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Embryology Birth Defects and Twins
KYCOM Block 1
60
Biology
Graduate
08/23/2012

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Cards

Term
What are all the ways to say birth defects?
Definition
congenital malformation, congenital anomaly
Term
what is the definition of a birth defect?
Definition
structural, behavorial, metabolic, or functional abnormaility
Term
what precentage of births have a major anomolay?
Definition
1-2% live born, 2-3% by age 5
Term
what percentage of infants have a minor anomaly?
Definition
15%
Term
what are signs of a minor anomaly?
Definition
small ears, pigment spots, short palpebral fissures
Term
why are minor anomalys important in medicine?
Definition

the more minor ones someone has the more changes there are that they have a major one.

especially look at the ears, many major anomalys have malformed ears

Term
malformation definition
Definition
complete or partial absence or malformatin of a structure
Term
when do most malformations originate?
Definition
3-8 week of gestation
Term
disruption
Definition
alterations after a structure has normally developed caused by a destructive process
Term
what is a common example of a disruption?
Definition
atresia, vascular supply to an organ is disrupted
Term
deformation
Definition
mechanical force leads to a distorted appearance over time in fetus, often musculoskeletal
Term
syndromes
Definition
group of abnormailities with a common single cause, risk of reacurrance is known
Term
association
Definition
groups of abnormailities that occur together but we dont know why
Term
what are the categories of enivormental factors that cause birth defects?
Definition
infectous agents, hypothermia, radiation, chemical agents, hormones, maternal diseases, nutritional deficiencies, obesity, heavy metals
Term
what are examples of infectous agents that cause birth defects?
Definition
rubella, varciella (chicken pox), cytomegalovirus, toxoplasmosis (litterbox)
Term
what are ways a mother can get hypothermia and cause a birth defect?
Definition
hot tub, sauna, fever
Term
what are some chemical agents that cause birth defects?
Definition
thalidomide, warfarin, ACE inhibitors (for BP, viagra, ciallis), vitamin A (acutane), alcohol
Term
what can alcohol cause for a fetus?
Definition
fetal alcohol spectrum disorder
Term
what are the hormones that cause birth defects?
Definition
androgenic agents, endocriine disruptors
Term
what is thalidomide?
Definition
an autoimmune medication that causes limb defects
Term
what is DES?
Definition
diethylstilbesterol, an endocrine disruptor hormone that gives baby girls a T uterus and a risk of cancer in their 20s
Term
give and example of a nutritional suppliment that a mother can run out of and can cause birth defects
Definition
iodine
Term
what heavy metals can cause birth defects?
Definition
mercury, lead
Term
in what part of gestation is there a high risk for birth defects
Definition
3-8 weeks, week 5 is the most
Term
tetarogen
Definition
things that cause birth defects
Term
what birth defects can come from dad being exposed to teratogens?
Definition
chemicals can mutate germ cells, spontanous abortion, low birth weight, other
Term
what birth defects can come from advanced paternal age?
Definition
limb defects, down syndrome, new autosome mutations, neural tube defects
Term
what birth defects can come from diabetes?
Definition
still births, neonatal deaths, large infants, congenital malformations, severity and duration increases risk
Term
how does ultrasound work?
Definition
high frequency sound waves are reflected back from tissues
Term
what physical ways can ultrasound be use to see the baby?
Definition
transabdominal, transvaginal
Term
what things can ultrasound tell us?
Definition

fetal age, growth, structural abnormalities

dopplar functions can be used for fluid levels and blood flow

multiple gestations

neural tube, abdominal wall, heart, and facial defects

Term
what can maternal serum screening be done on?
Definition
AFP and hCG
Term
what does AFP stand for?
Definition
alpha-fetoprotein
Term
what do high levels of AFP indicate
Definition
neural tube and abdominal wall defects
Term
what do low levels of AFP indicate?
Definition
down syndrome
Term
what is amniocentesis?
Definition
needle is inserted transabdominally into the amnotic cavity with withdraw fluid
Term
what can amniocentesis test for?
Definition
AFP, karyotype, enzyme levels, single gene defects
Term
what is the risk of amniocentesis? when should it be done?
Definition
1% risk of fetal loss, wait until 14 weeks
Term
what is chrionic villi sampling?
Definition
transabdominal or transvaginal needle inserted into the placental mass to asperate tissue that has rapidly dividing cells for testing
Term
what is the risk of chorionic villus sampling? when is it done?
Definition
2x that of amniocentesis, early
Term
why do prenatal testing?
Definition
family history, ultrasound or maternal serum abnormalities, maternal disease, advanced age
Term
intrauterine transfusion
Definition
mom's antibodies kill the baby cells so blood is trasfused to fix it
Term
what are ways a fetus can be treated if an abnormaility is spotted?
Definition
intrauterine transfusion, medical treatment, surgery
Term
what types of medical treatments can be done to help an abnormal fetus?
Definition
maternal or direct administration of drugs (ex: arythryma or thyroid medication, antibiotics)
Term
what types of surgical treatments can be done to help an abnormal fetus?
Definition
shunts to move fluid, ex utero (diaphagmatic, hernia, cystin lung lessions, spina bifidia)
Term
dizygotic twins frequency
Definition
2/3 of twins, increases with maternal age
Term
dizygotic twins
Definition
2 oocytes fertilized, seperate implantations, sometimes chorionic sacs or less commonly the placentas fuse
Term
monozygotic twins frequency
Definition
1/3 of twins
Term
monozygotic twins
Definition

develop from a single fertilized egg

split a various stages

Term
what happens when embryo cells split apart (like a two cell zygote)?
Definition

monozygotic twins

cells developing the embryo split apart into two embryos, they have their own placentas and membranes

Term
what happens when embryo cells split as a blastocyst?
Definition

monozygotic twins

diamniotic, monochorionic

inner cell mass splits, out cell mass does not. two babies form and share the placenta but it is early enough that they get their own amniotic sac

Term
what happens when the embryo splits apart in the bilaminar germ disc phase?
Definition

monozygotic twins

monoamniotic, monochorionic

2 embryos form but because development is too far along they share a chorionic and amniotic sac and a placenta

Term
potential problems when having twins
Definition

higher morbidity and mortality, 12% are premes, smaller, shorter gestation, vanishing twin, twin twin transfusion, delivery issues, conjoined

 

Term
vanishing twin
Definition
a twin is lost, usually early in pregnacy
Term
twin twin transfusion
Definition
connection in circulation between twins, one gets more one less, bad for both. most of time both are lost
Term
problems when delivering twins
Definition
2nd twin wont come out, have to get 2nd out fast because after pregnacy processes begin, babies are not facing the right way for delivery, babies are tangled (needs surgery)
Term
conjoined twins
Definition
embryo split after the primitive streak formed so they did not seperate all the way because it was too late. classified by the degree of union and area of joining
Term
paturation
Definition

birth

factors that induce are not known, divided into 3 stages

Term
possible factors for why birth is induced
Definition
withdraw of supporting factors, induction of stimulatory factors
Term
stages of birth
Definition

1. effacement and dilation of cervix

2. delivery of fetus

3. delivery of placenta and membranes

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