Week 2 Case Flashcards
GX PX
Gravidity (pregnancies)
Parity (births)
LMP
First day of last menstrual period
TPAL XXXX
Term/Premature/Abortion/Living
post coital
After sexual intercourse
How to explain FISH?
Change in DNA is needle in a haystack
FISH is a magnet
Hydrocephalus
Hydrocephalus is a buildup of fluid inside the skull that leads to brain swelling.
Cloverleaf deformity
Severe coronal craniosynostosis.
Brain forms in a vertical direction.
Associated hydrocephalus.
First semester prenatal screening:
- Serum screen (hCG, PAPP-A)
- Ultrasound (NT)
- Serum screen (hCG, PAPP-A) + NT
- Cell free DNA
- Amniocentesis / CVS
Second semester prenatal screening
- Ultrasound
- Serum screen (AFP, hCG, estriol, inhibin)
- fetal Cell free DNA
- Amniocentesis
Trisomy 21 characteristics
(1/800)
Nuchal fold (NT)
Hypoplastic nasal bone
IUGR (symmetrical)
Endocardial cushion defect
Duodenal atresia
Pyelectasis
Short humerus / femur
Trisomy 18 characteristics
(1/2500)
Cleft Lip Cleft Palate
IUGR (symmetrical)
Choroid Plexus Cysts
Complex heart defect / VSD
Omphalocele
Rocker bottom feet
Hand clenching
Trisomy 13 characteristics
Cleft Lip
Cleft Palate
Micrognathia
Holoprosencephaly
Complex heart defect / VSD
Omphalocele
Hand clenching
Polydactyly
Duodenal atresia
congenital absence or complete closure of a portion of the lumen of theduodenum
Sensitivity and Specificity
Sensitivity: the percentage of sick people who are correctly identified as having the condition
Specificity: the percentage of healthy people who are correctly identified as not having the condition.
Palliative
It is specialized medical care for people with serious illnesses. It focuses on providing patients with relief from the symptoms, pain, and stress of a serious illness—whatever the diagnosis. The goal is to improve quality of life for both the patient and the family.
Cullen’s sign
Superficial edema and bruising in the subcutaneous fatty tissue around the umbilicus.
Chadwick’s sign
Bluish discoloration of cervix because of increased blood flow to cervix
What equipment do you need at the time of pelvic exam?
- Nurse, (Ethics)
- Speculum, light source. Right forceps if incomplete ab
- Culture for Gc, Chlamydia.
What is the differential for bleeding in pregnancy?
- Spontaneous abortion
- Ectopic pregnancy
- Vaginal, cervical lesions
What lab tests are most important to order when there is a vaginal bleeding?
- hCG, progesterone.
- Blood type and Rh
- CBC for WBC, Hgb, Hct
- Prenatal panel if ongoing gestation
During what stage does the embryo implants?
Blastocyst (day 6)
Types of abortions:
threatened abortion = cervix is closed
inevitable abortion = cervix is dilated
partial abortion = partial passage of tissue
complete abortion = all comes out
HEENT
Head Ears Eyes Nose Throat
Auscultation
The term for listening to the internal sounds of the body, usually using a stethoscope.
NC/AT
Normal Cephalic / a traumatic
PERRL
Pupil Equal Round Reactive to Light
NKDA
No known drug allergies
Hx
History
NSVD
Normal spontaneous vaginal delivery
Rebound tenderness
refers to pain upon removal of pressure rather than application of pressure to the abdomen
Tender to palpation
a state of unusual sensitivity to touch or pressure
Percussion
means tapping on the surface
Point of care ultrasound
Portable ultrasonography at a patient’s bedside for diagnostic
Abdominal guarding
Abdominal guarding is the tensing of the abdominal wall muscles to guard inflamed organs within the abdomen from the pain of pressure upon them.
Decubitus
Lying down
Gestational sac
when is it seen on ultrasound?
The gestational sac is the large cavity of fluid surrounding the embryo. During early embryogenesis it consists of the extra-embryonic coelom, also called the chorionic cavity.
Week 8
Quad Screening in Trisomy 21 and 18
Low afp assoc w tri 21
High hCG associated with trisomy 21
Low unconjugated estriol (uE3) assoc w tri 21
High inhibin A assoc w tri 21
All low in 18 and inhibin A is not used.
How can 2 “normal” parents have a child with an autosomal dominant trait?
- New mutation
- Reduced penetrance
- Variable epxression
- Non-Paternity
Spina bifida
A developmental congenital disorder caused by the incomplete closing of the embryonic neural tube.
Achondroplasia
Autosomal dominant
The disorder itself is caused by a change in the gene for fibroblast growth factor receptor 3 (FGFR3), which causes an abnormality of cartilage formation.
Neurofibromatosis
Autosomal dominant
Refers to a number of inherited conditions that are clinically and genetically distinct and carry a high risk of tumor formation, particularly in the brain
Marfan’s syndrome
Autosomal dominant
Marfan’s syndrome is a genetic disorder of human connective tissue. It has various expressions ranging from mild to severe: the most serious complications are defects of the heart valves and aorta, which often lead to early death.
Tay Sachs
Autosomal Recessive
In its most common variant, it causes a progressive deterioration of nerve cells and of mental and physical abilities that begins around six months of age and usually results in death by the age of four.
Cherry-red spot as seen in Tay Sachs disease: the fovea’s center appears bright red because it is surrounded by a milky halo
Why there is a higher chance of non-disjunction in older ages?
Egg spindle fibers degenerate
Nuchal translucency
Nuchal translucency is a collection of fluid under the skin at the back of your baby’s neck.
Down syndrom cases have more fluid accumulated in the fold.
PAPPA (test/test)
Pappalysin-1 also known as pregnancy-associated plasma protein A is a protein that in humans is encoded by the PAPPA gene. It is used in screening for Down Syndrome.
Futile medical care
The continued provision of medical care or treatment to a patient when there is no reasonable hope of a cure or benefit.
Parental Autonomy
Parents have rights to raise child the way they see it.
Determination of sex
Angle of the genital tubercle to a horizontal line through lumbosacral skin surface. x>30 male x
Cystic Hygroma
A cystic hygroma is a growth that often occurs in the head and neck area.
80% of fetuses with cystic hygroma have aneuploidy (most commonly Turner syndrome)
Aortic coarctation
narrowing of part of the aorta (the major artery leading out of the heart). Also called a hole in the heart, is a common heart defect that’s present at birth (congenital). The defect involves an opening (hole) in the heart forming between the heart’s lower chambers, allowing oxygen-rich and oxygen-poor blood to mix
Ventricular septal defect
A ventricular septal defect (VSD), also called a hole in the heart, is a common heart defect that’s present at birth (congenital). The defect involves an opening (hole) in the heart forming between the heart’s lower chambers, allowing oxygen-rich and oxygen-poor blood to mix.
Amniocentesis
The sampling of amniotic fluid using a hollow needle inserted into the uterus, to screen for developmental abnormalities in a fetus.
