Congenital Anomalies (10) Flashcards
Most common cause of infant death in the united states?
Congenital anomalies
Neonatal period
0-4 weeks of life
Infancy
First year of life
When do malignant neoplasms begin to be a significant cause of death?
1-4 years of age period
What are the 4 stages/time frames of development?
Neonatal = 0-4 weeks of life
Infancy = First year of life
1-4 years of age
5-14 years of age
The chances of survival of infants increases with?
Each passing week
Disease
Any deviation from normal structure or function manifested by characteristic symptoms and signs
Disorder
Abnormality of function
Neoplasm
New or abnormal growth
Syndrome
Set of symptoms that occur together
What is a congenital anomaly?
Anatomic defect present at birth, even if it does not manifest itself until later in life
What are examples of congenital anomalies that may not manifest until later in life?
Heart and Kidney defects
What are the 5 types of congenital anomalies?
- Malformation
- Disruption
- Deformation
- Sequence
- Malformation Syndrome
Malformation
Intrinsic error in the developmental process
Intrinsic error in the developmental process
Malformation
What usually causes Malformations?
Multifactorial
What is an example of a Malformation?
Polydactyly
Cleft lip
Disruption
Destruction of an organ or body region that was normal in development previously
Destruction of an organ or body region that was normal in development previously
Disruption
With Disruptions, is there an increased risk of recurrence for it to happen again with the next pregnancy?
NO
- Not heritable
What is an example of a Disruption?
Amniotic bands that encircle or compress fetus
Deformations
Localized or generalized compression of the fetus by abnormal biomechanical forces
Localized or generalized compression of the fetus by abnormal biomechanical forces
Deformations
What factors can all contribute to deformations?
Maternal
Fetal
Placental
What is an example of a Deformation?
Uterine constraint
Sequences
Cascade of anomalies triggered by 1 initial aberration
Cascade of anomalies triggered by 1 initial aberration
Sequences
What is an example of a sequence?
Oligohydramnios (potter) sequence
What is the oligohydramnios sequence?
- Oligohydramnios
- Fetal compression
= Pulmonary hypoplasia, altered facies, defects of hands and feet
Malformation Syndrome
Constellation of anomalies that canNOT be explained by 1 initiating aberration
Constellation of anomalies that canNOT be explained by 1 initiating aberration
Malformation Syndrome
What usually causes a malformation syndrome?
Viral infection
Agenesis
Complete absence of organ and primordium
Aplasia
Absence of organ due to failure of growth from existing primordium
Atresia
Absence of an opening to an organ
Dysplasia
Abnormal organization of cells
4 causes of congenital anomalies and %?
- UNKNOWN - 40-60%
- Multifactorial - 25%
- Genetic - 10%
- Environmental - 10%
Genetic causes of congenital anomalies?
- Chromosomal aberrations
2. Mendelian Inheritance
Environmental causes of congenital anomalies?
Maternal, placental infections
Maternal disease
Drugs and chemicals
Teratogen
Can causes congenital malformation
The ____ of the prenatal teratogenic insult has important impact on the occurrence and type of congenital anomaly
TIMING
What are the 2 phases of Intrauterine Development?
- Early Embryonic Period - first 9 weeks
2. Fetal period - 9 weeks to birth
When is the Early Embryonic Period?
0-9 weeks of pregnancy
When is the Fetal Period?
9 weeks to birth of child
In what Intrauterine phase of development is the fetus EXTREMELY susceptible to teratogenesis (formation of anomalies)?
Early Embryonic Period - 0-9 weeks gestation
At what point in the Early Embryonic Period is the fetus at the highest point of susceptibility to anomaly formation?
4-5 weeks gestation
During the Early Embryonic Period, what systems of the body are very susceptible to teratogenesis?
CNS Heart Limbs Eyes and ears Genitalia
In what Intrauterine phase of development is the fetus not really susceptible to teratogenesis?
Fetal Period - 9 weeks to birth
In the Fetal Period of intrauterine development, what is the fetus now more susceptible to?
Growth restrictions or injury
What factors contribute to infant mortality in the US?
Maternal age (<20 and >40), socioeconomic status, and increased risk for African Americans
