Final Flashcards
gestational age
time elapsed from the first day of the last menstrual period (LMP).
ultrasound can best determine gestational age when?
early
full term delivery
37-42 weeks GA
due date calculated as
40 weeks GA
Gravidity
the number of times a woman has been pregnant, regardless of gestational age or the number of fetuses.
Parity
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).
Abortion
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.
TPAL
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).
risks of obesity in pregnancy
gestational diabetes, macrosomia (high birth weight infant), hypertensive disorders, prolonged labor, and cesarean delivery. C-sections are higher risk in obese women.
advised weight gain for average weight patients
25-35 lbs
how common is first trimester bleeding?
common. 25% of pregnancies. should still be investigated fully
reasons for first trimester bleeding
SAB, implantation bleeding from normal pregnancy, ectopic pregnancy, molar pregnancy, bleeding from other site
ectopic pregnancies and beta hCG
in normal pregnancies beta hCG doubles every 58 hours. This is impaired in ectopic pregnancies
concern of ectopic pregnancies
rupture into peritoneal cavity. surgical emergency
what testing is available at 11-14 weeks?
NT, PAPP-A, beta hCG
what testing is available at 15-20 weeks?
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)*
what testing is available at 18-22 weeks?
Screening ultrasound to assess placental location, amniotic fluid, fetal anatomy and growth
most common cause of neonatal fatality?
preterm birth
definition of labor
onset of regular uterine contractions with progressive effacement PLUS dilation of the cervix
known causes of preterm labor
Infection
Preeclampsia
Substance abuse
Rupture of fetal membranes
tocolytics
suppress premature labor
most common medical problem during pregnancy
hypertension (2-3% of pregnancies)
hypertension definition
140/90
Preeclampsia definition
blood pressure at or > 140/90 plus one of the following: proteinuria, Abnormal blood tests, Neurologic signs/symptoms, Pulmonary edema
cause of preeclampsia
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.
Most common genetic cause of DD?
Down syndrome
Most common inherited cause of DD?
Fragile X
% of recognized pregnancies that miscarry?
about 20%
general criteria for carrier screening diseases
No treatment/cure, significant in childhood or early adulthood
CVS timeframe
10-13+ w
CVS miscarriage risk
1/500-1/1000
Amnio timeframe
15-20 w
amnio miscarriage risk
1/500-1/1000
blood tests after CVS and amnio
After CVS still need MSAFP at 16-18 w. Nothing more needed for amnio
serum markers for T21
High HGC and INH, low everything else
serum markers for SLO
low uE3 (but also could be some mild conditions, or fetal demise)
serum markers T18
low everything
High AFP
neural tube defect or abdominal wall defect
sequential integrated screening includes
first trimester UT and blood draw, second semester blood draw
serum integrated screening includes
two blood draws
quad screen includes
second semester blood draw only
NT cutoff
3 mm
NT timeframe
11w2d-14w2d
what does first trimester blood draw test?
PAPP-A, hCG
what does second trimester blood draw test?
AFP, hCG, uE3, INH
what effect does diabetes have on serum markers?
Makes everything a little lower, especially AFP
what conditions can US diagnose?
heart defects, abdominal wall
most common skeletal dysplasia seen on US
Thanatophoric Dysplasia
general pop risk of birth defects
2-3%
SPIKES
Setting, perception, invitation, knowledge, empathy, summary
TOF most associated which what syndrome?
22q (also Down, but less so)
AVSD most associated with what syndrome?
