Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Goals of Genetic Counseling

A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Indications of Genetic Counseling

A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Steps of Genetic Counseling

A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What is the most important step in any genetic Consultation?

A

Diagnosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

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

A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Genetic Counseling

  • Risk Assessment
A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Genetic Counseling

  • Understanding the Options
A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Genetic Counseling

  • Choosing The Course of Action
A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Genetic Counseling

  • Long-Term Contact & Support
A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Technique of Genetic Counseling

A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Role of Geneticist

A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Indications of Carrier (Heterozygote) Detection

A
  • Certain Diseases
  • Target Families
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Indications of Carrier (Heterozygote) Detection

  • Certain Diseases
A
  • Cystic fibrosis
  • thalassemia
  • sickle cell anemia
  • FVLeiden
  • FXS
  • Tay-Sachs
  • canavan
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Indications of Carrier (Heterozygote) Detection

  • Target Families
A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

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

A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

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

A
  • Sickle cell anemia in blacks
  • Thalassemia in Mediterranean areas
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Examples of Therapeutic Importance for Carrier (Heterozygotes) Screening

A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Methods Used for Carrier Detection

A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Introduction to prenatal Diagnosis

A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Techniques of Prenatal Dx

A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Timing of Amniocentesis

A

Around the 16th week of gestation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Technique of Amniocentesis

A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Uses of Amniocentesis

A
  • Cells for karyotyping & DNA
  • Supernatant fluid for metabolites assay
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Indications of Amniocentesis

A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Risk of Miscarriage in Amniocentesis

A

0.5 - 1 %

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

Timing of Chorionic Villous Sampling

A

Best perormed at 10th -11th Weeks gestation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

Technique of Chorionic Villous Sampling

A

Trans-cervical or trans-abdomina aspiration of Chorionic villi

US Guided

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

Indications of Chorionic Villous Sampling

A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

35
Q

Timing of Fetal Blood Sampling PUBS

A

from 17th weeks gestation to near term

36
Q

Technique of Fetal Blood Sampling PUBS

37
Q

Indications of Fetal Blood Sampling PUBS

38
Q

Risk of Miscarriage of Fetal Blood Sampling PUBS

39
Q

Timing of Fetoscopy

A

During the 2nd trimester

40
Q

Technique of Fetoscopy

41
Q

Uses of Fetoscopy

42
Q

Indications of Fetoscopy

43
Q

Risk of Miscarriage in Fetoscopy

44
Q

Techniques of Prenatal Dx, Timing & Risk of Miscarriage

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

47
Q

Uses of Detailed US in Prenatal Dx

48
Q

Indications of Detailed US in Prenatal Dx

49
Q

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

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

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

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

57
Q

Detection of Fetal cells in Maternal Circulation

58
Q

1st Trimester Screening for aneuploidy

59
Q

Termination of Pregnancy

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

63
Q

Specimens for Neonatal Screening

64
Q

Specimens for Neonatal Screening

  • Dried Blood
65
Q

Specimens for Neonatal Screening

  • Dried Urine
66
Q

Newborn Screening for

  • Congenital Hypothyroidism
67
Q

Newborn Screening for

  • SCD
68
Q

Newborn Screening for

  • Congenital Toxoplasmosis
69
Q

Confirmatory Test in Neonatal Screening

70
Q

WHO Criteria for poulation Screening

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
80
Q

Screening for Hypothyroidism

  • By T4

Y4R1 - Pediatrics I 👶 (49 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions