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Block 1 > Week 2 Case > Flashcards

Week 2 Case Flashcards

1
Q

GX PX

A

Gravidity (pregnancies)

Parity (births)

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2
Q

LMP

A

First day of last menstrual period

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3
Q

TPAL XXXX

A

Term/Premature/Abortion/Living

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4
Q

post coital

A

After sexual intercourse

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5
Q

How to explain FISH?

A

Change in DNA is needle in a haystack

FISH is a magnet

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6
Q

Hydrocephalus

A

Hydrocephalus is a buildup of fluid inside the skull that leads to brain swelling.

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7
Q

Cloverleaf deformity

A

Severe coronal craniosynostosis.

Brain forms in a vertical direction.

Associated hydrocephalus.

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8
Q

First semester prenatal screening:

  • Serum screen (hCG, PAPP-A)
  • Ultrasound (NT)
  • Serum screen (hCG, PAPP-A) + NT
  • Cell free DNA
  • Amniocentesis / CVS
A
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9
Q

Second semester prenatal screening

A
  • Ultrasound
  • Serum screen (AFP, hCG, estriol, inhibin)
  • fetal Cell free DNA
  • Amniocentesis
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10
Q

Trisomy 21 characteristics

(1/800)

A

Nuchal fold (NT)

Hypoplastic nasal bone

IUGR (symmetrical)

Endocardial cushion defect

Duodenal atresia

Pyelectasis

Short humerus / femur

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11
Q

Trisomy 18 characteristics

(1/2500)

A

Cleft Lip Cleft Palate

IUGR (symmetrical)

Choroid Plexus Cysts

Complex heart defect / VSD

Omphalocele

Rocker bottom feet

Hand clenching

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12
Q

Trisomy 13 characteristics

A

Cleft Lip

Cleft Palate

Micrognathia

Holoprosencephaly

Complex heart defect / VSD

Omphalocele

Hand clenching

Polydactyly

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13
Q

Duodenal atresia

A

congenital absence or complete closure of a portion of the lumen of theduodenum

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14
Q

Sensitivity and Specificity

A

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.

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15
Q

Palliative

A

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.

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16
Q

Cullen’s sign

A

Superficial edema and bruising in the subcutaneous fatty tissue around the umbilicus.

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17
Q

Chadwick’s sign

A

Bluish discoloration of cervix because of increased blood flow to cervix

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18
Q

What equipment do you need at the time of pelvic exam?

A
  1. Nurse, (Ethics)
  2. Speculum, light source. Right forceps if incomplete ab
  3. Culture for Gc, Chlamydia.
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19
Q

What is the differential for bleeding in pregnancy?

A
  1. Spontaneous abortion
  2. Ectopic pregnancy
  3. Vaginal, cervical lesions
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20
Q

What lab tests are most important to order when there is a vaginal bleeding?

A
  1. hCG, progesterone.
  2. Blood type and Rh
  3. CBC for WBC, Hgb, Hct
  4. Prenatal panel if ongoing gestation
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21
Q

During what stage does the embryo implants?

A

Blastocyst (day 6)

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22
Q

Types of abortions:

A

threatened abortion = cervix is closed

inevitable abortion = cervix is dilated

partial abortion = partial passage of tissue

complete abortion = all comes out

23
Q

HEENT

A

Head Ears Eyes Nose Throat

24
Q

Auscultation

A

The term for listening to the internal sounds of the body, usually using a stethoscope.

25
Q

NC/AT

A

Normal Cephalic / a traumatic

26
Q

PERRL

A

Pupil Equal Round Reactive to Light

27
Q

NKDA

A

No known drug allergies

28
Q

Hx

A

History

29
Q

NSVD

A

Normal spontaneous vaginal delivery

30
Q

Rebound tenderness

A

refers to pain upon removal of pressure rather than application of pressure to the abdomen

31
Q

Tender to palpation

A

a state of unusual sensitivity to touch or pressure

32
Q

Percussion

A

means tapping on the surface

33
Q

Point of care ultrasound

A

Portable ultrasonography at a patient’s bedside for diagnostic

34
Q

Abdominal guarding

A

Abdominal guarding is the tensing of the abdominal wall muscles to guard inflamed organs within the abdomen from the pain of pressure upon them.

35
Q

Decubitus

A

Lying down

36
Q

Gestational sac

when is it seen on ultrasound?

A

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

37
Q

Quad Screening in Trisomy 21 and 18

A

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.

38
Q

How can 2 “normal” parents have a child with an autosomal dominant trait?

A
  1. New mutation
  2. Reduced penetrance
  3. Variable epxression
  4. Non-Paternity
39
Q

Spina bifida

A

A developmental congenital disorder caused by the incomplete closing of the embryonic neural tube.

40
Q

Achondroplasia

A

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.

41
Q

Neurofibromatosis

A

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

42
Q

Marfan’s syndrome

A

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.

43
Q

Tay Sachs

A

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

44
Q

Why there is a higher chance of non-disjunction in older ages?

A

Egg spindle fibers degenerate

45
Q

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.

A
46
Q

PAPPA (test/test)

A

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.

47
Q

Futile medical care

A

The continued provision of medical care or treatment to a patient when there is no reasonable hope of a cure or benefit.

48
Q

Parental Autonomy

A

Parents have rights to raise child the way they see it.

49
Q

Determination of sex

A

Angle of the genital tubercle to a horizontal line through lumbosacral skin surface. x>30 male x

50
Q

Cystic Hygroma

A

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)

51
Q

Aortic coarctation

A

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

52
Q

Ventricular septal defect

A

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.

53
Q

Amniocentesis

A

The sampling of amniotic fluid using a hollow needle inserted into the uterus, to screen for developmental abnormalities in a fetus.

Block 1 (25 decks)

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