Genetics, Conception, Fetal Development Flashcards

1
Q

Chromosomal Abnormalities

A
  • A major cause of reproductive loss, congenital problems, and gynecologic disorders
  • Can occur during mitosis (somatic cells) or meiosis (sex cells)
    > chromosome #: down syndrome
    > a single gene controlling a trait, disorder, or defect
    > sex chromosome abnormalities
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2
Q

Clinical Genetics - Multifactorial

A
  • Most common genetic malfunction
  • Combination of envir’t and genetic factors
    > cleft lip/palate
    > congenital heart disease
    > neural tube defects
    > pyloric stenosis
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3
Q

Genetic Counseling

A
  • Standard practice in obstetrics
  • Goal is to identify risk
  • Genetic hx should be obtained using a questionnaire or checklist
  • Genetic counseling
    > info
    > education
    > support
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4
Q

Conception

A
  1. Fertilization
  2. Cleavage - 1 day
  3. Morule - 3 days
  4. Blastocyst - 4 days
  5. Implantation - 6 days
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5
Q

Process of Implantation

A
  • Endometrium becomes thick and vascular
  • Decidua after implantation
    > trophoblasts make contact w/ endometrium
    > maternal side of placenta develops
  • Morula and blastocyst develop trophoblast
    > becomes chorion
    > chorion produces HCG
    > chorionic villi develop out of trophoblas and extend into blood-filled spaces of endometrium
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6
Q

Intrauterine Development

3 stages

A
  • Ovum or Preembryonic Stage
    > conception - 14 days
  • Embryonic Stage
    > day 15 - 8 weeks gestation
    > most critical time; teratogens
  • Fetal Stage
    > 9 weeks - birth
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7
Q

Intrauterine Structures

A
  • Yolk sac
    > aids in transferring maternal nutrients & oxygen
  • Umbilical cord
    > supplies the embryo w/ maternal nutrients & oxygen
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8
Q

Chorion & Amnion Membranes

A
  • The 2 layers of amniotic sac
  • Functions:
    > provides space for movement & growth
    > maintains consistent temperature
    > protects from pressure/impact
    > barrier against ascending infection
    > cushions umbilical cord
    > composed of water secreted by amnion & fetal urine
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9
Q

Amniotic Sac & Fluid

A
  • Incrs during pregnancy and peaks at 38wks, then starts to dcr
  • Important factor in assessing fetal well-being
  • Normal range of AFI = 5-20cm on U/S or 300-2000mL
    > less than 300mL = oligohydramnios; concerning for renal abnormalities
    > greater than 2000mL = polyhydramnios; concerning for gastrointestinal tract abnormalities
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10
Q

Placenta Structure

A
  • Maternal>placental>embryonic circulation by day 17
  • Functional unit of placenta divided into 15-20 cotyledons
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11
Q

Placenta Function

A
  • Endocrine gland (hCG, human placental lactogen, & estrogen)
  • Metabolic func & waste
  • Nutrient storage
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12
Q

Fetal Circulatory System

A
  • Cephalocaudal formation
    > most oxygen-rich blood circulation in head, neck, & arms
  • 3 characteristics for sufficient oxygenation:
    > fetal Hgb 20-30% more oxygen than mom
    > Hgb concentration 50% greater than mom
    > FHR 110-160, cardiac output per unit body weight higher than an adult
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13
Q

Fetal Maturation

hematopoietic syst
renal syst
respiratory syst

A
  • Hematopoietic
    > formation of blood occurs in the yolk sac
  • Renal
    > urine = major constituent of amniotic fluid
  • Respiratory
    > primary surfactants: prevents lung collapse during exhalation and reduces lung surface tension making breathing easier
    > also used as a measure of fetal lung maturity: lecithin to sphingomyeline ratio 2:1
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14
Q

Fetal Maturation

gastrointest syst
hepatic syst

A
  • Gastrintestinal
    > fetal nutrition & elimination is taken care of by placenta
  • Hepatic
    > prominent liver for blood production
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15
Q

Fetal Maturation

neurologic
endocrine

A
  • Neurologic
    > stressors on fetus & neonate can damage CNS long after embryonic stage
    > sensory awareness (taste, sounds, purposeful movements)
  • Endocrine
    > thyroid develops in 1st few weeks as head develops; maternal thyroxine does not cross placenta
    > pancreas forms in mid-1st trimester
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16
Q

Fetal Maturation

reproductive
musculoskeletal

A
  • Reproductive
    > differentiation occurs at 7wks gestation
  • Musculoskeletal
    > bones & muscles develop by 4th wk of embryonic development; ossification occurs throughout childhood
17
Q

Fetal Maturation

integumentary
immunologic

A
  • Integumentary
    > vernix caseosa
    > fingerprints by 16wks
  • Immunologic
    > IgG crosses placenta
    > IgA present in colostrum after birth
    > fetus produces IgM
18
Q

Twins

A
  • Dizygotic twins (fraternal)
  • Monozygotic twins (identical)
  • Conjoined twins
19
Q

Nongenetic Factors Influencing Development

A
  • Maternal nutrition
    > malnutrition
    > folic acid: especially before conception; prevention of neural tube defects
  • Teratogens:
    > drugs
    > chemicals
    > infection
    > exposure to radiation
    > maternal condition