Developmental pathology Flashcards
Differentiate embryo vs fetus
embryo from conception to end of week 8
fetus from week 9 through birth
What are the products of conception?
embryo/ fetus + placenta
What timeframe defines the neonate period?
first 4 weeks of extrauterine life
What is the difference between developmental age and gestational age?
Developmental age: conception until birth or intrauterine demise.
Gestational age: same as menstrual age, from LMP until removal or delivery of conceptus (starts 2 weeks earlier)
What is occurring during balstogenesis?
Developmental fields established, heart forms, neural tube closes, primordial organ buds form
fertilization through week 4
What is occurring during organogenesis?
primitive organs form
weeks 5-8
Teratogenic insults are most likely to cause organ/ localized limb defects during _____
organogenesis, the second 4 weeks of embryogenesis
What is occurring during phenogenesis?
organ development and growth
What types of defects occur during phenogenesis?
syndromes, sequences, deformations
Differentiate intrinsic vs extrinsic abnormalities
intrinsic: abnormal cell/ development from the start
extrinsic: external forces alter otherwise normal development
Intrinsic abnormalities include _____ whereas extrinsic abnormalities include ________
malformations, dysplasias
deformations, teratogenic disruptions
Differentiate malformation vs deformation
Malformation: any abnormally formed organ or tissue
Deformation: abnormal form, shape, or position of a body part caused by external mechanical forces
List some possible causes of deformations
oligohydramnios
malformed uterus
leiomyomata
major fetal CNS defects that limit motility
Distinguish talipes calcaneovalgus vs talipes equinovarus
Valgus: angle of deformity points toward midline
Varus: angle of deformity points away from midline
A _____ is a group of multiple anomalies that are derived from a single cause or prior anomaly
sequence
Describe the Potter sequence
result of oligohydramnios
renal agenesis/ aminotic leak–> oligohydramnios–> fetal compression–> pulmonary hypoplasia, altered/ deformed facies, positioning defects of hands and feet, breech presentation
A ____ is a pattern of congenital anomalies pathogenetically related but not explained by a single localized initiating defect
syndrome
List the most common caues of congenital anomalies
chromosomal abnormalities
environmental
single gene mutations
by far most common are multifactorial and undetermined
List features of Down syndrome
cardiac defects, single simian palmar crease, macroglossia, eye abnormalities, leukemias, dementia
List features of Edwards syndrome (trisomy 18)
micrognathia, overlapping fingers
List features of Patau syndrome (trisomy 13)
polydactyly, palate clefts, micropthalmia
Peak sensitivity to ____ is during the fourth and fifth weeks of embryogenesis
teratogens
List drugs/ chemicals that are known teratogens
thalidomide valproic acid vitamin A alcohol warfarin radiation
_____ causes limb anomalies in exposed fetuses
thalidomide
_____ disrupts the HOX transcription factor proteins involved in limb, vertebral, and craniofacial structure positioning
valproic acid
_____ causes CNS, cardiac, and craniofacial defects esp cleft lip/ palate in exposed fetuses
retinoic acid, ex acutane
Fetuses exposed to ____ have abnormal facies, atrial septal defects, and prenatal and postnatal growth retardation
alcohol
What anomalies can be present in the fetuses of mothers with poorly controlled diabetes
macrosomnia, congenital heart defects, neural tube defects, pancreatic hyperplasia and hypoglycemia after delivery
______ is an anti-neoplastic drug similar to thalidomide
lenalidomide
_____ downregulates wingless (WNT) signaling, causing congenital malformations
Thalidomide
____ disrupts TGF-B signaling
retinoic acid