Wk 3: Conception, fetal dev., genes, fertility, adoption, surrogacy Flashcards
chromosomes
- You have 46 total
- 23 pairs
- sex chromosome is the 23rd one
Haploid vs diploid chromosomes
- Haploid = Only sex chromosomes which are called gametes. They have a single set of unpaired chromosomes.
- Diploid = The presence of two complete sets of chromosomes in an organisms cells. 23 pairs.
Karyotype
- A picture of all a person’s chromosomes
- Homologous = same genes arranged in the same order
Homologous pairs
- having the same position, value, or structure
- Chromosomes come in homologous pairs
- Matching genes = one in each parent
- Gene for eye color for example
DNA - deoxyribonucleic acid
- Carries genetic info
- Genes = rungs of the ladder.
- Give physical characteristics
- A chromosome has 100 to 1000s of genes
- More than one gene may be responsible for a trait. ie 3 genes for eye color.
Traits
- Gene is a segment of dna that determines a trait
- Traits are determined by the genes on the chromosomes
The work of chromosomes
- chromosome 14: Premature birth, slow growth before and after birth, short stature, small hands and feet, early onset of puberty
- c. 21: intellectual disablity, delayed dev., characteristic facial features such as down syndrome
- c. 22: Workings of the immune system, CHD, schizophrenia, cancers including leukemia
Allele
- Every trait has at least two alleles
- ## They are the different possibilities for a given trait
Dominant and recessive genes
- Dominant: prevents recessive from showing
- Recessive: a gene does not show even thought it is present. Must have two recessives to express gene
Homo vs heterozygous
- Homo: RR or rr (both d or r)
- Hetero: Rr (combo of D and r)
- Refers to alleles in this case
Chrome. mutations
- Less common than gene mutations…gene: CF, sickle anemia, celft palate.
- Chromosome mutations are more drastic: down syndrome, turner syndrome
- Caused by failure of homologous chromes. to separate during meiosis
- Pairs no longer look the same
Terms of chromosome mutation
- Deletion
- Duplication
- Inversion
- Translocation
- Miscarriage may happen in these cases
Examples: down syndrome
- Trisomy 21. 47 chromosomes
- extra chromosome pair at #21.
- Flattened nose and face
- Spacing of the toes, simean crease that goes all along the hand
Mosaicism
- a condition in which cells within the same person have a different genetic makeup
- can affect any type of cell, including:
- Blood cells
- egg and sperm cells
- Skin cells - caused by an error in mitosis very early in dev. of fetus. Ex of mosaicism: turners, or down.
X-linked recessive. Sex linked to mother.
- Means females carry the disorder
- females have a 50% chance of being a carrier
- Males have 50% chance of exhibiting the disorder when born to a carrier mother
- Besides hemophilia A & B, color blindness, and “fragile X syndrome”, are examples of this disorder
Autosomal recessive pattern
- The gene in question is located on one of the numbered, or non-sex, chromosomes
- Diseases only expressed when 2 copies of the recessive allele are inherited
- Subsequent pregnancies carry same risk percentage as the first one:
- transmission not related to gender
- Marrying blood relative increases risk of this disease: 25% chance child will have it, 50% child is carrier, 25% chance child is neither carrier or diseased
Autosomnal Dominant
- Only one abnormal gene from one paren tis necessary for disease/disorder manifestation
- The affected parent has 50% chance of having a child with the disorder
- Occurrence not affected by gender and occurs in each generation
- Normal or unaffected individual does not transfer/transmit disorder to offspring
Examples of autosomnal dominant diseases
- Huntington disease
- Polycystic kidney disease
- Polydactyly
- Achondroplasia
- Neurofibromatosis
Genetic counseling is:
- Estimation of risk:
1. occurrence of risk:- parents are known to be at risk for producing a child with disease
- Recurrence risk:
- once they have produced a child with disease
- Interpretation of risks
- parents are known to be at risk for producing a child with disease
Punnet square
- One parent on top
- one on the side
- Each box is 25%
The four symbols of a pedigree
- Circle = female
- Square = male
- Triangle = Stillborn
- Diamond = Miscarriage
Gamete has how many total chromosomes ?
- 23 total chromosomes. Haploid!
- So each sperm and egg has 23 chromosomes !
Fetal growth and development
- after sperm enters egg, within 38 hours, cell division begins
- by the 10th day the embryo embeds in the uterus
Know
- zygote is the name of the fertilized egg
- Morula: 16 cells.
- Blastocyst: After morula, by 5th or 6th day. bunch o’ cells.
