Abnormal Development - Genetic

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Introduction

This page gives a general introduction to information about genetic abnormalities their relationship to age, ethnicity and prenatal testing. In developed countries with increasing maternal age comes the increased risk of age related genetic abnormalities, such as trisomy 21.

In order to detect some genetic abnormalities many countries offer genetic screening programs that include both Maternal serum screening (MSS, for detection of Down's syndrome and neural tube defects), Embryonic and Newborn screening (for phenylketonuria (PKU), hypothyroidism, cystic fibrosis and metabolic disorders).

In terms of maternal/paternal family history, some ethnic backgrounds have been shown to have disease-associated genetic variants, though most common genetic diseases are consistent across ethnic boundaries. For example: Caucasians of northern European ancestry and cystic fibrosis (CTFR gene), Mediterranean, Asian and Far Eastern ancestry with beta-thalassaemia. (More? Genetic Abnormalities - Ethnic)

Note that the development of in vitro fertilization techniques now allows cells from early stage blastocysts to be removed and genetically analysed prior to implantation. This has raised some ethical issues relating to what parameters will be in future used in blastocyst selection.

Abnormality Links: abnormal development | abnormal genetic | abnormal environmental | Unknown | teratogens | ectopic pregnancy | cardiovascular abnormalities | coelom abnormalities | endocrine abnormalities | gastrointestinal abnormalities | genital abnormalities | head abnormalities | integumentary abnormalities | musculoskeletal abnormalities | limb abnormalities | neural abnormalities | neural crest abnormalities | placenta abnormalities | renal abnormalities | respiratory abnormalities | hearing abnormalities | vision abnormalities | twinning | Developmental Origins of Health and Disease |  ICD-11
Historic Embryology  
1915 Congenital Cardiac Disease | 1917 Frequency of Anomalies in Human Embryos | 1920 Hydatiform Degeneration Tubal Pregnancy | 1921 Anencephalic Embryo | 1921 Rat and Man | 1966 Congenital Malformations

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Cite this page: Hill, M.A. (2021, September 21) Embryology Abnormal Development - Genetic. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Abnormal_Development_-_Genetic

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© Dr Mark Hill 2021, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G