Genetics and Genomics in Maternal Newborn Care & Reproductive Health Promotion, Prevention, Care & Reproductive Health Alterations

factors that increase risk for aneuploidy

maternal age >35, smoking, folic acid deficiency, high BMI, history of trisomy

trisomy 21

genetic condition caused by extra chromosome 21

health concerns of trisomy 21

congenital heart defects, GI abnormalities, developmental delays, hyperthyroidism/leukemia

x-linked recessive

mutations in genes on the X chromosome

males (XY) mutation

need only 1 mutated X (disease parent)

females (XX) mutation

need 2 mutated (rare), usually carriers (1 normal, 1 mutated X)

carrier mother

50% chance affected sons, 50% chance carrier daughter

affected father

cannot pass to sons, all daughter become carrier

what type of test is amniocentesis?

diagnostic, confirms/rules out genetic disorders

amniocentesis

needle goes not amniotic sac, not baby

vulva

collective name for external genitalia

mon pubis

fatty tissue over pubic bone, cushions/protects underlying structures

labia majora

large outer folds of skin, protects external structures

labia minora

small inner folds inside labia major, protects vaginal and urethral openings

clitoris

highly sensitive, sexual pleasure

vaginal orfice

opening to vagina, site of intercourse/birth control entrance

bartholin gland

secrete lubricating fluid during sexual arousal

hymen

thin tissue partially covering vagina opening, no reproductive function/proof of sexual history

urethra

located above vaginal opening, excretes urine from bladder

ovaries

produces egg, releases hormone, site of ovulation

fallopian tubes

transports egg from ovary to uterus, site of fertilization

uterus

organ where fetus develops, endometrium sheds during menstruation, supports implantation during pregnancy

cervix

lower part of the uterus, dilates during childbirth, passage between uterus and vagina

pregnancy process

ovulation, fertilization, zygote formation, implantatino, placenta formation, hCG hormone,

ovulation

egg released from ovary

fertilization

occurs in fallopian tube

zygote formation

fertilized egg begins cell division

implantation

occurs uterine lining

placenta formation

supports fetal oxygen and nutrient exchage

hCG hormone

produced after implantation, maintains progesterone production, prevents menstruation

hormones

estrogen, progesterone, hCG

estrogen

develops female sex characteristics, regulated menstrual cycle, builds uterine lining

progesterone

maintains pregnancy, thickens uterine lining, increases in luteal phase

spermatogenesis

sperm production occurs in the testes

ejaculation path

testes, epididymis, vas deferens, ejaculatory duct, urethra, outside body

seminal vesicles

produce nutrient rick fluids/supports sperm energy, major portion of semen

prostate gland

adds alkaline fluid, helps sperm survive acidic vaginal environment

bulbourethral glands

secretes lubricating fluid, neutralizes urethra before ejaculating

male hormones

testosterone

testosterone

produced by testes, produces sperm, deep voice, facial/body hair, muscle mass, libido

function of prostate gland

secretes fluid that transports sperm

perimenopause

irregular period, hormones fluctuate, transition period before menopause

hormonal changes in perimenopause

estrogen levels decreases, ovaries produce less hormones

menstrual changes in perimenopause

periods become irregular, more/less frequent, heavier/lighter

common symtpoms of perimenopause

hot flashes, night sweats, mood changes, sleep disturbances, fatigue, vaginal dryness, skin changes

long term body changes in perimenopause

decreased bone density, changes in lipids

anti-mullerian hormone (AMH)

reflects ovarian reserve, helps estimate time to menopause

lifestyle management perimenopause

exercise (weight-bearing), healthy diet (calcium and Vitamin D)

menopause

12 consecutive months without menstrual period, caused by decrease estrogen production

timing of menopause

~51 years, varies by individual, natural/induced

hormonal changes in menopause

estrogen decreases significantly, progesterone decrease, ovarian function declines

tx for menopause

lifestyle changes, possible hormone therapy, support emotional and psychosocial needs

mastitis

infection/inflammation of the breast tissues

types of mastitis

lactational mastitis, non lactational mastitis

cause of mastitis

staphylococcus aureus

RF mastitis

milk stasis, overproduction, nipple trauma/cracks, hx of mastitis

nonlactational mastitis types

periductal, granulomatous

periductal mastitis

around areola, associated with/ smoking and obesity

granulomatous mastitis

less common, can mimic breast cancer,

s/s of mastitis

breast erythmea, warmth, pain, swelling, fever, malaise

diagnostics for mastitis

ultrasound, incision/drainage, breast milk cultures, blood cultures

tx for mastitis

anagesics (NSAIDs), broad spectrum antibiotics

lactational mastitis care

continue breastfeeding/pumping, empty breasts regularly

comfort measures for mastitis

warm compress (before feeding), cold compress (after feeding)

minimizing manifestations of fibrolytic breast disease

oral contraceptives, analgesics, well-fitted supportive bra, limit salt/fat, reduce caffeine, combines estrogen-progestin oral contraceptives