24 Questions
What is the definition of a congenital anomaly?
Abnormalities of structure, function, or body metabolism that are present at birth
What is the incidence of major congenital anomalies?
3%
What is VACTERL association?
An acronym that stands for Verterbral, Anal, Cardiac, Tracheal, Esophageal, Renal, Limb association
What is the cause of most congenital anomalies?
Unknown cause
What is an example of a non-structural defect?
Inherited metabolic disorders
What is the leading cause of death in the first year of life?
Congenital anomalies
Which type of genetic disorder is characterized by no male-to-male transmission?
X-linked recessive
What is the name of the syndrome that results from a chromosomal anomaly of 45,X?
Turner's syndrome
What is the name of the virus that can cause an intrinsic insult to a fetus during pregnancy?
Rubella virus
Which of the following is an example of an environmental agent that can cause an extrinsic insult?
Lead
What is the name of the disease that results from a mutation in a single gene, causing anemia and other complications?
Sickle cell disease
What is the name of the medication that can cause phocomelia, a congenital abnormality?
Thalidomide
What is teratogenesis?
The disturbed growth process leading to production of a malformed neonate
What type of teratogen is radiation an example of?
Physical
What is the primary goal of pre-pregnancy assessment?
To provide genetic counseling to couples with a family history of congenital anomalies
What is the purpose of screening programs in pre-pregnancy assessment?
To identify some of the common genetic disorders
What is an important factor to consider during history taking in prenatal procedures?
Maternal age
What is the purpose of genetic counseling in pre-pregnancy assessment?
To provide accurate information about recurrence risks
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
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
What is the purpose of preconception management options?
To prevent congenital malformations from occurring
What is the primary goal of postpartum management options?
To plan the best circumstances for delivery
What is the main limitation of in utero treatment (fetal therapy)?
It is only available for few conditions
What is the primary reason for conducting routine investigations during pregnancy?
To identify significant maternal diseases
This quiz covers the terminology and definition of congenital anomalies, including congenital, anomaly, malformation, and birth defect. It also touches on the background and range of congenital anomalies.
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