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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
Q

0-13 weeks

A

1ST TRIMESTER

26
Q

13-28 weeks

A

2ND TRIMESTER

27
Q

28-42 weeks

A

3rd TRIMESTER

28
Q

male or female reproductive sell (occur or spermatozoa)

A

Gamete

29
Q

fertilized single cell organism

A

Zygote

30
Q

ball of cells, in Fallopian tubes

A

Morello

31
Q

collection of cells implants into uterus

A

Blastocysts

32
Q

• 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

A

hCG

33
Q

wrong date, multiple test, or trophoblastic disease

A

Increased hCG

34
Q

wrong dates, demise, ectopic

A

Decreased hCG

35
Q

Blastocysts impacts in endo by the end of the 3rd week

A

Implanations

36
Q
  • Decidua capsularis
  • Decidua basalis
  • Decidua Parietalis (Decidua Vera)
A

3 distinct layers implantation

37
Q

Closes over and surrounds blastocyst

A

Decidua capsularis

38
Q

Develops were blastocyst attaches; contributes to maternal portion of placenta

A

Decidua Basalis

39
Q

results from hormonal influence

A

Decidua Parietalis

40
Q
  • 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).
A

Placentation

41
Q

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

A

Chorionic membrane

42
Q

is formed from inner Blastocyte cells. It is attached to the embryonic disc.

A

Amniotic membrane

43
Q

begin to fuse by middle of first trimester and completed by 12-16 weeks.

A

Amnion and Chorion

44
Q
  • 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
A

Gestational sac

45
Q

• 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 **

A

Yolk Sac

46
Q
  • Most accurate of all measurements throughout pregnancy accurate (+/-) 3-5 days.
  • Embryonic growth rate 1mm/day
A

CRL

Rule of Thumb= CRL (mm) + 42 = GA (days)

47
Q

hypo area posterior to the fetal crown. Visible @ 8 wks

A

Rhomboencephalon

48
Q

8-11/12 wks midgut rotation begins. Normal by wk 14

A

Midgut herniation

49
Q

No sac defect usually on right side with umbilical cord in same plane on left. Not ass with abnormalities

A

Gastroschisis

50
Q

herniated gut within a sac. Defect is centrally located within umbilical cord associated with abnormalities such as heart defect or aneuploidy

A

Omphalocele

ADRMS - OBGYN Penny (23 decks)

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