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Recommended Supplement to Prevent Neural Tube Defects

folate 400 micrograms/day (.4mg/day) pre-conception

If prior NTD, give 4mg throughout the pregnancy


Risk in the population to have NTD (Spina Bifida or Anencephaly)

- higher incidence in Ireland


High risk in congenital disorder in Ashkenazi Jewish population

Tay-Sachs Disease: rare autosomal recessive genetic disorder. In its most common variant (known as infantile Tay–Sachs disease), it causes a progressive deterioration of nerve cells and of mental and physical abilities that commences around six months of age and usually results in death by the age of four. The disease occurs when harmful quantities of cell membrane components known as gangliosides accumulate in the brain's nerve cells, eventually leading to the premature death of the cells


High risk in congenital disorder in African American Population

- Sickle-Cell Disease (1 in 10 are carriers)
- Thalassemias


High risk in congenital disorder in Asian population

- Alpha Thalassemia


Elements of Ovarian & Mentrual Cycle Control

1. Hypothalamus (CONTROL): pulsatile release of GnRH

2. Anterior Pituitary (Response)
- LH: act on Theca Cells
- FSH: act on Granulosa cells

3. Ovarian Compliance: Ovulatory cycle
- Theca cells: stimulated by LH to produce androgen
- Granulosa cells: stimulated by FSH to convert androgen to estrogen
- Oocyte: stimulated by estrogen to mature and ovulate

4. Uterine Compliance: Menstruation
- Estrogen: supports Proliferative/Follicular phase, i.e., growth of the endometrium
- Progesterone: Luteal/Secretory phase, i.e., prepares endometrium for implantation


Stages of Ovarian Cycle

Follicular Phase: (Follicle selection takes 4 cycles; time to ovulation takes 10-14 days, GnRH dependent)
1. Primordial follicle
2. Primary Follicle
3. Secondary Pre-antral Follicle
4. Antral Follicle
5. Graffian follicle (largest, just prior to ovulation)

6. Ovulation

Luteal Phase: (CONSISTENTLY 14 days)
7. Corpus Luteum: secretes Progesterone
8. Corpus Albicans
9. Menstruation: shedding of endometrium


Enzyme that converts androgen to estradiol


- Dominant Follicles have enough aromatase to keep up with androgen production
- In remaining follicles, the excess androgen results in atresia


Process of Ovulation/Follicular rupture

- LH surge stimulates PROSTAGLANDINs and VEGF-A production in the follicle
- increased plasminogen activator converts plasminogen to plasmin
- plasmin activates collagenase
- Collagenase breaks down the follicular wall for ovum release


Endometrial Layers

Functionales: comprises outer 2/3 of endometrium
- Epithelial cells both ciliated and non ciliated
- Grows and shed during menstruation

Basales: comprises inner 1/3 of endometrium
- Regenerates and forms Functionales layer for next Cycle


Gonadotropin Releasing Hormone (GnRH)

- GnRH is a decapeptide
Released from the ARCUATE NUCLEUS
Released in pulsatile, 60-90 minute intervals.
If not released in intervals, irregular or no cycle

- endogenous opioids can inhibit GnRH release
- dopamine can stimulate or inhibit GnRH release


Mid-cycle LH surge

- Resumption of Meiosis in Oocyte
- Synthesis of Prostaglandins and Other Substances (Proteolytic Enzymes, Histamine) Needed for Follicle Rupture
- LH Causes Down-regulation of Its Own Receptors
- LH surge Terminated, Due to ↑ Progesterone And/or ↓ in Estradiol, i.e. Negative Feedback


Estrogen Feedback Systems

Estrogen at high levels: Positive Feedback
- E2 Levels >200pg/ml for > 50 Hours Induces LH/FSH Surge
- Positive Feedback of E2 Increase GnRH Receptor Concentration at Pituitary
- High E2 Levels has Stimulatory Effect on FSH and LH secretion

Low levels of Estrogen have Negative feedback:
- E2 at Low Levels Suppresses LH and FSH at the Pituitary level
- Negative Feedback at Hypothalamus (Mediated by Endogenous Opioids)
- Decreases GnRH Pulsatile Secretion
- High E2 together with Inhibin suppress FSH levels


Progesterone Feedback system

- Inhibitory Action at Hypothalamic Level
- Positive Action on Pituitary


Primary Amenorrhea

- - no menstruation with or with out signs of pubertal delay

Gonadal Abnormalities:
(A) Gonadal Dysgenesis
(B) Savage’s syndrome
(C) Chronic Anovulation

