Common Congenital Disorders Flashcards
(31 cards)
What is the most common cause of NND?
preterm birth
define congenital disorders
structural or functional anomalies that occur due to abnormal developmental processes
What factors play a role in causing anomalies?
environmental: drugs, alcohol, infection, medications, micronutrient deficiencies
parental: mat/pat age, mat BP, glucose homeostasis, hormone concentrations
genetic: single gene defect, chromosomal abnormalities, point mutations
what is a major factor within environmental factors that can reduce risk of defects?
family planning, reduces risk of exposure to environmental factors since fetus most sensitive to teratogens 3-8K
describe all or none period and effects that can happen to embryo
exposure can impact individual cells, expression of genes and change cell fate
list common teratogens
alcohol, tobacco, cocaine, narcotics, antiepileptics, accutane, HOTN meds
what % of women drink in pregnancy?
up to 64%
what are the outcomes of FAS?
facial dysmorphology, growth deficiency, CNS defects, neurobehavioral impairments
how does alcohol impact pregnancy?
reduces blood flow through spiral arteries, fetal brain, and decidua
describe FASD (spectrum discorder)
non-specific presentation, poor learning/concentration, social and communication problems, anx and mood dysregulation, facial features affected in 15%, possible organ abnormalities
list key micronutrient deficiencies linked to congenital anomalies and their impacts
folate -> NTD
iodine -> thyroid problems
selenium -> PET, GDM, preterm
list key parental linked to congenital anomalies
stress, hormones, BP, glucose
list genetic causes of congenital anomalies
advanced mat age increases risk of genetic defects esp chromosomal abnormalities, consanguinity (related parents), singe gene related congenital defects
describe CHARGE acronym and what type of defect is it?
single gene defect, CHARGE: mutation in CHD7 gene, Coloboma (retina), Heart, Atresia (choanae), Retarded growth, Genital hypoplasia, Ear
describe Rett syndrome and what type of defect is it?
single gene defect, mutation of SMC1A, neuro delay, scoliosis, convulsions
describe HDAC8 gene mutation and what kind of defect it is
single gene defect, causes X linked Cornelia de Lange syndrome, microcephaly, MODS, short stature
describe aneuploidies
abnormal number of chromosomes in a cell, trisomy = 3, monosomy =1
describe somatic trisomies
3 of an autosome, all but three are lethal: 13, 18 and 21
describe sex chromosome trisomies and give 3 examples of assoc conditions
3 sex chromosomes, many not very impactful except Turner’s syndrome where one X chromosome is deleted causing short stature, webbed neck, transient lymphedema, intellectual disability, Kleifelter’s syndrome XXY = tall, breast tissue, infertility, XYY = testosterone, height, acne, learning difficulties
what is the most common severe cong abnormality and describe it
hypospadias, genital defect with proximally placed urethral meatus or opening
describe ventricular septal defect
hole in the heart bw ventricles allowing oxygenated and deox blood to mix, req surgery to fix
describe renal agenesis
one or both kidneys fail to develop -> reduced amniotic fluid = potter’s syndrome where lungs don’t develop properly, bilat is fatal
what causes renal agenesis
vit A deficiency, cocaine, alcohol, drugs, mat DM
what is the most prevalent NTD and describe it
spina bifida, incomplete closing of caudal NT and incomplete lumbar spinal column, generally preventable with folic acid, increased in GDM, alcohol and drugs
