Nature and frequency of chromosomal abnormalities in pregnancies with abnormal ultrasound findings: an analysis of 117 cases with review of the literature

Prenatal Diagnosis
S GagnonC Huot

Abstract

During a 7-year period, 117 fetal karyotypes were available from 131 genetic amniocenteses. These procedures were performed between 14 and 37 weeks' gestation for the following abnormal ultrasound findings: (1) intrauterine growth retardation (IUGR)--61 cases; (2) fetal malformation--71 cases; and (3) amniotic fluid volume (AFV) abnormality--60 cases. Chromosomal abnormalities were identified in 19 cases (16.2 per cent). Aneuploidy was 2.5 times as frequent in the presence of malformations than in their absence. No correlation was demonstrated between specific fetal malformations and specific chromosomal abnormalities. Aneuploidy was also twice as frequent in the presence of symmetrical IUGR than in its absence. No chromosomal abnormalities were found among eight cases of asymmetrical IUGR. Four cases of aneuploidy presented with isolated IUGR, three of these involving the X chromosome. The frequency of aneuploidy was the same with or without abnormalities of AFV (14.3 versus 16.4 per cent). No chromosomal abnormality was found associated with isolated AFV abnormalities.

References

Feb 12, 1976·The New England Journal of Medicine·L B HolmesL Atkins
Feb 8, 1986·Lancet·Kypros H NicolaidesC M Gosden
Mar 1, 1988·Clinical Obstetrics and Gynecology·A E Donnenfeld, M T Mennuti
Oct 1, 1987·Journal of Clinical Ultrasound : JCU·B R Benacerraf, J C Birnholz
Dec 1, 1988·Human Genetics·P MoermanJ Lauweryns
Jul 1, 1987·American Journal of Obstetrics and Gynecology·H J LandyJ W Larsen
Jun 1, 1987·Clinical Obstetrics and Gynecology·D Warburton
Oct 1, 1987·Prenatal Diagnosis·C G PalmerJ M Friedman
Dec 1, 1987·American Journal of Obstetrics and Gynecology·R M PattersonM R Pouliot
Aug 1, 1988·American Journal of Obstetrics and Gynecology·K A BergJ A Boughman
Feb 1, 1986·American Journal of Obstetrics and Gynecology·A S GardenH A Gardner
Jan 1, 1986·Prenatal Diagnosis·J C RutledgeR Santos-Ramos
Feb 1, 1986·Obstetrics and Gynecology·W T Mixson
Feb 1, 1970·Pediatric Clinics of North America·L E Reisman
Oct 1, 1983·British Medical Bulletin·S Campbell, J M Pearce
Oct 1, 1984·American Journal of Obstetrics and Gynecology·P F ChamberlainI R Lange
Jun 1, 1984·Radiology·B S MahonyM S Golbus
Oct 6, 1983·The New England Journal of Medicine·F A ChervenakM J Mahoney

Citations

Nov 12, 2013·Journal de gynécologie, obstétrique et biologie de la reproduction·L J Salomon, V Malan
Jul 21, 1998·Annals of the New York Academy of Sciences·H GrandjeanS Levi
Aug 29, 2014·Gynécologie, obstétrique & fertilité·S VanlieferinghenY Ville
Jul 19, 2015·European Journal of Medical Genetics·Lena Sagi-Dain, Shlomi Sagi
Nov 1, 1995·American Journal of Obstetrics and Gynecology·Y BarnhardM Y Divon
Sep 16, 2017·Journal of Perinatal Medicine·Ron BardinIdit Maya
Sep 1, 1994·Prenatal Diagnosis·C Julian-ReynierS Aymé
Apr 1, 2000·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·C V IsaksenS Skarsvåg

Related Concepts

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.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

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.

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.

Glut1 Deficiency

Glut1 deficiency, an autosomal dominant, genetic metabolic disorder associated with a deficiency of GLUT1, the protein that transports glucose across the blood brain barrier, is characterized by mental and motor developmental delays and infantile seizures. Follow the latest research on Glut1 deficiency with this feed.

Hereditary Sensory Autonomic Neuropathy

Hereditary Sensory Autonomic Neuropathies are a group of inherited neurodegenerative disorders characterized clinically by loss of sensation and autonomic dysfunction. Here is the latest research on these neuropathies.

Separation Anxiety

Separation anxiety is a type of anxiety disorder that involves excessive distress and anxiety with separation. This may include separation from places or people to which they have a strong emotional connection with. It often affects children more than adults. Here is the latest research on separation anxiety.

Neural Activity: Imaging

Imaging of neural activity in vivo has developed rapidly recently with the advancement of fluorescence microscopy, including new applications using miniaturized microscopes (miniscopes). This feed follows the progress in this growing field.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Related Papers

Journal de gynécologie, obstétrique et biologie de la reproduction
A-G CordierO Picone
Expert Review of Molecular Diagnostics
Thomas EggermannMiriam Elbracht
© 2021 Meta ULC. All rights reserved