Primary Care Topics

Question 1

Is passage of clots normal during menstruation?

Answer 1

yes, but clots should be no bigger than about 1 cm in diameter

Question 2

How do we define menopause? Perimenopause?

Answer 2

• menopause is the cessation of menses for more than 1 year
• perimenopause is the time of transition from menstrual to non-menstrual life when ovarian function declines, often lasting 1-2 years

Question 3

Describe the perimenopausal period?

Answer 3

• it is the period of transition from menstrual to non-menstrual life when ovarian function declines
• it usually begins with increasing menstrual irregularity and is associated with hot flushes, nervousness, mood changes, decreased vaginal lubrication, and altered libido
• it typically lasts 1-2 years

Question 4

How is infertility defined? At what point do we evaluate women for infertility?

Answer 4

• failure to conceive for one year with sufficiently frequent sexual encounters
• we evaluate women after one year unless they are over 35 in which case we evaluate them after 6 months

Question 5

What is the inframammary ridge?

Answer 5

• a normal finding with palpation of the breast
• most often seen in women with large breasts
• it presents as a firm ridge of tissue located transversely along the lower edge of the breast

Question 6

Which is currently recommended for normal risk women, breast self-awareness or breast self-examination?

Answer 6

self-awareness because self-exmaation is associated with a higher incidence of false-positive findings

Question 7

What recommendation exists for the frequency of pelvic exams?

Answer 7

annually for women 21 and older

Question 8

What is the difference between a Pederson and a Graves speculum?

Answer 8

• Pedersons are flat and narrow without much curvature; they are appropriate for nulliparous and postmenopausal women with atrophic vaginas
• Graves are wider, higher, and curved; they are more appropriate for parous women

Question 9

What recommendation exists for clinical breast examination?

Answer 9

• every 1-3 years for women 25-39

- annually thereafter

Question 10

What recommendation exists for mammography?

Answer 10

• initiated between 40-50 years old
• performed annually or biennially
• continued until 75

Question 11

What role does ultrasound play in the detection of breast cancer?

Answer 11

ultrasound is used to evaluate inconclusive mamographic findings, to differentiate solid from cystic masses, to evaluate women with dense breasts, and to guide needle biopsies

Question 12

MRI breast cancer screening is recommended for what population?

Answer 12

those with a greater than 20% lifetime risk, who have a BRCA mutation, or who have a first-degree relative with a BRCA mutation

Question 13

What recommendation exists for cervical cytology screening?

Answer 13

• initiated at age 21 and performed every three years
• cotesting to be performed every five years after age 30
• cessation at 65 years of age unless there is a history of CIN 2 or higher
• with CIN 2 or higher, perform screening for at least 20 years after management

Question 14

What recommendation exists for colorectal cancer screening?

Answer 14

recommended for average risk women starting at age 50 (45 if African American) and to be performed every 10 years until age 75

Question 15

What is the recommendation for G/C screening?

Answer 15

recommended for all sexually active women young than 25 and asymptomatic women over 25 who are at high risk

Question 16

How do we screen for diabetes? What are the thresholds for each method?

Answer 16

• fasting glucose greater than 126
• 2-hour oral glucose challenge greater than 200
• random plasma glucose greater than 200 with symptoms
• A1C greater than 6.5

Question 17

How do we define heteroploidy, euploidy, and aneuploidy?

Answer 17

• heteroploidy is any alteration in the chromosome number
• euploidy is a specific heteroploidy which involves an alteration of the haploid number (e.g. 69,XXX)
• aneuploidy is a specific heteroploidy which involves an alteration of the diploid number (e.g. trisomy 21)

Question 18

Trisomy 21

Answer 18

• caused by meiotic non-dysjunction due to maternal age, unbalanced Robertsonian translocation, or mitotic non-dysfunction
• presents with nuchal translucency and hypoplasia of the nasal bone on ultrasound in the first trimester
• amniotic fluid in the first trimester demonstrates elevated B-hCG and diminished PPAP-A
• amniotic fluid in the second trimester demonstrates low AFP, elevated B-hCG, low estriol, and elevated inhibin A
• presents with intellectual disability, risk for Alzheimer’s, duodenal atresia, Hirschsprung disease, risk of ALL or AML, prominent epicanthal folds, Brushfield spots, and AV septal defects