Extragonadal Abnormalities:
A) Mayer- Rokitansky- Kuster-Hauser Syndrome
B) Testicular Feminization
C) 21 Hydroxlase Deficiency
D) H-P-O Axis Abnormalities


Secondary Amenorrhea

(A) No menses in six months in an individual with a history of regular menstruation, or

(B) - No menses in twelve months in an individual with a history of irregular menstruation


Turner's Syndrome

- 45X
- Most common cause of primary amenorrhea
- Gonadal Dysgenesis (STREAK GONADS, w/o germ cells), resulting in primary amenorrhea

Other Features:
- Short stature
- Webbed neck
- Shield chest
- High arched palate
- Low hairline on neck
- Cardiovascular and renal malformations


Savage's Syndrome

Ovarian Insensitivity Syndrome

- Hypergonadotropic Hypogonadism: increased FSH & LH release to stimulate ovaries, but the ovaries don't respond
- Primodial follicles on ovarian biopsy
- Receptor or post-receptor defect


Mayer- Rokitansky- Kuster-Hauser Syndrome (MRKH Syndrome)

** Congenital absence of the uterus and vagina
- Results in primary amenorrhea
- Normal female external genitalia
- Normal ovarian function and therefore FSH is normal
- 1/40,000 female births
- Associated with urinary tract anomalies and musculoskeletal malformations


Asherman Syndrome

Secondary amenhorrhea due to loss of the basalis and scarring
- Result of overaggressive D&C
- No bleeding after progesterone challenge
- No bleeding after estrogen and progesterone challenge
- Normal FSH


Stress-related Secondary Amenorrhea

- Stress induces CRH release
- resultant effect on menstruation through suppression of GnRH release mediated by endogenous opioid peptides


Sign of Pituitary Adenoma

- Galactorrhea in setting of amenorrhea even with normal prolactin levels


Progesterone Challenge Test, or
Progesterone Withdrawal Test

- If patient responds with vaginal bleeding to Progesterone Challenge (admin progesterone, and let it wear off), proves the H-P-O axis is intact, and patient has estrogen
- Diagnosis is most likely anovulation due to polycystic ovarian syndrome

- If bleeding does not occur after Progesterone challenge but does occur after Estrogen-Progesterone Challenge, then acquired complete outflow tract obstruction is effectively ruled out



- Heavy menstrual bleeding

- Leiomyoma



- Intermenstrual bleeding (bleeding between cycles)



- Combined menorrhagia and metrorrhagia



- Painful menstrual cycles


Gravida - Para

Gravida = # of times mother has been pregnant
- current pregnancy is included in this count

Para = # of >20 week births; twins count as one birth

- Term Births (>37 weeks gestation)
- Premature Births (< 37 weeks gestation)
- Abortions or miscarriages
- Living children



- Yeast infection
- Lab: use KOH to eliminate cellular debris to visualize visualize the pseudohyphae or spores
- treat with Fluconazole


Bacterial Vaginosis (BV)

- Epithelial cells with irregular, granular edges (clue cells), which indicate clumped bacteria on the cell wall
- "Positive Whiff Test": application of 10% KOH produces an amine "fishy" odor, suggesting suggests trichomoniasis or bacterial vaginosis
- Treat with Metronidazole

- Trichomonas vaginalis: can be found on wet-mount; treat w/ Metronidazole
- Yeast infection



- caused by Haemophilus ducreyi
- Lesions called soft chancres are painful and are usually accompanied by pelvic adenopathy
- Treatment: azithromycin – 1 gram orally in single dose or ceftriaxone 250 mg IM in a single dose


Granuloma Inguinale

- caused by Calymmatobacterium granulomatosis
- lesions are red & raised
- Treatment – doxycycline, 100 mg twice daily
for minimum of 3 weeks


organism associated with Lymphogranuloma venereum

- caused by C. trachomatis
– vesicles progress to bubo formation
– a complement fixation test is available for diagnosis


Compare outpatient treatment of PID with Inpatient treatment of PID

Is an UPPER reproductive tract infection (Uterine corpus, Fallopian tubes, Ovaries)

- Ceftriaxone 250 mg IM in a single dose plus
- Doxycyline 100 mg po twice daily, to complete 14 days with or without
- Metronidazole 500 mg orally twice daily for 14 days

