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Prenatal > Final study guide > Flashcards

Final study guide Flashcards

1
Q

G in G0P0000

A

gravidity - how many pregnancies

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2
Q

T in TPAL

A

Term deliveries, greater or equal to 37 weeks; twins count as one

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3
Q

P in TPAL

A

preterm deliveries (20 to 36-6/7 weeks); twins count as one

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4
Q

A in TPAL

A

abortions, miscarriages, or terminations prior to 20 weeks

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5
Q

L in TPAL

A

living children

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6
Q

Valproic acid

A

spina bifida (most common), ASD, cleft palate, hypospadias, polydactyly, craniosynostosis

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7
Q

Maternal PKU

A

CHD, microcephaly, low birth weight/slow growth, ID

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8
Q

Maternal diabetes

A

spontaneous abortion, stillborn, increases birth defects by 300% (CHD, caudal regression/sacral agenesis, open neural tube defects, hypoplastic femurs, renal abnormalities)

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9
Q

Alcohol

A

growth restriction, FASD, change in the structure or functioning of the CNS. characteristic facial features.

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10
Q

Accutane

A

major malformations and high rate of mental retardation

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11
Q

TORCH infections

A

TORCH - toxoplasma gondii, other agents, rubella, cytomegalovirus (CMV), and herpes simplex virus (HSV). May cause miscarriage, stillbirth, IUGR, microcephaly, lethargy, hearing loss, and CHD.

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12
Q

Mercury

A

brain damage, hearing & vision problems

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13
Q

Caffeine

A

typically thought to cause IUGR and preterm delivery, but recent studies have refuted this. Increased risk of fetal death.

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14
Q

Radiation

A

stunted growth, deformities, abnormal brain function, or cancer.

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15
Q

Warfarin

A

Inhibits vitamin K; skeletal abnormalities, rhizomelia, nose malformations, prominent forehead and flat face, rhizomelia, club foot, brachydactyly, nail dysplasia, CNS structural defects, eye defects, IUGR

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16
Q

Thalidomide

A

limb defects

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17
Q

Illegal substance use

A

cocaine: strokes, SGA, microcephaly, prematurity
marijuana: no assoc. with growth and morphology, generally no affect on miscarriage rates and apgar scores, but a study found heavy users may have shortened gestation time.
meth: dopamine response, strokes, SGA, microcephaly, prematurity

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18
Q

“All or nothing” concept

A

Embryonic exposure that happens before organogenesis results in either no adverse embryonic outcome or in embryonic death.

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19
Q

When in pregnancy is the baby most susceptible from effects of teratogens?

A

In general, during the first trimester fetuses are most susceptible to malformations, 2nd and 3rd trimester are more susceptible to IQ effects. 3-8 weeks greatest sensitivity.

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20
Q

what are the risk factors for developing gestational diabetes?

A

severe obesity, strong family history of type 2 diabetes, previous history of GDM, impaired glucose metabolism

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21
Q

How common are complications of pregnancy? (gestational diabetes, preterm labor, preeclampsia)

A

11.4% of live births nationwide are preterm (Oklahoma is a little higher), hypertensive disorders complicate 5-10% of all pregnancies, gestational diabetes affects 4.2% of pregnacies

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22
Q

Which conditions have specific guidelines around carrier screening?

A

SMA, CF, hemoglobinopathies, fragile X, tay sachs

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23
Q

Which recessive conditions have a higher prevalence in Ashkenazi Jewish pop?

A

tay-sachs, canavan disease, familial dysautonomia

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24
Q

What is the criteria for an ideal screening test/program?

A
  1. Disorder is clinically severe
  2. High frequency of carriers in the screened population
  3. Availability of a reliable test with a high specificity and sensitivity
  4. Availability of prenatal diagnosis
  5. Access to genetic counseling
25
Q

What are birth defects that are more commonly seen/may warrant involvement of a genetic counselor?

A

cystic hygroma, duodenal atresia, omphalocele, multicystic kidney, hydrocephalus

26
Q

How are most birth defects inherited?

A

Multifactorial inheritance, some may be associated with certain genetic conditions

27
Q

What are some diagnostic options for pregnancy and when can they be performed?

A

CVS - 10-13 weeks
Amniocentesis - 15+ weeks

28
Q

What are some risks that come along with an invasive test?

