Final Flashcards

1
Q

gestational age

A

time elapsed from the first day of the last menstrual period (LMP).

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2
Q

ultrasound can best determine gestational age when?

A

early

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3
Q

full term delivery

A

37-42 weeks GA

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4
Q

due date calculated as

A

40 weeks GA

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5
Q

Gravidity

A

the number of times a woman has been pregnant, regardless of gestational age or the number of fetuses.

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6
Q

Parity

A

the number of pregnancies a woman has delivered at more than 20 weeks gestation (includes live-born or stillbirths; a multiple gestation delivery counts as 1).

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7
Q

Abortion

A

premature expulsion of the products of conception from the uterus before 20 weeks of gestation. This can be a spontaneous abortion (also known as miscarriage) or an elective (medical or surgical) abortion.

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8
Q

TPAL

A

total number of term deliveries (T), followed by the number of premature deliveries (P), the number of abortions (or miscarriages) before 20 weeks’ gestation (A), and the number of children living at present (L).

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9
Q

risks of obesity in pregnancy

A

gestational diabetes, macrosomia (high birth weight infant), hypertensive disorders, prolonged labor, and cesarean delivery. C-sections are higher risk in obese women.

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10
Q

advised weight gain for average weight patients

A

25-35 lbs

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11
Q

how common is first trimester bleeding?

A

common. 25% of pregnancies. should still be investigated fully

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12
Q

reasons for first trimester bleeding

A

SAB, implantation bleeding from normal pregnancy, ectopic pregnancy, molar pregnancy, bleeding from other site

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13
Q

ectopic pregnancies and beta hCG

A

in normal pregnancies beta hCG doubles every 58 hours. This is impaired in ectopic pregnancies

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14
Q

concern of ectopic pregnancies

A

rupture into peritoneal cavity. surgical emergency

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15
Q

what testing is available at 11-14 weeks?

A

NT, PAPP-A, beta hCG

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16
Q

what testing is available at 15-20 weeks?

A

Quad screen (inhibin-A, MSAFP, beta-hCG, estriol)- provides risk for Down syndrome, trisomy 18, neural tube defects (anencephaly and spina bifida), abdominal wall defects (gastroschisis and omphalocele), Smith-Lemli-Opitz syndrome (SLOS)*

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17
Q

what testing is available at 18-22 weeks?

A

Screening ultrasound to assess placental location, amniotic fluid, fetal anatomy and growth

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18
Q

most common cause of neonatal fatality?

A

preterm birth

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19
Q

definition of labor

A

onset of regular uterine contractions with progressive effacement PLUS dilation of the cervix

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20
Q

known causes of preterm labor

A

Infection
Preeclampsia
Substance abuse
Rupture of fetal membranes

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21
Q

tocolytics

A

suppress premature labor

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22
Q

most common medical problem during pregnancy

A

hypertension (2-3% of pregnancies)

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23
Q

hypertension definition

A

140/90

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24
Q

Preeclampsia definition

A

blood pressure at or > 140/90 plus one of the following: proteinuria, Abnormal blood tests, Neurologic signs/symptoms, Pulmonary edema

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25
Q

cause of preeclampsia

A

multisystem disease specific to pregnancy and the postpartum period. It is thought to be a disease arising from abnormal placentation. Delivery of the placenta is the only definitive cure.

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26
Q

Most common genetic cause of DD?

A

Down syndrome

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27
Q

Most common inherited cause of DD?

A

Fragile X

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28
Q

% of recognized pregnancies that miscarry?

A

about 20%

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29
Q

general criteria for carrier screening diseases

A

No treatment/cure, significant in childhood or early adulthood

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30
Q

CVS timeframe

A

10-13+ w

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31
Q

CVS miscarriage risk

A

1/500-1/1000

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32
Q

Amnio timeframe

A

15-20 w

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33
Q

amnio miscarriage risk

A

1/500-1/1000

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34
Q

blood tests after CVS and amnio

A

After CVS still need MSAFP at 16-18 w. Nothing more needed for amnio

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35
Q

serum markers for T21

A

High HGC and INH, low everything else

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36
Q

serum markers for SLO

A

low uE3 (but also could be some mild conditions, or fetal demise)

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37
Q

serum markers T18

A

low everything

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38
Q

High AFP

A

neural tube defect or abdominal wall defect

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39
Q

sequential integrated screening includes

A

first trimester UT and blood draw, second semester blood draw

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40
Q

serum integrated screening includes

A

two blood draws

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41
Q

quad screen includes

A

second semester blood draw only

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42
Q

NT cutoff

A

3 mm

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43
Q

NT timeframe

A

11w2d-14w2d

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44
Q

what does first trimester blood draw test?

