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Boards > Prenatal > Flashcards

Prenatal Flashcards

1
Q

Tracheoesophageal Fistula

A
  • the most common anomaly of the lower respiratory tract
  • 1 in 3000-4500 live births
  • predominantly affects males
  • polyhydramnios commonly seen in pregnancy
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2
Q

VACTERL assocication

A 
Vertebral anomalies
Anal atresia
Cardiac defects
TEF
Renal anomalies
Limb defects
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3
Q

Congenital Diaphragmatic Hernia

A
  • 1 in 2000-5000 births
  • 80% left sided
  • 60-70% survival
  • abdominal contents can herniate causing pulmonary hypoplasia and hypertension
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4
Q

When do the intestines return to the abdomen in fetal development?

A

during the 10th week of development

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5
Q

Omphalocele

A
  • 1 in 5000 herniation of intestines
  • failure of intestines to return to the abdominal cavity
  • associated with increased risk for chromosome abnormalities and imprinting defects (BWS)
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6
Q

Gastroschisis

A
  • 1 in 10,000 births
  • more common in males and on right side of umbilicus
  • generally isolated
  • due to incomplete closure of the lateral folds during the 4th week of gestation
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7
Q

Pyloric stenosis

A
  • narrowing of the segment between the stomach and duodenum
  • causes projectile vomiting
  • 1 in 150 males, 1 in 750 females
  • RR is higher if the index case is a female
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8
Q

Duodenal atresia

A
  • causes polyhydramnios and “double bubble” sign on US

- 20-30% of affected infants have T21

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9
Q

Renal agenesis

A
  • unilateral more commonly (frequently L kidney), M>F
  • bilateral: 1 in 3,000-10,000
  • causes Potter sequence when bilteral
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10
Q

Potter sequence

A
  • Anuria
  • Oligohydramnios
  • Hypoplastic lungs
  • Characteristic facies
  • Renal failure
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11
Q

hypospadius

A
  • 3-5 in 1000

- rate has doubled; due to rise of environmental estrogens (?)

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12
Q

limb defects

A
  • 1 in 10,000 live births
  • often associated with other birth defects
  • 4-5wks of development is the most sensitive time
  • Meromelia: partial absence of limb
  • Amelia: complete absence of limb
  • Phocomelia: absent long bones, rudimentary hands and feet attached to the trunk
  • Micromelia: all segments are present but abnormally short
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13
Q

Polydactyly

A
  • extra digits

- often a dominant trait in families

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14
Q

Syndactyly

A
  • fusion of fingers/toes

- failure of mesenchyme to break down

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15
Q

Ectrodactyly

A
  • “lobster claw” deformity
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16
Q

Club foot

A
  • 1 in 1000
  • M>F
  • Can be unilateral or bilateral
17
Q

Arthrogryposis

A
  • stiff joints and abnormal muscle development

- decreased fetal movement

18
Q

Klippel-Feil syndrome

A
  • short neck, low hairline, restricted neck movement
  • reduced number of cervical vertebral bodies (normal is 7)
  • can be n
19
Q

Amniocentesis

A
  • after 15 weeks GA
  • allows for cytogenetic analyss, molecular genetic analysis (if the specific mutation is known), and biochemical analysis
  • Indicated for ONTD or AWD: increased AFAFP and presence of AChE
  • test for CMV, toxoplasmosis, etc.
  • results: rapid FISH in 24-48 hours, AFAFP in 2-3 days, full karyotype in 10-14 days
20
Q

Chorionic villus sampling

A
  • performed between ~10-13 weeks
  • transcervical (better for posterior placenta, higher chance of MCC) or transbdominal (better for anterior placentas)
  • cannot test for ONTDs
  • slightly higher risk than amnio
  • results: rapid FISH in 24-48 hours, full karyotype in 10-14 days
  • slightly less accurate than amnio due to chance for mosicism and MCC
21
Q

Mosaicism in CVS

A
  • occurs ~1% of the time
  • 90% of the time it represents confined placental mosaicism
  • 10% = fetal mosaicism
22
Q

Percutaneous Umbilical Blood Sampling (PUBS)

A
  • generally used after 18 weeks
  • best site of collection is at the placental cord insertion
  • indications: fetal infection, fetal anemia, thrombocytopenia, hemophilia, immune hydrops
  • higher risk of miscarriage than CVS and amnio
23
Q

1st trimester screening

A
  • US for NT measurement
  • Serum analytes: Beta HCG and PAPP-A
  • Accuracy for T21: 85%
24
Q

Low PAPP-A in FTS

A
  • considered <5th %ile
  • spontaneous fetal loss
  • low birth weight
  • preeclampsia, gestational hypertension
  • preterm birth
  • stillbirth, preterm premature rupture of membranes, placental abruption
25
Q

Quad Screen

A
  • evaluares risk of trisomies, NTDs and placental abnormalities
  • analytes: AFP, hCG, uE3, and Inhibin A
26
Q

Crown-rump length

A

Used for pregnancy dating in 1st trimester US

27
Q

2nd trimester US dating markers

A
  • femur length
  • biparietal diameter
  • abdominal circumference
  • cerebellum
28
Q

Indications for growth ultrasounds

A
  • risk of stillbirth/poor fetal growth: HTN, renal disease, obesity, hx poor fetal growth, small for dates, abnormal serum screening
  • suspected large baby: diabetes, larger for dates
29
Q

Miscarriage

A
  • loss <20 weeks GA
  • 1 in 6 clinical pregnancies end in miscarriage
  • 1 in 4 chemical pregnancies end in miscarriage
30
Q

Causes of miscarriage

A
  • ~50% chromosomal abnormalities: 30% trisomy (T16 most common in SABS), 20% monosomy X, 15% tirploidy
  • Single gene disorders: alpha thal, myotonic dystrophy, X-linked dominant
  • 5-15% immunologic factors: antiphospholopid syndrome
  • 15-60% endocrine abnormalities: PCOS, progesterone deficiency, thyroid abnormalities, diabetes
  • thrombophilias: Factor V leiden & Prothrombin
  • 10-15% anatomical abnormalities (i.e. spetate uterus, bicornate uterus)
  • environmental: chemicals, lifestyle, infections
31
Q

Recurrent pregnancy loss

A

definition: > 2 or 3 miscarriages, cause not determined for >50% of couples, up to 75% of couple with RPL will have a successful next pregnancy

evaluations:

  • parental karyotypes
  • karyotype on POC when possible
  • immunological work-up: antiphospholipid syndrome
  • endocrine abnormalities: PCOS, progesterone deficiency, thyroid function, diabetes
  • thrombophilia work-up: Factor V and prothrombin
  • screening for uterine abnromalities
32
Q

hemoglobin A1C

A

levels of HbA1C tells how well glucose has been regulated during critical period in pregnancy

33
Q

IUFD/Stillbirth

A
  • defined as >20 weeks GA in MA
  • 86% occur pre-labor, 14% during L&D
  • Cause determined in 50% of cases
  • 6.5/1000 pregnancies in the US

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