Maternal mortality with uncorrected coarctation has been reported as 3% in an early series,
and is higher in the presence of associated cardiac defects, aortopathy, or longstanding …

Objective To examine the association between increased nuchal translucency thickness and
major cardiac defects in chromosomally normal fetuses. Setting Tertiary referral unit for fetal …

First‐cousin marriage may be a significant risk factor for specific types of congenital heart
disease in a consanguineous population. Inbreeding studies suggest an autosomal …

The causes of congenital heart malformations are complex and include a major contribution
by genetic factors. These can be considered under the headings of chromosomal, single …

Objective To evaluate the effectiveness of nuchal translucency (NT) measurement in
screening for major congenital heart disease (CHD) in chromosomally normal fetuses …

Objectives: Conotruncal malformations (CTMs) are a major feature of 22q11 microdeletion
(22qdel). The prevalence of 22qdel in fetuses harboring these defects is unknown. We …

Background Transposition of the great arteries (TGA) is considered to be associated only
rarely with genetic syndromes and to have a low risk of precurrence among relatives of …

Background: Congenital heart defects (CHDs) occur in approximately 1% of all live births.
Although most CHDs are of unknown etiology, a family history of CHDs is a known risk …

ContextFew systematic data exist on survival and reproduction among males with birth
defects and their contribution to occurrence of birth defects in the next generation …

Methods This review is based on our research and clinical experience in human genetics,
pathology, and medicine. Citations for the topics discussed derive from literature searches in …