The condition that is not typically classified as an inborn error of metabolism among the options provided is Thalassaemia.
Inborn errors of metabolism (IEMs) are genetic disorders resulting from specific enzyme deficiencies that disrupt metabolic pathways. These conditions are inherited and affect the body's ability to process certain substances.
Therefore, Thalassaemia stands out as it primarily affects hemoglobin structure/production rather than a distinct metabolic pathway commonly associated with IEMs like PKU, Galactosaemia, or Wilson's disease.
Consider the following statements regarding non-invasive prenatal screening (NIPS) for screening high risk pregnancies for aneuploidies:
1. It is carried out on maternal blood.
2. It is done before 10 weeks gestation.
3. It has a negative predictive value of about 98%.
4. Invasive testing is needed for confirmation of a positive test.
Which of the statements given above are correct?
Which of the following are examples of genomic imprinting?
1. Angelman syndrome
2. Williams syndrome
3. Prader-Willi syndrome
4. DiGeorge syndrome
Select the correct answer using the code given below: