Congenital Anomalies Terminology

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Questions and Answers

What is the definition of a congenital anomaly?

  • Abnormalities of structure, function, or body metabolism that are present at birth (correct)
  • An abnormality present at birth that can be treated or cured
  • A mental or physical disability that is present at birth
  • A deviation from the normal structure or function

What is the incidence of major congenital anomalies?

  • 1%
  • 10%
  • 3% (correct)
  • 5%

What is VACTERL association?

  • An acronym that stands for Verterbral, Anal, Cardiac, Tracheal, Esophageal, Renal, Limb association (correct)
  • A type of inherited metabolic disorder
  • A type of functional and behavioral deficit
  • A type of structural defect that affects multiple structures

What is the cause of most congenital anomalies?

<p>Unknown cause (D)</p> Signup and view all the answers

What is an example of a non-structural defect?

<p>Inherited metabolic disorders (C)</p> Signup and view all the answers

What is the leading cause of death in the first year of life?

<p>Congenital anomalies (A)</p> Signup and view all the answers

Which type of genetic disorder is characterized by no male-to-male transmission?

<p>X-linked recessive (C)</p> Signup and view all the answers

What is the name of the syndrome that results from a chromosomal anomaly of 45,X?

<p>Turner's syndrome (C)</p> Signup and view all the answers

What is the name of the virus that can cause an intrinsic insult to a fetus during pregnancy?

<p>Rubella virus (C)</p> Signup and view all the answers

Which of the following is an example of an environmental agent that can cause an extrinsic insult?

<p>Lead (C)</p> Signup and view all the answers

What is the name of the disease that results from a mutation in a single gene, causing anemia and other complications?

<p>Sickle cell disease (A)</p> Signup and view all the answers

What is the name of the medication that can cause phocomelia, a congenital abnormality?

<p>Thalidomide (B)</p> Signup and view all the answers

What is teratogenesis?

<p>The disturbed growth process leading to production of a malformed neonate (D)</p> Signup and view all the answers

What type of teratogen is radiation an example of?

<p>Physical (A)</p> Signup and view all the answers

What is the primary goal of pre-pregnancy assessment?

<p>To provide genetic counseling to couples with a family history of congenital anomalies (D)</p> Signup and view all the answers

What is the purpose of screening programs in pre-pregnancy assessment?

<p>To identify some of the common genetic disorders (C)</p> Signup and view all the answers

What is an important factor to consider during history taking in prenatal procedures?

<p>Maternal age (D)</p> Signup and view all the answers

What is the purpose of genetic counseling in pre-pregnancy assessment?

<p>To provide accurate information about recurrence risks (B)</p> Signup and view all the answers

What is the primary reason for termination of pregnancy in cases involving congenital malformations?

<p>To prevent the birth of a child with a malformation incompatible with life (A)</p> Signup and view all the answers

What is the significance of routine examination of newborns immediately after birth and a few days later?

<p>To detect any congenital malformations that may have been missed during pregnancy (D)</p> Signup and view all the answers

What is the purpose of preconception management options?

<p>To prevent congenital malformations from occurring (A)</p> Signup and view all the answers

What is the primary goal of postpartum management options?

<p>To plan the best circumstances for delivery (B)</p> Signup and view all the answers

What is the main limitation of in utero treatment (fetal therapy)?

<p>It is only available for few conditions (A)</p> Signup and view all the answers

What is the primary reason for conducting routine investigations during pregnancy?

<p>To identify significant maternal diseases (D)</p> Signup and view all the answers

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