- Embryo until 8th week
- then fetus till birth
By which day does the embryo implant in the uterus
By the 10th day
Intervillus space in placenta
- where oxygen is absorbed, and baby’s CO2 is offput (gas exchange)
- Their blood does not mix, but chemicals can pass
- Spiral arteries involved
Fetal growth chart
- Heart: wk 6 - 8
- Upper limbs: 6 - 8
- Eyes: wk 8 and past
- First 7 - 8 wks: the entire structure of the fetus
- 12 - 16 wks and after: its formed, and then they grow and mature.
landmark devs. 6, 7, 8th wks
- 6 wks: heart beat
- 7 wks: essential organs start to form
- 8 wks: Size of a grape
landmark devs. wk 12, 16, 20:
- 12 wks: 2 1/2 inches long
- 16 wks: 4 & half inches long
- 20 wks: 6 inches long, yawns makes faces
landmark dev. wk 24
- 9 inches long
- Hiccups
- sucks thumb or toe
Infertility
- Defintion: for women up to age 35, failure to get pregnant within one year of trying
- After age 35, failure to get pregnant after 6 months of trying
- Infertility does not include miscarrying or being unable to carry a baby to childbirth
The most common overall cause of female fertility is the…
- ….failure to ovulate, which occurs in 40% of women with fertility issues
- Not ovulating may be a cause of:
- Primary ovarian insufficiency
- Polycystic ovary syndrome
Infertility - male causes
- Male factors: decreased sperm count
- increased scrotal heat
- Impaired sperm motility/movement
- Smoking
- Steroids, prednisone, antihypertensives
- Tagamet can affect spermatogenesis
- Diabetes can cause vascular damage
Female factors of infertility
- Age (over age 35 for women or over 40 for men)
- Anovulation can ocur for many reasons:
1. Hypothyroidism
2. Poor health
3. Consistent strenuous exercise (marathon runner etc)
Female factors of infertility (pt. 2)
- PID w/ scarring or adhesions
- STDs
- Weight problems
- Eating disorders
Female factors of infertility (pt. 3)
- Uterine problems: fibroids/benign tumors may block fallopian tube entrance or could decrease space available for pregnancy implantation
- Endometriosis: Implantation of endometrial cells outside of uterus and may block fallopian tubes
- Cervical problems; Infection can increase mucous decreasing sperm motility. - stenosis
- cervical polyps
Infertility Assessment
- Complete hist for the couple:
1. previous illnesses
2. hist, meds, mensrtual hist
3. Track temp and track ovulation
See table 5-1, p. 107 for assessments with infertility
Medical tx for infertlity
- Laparoscopic or laparotomy to deal with adhesions, fibroids, endometriosis
- Be familiar with possible fertility meds such as clomid or pergonal which causes over-stimulation of ovaries, so requires close medical observation & frequent ultrasounds
NRSG interventions r/t infertility
- Show compassion and willingness to listen
- Avoid telling couple how they’re supposed to feel
- Provide emotional support
- Accept resistance one partner may show
- Regarding tx options - be clear with pt edu, which should involve spouse/significant other
- Provide accurate info and avoid false hopes
Infertility can negatively impact a marriage
- Blaming who’s at “fault”
- Refusing to allow for in-vitro fertilization
- Refusing to adopt
- Refusing to allow for surrogacy
Adoption
- is a lifelong process
- The process is not a one time event
- The adoption itself is a one-time event, but the effects of living with adoption are lifelong
History
- Informal adoptions prior to 1917
- Farmers had too many kids. Neighbor offers to take one and raise it for help on their own farm.
- 1917: closed adoption law
- 1930: All states formal laws on closed adoption
- 1960/70s: open adoptions more common
Hist. cont. Cultural shift
- Unplanned pregnancy, 1970s, 30% adopted
- 2000s to the present: 49% abort, 49% keep baby, 1-2% adopt out
Adoption today
- Planned adoption
- Surrogacy:
- 748 in 2004
- 1448 in 2010
- 2,8007 in 2015
- Gestational carriers (surrogate workers)
- Out sourcing to foreign countries
- Unique ethical issues
Who is involved?
- Birth mother
- Agency
- Social worker
- Attorney
- Adopting/intended parent
Costs: surrogacy
- $80,000 to $100,000 – own eggs or frozen embryos.
- Fees to agency, gest. carrier, attorney and social worker
- Legal and medical costs and money to cover the carrier’s maternity wardrobe and travel expenses
- Costs of harvesting the egg or embryo
- Incidentals include paying the gestational surrogate for any lost wages if she is put on bed rest or day care costs for her other children
International adoption vs private domestic adoption
- International: $25,000 - $50,000
- Private domestic adoption: $20,000 - $35,000 –> application fee, agency fee, home visit, background checks, birth mother’s expenses, medical expenses, rematch fee (if baby is declined), termination rights fee, and father’s termination rights fee.
Open adoption definition
- Birth mother signs the baby over to the adopting parents, but also signs an agreement about future contact, wether monthly, birthdays, etc.
Seven core adoption issues
- Rejection
- Guilt/shame
- grief
- Identity
- Intimacy
- Mastery/control
- Loss
Adopted person issue:
- Birth family
- bio, genetic, cultural hist.
