Infertility and Genetic Disorders

primary infertility

unprotected sex over 12 month time period where conception doesn't occur

secondary infertility

unable to conceive or sustain pregnancy after 1 or more successful pregnancies

essential components of fertility in females

cervical mucus, patent tubes, normal ova release, no obstruction, endometrium, hormones

essential components of fertility in males

normal sperm, unobstructed genital tract, normal secretions, sperm able to reach cervix

ways to improve fertility

no douching or artificial lubricants, retain sperm 20-30 min after sex, sex every other day while fertile, decrease anxiety and stress, nutrition

infertility workup for women

basal body temp, cervical mucus changes, hormonal assessment, endometrial biopsy, transvaginal US

infertility workup for men

ductal obstruction or abnormal sperm

meds infertility treatment

clomid, progesterone, gonadotropins (FSH, LH), parlodel

therapeutic insemination infertility treatment

donor or husband sperm placed in cervical os or uterus

when would therapeutic insemination be used

men with low sperm count or slow motility

in vitro fertilization infertility treatment

egg collected from ovary, fertilized in lab, placed in uterus after embryo begins to develop

when would IVF be used

pts with mucus abnormalities, male infertility, women with blocked tube, cervical factor, same sex couple

gamete intrafallopian transfer infertility treatment

egg removed by laparoscopy and placed with sperm, fertilization occurs in fallopian tube and egg travels to uterus itself

when would gamete intrafallopian transfer be used

pts who want normal way to get pregnant

zygote intrafallopian transfer infertility treatment

eggs retrieved and incubated with sperm and put into fallopian tube once fertilization occurs

adoption infertility treatment

reliable sources, international vs domestic agency, can be expensive and time consuming

effects of infertility

stress on relationship, guilt, frustration, anger, loss of control, incompetence, social stigma, relationship loss with HCP

karyotype

pictorial view of chromosomes

phenotype

observable expression of trait

how does the karyotype work

each parent gives 22 chromosomes and one sex chromosome. sex of child determined by male

Down's Syndrome

trisomy 21, 3 alleles on chromosome 21

chromosomal abnormalities

translocation, additions or deletions, sex chromosome defects

turner syndrome

inactive X chromosome

klinefelter syndrome

extra X chromosome, XXY, small testicles, little to no sperm, increased breast tissue

autosomal dominant inheritence

affected individual has affected parent, 50% chance to pass to child

autosomal recessive inheritence

affected individual has carrier parents, 25% chance to pass to child if both parents carry, 50% chance to be a carrier

genetic ultrasound

visualize fetus for abnormalities

genetic amniocentesis

get genetic material through amniotic fluid that tells us if risk for chromosomal disorders

chorionic villus sampling

test for genetic material and get chromosomal info

alpha-fetoprotein

mom blood test- increased levels mean neural tube defect. decreased levels increase risk for downs syndrome

noninvasive prenatal testing with cell-free fetal DNA

measures circulating cell-free DNA of baby in maternal blood

nurse's role in prenatal diagnostic testing

identify families at risk, give info, help cope, referrals