MGD week 4
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10 questions
| 🇬🇧 | 🇬🇧 |
| 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 |