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Mrs Jones is 40 years old and finally has her long awaited pregnancy. Although s

ID: 817098 • Letter: M

Question

Mrs Jones is 40 years old and finally has her long awaited pregnancy. Although she is joyous, she's also fearful that she might have a deformed child due to her age. Therefore, she's been sent for a genetic work-up.
She's asking you what the test will show? Be sure to tell her about chromosomes, DNA, genes, what mutations are and how the genetic code directs protein synthesis. Mrs Jones is 40 years old and finally has her long awaited pregnancy. Although she is joyous, she's also fearful that she might have a deformed child due to her age. Therefore, she's been sent for a genetic work-up.
She's asking you what the test will show? Be sure to tell her about chromosomes, DNA, genes, what mutations are and how the genetic code directs protein synthesis.

Explanation / Answer

Genetic tests during pregnancy are used to screen for or detect specific inherited disorders in unborn babies. Medical and technological advances have now made it possible for early ultrasounds and blood tests to estimate the chance (or possible 'risk') of an unborn baby having a chromosomal (or genetic) abnormality. More involved tests such as 'chorionic villus sampling' (or CVS) and amniocentesis are able to diagnose a genetic disorder by examining a sample of cells obtained from inside the woman's uterus to 'map' the baby's chromosomes (or genes).ting were first introduced in the 1970's. However, over the last 5 to 10 years genetic tests have become an increasingly accepted part of routine pregnancy care, especially for women in their late 30's and early 40's. When genetic tests were first introduced for the reason of 'advanced maternal age', they were generally only offered to women 40 years or older (the woman's age being taken at the baby's due date, not at conception).

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