- Women with severe infections or inability to take and absorb oral antibiotics (nausea, vomiting, possible peritonitis, and ileus) should be hospitalized and treated until clinical improvement is evident
- Tubo-Ovarian Abscess involving fallopian tubes, ovaries, bowel and possibly other pelvic structures is a potentially lethal complication of PID


Normal vaginal pH

< 7.4 in ovulatory women


Chlamydial infections

- Obligate intracellular bacteria that grows in vitro only in specific tissue culture
- PCR is gold standard for dx
- clinically manifests as Mucopurulent cervicitis or mucopus
- if untreated, ascends to cause PID
- treat with Azithromycin; if not pregnant, can use Doxycycline

During pregnancy:
- Can cause adverse outcomes for both mother and infant
- These include preterm labor, chorioamnionitis, and postpartum endometritis
- Intrapartum transmission to infant can cause neonatal conjunctivitis and pneumonia – eye prophylaxis given to all newborns



- Organism is a gram-negative diplococcus
- infects the same columnar epithelium as chlamydia, but also the pharynx
- Mostly asympomatic, but may cause mucopurulent cervicitis
- Dx: DNA hybridization is gold standard


Molluscum contagiosum

- caused by Poxviridae
– raised papules with waxy cores are desiccated or treated with cryotherapy


Genes for Embryogenesis

1. Sonic Hedgehog Gene: CNS development; mutation can cause holoprosencephaly

2. Wnt-7 gene: Proper organization along dorsal-ventral axis

3. FGF Gene: Stimulates mitosis of underlying mesoderm, providing for lengthening of limbs

4. Homeobox (Hox) Genes: Segmental organization of appendages


absent organ due to absent primordial tissue



absent organ despite present primordial tissue


Incomplete organ development, with primordial tissue present





Extrensic disruption, occurring after the mbryonic period (>8 weeks)



Intrinsic disruption, occuring during the embryonic period (weeks 3-8)


- e.g.,
- Cleft lip and Cleft palate
- Congenital heart malformation – not chromosomal
- Clubbed foot
- Pyloric stenosis
- Open neural tube defects – anencephaly, spina bifida


Who should be offered Prenatal Testing?

- Advanced maternal age: (35yo)
- Risk of Down syndrome is about 1 in 385
- Risk of 1 in 200 in having a chromosomal abnormality
- Abnormal screening
- Family history of genetic conditions


What’s the single most common chromosomal abnormality?

Turner's Syndrome: 45XO (monosomy X)


What’s the single most common trisomy?

Trisomy 16: Usually results in spontaneous abortion


Chorionic Villous Sampling (CVS)

- Performed at 10-12 weeks gestation
- Tests for chromosomal and genetic abnormalities
- Risk of less than 1% for spontaneous abortion



- Performed at 15-20 weeks gestation (usually)
- Tests for chromosomal, genetic, neural tube and abdominal wall defects, infectious diseases
- Risk of less than 1/500 for spontaneous abortion


percutaneous umbilical blood sampling

- Tests for chromosomal and genetic abnormalities, and conditions where blood is necessary for testing
- Risk of 1-2% for spontaneous abortion


Ultrasound diagnosis of NTD

- difficult to view the lumbosacral area, so need to look for head/intracranial and neck signs

- lemon sign: flattening of the frontal bones because of being pulled in as the spine is being shifted downwards.
- banana sign: posterior rotation of the cerebellum into the cistern magna


Fluorescence in situ hybridization

- use of fluorescent DNA or RNA probe to bind to specific gene site of interest
- Used to find specific/localized microdeletions that may or may not be recognizable using standard cytogenetics
- e.g., DiGeorge/VCF, Miller-Dieker/lissencephaly, Prader-Willi/Angelman, Steroid sulfatase deficiency, Wolf-Hirschhorn, Cri-du-chat


What’s the recurrence risk in multi-factorial inheritance?

Three to five percent.