A

PAPP-A, hCG

45
Q

what does second trimester blood draw test?

A

AFP, hCG, uE3, INH

46
Q

what effect does diabetes have on serum markers?

A

Makes everything a little lower, especially AFP

47
Q

what conditions can US diagnose?

A

heart defects, abdominal wall

48
Q

most common skeletal dysplasia seen on US

A

Thanatophoric Dysplasia


49
Q

general pop risk of birth defects

A

2-3%

50
Q

SPIKES

A

Setting, perception, invitation, knowledge, empathy, summary

51
Q

TOF most associated which what syndrome?

A

22q (also Down, but less so)

52
Q

AVSD most associated with what syndrome?

A

Down (60% of CHDs)

53
Q

second most common type of birth defect

A

NTDs

54
Q

causes of NTDs

A

multifactorial, aneuploidies, single genes

55
Q

causes of CHDs

A

most do not have risk factor. Maternal exposures, mendelian syndromes, aneuploidies,

56
Q

soft sign definition

A

normal variants or findings that may be associated with an increased risk for fetal aneuploidy

57
Q

purpose of first trimester US

A

dating, NT, viability (cardiac activity), ectopic, number of fetuses, chorionicity

58
Q

purpose of second trimester US

A

viability (cardiac activity), standard measurements, amniotic fluid, dx abnormalities of umbilical cord, placenta, or cervix, id soft markers

59
Q

cystic hygroma

A

occurs when the nuchal translucency space extends along the entire length of the fetus

60
Q

first trimester soft markers

A

NT, cystic hygroma, absent nasal bone

61
Q

second trimester soft markers

A

short long bones, increased nuchal fold, dilated renal pelvis, echogenic bowel, intracardiac echogenic focus, Choroid Plexus Cysts, single umbilical artery, mild ventriculomegaly, polyhydramnios, oligohydramnios,

62
Q

NT is risk factor for

A

aneuploidy and heart defects

63
Q

cystic hygroma is risk factor for

A

aneuploidy (esp. Turner), cardiac anomalies, skeletal dysplasias

64
Q

absent nasal bone is risk factor for

A

trisomies

65
Q

echogenic bowel is risk factor for

A

CF, aneuploidies, infection, IUGR, intestinal blockage, demise

66
Q

IEF is risk factor for

A

T21 (not heart defects)

67
Q

CPC is risk factor for

A

T18

68
Q

purpose of progesterone

A

maintain endometrial lining, relaxation of smooth muscle

69
Q

Low MCV might be

A

iron deficiency or thalassemia trait

70
Q

Neural tube closes by X days after conception

A

28 days after conception / 6 w gestational age

71
Q

If you see cystic hygroma, consider:

A

Aneuploidy, esp. Turner, heart defect, Noonan, skeletal dysplasia, triploidy, infection

72
Q

If you see echogenic bowel, consider:

A

Aneuploidy, CF, infection, blockage, IUGR, demise, swallowed blood

73
Q

If you see polyhydramnios, consider:

A

GI/GU/CNS defects, placental abnormalities, maternal DM, infection, Rh disease, twin-twin transfusion

74
Q

If you see oligohydramnios, consider:

A

GU defects, teratogens, maternal DM, premature rupture

75
Q

U/S of triploidy

A

Cardiac defects, syndactyly, CNS abnormalities, abnormal gestational sac

76
Q

Triploidy- digynic u/s

A

Asymmetric growth restriction, relative macrocephaly

77
Q

Triploidy- diandric u/s

A

Symmetrical growth restriction, enlarged and cystic placenta (hydatidiform mole). Note: pregnancy may be referred to as partial molar pregnancy, associated with preeclampsia and persistent trophoblastic disease.