Down (60% of CHDs)
second most common type of birth defect
NTDs
causes of NTDs
multifactorial, aneuploidies, single genes
causes of CHDs
most do not have risk factor. Maternal exposures, mendelian syndromes, aneuploidies,
soft sign definition
normal variants or findings that may be associated with an increased risk for fetal aneuploidy
purpose of first trimester US
dating, NT, viability (cardiac activity), ectopic, number of fetuses, chorionicity
purpose of second trimester US
viability (cardiac activity), standard measurements, amniotic fluid, dx abnormalities of umbilical cord, placenta, or cervix, id soft markers
cystic hygroma
occurs when the nuchal translucency space extends along the entire length of the fetus
first trimester soft markers
NT, cystic hygroma, absent nasal bone
second trimester soft markers
short long bones, increased nuchal fold, dilated renal pelvis, echogenic bowel, intracardiac echogenic focus, Choroid Plexus Cysts, single umbilical artery, mild ventriculomegaly, polyhydramnios, oligohydramnios,
NT is risk factor for
aneuploidy and heart defects
cystic hygroma is risk factor for
aneuploidy (esp. Turner), cardiac anomalies, skeletal dysplasias
absent nasal bone is risk factor for
trisomies
echogenic bowel is risk factor for
CF, aneuploidies, infection, IUGR, intestinal blockage, demise
IEF is risk factor for
T21 (not heart defects)
CPC is risk factor for
T18
purpose of progesterone
maintain endometrial lining, relaxation of smooth muscle
Low MCV might be
iron deficiency or thalassemia trait
Neural tube closes by X days after conception
28 days after conception / 6 w gestational age
If you see cystic hygroma, consider:
Aneuploidy, esp. Turner, heart defect, Noonan, skeletal dysplasia, triploidy, infection
If you see echogenic bowel, consider:
Aneuploidy, CF, infection, blockage, IUGR, demise, swallowed blood
If you see polyhydramnios, consider:
GI/GU/CNS defects, placental abnormalities, maternal DM, infection, Rh disease, twin-twin transfusion
If you see oligohydramnios, consider:
GU defects, teratogens, maternal DM, premature rupture
U/S of triploidy
Cardiac defects, syndactyly, CNS abnormalities, abnormal gestational sac
Triploidy- digynic u/s
Asymmetric growth restriction, relative macrocephaly
Triploidy- diandric u/s
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.
Beckwith-Wiedmann u/s
Omphalocele, enlarged kidneys, macrosomia, macroglossia
Cornelia de Lange u/s
Severe growth restriction, upper limb defects, diaphragmatic hernia
OI Type II u/s
Rib “beading” (fractures), increased brain visualization d/t minimal calvarial (top of skull) mineralization
SLO u/s
Growth restriction, cardiac defects, underdeveloped genitalia in males, postaxial polydactyly, syndactyly
Heart defect recurrence risk
Sib: 2-3%
Father: 2-3%
Mother: 5-6%
club foot recurrence risk
Sib (male index): 2%
Sib (female index): 5%
Parent: up to 25%
Sex ratio
Dilated renal pelvis / pyelectasis / pelviectasis / hydronephrosis
M>F
Mild ventriculomegaly
sex ratio
M>F
Anencephaly sex ratio
F>M
Diaphragmatic hernia
position ratio
L>R
Gastroschisis ratios
R>L, M>F
Club foot
sex ratio
M>F
Cleft Lip +/- palate
sex ratio
M>F
Cleft Palate only
sex ratio
F>M
Most common sex chromosome aneuploidy at birth
Klinefelter
Approximate T21 risk by maternal age (live birth)
20y: 1/1500
30y: 1/1000
35y: 1/350
40y: 1/100
AJ diseases with a carrier rate ~1/30
Tay-Sachs, Canavan, CF, Familial Dysautonomia
general carrier frequency of SMA
1/50
White CF carrier frequency
1/25
african american sickle cell frequency
1/10
persistent trophoblastic disease
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.
Choriocarcinoma
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.
With recurrent miscarraige, translocation ID’d X% of time
1-5%
Rubella
rare. Cataracts, cardiac defects, deafness, encephalitis, IUGR, hepatosplenomegaly, ID, blueberry muffin lesions
Cytomegalovirus
common. Severity depends on timing.
First trimester: often miscarriage
Later: IUGR, blindness, deafness (SNHL), microcephaly, ID, cerebral palsy, seizures, hepatosplenomegaly
Herpes
Early in pregnancy -> increased SAB
Infection usually around birth
Lesions, multi-organ disease, lethargy, encephalitis
Varicella (chickenpox)
Before 20w: Muscle atrophy, eye and brain damage, ID, limb anomalies, growth restriction
Toxoplasmosis
Brain damage (calcification), eye damage (chorioretinitis), hydrocephaly, microcephaly, hepatosplenomegaly, hearing loss, ID, rash
Syphilis
Most dangerous if acquired during pregnancy (rather than before)
Demise, hydrops, hepatomegaly, deafness, abnormal teeth and bones, hydrocephalus, ID, craniofacial defects, ulcers
Maternal DM
Hyperglycemia affects organogenesis. Macrosomia, sacral agenesis, NTDs, heart defects, brain anomalies, skeletal defects, respiratory distress as newborn
organogenesis time frame
5-10 weeks gestational age (3-8 weeks embryonic age)
