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    Clinical Genetics Case Scenarios

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    محمد عزيز حسن ماضي
    1. The document discusses 12 case scenarios of fetal abnormalities detected on ultrasound scans. It provides discussion for each case including possible diagnoses, management, recurrence risk calculations, prenatal diagnosis options, prevention, and genetic counseling considerations. 2. The document then presents additional objectives and scenarios for understanding fetal assessment, ultrasound findings, making diagnoses, management, and applying genetic principles to daily clinical cases. 3. A second part of the document asks questions about a pregnant patient's family history of beta thalassemia and risk for an affected current or future pregnancy, as well as recurrence risks and testing options for other genetic conditions if the patient had a previously affected child.

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    Clinical Genetics Case Scenarios

    Uploaded by

    محمد عزيز حسن ماضي
    34 views29 pages
    1. The document discusses 12 case scenarios of fetal abnormalities detected on ultrasound scans. It provides discussion for each case including possible diagnoses, management, recurrence risk calculations, prenatal diagnosis options, prevention, and genetic counseling considerations. 2. The document then presents additional objectives and scenarios for understanding fetal assessment, ultrasound findings, making diagnoses, management, and applying genetic principles to daily clinical cases. 3. A second part of the document asks questions about a pregnant patient's family history of beta thalassemia and risk for an affected current or future pregnancy, as well as recurrence risks and testing options for other genetic conditions if the patient had a previously affected child.

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    1. The document discusses 12 case scenarios of fetal abnormalities detected on ultrasound scans. It provides discussion for each case including possible diagnoses, management, recurrence risk calculations, prenatal diagnosis options, prevention, and genetic counseling considerations. 2. The document then presents additional objectives and scenarios for understanding fetal assessment, ultrasound findings, making diagnoses, management, and applying genetic principles to daily clinical cases. 3. A second part of the document asks questions about a pregnant patient's family history of beta thalassemia and risk for an affected current or future pregnancy, as well as recurrence risks and testing options for other genetic conditions if the patient had a previously affected child.

    Copyright:

    © All Rights Reserved
    Download as PDF, TXT or read online from Scribd
    Download as pdf or txt
    34 views29 pages

    Clinical Genetics Case Scenarios

    Uploaded by

    محمد عزيز حسن ماضي
    1. The document discusses 12 case scenarios of fetal abnormalities detected on ultrasound scans. It provides discussion for each case including possible diagnoses, management, recurrence risk calculations, prenatal diagnosis options, prevention, and genetic counseling considerations. 2. The document then presents additional objectives and scenarios for understanding fetal assessment, ultrasound findings, making diagnoses, management, and applying genetic principles to daily clinical cases. 3. A second part of the document asks questions about a pregnant patient's family history of beta thalassemia and risk for an affected current or future pregnancy, as well as recurrence risks and testing options for other genetic conditions if the patient had a previously affected child.

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    Clinical Genetics

    Case Scenarios

    Part I
    Contents:
    • Introduction
    • Summary of fetal anomalies on US scans
    • Case 1 presentation
    • Discussion
    • Case 2 presentation
    • Discussion

    Discussion includes:
    Diagnosis, management, recurrence risk
    calculation, prenatal diagnosis, prevention,
    genetic counseling
    Objectives:
    Every student, following this session, should be able to:

    1. Appreciates the significance of US in fetal


    assessment during pregnancy
    2. Recognize the important fetal anomalies on US scan
    3. Interpret the signs in relation to their cause
    4. Reach a specific diagnosis / DDx from the signs
    5. Follow the management steps from diagnosis
    onwards
    6. Apply the basic rules of genetic diseases on actual
    daily life cases from inheritance pattern, recurrence
    risk calculation, prenatal Dx, prevention, and genetic
    counseling.
    General Scenario

    A 25-year old pregnant lady attended the


    antenatal care unit and was sent for regular
    U.S. examination.

    The radiologist detected abnormal sign(s) in


    the fetus.

    Below are the findings in different cases and


    different gestational ages ..
    1

    Fetal head Neural tube


    Open tubes lesion increase
    Lemon sign afetoproteins
    2

    Ventriculomegally

    Fetal head Increase secretion


    with decrease
    absorption

    What’s abnormal in this scan? Chiari


    malformation
    3

    Congoint twin
    What’s abnormal in this scan?
    4

    Club foot
    What’s abnormal in these scans?
    5

    Down syndrome

    Hcg decrease
    Inhibin
    Afeto decrease

    Quadriple , triple

    These signs refer to which disease? Underdevelopment


    nasal
    of
    6

    Cystic
    hydroma

    Cystic hygroma is a sign of which genetic disease?


    Structural abnormality of x chromosome
    Ovaries dysgenesis
    7

    Is it an enlarged clitoris or a small penis?


    Ambiguous genitalia
    Hemophrodate when male determining region
    misplaced in x chromosome
    8

    Chorde d hypospadius
    Ear and renal abnormalities linked
    9

    Kyphosis
    10 Myelomeningocele
    11 Hydrop fetalis
    Abo RH
    Heart failure
    Certain syndrome

    These signs refer to which disease?


    12 Fetal demise
    DIC
    In any of the above cases,

    1. What is your diagnosis / suspicion?


    2. How would you confirm your suspicion?
    3. What and how should you tell the mother about the
    findings?
    4. What are the lines of management?
    5. Terminate pregnancy or not?
    6. Treatment options and plan (pre/postnatally)
    7. Could this condition recur in future pregnancies or
    not?
    8. Can it be Prevented?
    9. Other issues to consider
    Fetoscopy technique
    Condition MSAFP uE3 HCG
    Neural tube defect Increased Normal Normal
    Trisomy 21 Low Low Increased
    Trisomy 18 Low Low Low
    Molar pregnancy Low Low Very High
    Multiple gestation Increased Normal Increased
    Fetal death (stillbirth) Increased Low Low
    Clinical Genetics

    Case Scenarios

    Part II
    A 28-year old Huda is now 14/52 pregnant and has a
    family history of beta thalassemia major (her
    nephew and her sister). She is married to her cousin.

    She is asking whether:


    1. Her current pregnancy is possibly affected or not?
    2. There is a diagnostic test to confirm that?
    3. If confirmation was made that the current
    pregnancy is affected, would you advise to
    terminate the pregnancy or not?
    4. If it could recur in the future?
    5. She could have a normal baby?
    6. There is any preventive measure for future
    pregnancies?
    What if Mrs. Huda had a previously affected child
    with:

    a. Hemophilia A?
    b. Sickle cell anemia?
    c. Achondroplasia?
    d. Phenylketonuria?
    e. Congenital deafness?
    f. Galactosemia?
    g. Congenital adrenal hyperplasia?
    h. G6PD deficiency?

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