Congenital Anomalies Terminology

Play an AI-generated podcast conversation about this lesson

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?

Unknown cause Signup and view all the answers

What is an example of a non-structural defect?

Inherited metabolic disorders Signup and view all the answers

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

Congenital anomalies Signup and view all the answers

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

X-linked recessive Signup and view all the answers

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

Turner's syndrome Signup and view all the answers

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

Rubella virus Signup and view all the answers

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

Lead 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?

Sickle cell disease Signup and view all the answers

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

Thalidomide Signup and view all the answers

What is teratogenesis?

The disturbed growth process leading to production of a malformed neonate Signup and view all the answers

What type of teratogen is radiation an example of?

Physical Signup and view all the answers

What is the primary goal of pre-pregnancy assessment?

To provide genetic counseling to couples with a family history of congenital anomalies Signup and view all the answers

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

To identify some of the common genetic disorders Signup and view all the answers

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

Maternal age Signup and view all the answers

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

To provide accurate information about recurrence risks Signup and view all the answers

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

To prevent the birth of a child with a malformation incompatible with life Signup and view all the answers

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

To detect any congenital malformations that may have been missed during pregnancy Signup and view all the answers

What is the purpose of preconception management options?

To prevent congenital malformations from occurring Signup and view all the answers

What is the primary goal of postpartum management options?

To plan the best circumstances for delivery Signup and view all the answers

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

It is only available for few conditions Signup and view all the answers

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

To identify significant maternal diseases Signup and view all the answers