- Belonging
- security
Birth parent loss
- Child
- social isolation
- body and self image
- future relationships
Adoptive parent loss
- “dream” child
- immortality ….. ?!?!
- self
Adopted person (rejection)
- Not keepable
- self esteem issues
- fear of abandonment
- fear of exclusion
Guilt and shame: adopted person
- Tainted
- A mistake
- Different
- Defensive/angry
Guilt and shame: birth parent
- a secret
- How much to share?
- Who do I tell?
- Fears judgment
- Double blind
Grief: Adopted issues
- Somatic issues
- no permission to grieve
- Depression
- Acting out
- Lack of “fit”
Intimacy: adopted person
- Fear of getting close
- Concerns about incest
- Missed the story of the day they were born
Intimacy: Birth parent
- intimacy = loss
- At risk for multiple relationships
- Impacts relationship with other children
Intimacy: Adoptive parent
- Relationship difficulties
- Child’s distance triggers fear
- Missed early opportunities
Emotions of affected people in adoption –> not all here, review in slides
baby belongs to birth mom until relinquished.
- No guarantees this will happen
- Oregon law protects rights of pregnant women until relinquishment
Labor & adoption
- Avoid intake interview with everyone present…I.E. Birth mom, her support person, + adoptive family
- Best: interview mom in private:
- Request all visitors to leave
- “what do you want?”
- “How can I support you?”
Birth plan
- Usually have one. Look at it!
- Share info with other members of the healthcare team taking care of her
- Explain when/what is happening
Time with baby
- Past was “out of sight, out of mind”
- Very important for birth mom to have quiet time with baby
- Encouraged to name baby, or choose together with involved adoptive family
Relinquishing
- Cannot make a legal commitment until after delivery
- Usually at the time of mom’s discharge
- Formal papers are signed - many variations, dependent on hospital –>
- Relinquishing forms
- Hospital forms
- Wall goes up as placement happens
relinquishing cont: Handoff
- Agency or attorney
- If to family, in the presence of…
- Requires proper photo ID and paperwork
- Placement ceremony, entrusting the care for this baby to the adoptive parents
After discharge - adoption - coping
- 1 - 3 months usually most difficult
- Open adoption: see baby if appropriate, call adoptive parents
- Next few months continue to be difficult: Seeing adoptive family loving and caring for baby, observing baby thrive, personal life shifting back to “normal”
Surrogacy
- Traditional surrogacy
- Gestational carriers (surrogate workers):
- Rate grew 89% in just 4 years. between 2004 - 2008 from 738 to 1400
- Income: $12,000 - $25,000 per pregnancy (0.50 per hour)
- Cost to intended parents: $40,000 - $120,000
- Many are military wives
Outsourcing to foreign countries
- Unique ethical issues: women serving as surrogates come from families of the lowest income brackets - exploitation fo vulnerable women?
Surrogacy definition: traditional
- Baby is biologically related
- Woman’s egg, donated sperm
- Artificial insemination (AI)
- She agrees to carry the child to term and thereafter relinquish her parental rights to the child
Surrogacy: Gestational carriers
- Baby is not biologically related
- In-vitro fertilization
Know slide 105 definitions!! … IVF:
- In vitro fertilization
- Removal of one or more eggs from a woman’s ovaries just before ovulation
-The eggs are then placed with sperm and fertilization takes place - The fertilized egg is then transferred to the woman for fertilization
TDI
- Therapeutic donor insemination
- Formerly known as AID
- This involves the use of donor sperm to fertilize a woman’s egg, typically through artificial insemination
GIFT definition
- Gamete intra fallopian transfer
- This procedure involves removal of the egg just before ovulation, then placement of the egg and sperm together into the woman’s fallopian tube, where fertilization will occur
Egg donation
a woman donates her eggs for use by another woman in IVF or GIFT procedures
Sperm donation
A man donates sperm for TDI
Legal matters
- This is not an adoption, so we don’t say adoption parents
- we use “intended parents” when talking about genetic parents
- Declaratory judgment of parent
- Gestational carrier’s wishes are primary
- Unless parent’s have signed a Medical Power of Attorney for Medical decision making
ID bands - check your hospital’s policy
- Surrogate: the newborns will be issued one set of ID bands
- The surrogate will be issued a corresponding ID band
- The final ID band is to be designated by the surrogate
Gestational carrier w/ ID bands
- The newborn(s) will be issued two sets of ID bands
- One set for the gestational carrier and one set for the intended parents with their surname instead of the gestational carrier’s
Birth certificate
- Oregon state law requires the name of the surrogate/gestational carrier on the birth certificate
- Leave the father’s name blank if the surrogate/gestational is married. If she is not married, the name of the adoptive father is put on the form
Pathophysiology Mosaicism
- Mitosis goes bad
- may miscarriage
- 50% cells could be abdormal
- if happens later could be less severe