L8: Prevention of Genetic Diseases Flashcards
(80 cards)
1
Q
The Ways of Prevention of Genetic Disorders inculde ……
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2
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Def of Genetic Counseling
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- It is a communication process which deals with estimating the risk of developing or transmitting a genetic Disorders
3
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Goals of Genetic Counseling
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Indications of Genetic Counseling
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5
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Steps of Genetic Counseling
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6
Q
What is the most important step in any genetic Consultation?
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Diagnosis
7
Q
Reaching a diagnosis in clinical genetics usually involves the 3 basic steps of any medical consultation which are …..
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8
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Genetic Counseling
- Risk Assessment
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9
Q
Genetic Counseling
- Understanding the Options
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10
Q
Genetic Counseling
- Choosing The Course of Action
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11
Q
Genetic Counseling
- Long-Term Contact & Support
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12
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Technique of Genetic Counseling
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13
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Role of Geneticist
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14
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Indications of Carrier (Heterozygote) Detection
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- Certain Diseases
- Target Families
15
Q
Indications of Carrier (Heterozygote) Detection
- Certain Diseases
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- Cystic fibrosis
- thalassemia
- sickle cell anemia
- FVLeiden
- FXS
- Tay-Sachs
- canavan
16
Q
Indications of Carrier (Heterozygote) Detection
- Target Families
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17
Q
Benefits of Carrier detection of close relatives of patients with XR or AR disorders
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18
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Clinical Importance of Carrier Screening in Individuals of certain groups (AR Disorders)
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- Where certain AR disorders are common, there is usually no known prior history of the disease in either side of the family
19
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Examples of Carrier Screening in Individuals of certain groups (AR Disorders)
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- Sickle cell anemia in blacks
- Thalassemia in Mediterranean areas
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Therapeutic Importance for Carrier (Heterozygotes) Screening
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- Knowledge of their carrier status may help persons to take appropriate therapeutic or preventive health precautions
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Examples of Therapeutic Importance for Carrier (Heterozygotes) Screening
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22
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Methods Used for Carrier Detection
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23
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Introduction to prenatal Diagnosis
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24
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Techniques of Prenatal Dx
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Timing of **Amniocentesis**
Around the 16th week of gestation
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Technique of **Amniocentesis**
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Uses of **Amniocentesis**
- Cells for karyotyping & DNA
- Supernatant fluid for metabolites assay
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Indications of **Amniocentesis**
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Risk of Miscarriage in **Amniocentesis**
0.5 - 1 %
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Timing of ****Chorionic Villous Sampling****
Best perormed at 10th -11th Weeks gestation
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Technique of **Chorionic Villous Sampling**
Trans-cervical or trans-abdomina aspiration of Chorionic villi
**US Guided**
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Indications of **Chorionic Villous Sampling**
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Complications of **Chorionic Villous Sampling**
if done before 9th week of gestation
- Transverse limb abnormalities in the embryo may Occur
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Risk of Misccariage in **Chorionic Villous Sampling**
1 - 2 %
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Timing of Fetal Blood Sampling **PUBS**
from 17th weeks gestation to near term
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Technique of Fetal Blood Sampling **PUBS**
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Indications of Fetal Blood Sampling **PUBS**
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Risk of Miscarriage of Fetal Blood Sampling **PUBS**
2%
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Timing of **Fetoscopy**
During the 2nd trimester
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Technique of **Fetoscopy**
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Uses of **Fetoscopy**
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Indications of **Fetoscopy**
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Risk of Miscarriage in **Fetoscopy**
3-5 %
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Techniques of Prenatal Dx, Timing & Risk of Miscarriage
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Timing of **US** in Prenatal Dx
The best time for US screening is between 16 - 18 weeks gestation
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Uses of **US** in Prenatal Dx
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Uses of **Detailed US** in Prenatal Dx
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Indications of **Detailed US** in Prenatal Dx
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The detection by ultrasound of a placental or fetal anomaly may prompt additional studies, including karyotyping, For example .....
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Timing of **Maternal Serum Screening**
Sampling obtained at the 16th week
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Uses of **Maternal Serum Screening**
It is offered for neural tube defect (60% detection) & Down syndrome (60-75% detection)
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Indications of **Maternal Serum Screening**
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Causes of elevated maternal alpha fetoprotein
- Anencephaly
- Multiple pregnancy
- Open spina bifida
- Abdominal wall defect
- Congenital nephrotic syndrome
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Maternal Serum Screening for Detection of Down Syndrome
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What are **New Prenatal Diagnostic Techniques**?
- Pre-implanhfion Cenefic Diagnosis (PCD)
- Detection of fetal cells in Maternal Circulation
- 1st Trimester Screening for Aneuploidy
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**Pre-Implantation Genetic Diagnosis**
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Detection of Fetal cells in Maternal Circulation
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1st Trimester Screening for aneuploidy
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Termination of Pregnancy
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Def of **Neonatal Screening**
- Screening is a process of identifying apparently healthy people who may be at increased risk of a disease or condition
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Significance of **Neonatal Screening**
- They can then be offered information, further tests and appropriate treatmell to reduce their risk &/or any complications arising from the disease or condition
- A screening test doesn't diagnose a particular condition, but merely sort the population into test + ve and test - ve groups
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Types of **Neonatal Screening**
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Specimens for **Neonatal Screening**
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Specimens for **Neonatal Screening**
- Dried Blood
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Specimens for **Neonatal Screening**
- Dried Urine
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Newborn Screening for
- Congenital Hypothyroidism
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Newborn Screening for
- SCD
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Newborn Screening for
- Congenital Toxoplasmosis
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Confirmatory Test in **Neonatal Screening**
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WHO Criteria for poulation Screening
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Newborn Baby Screening in Egypt
- test
Blood Sample
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Newborn Baby Screening in Egypt
- Time
3-7 Days After Birth
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Newborn Baby Screening in Egypt
- Method
Mothers of all newborn babies are offered testing for certain conditions by testing a blood spot taken from the baby's heel
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Newborn Baby Screening in Egypt
- Diseases
- PKU
- Congenital Hypothyroidism
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Def of **PKU**
It's an amino acidopathy
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Cause of **PKU**
- It is caused by deficiency of phenylalanine hydroxylase, which converts phenylalanine to tyrosine
- This will lead to accumulation of phenylalanine
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Manifestations of **PKU**
If untreated:
- Microcephaly
- Seizures
- Learning difficulties
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TTT of **PKU**
- A low protein diet, so restricting intake of phenylalanine in conjunction with a phenylalanine-free amino acid supplement
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Screening for Hypothyroidism
- By TSH
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Screening for Hypothyroidism
- By T4