78
Q

Beckwith-Wiedmann u/s

A

Omphalocele, enlarged kidneys, macrosomia, macroglossia

79
Q

Cornelia de Lange u/s

A

Severe growth restriction, upper limb defects, diaphragmatic hernia

80
Q

OI Type II u/s

A

Rib “beading” (fractures), increased brain visualization d/t minimal calvarial (top of skull) mineralization

81
Q

SLO u/s

A

Growth restriction, cardiac defects, underdeveloped genitalia in males, postaxial polydactyly, syndactyly

82
Q

Heart defect recurrence risk

A

Sib: 2-3%
Father: 2-3%
Mother: 5-6%

83
Q

club foot recurrence risk

A

Sib (male index): 2%
Sib (female index): 5%
Parent: up to 25%

84
Q

Sex ratio

Dilated renal pelvis / pyelectasis / pelviectasis / hydronephrosis

A

M>F

85
Q

Mild ventriculomegaly

sex ratio

A

M>F

86
Q

Anencephaly sex ratio

A

F>M

87
Q

Diaphragmatic hernia

position ratio

A

L>R

88
Q

Gastroschisis ratios

A

R>L, M>F

89
Q

Club foot

sex ratio

A

M>F

90
Q

Cleft Lip +/- palate

sex ratio

A

M>F

91
Q

Cleft Palate only

sex ratio

A

F>M

92
Q

Most common sex chromosome aneuploidy at birth

A

Klinefelter

93
Q

Approximate T21 risk by maternal age (live birth)

A

20y: 1/1500
30y: 1/1000
35y: 1/350
40y: 1/100

94
Q

AJ diseases with a carrier rate ~1/30

A

Tay-Sachs, Canavan, CF, Familial Dysautonomia

95
Q

general carrier frequency of SMA

A

1/50

96
Q

White CF carrier frequency

A

1/25

97
Q

african american sickle cell frequency

A

1/10

98
Q

persistent trophoblastic disease

A

In most molar pregnancies, any remaining abnormal tissue in the womb usually dies off. But in a small proportion of women, the tissue can remain and grow further into the lining of the womb and, like a cancer, spread to other areas of the body. Usually treated with chemo.

99
Q

Choriocarcinoma

A

Choriocarcinoma is a very rare type of cancer that occurs in around 1 in 50,000 pregnancies. It can develop if the cells left behind after a pregnancy become cancerous. This can happen after any pregnancy, but it’s more likely after molar pregnancies. Usually treated with chemo.

100
Q

With recurrent miscarraige, translocation ID’d X% of time

A

1-5%

101
Q

Rubella

A

rare. Cataracts, cardiac defects, deafness, encephalitis, IUGR, hepatosplenomegaly, ID, blueberry muffin lesions

102
Q

Cytomegalovirus

A

common. Severity depends on timing.
First trimester: often miscarriage
Later: IUGR, blindness, deafness (SNHL), microcephaly, ID, cerebral palsy, seizures, hepatosplenomegaly

103
Q

Herpes

A

Early in pregnancy -> increased SAB
Infection usually around birth
Lesions, multi-organ disease, lethargy, encephalitis

104
Q

Varicella (chickenpox)

A

Before 20w: Muscle atrophy, eye and brain damage, ID, limb anomalies, growth restriction

105
Q

Toxoplasmosis

A

Brain damage (calcification), eye damage (chorioretinitis), hydrocephaly, microcephaly, hepatosplenomegaly, hearing loss, ID, rash

106
Q

Syphilis

A

Most dangerous if acquired during pregnancy (rather than before)
Demise, hydrops, hepatomegaly, deafness, abnormal teeth and bones, hydrocephalus, ID, craniofacial defects, ulcers

107
Q

Maternal DM

A

Hyperglycemia affects organogenesis. Macrosomia, sacral agenesis, NTDs, heart defects, brain anomalies, skeletal defects, respiratory distress as newborn

108
Q

organogenesis time frame

A

5-10 weeks gestational age (3-8 weeks embryonic age)