To save content items to your account,
please confirm that you agree to abide by our usage policies.
If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account.
Find out more about saving content to .
To save content items to your Kindle, first ensure firstname.lastname@example.org
is added to your Approved Personal Document E-mail List under your Personal Document Settings
on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part
of your Kindle email address below.
Find out more about saving to your Kindle.
Note you can select to save to either the @free.kindle.com or @kindle.com variations.
‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi.
‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.
Congenital cardiac disease is the most common birth defect, occurring in approximately 1 in 1000 live births. Congenital cardiac defects have associations, whether with gender, race, or specific chromosomal abnormalities, potentially allowing grouping of defects to be studied in an effort to develop an understanding of aetiological factors. The Baltimore-Washington Infant Study provides full ascertainment of a population of infants with congenital cardiac disease born in a defined geographic region. The fundamental hypotheses generated at the inception of the Baltimore-Washington Infant Study included the central idea that the outcome of birth, including the development of congenital cardiac malformations, was influenced by environmental factors and their route of introduction into a genetically susceptible host. Evidence exists that supports the concept that both genetic and environmental factors contribute to the development of diseases of the left heart.
The main causes of female infertility are anovulation and anatomical causes such as obstruction in the genital tract. Many aspects of female reproductive function are strongly influenced by genetic factors. Androgen insensitivity syndrome is an X-linked disorder characterised by variable defects in virilisation of 46,XY individuals. A genetic contribution to spermatogenic failure is indicated by several families with multiple infertile or subfertile men. Klinefelter syndrome (47,XXY) is the most frequent cause of gonosomic anomalies, occurring in 0.1-0.2 % of newborn males. Chromosomal translocations are found with a frequency 8-10 times higher in infertile men and may be acrocentric Robertsonian translocations or reciprocal translocations. The prevalence among infertile men is high, from 5 % in those with severe oligozoospermia to 10 % in those with azoospermia. Understanding of the genetic basis of infertility is likely to increase dramatically in the future. New technologies are available that permit high-throughput detailed genetic analysis.
A small proportion of malignancies have a clear genetic aetiology resulting from mutations in genes inherited usually as an autosomal dominant trait. Risk assessment and genetic counselling around genetic testing and reproductive decision-making should be undertaken in a regional genetic service. If a mutation is identified within an individual, it should be confirmed in another affected member of the family, if possible. A predictive genetic test is then available for unaffected adult members of the family. Adoption or conception using donor gametes may be alternatives for families with genetic conditions who wish to avoid prenatal diagnosis. The issue of the appropriateness of prenatal diagnosis and of preimplantation genetic diagnosis (PGD) for inherited conditions with an onset in adulthood is controversial. PGD may be more acceptable than prenatal diagnosis as it obviates the need for termination of an affected pregnancy.
Email your librarian or administrator to recommend adding this to your organisation's collection.