Why increased nuchal translucency is associated with congenital heart disease: a systematic review on genetic mechanisms

Prenatal Diagnosis
Nicole B BurgerMonique C Haak

Abstract

This overview provides insight into the underlying genetic mechanism of the high incidence of cardiac defects in fetuses with increased nuchal translucency (NT). Nuchal edema, the morphological equivalent of increased NT, is likely to result from abnormal lymphatic development and is strongly related to cardiac defects. The underlying genetic pathways are, however, unknown. This study aims to present a systematic overview of genes involved in both cardiac and lymphatic development in mouse embryos. A search of PubMed and the Mammalian Phenotype Browser was performed. Fifteen candidate genes involved in both cardiac and lymphatic development were identified: Adrenomedullin; Chicken ovalbumin upstream promoter-transcription factor 2 (COUP-TFII); Cyp51; Ephrin-B2; Forkhead box protein C2 (Foxc2); Nuclear factor of activated T cells, cytoplasmic 1 (Nfatc1); Neurofibromatosis type 1 (Nf1); Phosphoinositide 3-kinase encoding isoform p110α (Pik3ca); Podoplanin; Prospero-related homeobox 1 (Prox1); T-box 1 (Tbx1); Tyrosine kinase with immunoglobulin-like and endothelial growth factor-like domains 1 (Tie1); vascular endothelial growth factor (Vegf)-A; Vegf receptor-3 (Vegfr-3); and Vascular endothelial zinc finger 1 (Vezf1). Mutations i...Continue Reading

References

Aug 1, 1995·Circulation Research·M L Kirby, K L Waldo
Apr 11, 1995·Proceedings of the National Academy of Sciences of the United States of America·A KaipainenK Alitalo
Jul 1, 1994·Nature Genetics·T JacksR A Weinberg
Sep 1, 1994·British Journal of Obstetrics and Gynaecology·K H NicolaidesR J Snijders
Dec 1, 1995·British Journal of Obstetrics and Gynaecology·P P PandyaK H Nicolaides
Apr 1, 1996·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·J HyettK H Nicolaides
Mar 17, 1997·American Journal of Medical Genetics·J HyettK Nicolaides
Dec 31, 1997·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·N MontenegroH Barros
Jul 23, 1998·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·A P SoukaK H Nicolaides
Jul 23, 1998·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·J M Van VugtR M Van Zalen-Sprock
Oct 9, 1998·Anatomy and Embryology·M E VerberneR E Poelmann
Aug 24, 1999·British Journal of Obstetrics and Gynaecology·N ZosmerK H Nicolaides
Nov 21, 2000·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·J M Simpson, G K Sharland
Mar 10, 2001·Nature Genetics·L A Jerome, V E Papaioannou
May 8, 2001·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·K Hecher
Oct 11, 2001·Proceedings of the National Academy of Sciences of the United States of America·M J KarkkainenK Alitalo
Feb 15, 2002·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·T GhiK H Nicolaides
Apr 2, 2002·Human Reproduction·Monique C HaakAdriana C Gittenberger-de Groot
Apr 3, 2002·The EMBO Journal·Jeffrey T WigleGuillermo Oliver
Jul 12, 2002·Genesis : the Journal of Genetics and Development·Alexey VeraksaWilliam McGinnis
Nov 13, 2002·The Journal of Biological Chemistry·Ehrin N JohnsonJoyce Bischoff
Dec 7, 2002·Nature Genetics·Aaron D GitlerJonathan A Epstein
Jan 23, 2003·Nature Medicine·Ingeborg StalmansPeter Carmeliet
Jan 25, 2003·Annals of the New York Academy of Sciences·Guillermom Oliver, Natasha Harvey
Jan 29, 2003·The Anatomical Record. Part A, Discoveries in Molecular, Cellular, and Evolutionary Biology·Yuval DorTodd D Camenisch
Apr 30, 2003·Human Molecular Genetics·Benjamin M KriedermanThomas W Glover
Jun 5, 2003·Nature Medicine·Ondine Cleaver, Douglas A Melton

❮ Previous
Next ❯

Citations

Sep 10, 2016·Molecular Cytogenetics·Malgorzata I SrebniakDiane Van Opstal
Mar 23, 2017·American Journal of Medical Genetics. Part a·Martina A SteurerLaura L Jelliffe-Pawlowski
Apr 11, 2018·Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology·Mei-Fang LinDong-Zhi Li
Feb 7, 2018·Cardiovascular Research·Maria Rita AssenzaFabio Naro
Mar 15, 2018·Current Opinion in Pediatrics·Edmund Burke, Sanjeev A Datar
Nov 22, 2017·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Julia AlanenJaana Nevalainen
Oct 14, 2017·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·M EgloffV Malan
Jun 22, 2021·Journal of Obstetrics and Gynaecology of India·Meena Bajaj LallI C Verma

❮ Previous
Next ❯

Related Concepts

Related Feeds

AKT Pathway

This feed focuses on the AKT serine/threonine kinase, which is an important signaling pathway involved in processes such as glucose metabolism and cell survival.

Arterial-Venous in Development & Disease

Arterial-venous development may play a crucial role in cardiovascular diseases. Here is the latest research.

Related Papers

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology
John Simpson, Gurleen Sharland
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology
G RizzoA Capponi
Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine
Yolanda M de MooijMireille N Bekker
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology
Ian C HuggonL Allan
© 2022 Meta ULC. All rights reserved