A

Risks of CVS: pregnancy loss (1/300), bleeding (higher risk in transcervical vs transabdominal - 32%); culture failure, amniotic fluid leakage, or infection <0.5%; limb-reduction defects 6:10,000
Risks of amnio: pregnancy loss (1/500); transient vaginal spotting or amniotic fluid leakage (1-2%); needle injury to fetus (rare); amniotic fluid cell culture failure (0.1%)

29
Q

What are the advantages and limitations of CVS?

A

Advantages: can be performed earlier in pregnancy than amnio, viable cells from procedure allow for shorter specimen processing time, earlier results/diagnosis can allow for earlier decision making/managing
Limitations: longer learning curve for trainees, risk for confined placental mosaicism - may need follow-up testing

30
Q

What are the advantages and limitations of amnio?

A

advantages: no risk for confined placental mosaicism if passage through placenta is avoided, sample can also be used for AFP testing and TORCH testing
Limitations: early amnio not recommended, patients advised to wait until 15-16 weeks until procedure and even longer for results, risk of maternal cell contamination

31
Q

When is the appropriate gestational window for elective abortions?

A

Up to 21 weeks

32
Q

What is cfDNA screening/NIPT?

A

Blood screen that looks at the ratio of naturally occurring fetal DNA present in the mother’s blood to look for common aneuploidies (13, 18, 21, sex chromosomes)

33
Q

When and who should cfDNA screening be offered to?

A

any woman can be offered it past 10 weeks gestational, but its recommended for high risk pregnancies (AMA and isolated soft ultrasound markers)

34
Q

Limitations of NIPT/cfDNA

A

only validated for common aneuploidies, non diagnostic, limited validation for twin+ pregnancies, possible false positives due to placental mosaicism, demise of co-twin, maternal karyo abnormalities, maternal neoplasm, maternal obesity, and organ transplants. Does not test for neural tube defects.

35
Q

Conditions on NBS should be

A

well defined, accurate screening and diagnostic test available, early intervention or treatment available, results are actionable

36
Q

When is NBS conducted

A

automatically after birth at a hospital or home birth. Personal exemption form has to be filled out if parents dont want it.

37
Q

Is NBS screening or diagnostic?

A

screening

38
Q

What is the turn around time for NBS?

A

Collection within 24 to 48 hrs of birth, abnormal results callout within a few days of collection

39
Q

Sensitivity/specificity of NBS

A

false positive rate low, PPV high

40
Q

Limitations of NBS

A

barriers to intervention, non-diagnostic

41
Q

How many conditions on Oklahoma NBS

A

58

42
Q

According to ACOG, all women who are pregnant or thinking about getting pregnant should be offered carrier screening for -

A

cystic fibrosis, hemoglobinopathies, SMA

43
Q

Targeted carrier screening

A

testing for disorders based on family history and ethnicity

44
Q

Expanded carrier screening

A

multiple disorders screened in a single test, regardless of ethnicity. Carrier panels vary between companies, some test for more than 100 conditions.

45
Q

ACOG recommended basic carrier screen for all ethnicities include

A

cystic fibrosis, SMA, and fragile X

46
Q

ACOG recommended basic carrier screen for african americans includes

A

thalaessemia and sickle cell disease

47
Q

ACOG recommended basic carrier screen for southeast asian or mediterranean includes

A

thalassemia

48
Q

ACOG recommended basic carrier screen for french canadian/cajun/creole include

A

tay-sachs

49
Q

ACOG recommended basic carrier screen for jewish include

A

cystic fibrosis, tay-sachs, canavan, and familial dysautonomia

50
Q

What is a quad screen?

A

a blood test that looks for alpha-fetoprotein, unconjugated estriol, human chorionic gonadotropin, and inhibin-A. The screening test then looks for T21, T18, and neural tube defects

51
Q

High AFP assoc with

A

neural tube defect, wall anomaly, multiple fetuses, pregnancy is further along

52
Q

Low AFP associated with

A

down syndrome

53
Q

low unconjugated estriol assoc with

A

down syndrome

54
Q

High human chorionic gonadrotropin assoc with

A

down syndrome

55
Q

High inhibin-A assoc with

A

down syndrome

56
Q

When is a quad screen offered?

A

Can be combined with the first trimester screening test at the 9th-13th week blood draw, and the 11th-13th week ultrasound. can be done on its own during the 15-20th week of pregnancy.

57
Q

Turn around time for quad screen

A

4-5 days

58
Q

Limitations of quad screen

A

not diagnostic, screens only for common birth defects, 10-20% of defects are missed, false positive rate

Prenatal (4 decks)

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