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MGD week 4


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[Front]


Give out two classification of chromosomal abnormalities
[Back]


Numerical chromosomal abnormalities - polyploidy (triploidy, tetraploidy) - aneuploidy (monosomy, trisomy) Structural chromosomal abnormalities - Balanced (the exchange or rearrangement of genetic material does not cause any missing or extragenetic information) - Unbalanced (the structural chromosomal changes cause missing or extra genetic information)

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Give out two classification of chromosomal abnormalities
Numerical chromosomal abnormalities - polyploidy (triploidy, tetraploidy) - aneuploidy (monosomy, trisomy) Structural chromosomal abnormalities - Balanced (the exchange or rearrangement of genetic material does not cause any missing or extragenetic information) - Unbalanced (the structural chromosomal changes cause missing or extra genetic information)
Name three autosomal trisomies that are viable during pregnancy
Down Syndrome - trisomy 21 Edwards's syndrome - trisomy 18 Patau syndrome - trisomy 13
Aneuploidy of the sex chromosomes is relatively common. Name common syndromes caused by aneuploidy
Turners syndrome - 45,X Triple X syndrome - 47,XXX Klinefelter syndrome - 47,XXY and 47, XYY
Give the terms used for chromosome mutations within one chromosome and give definitions to those terms
Deletion - Loss of genetic material Duplication - some genetic material doubled Inversion - No loss of genetic material, but rearrangement of genetic material
What is the purpose of amniocentesis
Prenatal diagnostic of chromosomal abnormalities and to determine foetal infections
Describe the basic procedure of amniocentesis
Small amount of amniotic fluid is removed from amniotic sac - under ultrasound guidance - foetus between 15-20th weeks - Syringe through skin, fascia, uterine wall, and amniotic cavity at 90 degrees
How is chorionic fluid sampling different to amniocentesis
Instead of sampling amniotic fluid, sample of chorionic villus (placenta tissue) is taken for testing Placenta-highly vascular organ - allows nutrient uptake - gas exchange - homeostasis of developing foetus Transcervical or transabdominal approach depeding on the position of the placenta carried out during 10-12th weeks of gestation
Difference between screening and testing
Screening - applied on whole population - large number of asymptomatic, but potentially at risk individuals Testing - applied to either symptomatic individuals to establish diagnosis or - asymptomatic individuals with a positive screening test
Name six antenatal and newborn programmes in England
- sickle cell and thalassemia - fetal anomaly (downs, patau, edwards) - infectious diseases in pregnancy - newborn and infant physical examination - newborn blood spot (e.g. PKU, SCD, CF, CHT) - newborn hearing screening
Give out requirements for diagnostic tests
Parental and sibling DNA samples - blood or saliva DNA from foetus - isolated from amniotic fluid or chorionic villus biopsy, or from mother's blood