Question 19

Trisomy 18

Answer 19

• the second most common cause of trisomy, known as Edward’s syndrome
• in utero, B-hCG and PPAP-A are low in the first trimester; AFP, B-hCG, estriol, and inhibin A are low in the second
• findings described by “PRINCE Edward”: prominent occiput, rocker bottom feet, intellectual disability, nondisjunction, clenched fists with overlapping fingers, low-set ears
• plus micrognathia and congenital heart disease

Question 20

Trisomy 13

Answer 20

• known as Patau syndrome
• B-hCG and PPAP-A are low in the first trimester
• microcephaly, holoprosencephaly, intellectual disability
• microphthalmia, cleft lip/palate
• congenital heart disease
• PKD
• cutis aplasia, polydactyly, rocker bottom feet

Question 21

Cri-du-chat Syndrome (cause and presentation)

Answer 21

• a congenital micro deletion of the short arm of chromosome 5
• presents with microcephaly, moderate-to-severe intellectual disability, high-pitched crying/mewing, epicentral folds, and cardiac abnormalities (VSD)

Question 22

Turner Syndrome

Answer 22

• XO females
• most often resulting from meiotic error (in the father), but can be due to a mitotic error after fertilization, which results in mosaicism
• gonadal dysgenesis results in low estrogen and high LH/FSH
• presents with short stature, shield chest with wide nipples, streak ovaries, bicuspid aortic valve, coarctation, lymphatic defects (e.g. webbed neck, lymphedema in feet or hands, cystic hygroma), and a horseshoe kidney
• it is the most common cause of primary amenorrhea
• no Barr body is found

Question 23

What is the difference between a balanced and unbalanced translocation?

Answer 23

balanced is when equal amounts of genetic material are exchanged between chromosomes and unbalanced is when unequal amounts are

Question 24

What are Robertsonian translocations?

Answer 24

• those which affect acrocentric chromosomes such as 13, 14, 15, 21, and 22
• they result in a phenotypically normal individual who produces gametes that may be unbalanced

Question 25

What is the difference between variable expressivity and variable penetrance?

Answer 25

• variable expressivity refers to the array of phenotypes seen in affected individuals
• penetrance describes the likelihood an individual carrying the gene will be affected

Question 26

What is the most common cause of first-trimester pregnancy loss?

Answer 26

fetal chromosomal abnormality

Question 27

At what maternal and paternal ages does the risk for genetic abnormalities greatly increase?

Answer 27

35 for women and 50 for men

Question 28

Down syndrome has been associated with what prenatal findings?

Answer 28

• presents with increased nuchal translucency and hypoplasia of the nasal bone on ultrasound in the first trimester
• amniotic fluid in the first trimester demonstrates elevated B-hCG and diminished PPAP-A
• amniotic fluid in the second trimester demonstrates low AFP, elevated B-hCG, low estriol, and elevated inhibin A

Question 29

Describe circulating cell-free fetal DNA screening.

Answer 29

• a non-invasive screening tool which relies on finding cell-free fetal DNA in the maternal plasma
• can be performed as early as 10 weeks gestation and until term
• does not replace the invasive but diagnostic testing methods

Question 30

When are triple and quadruple screening tests offered?

Answer 30

offerred to patients between 15-22 weeks, who have not already undergone aneuploidy screening in the first trimester

Question 31

What are the primary risks associated with Lynch syndrome, BRCA1 mutation, and BRCA2 mutation?

Answer 31

• BRCA: primarily breast and ovarian cancer

- Lynch: primarily colorectal and endometrial cancer

Question 32

Describe amniocentesis.

Answer 32

• the withdrawal of amniotic fluid transabdominally between 15-20 weeks gestation
• analyzed for AFP, acetylcholinesterase, etc.
• carries a less than 1% chance of pregnancy loss

Question 33

Describe chorionic villus sampling?

Answer 33

• performed after 10 weeks gestation by transcervical or trans abdominal aspiration of chorionic villi
• transcervical carries a greater risk for pregnancy loss
• disorders that require amniotic fluid analysis cannot be diagnosed with CVS but it’s primary advantage is that it can be performed earlier and faster than amniocentesis
• carries an equal risk as amniocentesis for fetal loss

Question 34

What is a PUBS procedure?

Answer 34

• percutaneous umbilical blood sampling, also known as a cordocentesis
• typically performed after 20 weeks and used to obtain fetal blood
• has a slightly higher risk of complication than amniocentesis or CVS