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Y4R1 - Pediatrics I 👶 > L8: Prevention of Genetic Diseases > Flashcards

L8: Prevention of Genetic Diseases Flashcards

1
Q

The Ways of Prevention of Genetic Disorders inculde ……

A
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2
Q

Def of Genetic Counseling

A
  • It is a communication process which deals with estimating the risk of developing or transmitting a genetic Disorders
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3
Q

Goals of Genetic Counseling

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4
Q

Indications of Genetic Counseling

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5
Q

Steps of Genetic Counseling

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6
Q

What is the most important step in any genetic Consultation?

A

Diagnosis

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7
Q

Reaching a diagnosis in clinical genetics usually involves the 3 basic steps of any medical consultation which are …..

A
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8
Q

Genetic Counseling

  • Risk Assessment
A
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9
Q

Genetic Counseling

  • Understanding the Options
A
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10
Q

Genetic Counseling

  • Choosing The Course of Action
A
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11
Q

Genetic Counseling

  • Long-Term Contact & Support
A
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12
Q

Technique of Genetic Counseling

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13
Q

Role of Geneticist

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14
Q

Indications of Carrier (Heterozygote) Detection

A
  • Certain Diseases
  • Target Families
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15
Q

Indications of Carrier (Heterozygote) Detection

  • Certain Diseases
A
  • Cystic fibrosis
  • thalassemia
  • sickle cell anemia
  • FVLeiden
  • FXS
  • Tay-Sachs
  • canavan
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16
Q

Indications of Carrier (Heterozygote) Detection

  • Target Families
A
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17
Q

Benefits of Carrier detection of close relatives of patients with XR or AR disorders

A
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18
Q

Clinical Importance of Carrier Screening in Individuals of certain groups (AR Disorders)

A
  • Where certain AR disorders are common, there is usually no known prior history of the disease in either side of the family
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19
Q

Examples of Carrier Screening in Individuals of certain groups (AR Disorders)

A
  • Sickle cell anemia in blacks
  • Thalassemia in Mediterranean areas
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20
Q

Therapeutic Importance for Carrier (Heterozygotes) Screening

A
  • Knowledge of their carrier status may help persons to take appropriate therapeutic or preventive health precautions
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21
Q

Examples of Therapeutic Importance for Carrier (Heterozygotes) Screening

A
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22
Q

Methods Used for Carrier Detection

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23
Q

Introduction to prenatal Diagnosis

A
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24
Q

Techniques of Prenatal Dx

A
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25
Q

Timing of Amniocentesis

A

Around the 16th week of gestation

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26
Q

Technique of Amniocentesis

A
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27
Q

Uses of Amniocentesis

A
  • Cells for karyotyping & DNA
  • Supernatant fluid for metabolites assay
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28
Q

Indications of Amniocentesis

A
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29
Q

Risk of Miscarriage in Amniocentesis

A

0.5 - 1 %

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30
Q

Timing of Chorionic Villous Sampling

A

Best perormed at 10th -11th Weeks gestation

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31
Q

Technique of Chorionic Villous Sampling

A

Trans-cervical or trans-abdomina aspiration of Chorionic villi

US Guided

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32
Q

Indications of Chorionic Villous Sampling

A
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33
Q

Complications of Chorionic Villous Sampling

A

if done before 9th week of gestation

  • Transverse limb abnormalities in the embryo may Occur
34
Q

Risk of Misccariage in Chorionic Villous Sampling

A

1 - 2 %

35
Q

Timing of Fetal Blood Sampling PUBS

A

from 17th weeks gestation to near term

36
Q

Technique of Fetal Blood Sampling PUBS

A
37
Q

Indications of Fetal Blood Sampling PUBS

A
38
Q

Risk of Miscarriage of Fetal Blood Sampling PUBS

A

2%

39
Q

Timing of Fetoscopy

A

During the 2nd trimester

40
Q

Technique of Fetoscopy

A
41
Q

Uses of Fetoscopy

A
42
Q

Indications of Fetoscopy

A
43
Q

Risk of Miscarriage in Fetoscopy

A

3-5 %

44
Q

Techniques of Prenatal Dx, Timing & Risk of Miscarriage

A
45
Q

Timing of US in Prenatal Dx

A

The best time for US screening is between 16 - 18 weeks gestation

46
Q

Uses of US in Prenatal Dx

A
47
Q

Uses of Detailed US in Prenatal Dx

A
48
Q

Indications of Detailed US in Prenatal Dx

A
49
Q

The detection by ultrasound of a placental or fetal anomaly may prompt additional studies, including karyotyping, For example …..

A
50
Q

Timing of Maternal Serum Screening

A

Sampling obtained at the 16th week

51
Q

Uses of Maternal Serum Screening

A

It is offered for neural tube defect (60% detection) & Down syndrome (60-75% detection)

52
Q

Indications of Maternal Serum Screening

A
53
Q

Causes of elevated maternal alpha fetoprotein

A
  • Anencephaly
  • Multiple pregnancy
  • Open spina bifida
  • Abdominal wall defect
  • Congenital nephrotic syndrome
54
Q

Maternal Serum Screening for Detection of Down Syndrome

A
55
Q

What are New Prenatal Diagnostic Techniques?

A
  • Pre-implanhfion Cenefic Diagnosis (PCD)
  • Detection of fetal cells in Maternal Circulation
  • 1st Trimester Screening for Aneuploidy
56
Q

Pre-Implantation Genetic Diagnosis

A
57
Q

Detection of Fetal cells in Maternal Circulation

A
58
Q

1st Trimester Screening for aneuploidy

A
59
Q

Termination of Pregnancy

A
60
Q

Def of Neonatal Screening

A
  • Screening is a process of identifying apparently healthy people who may be at increased risk of a disease or condition
61
Q

Significance of Neonatal Screening

A
  • 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
62
Q

Types of Neonatal Screening

A
63
Q

Specimens for Neonatal Screening

A
64
Q

Specimens for Neonatal Screening

  • Dried Blood
A
65
Q

Specimens for Neonatal Screening

  • Dried Urine
A
66
Q

Newborn Screening for

  • Congenital Hypothyroidism
A
67
Q

Newborn Screening for

  • SCD
A
68
Q

Newborn Screening for

  • Congenital Toxoplasmosis
A
69
Q

Confirmatory Test in Neonatal Screening

A
70
Q

WHO Criteria for poulation Screening

A
71
Q

Newborn Baby Screening in Egypt

  • test
A

Blood Sample

72
Q

Newborn Baby Screening in Egypt

  • Time
A

3-7 Days After Birth

73
Q

Newborn Baby Screening in Egypt

  • Method
A

Mothers of all newborn babies are offered testing for certain conditions by testing a blood spot taken from the baby’s heel

74
Q

Newborn Baby Screening in Egypt

  • Diseases
A
  • PKU
  • Congenital Hypothyroidism
75
Q

Def of PKU

A

It’s an amino acidopathy

76
Q

Cause of PKU

A
  • It is caused by deficiency of phenylalanine hydroxylase, which converts phenylalanine to tyrosine
  • This will lead to accumulation of phenylalanine
77
Q

Manifestations of PKU

A

If untreated:

  • Microcephaly
  • Seizures
  • Learning difficulties
78
Q

TTT of PKU

A
  • A low protein diet, so restricting intake of phenylalanine in conjunction with a phenylalanine-free amino acid supplement
79
Q

Screening for Hypothyroidism

  • By TSH
A
80
Q

Screening for Hypothyroidism

  • By T4
A

Y4R1 - Pediatrics I 👶 (28 decks)

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