1, 1980·Clinical Genetics·P M MingD M Goodner

Related Concepts

Congenital Abnormality
Amniocentesis
Genetic Counseling, Prenatal
Antenatal Screening Procedures
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.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Lipidomics & Rhinovirus Infection

Lipidomics can be used to examine the lipid species involved with pathogenic conditions, such as viral associated inflammation. Discovered the latest research on Lipidomics & Rhinovirus Infection.

Spatio-Temporal Regulation of DNA Repair

DNA repair is a complex process regulated by several different classes of enzymes, including ligases, endonucleases, and polymerases. This feed focuses on the spatial and temporal regulation that accompanies DNA damage signaling and repair enzymes and processes.

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.

Torsion Dystonia

Torsion dystonia is a movement disorder characterized by loss of control of voluntary movements appearing as sustained muscle contractions and/or abnormal postures. Here is the latest research.

Archaeal RNA Polymerase

Archaeal RNA polymerases are most similar to eukaryotic RNA polymerase II but require the support of only two archaeal general transcription factors, TBP (TATA-box binding protein) and TFB (archaeal homologue of the eukaryotic general transcription factor TFIIB) to initiate basal transcription. Here is the latest research on archaeal RNA polymerases.

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.

Central Pontine Myelinolysis

Central Pontine Myelinolysis is a neurologic disorder caused most frequently by rapid correction of hyponatremia and is characterized by demyelination that affects the central portion of the base of the pons. Here is the latest research on this disease.