Neural tube defects
cardiac defects that are not syndromic or chromosomal
club foot
pyloric stenosis
cleft lip/cleft palate


Autosomal dominant

- Occurs in consecutive generations
- No gender specificity
- Paternal age and new mutation
- Risk of 50% to child of affected parent

- e.g., Achondroplasia


Autosomal recessive

- No gender specificity
- Heterozygotes asymptomatic
- Risk of 25% to child when both parents are carriers
- Consanguinity increases risk for affected offspring

Incidence in baby = (carrier frequency) x (carrier frequency) x 1/4


Risk in Caucasian population for being a carrier for Cystic Fibrosis

1 in 25


X-linked Inheritance

- Higher incidence of disease or lethal in males (b/c affected male is HEMIZYGOUS for X chromosome)
- Heterozygous females usually not affected or have less severe symptoms, depending on X-inactivation
- Risk of 50% to son to be affected if mother identified as a carrier


Triplet Repeat Expansion Disorders

1. Fragile X (CGG)
2. Huntington's (CAG)
3. Friedreich Ataxia (GAA)
4. Myotonic Dystrophy (CTG)


Fragile X Syndrome

- X-linked defect affecting methylation and expression of FMR1 gene
- 2nd most common cause of genetic metnal retardation in males (after Down syndrome)
- carrier frequency 1 in 250



- causes "slapped cheek"
- can cause anemia in the fetus



- can cause fetal heart and eye abnormalities
- Should not give vaccination to pregnant mother, b/c contains live virus



group of birth defects that can include:
- Vascular problems
- Arms or legs that are paralyzed or not formed correctly
- Scars
- Problems with muscles and bones
- A head that’s smaller than normal
- Blindness
- Seizures
- Learning problems

- Should not give vaccination to pregnant mother, b/c contains live virus



< 37 weeks
< 259 days



> 42 weeks
>294 days


Klinefelter's Syndrome

- Testicular atrophy
- eunuchoid body shape, with tall, long extremities
- gynecomastia
- presence of Barr Body (inactivated X chromosome)
- Dysgenesis of seminiferous tubules (elevated FSH)
- Abnormal Leydig cell function (increased estrogen)
- increased risk of breast cancer



- when a couple unsuccessfully attempts to achieve pregnancy for 1 year

- primary when it occurs without any prior pregnancy
- Secondary when it follows a previous conception
- Reasonable to begin the basic evaluation at 6 months in older patients and to consider treatment for unexplained infertility earlier in women older than 35 years of age



- the probability of conceiving during a single monthly cycle
– peaks at age 25


Clomiphene Citrate

- “fertility drugs” will correct luteal insufficiency in women with unexplained infertility
- treats PCOS: inhibits the negative feedback effect of endogenous estrogen, causing a rise of FSH and stimulation of follicular maturation
- Multiple pregnancy occurs in 6% to 8% of clomiphese citrate conceptions (vs. 20% to 30% of hMG conceptions)


Mammograms: Utility and recommended age?

- Radiologic examination of the breast is an important component of the screening process
- It is carried out in the asymptomatic woman
- The ACS recommends annual mammograms starting at age 40
- Densities and fine calcifications constitute suspicious findings (can find irregularities < 1cm in diameter)


Ultrasonography of breast: utility

- US can differentiate cystic from solid masses
- It is also useful for imaging palpable focal masses in women younger than 30 years which reduces the need for X-ray studies in this population


MRI in breast imaging

- Used as an ADJUNCT


Hyperplastic changes in breast, and role of Estrogen & Progesterone

- hyperplastic changes are caused by a relative or absolute decrease in production of progesterone, and an increase in the amount of estrogen
- Estrogen promotes the growth of mammary ducts and the periductal stroma
- Progesterone is responsible for the development of lobular and alveolar structures
- Patients with hyperplasia improve dramatically during pregnancy and lactation because of the large amount of progesterone produced by the corpus luteum and placenta


peau d’orange

- due to blockage of skin lymphatics
- may cause lymphedema and thickening of the skin
- The status of the axillary lymph nodes is the single most important prognostic factor


Breast CA in Pregnancy (better or worse than non-pregnant woman?)

- Stage for stage, prognosis for pregnant patients is not much worse than for non-pregnant patients
- Surgical treatment is the same for pregnant as the non-pregnant patient
- Adjuvant chemotherapy can be administered in the second or third trimesters of pregnancy (you don’t need to terminate the pregnancy)



process whereby human cells can have the same genetic makeup but different characteristics


Barker Hypothesis (Developmental Plasticity)

- Developmental programming – a stimulus or insult, at a sensitive or critical period induces permanent alteration in the structure and function of a babies organs
- Barker linked low birth weight to the development of hypertension, diabetes, atherosclerosis and stroke later in life



Describes the body’s ability to maintain stability during physiologic change

e.g., release of cortisol during stress


Vaccines that are contraindicated in pregnancy

MMR, varicella and HPV vaccines are Contraindicated in pregnant women
- b/c they are live vaccines