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ADRMS - OBGYN Penny > Genetic Testing/Normal 1st trimester > Flashcards

Genetic Testing/Normal 1st trimester Flashcards

1
Q

A substance causing abnormal structures in an embryo during development (3 categories)

  • Physical agents
  • Drugs & Chemicals
  • 3 Maternal factors
A

Teratogenesis

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2
Q
  • Radiation
  • Heat exposure (hypothermia) exposure between 4-14 weeks
  • Mechanical Factors- UT anomalies, fibroids, oligo & amniotic bands
A

Physical Agents

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3
Q
  • Alcohol
  • Coumadin
  • DES (Diethylstilbestrol)-Cause Genitourinary defects
A

Drugs & Chemicas

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4
Q
  • Diabetes

* Sickle Cell Anemia

A

Maternal Factors

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5
Q

-genetic defects that can be diagnosed microscopically

A

Chromosomal abnormalities

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6
Q

1 parent is affected and transmitted to the next generation 50% transmission rate.

A

Autosomal dominant gene

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7
Q

Parents usually unaffected by trait and skips a generation 25%.

A

Autosomal recessive

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8
Q

complete set of chromosomes in a cell

A

Karyotype

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9
Q

Normal balanced set of 23 chromosomes

A

Euploid

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10
Q

An unbalanced set of chromosomes

A

Aneuploid

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11
Q

presence of an extra chromosome

A

Trisomy

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12
Q

Entire physical and physiologic makeup of an individual

A

Phenotype

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13
Q

Genetic composition of an individual

A

Genotype

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14
Q
  1. Nuchal Transluceny
  2. Free Beta hCG and PAPP-A
  3. CVS- Chorionic Villi Sampling
A

First Trimester Testing

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15
Q
  • Performed between 11.5 and 13.5 weeks of pregnancy w/ CRL between 4.5 and 8.3 cm
  • Calculates Trisomy 18 or 21(Downs)
  • <3mm =normal ( Do not mistake for amnion posterior)
A

Nuchal Translucency (NT)

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16
Q
  • Produced by trophoblastic tissue

* LOW levels indicate abnormal implantation, poor placenta development or Trisomy 21

A

Free Beta hCG and PAPP-A

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17
Q
  • Performed between 9 & 12 weeks gestation

* Trophoblastic cells are obtained; takes 2 days for results

A

CVS - Chorionic Villi Sampling

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18
Q
  1. Elevated MSAFP
  2. Decreased MSAFP
  3. Human Chorionic Gonadotropin (hCG and unconjugated estriol (eE3)
A

Second trimester testing

AFP(Alfaphatptein) - protein produced by fetal liver

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19
Q 
may be associated with:
•	Wrong dates 
•	Multiple gestations
•	Open neural tube defects
•	Ventricle wall defects, etc.
A

Elevated MSAFP -(≥ 2 MOM)

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20
Q
  • Wrong dates
  • Trisomies 13, 18, 21
  • Fetal demise
A

Decreased MSAFP

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21
Q

• Screens for Downs (21)
• hCG ↑ (2X) value; uE3 will be ↓
4. Inhibin-A- increased w/ Downs syndrome

A

Human Chorionic Gonadtropin (hCG)

22
Q

MSAFP, hCG, uE3 & Inhibin- A are all DECREASED

A

Trisomy 18

23
Q

MSAFP & uE3 are LOW; hCG and Inhibin- A are HIGH

A

Trisomy 21

24
Q
  • performed @ 16wks gestation.
  • Used to determine FETAL LUNG MATURITY (Lecithin/sphingomyelin ratio)
  • Routine for women over 35.
  • Results take 2 weeks.
A

Amniocentesis

25
0-13 weeks
1ST TRIMESTER
26
13-28 weeks
2ND TRIMESTER
27
28-42 weeks
3rd TRIMESTER
28
male or female reproductive sell (occur or spermatozoa)
Gamete
29
fertilized single cell organism
Zygote
30
ball of cells, in Fallopian tubes
Morello
31
collection of cells implants into uterus
Blastocysts
32
• produced by trophoblastic tissue and basis of current pregnancy test. • 1st detected level is 10 days after conception/ovulation. (LMP 3 weeks) and considered (+) @ 30 mIU/mL • Doubles every 2-3 days • Plateaus around 8-9 weeks then declines o Qualitative- urine test + or – only o Quantitative- results a specific level o ************ IRP = ( 2 x 2IS ) Equation
hCG
33
wrong date, multiple test, or trophoblastic disease
Increased hCG
34
wrong dates, demise, ectopic
Decreased hCG
35
Blastocysts impacts in endo by the end of the 3rd week
Implanations
36
- Decidua capsularis - Decidua basalis - Decidua Parietalis (Decidua Vera)
3 distinct layers implantation
37
Closes over and surrounds blastocyst
Decidua capsularis
38
Develops were blastocyst attaches; contributes to maternal portion of placenta
Decidua Basalis
39
results from hormonal influence
Decidua Parietalis
40
* Maternal component derived from decidua basalis * Fetal component comes from trophoblastic tissue & develops into chorionic villi by 5 weeks which becomes the chorion frondosum (fetal part of placenta).
Placentation
41
is actually chorionic villi that be comes compressed and avascular. It surrounds GS and extends up to and merges with the edge of the placenta
Chorionic membrane
42
is formed from inner Blastocyte cells. It is attached to the embryonic disc.
Amniotic membrane
43
begin to fuse by middle of first trimester and completed by 12-16 weeks.
Amnion and Chorion
44
* hCG is > 1000 TRANSVAGINAL (using 2IS) (if using IRP * hCG is >1800 TRANSABDOMINAL (using 2IS) double these #s) * Certain LMP > 5 weeks * GS GROWS 1 mm/day * MSD in mm = (AP + long + trans) ÷ 3 mm *****on test*** * MSD-CRL ≤ 5mm is assoc. w/ ↑ risk of SAB * YS is present when MSD is ≥ 13mm
Gestational sac
45
• Visible by end of 5th week TV • Abnormal Signs: o Diameter > 6 mm between 5 & 10 weeks GA **** ON TEST**** o Calcified YS only seen with embryonic demise o Almost always indicates Spontaneous Abortion o Located between the amnion and chorion o “ double bleb” sign is yolk sac & amnion *****FETAL GENDER cannot be differentiated by SONO until 16 WEEKS ***
Yolk Sac
46
* Most accurate of all measurements throughout pregnancy accurate (+/-) 3-5 days. * Embryonic growth rate 1mm/day
CRL Rule of Thumb= CRL (mm) + 42 = GA (days)
47
hypo area posterior to the fetal crown. Visible @ 8 wks
Rhomboencephalon
48
8-11/12 wks midgut rotation begins. Normal by wk 14
Midgut herniation
49
No sac defect usually on right side with umbilical cord in same plane on left. Not ass with abnormalities
Gastroschisis
50
herniated gut within a sac. Defect is centrally located within umbilical cord associated with abnormalities such as heart defect or aneuploidy
Omphalocele

ADRMS - OBGYN Penny (23 decks)

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