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Core > Reproductive: Congenital Fetal > Flashcards

Reproductive: Congenital Fetal Flashcards

1
Q

What are the most common congenital heart diseases associated with Down syndrome?

A
  • AV canal defect
  • Ventricular septal defect
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2
Q

What is the most common intraabdominal pathology associated with Down syndrome?

A

Duodenal atresia

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3
Q

Fetal ultrasound findings suspicious for Down syndrome

A
  • Congenital heart disease
  • Duodenal atresia
  • Short femur length
  • Echogenic bowel
  • Choroid plexus cyst
  • Nuchal translucency
  • Nuchal fold thickening
  • Echogenic focus in cardiac ventricle
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4
Q

What percentage of fetuses with Down syndrome will have congenital heart issues?

A

More than half

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5
Q

Which trisomy is most often associated with a choroid plexus cyst?

A

Trisomy 18

Note: Also seen in trisomy 21 (Down syndrome).

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6
Q

When is nuchal translucency measures?

A

First trimester (between weeks 9 and 12)

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7
Q

What is a normal nuchal translucency thickness?

A

3 mm or less (in the first trimester)

Note: If > 3 mm, think Downs syndrome.

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8
Q

What is being measured (**)?

A

Nuchal fold thickness

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9
Q

What is being measured?

A

Nuchal translucency (the anechoic area between the neck/occiput and the skin)

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10
Q

What is a normal nuchal fold thickness?

A

6 mm or less

Note: If > 6 mm, think Down syndrome or Turners.

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11
Q

How should the fetal head be positioned while measuring nuchal translucency?

A

In neutral position (nasal bone should be visualized with the head in the mid-sagittal position)

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12
Q

What maternal blood tests are run to screen for Down syndrome?

A
  • Free beta-hCG
  • PAPP-A (pregnancy associated plasma protein-A)
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13
Q

No other anatomic abnormalities

A

Think amniotic band syndrome (limb/finger amputation due to constriction from amniotic bands)

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14
Q
A

Think amniotic band syndrome

Note: Linear echogenicities entangling the fetus.

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15
Q

Missing fingers in an otherwise normal neonate…

A

Think amniotic band syndrome

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16
Q

Hydrops fetalis

A

A bad condition where there is fetal edema due to accumulation of fluid in the fetal tissues/organs

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17
Q

Common causes of hydros fetalis

A
  • Rh sensitization from a prior pregnancy
  • TORCH infections
  • Turners
  • Twin gestation
  • Alpha thalassemia
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18
Q

Ultrasound diagnosis of hydrops fetalis

A

Two of the following:

  • Pleural effusion
  • Ascites
  • Pericardial effusion
  • Subcutaneous edema
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19
Q
A

Hydrops fetalis

Note: Pleural effusions and ascites.

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20
Q

Fetal ultrasound

A

Hydrops fetalis

Note: Pericardial (A) and pleural (B) effusions.

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21
Q
A

Hydrops fetalis

Note: Thickened placenta (C) and scalp edema (D).

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22
Q

Chiari II malformation

A

Caudal herniation of the cerebellar vermis, brainstem, and 4th ventricle due to low CSF pressure (CSF leaking out an open neural tube defect)

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23
Q
A

Think Chiari II malformation

Note: This is the “lemon head” appearance due to flattening of the bilateral frontal bones in the setting of insufficient CSF pressure to create the normal curvature. Once the brain grows large enough to push the frontal bones out during the third trimester, this appearance goes away and the skull appears normal.

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24
Q
A

Banana-shaped cerebellum, suggestive of a Chiari II malformation

Note: Left image shows banana cerebellum and right image shows normal bilobed cerebellum.

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25
Q

When are the banana and lemon signs visible on fetal ultrasound?

A

Lemon sign is only present during the second trimester (in the third trimester the brain grows large enough to push out the frontal bones and restore normal skull curvature)

The banana sign is present during the second and third trimesters

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26
Q

Which sign is more sensitive and specific for Chiari II malformations: lemon or banana?

A

Banana sign (appearance of cerebellar fusion) is more sensitive and specific

Note: On the test, the lemon sign will almost always indicate Chiari II, but in real like it can also be seen with Dandy-Walker, Absent corpus callous, ecephaloceles, etc.

27
Q

What is the most common cause of non-communicating hydrocephalus in a neonate?

A

Aqueductal stenosis

28
Q

Common causes of ventriculomegaly in a fetus/neonate

A
  • Hydrocephalus (communicating and non-communicating)
  • Cerebral atrophy
29
Q

What is being measured by the double headed arrow?

A

Ventricular atrium diameter

30
Q

What is a normal ventricular atrium diameter in a fetus?

A

10 mm or less

Note: Greater than 10 mm indicated ventriculomegaly.

31
Q
A

“Dangling choroid plexus” which suggests ventriculomegaly if greater than 3 mm

32
Q
A

Choroid plexus cyst

33
Q

Choroid plexus cysts are associated with…

A
  • Trisomy 18
  • Trisomy 21
  • Turner’s syndrome
  • Klinefelter syndrome

Note: If isolated, this usually doesn’t mean anything, but you should look hard for other defects.

34
Q

What is the most common fetal facial anomaly?

A

Facial clefts (e.g. cleft lip/palate)

35
Q

Around 80% of pts with cleft lips have ______

A

Cerebral palsy

36
Q

Facial clefts are associated with ______ approximately 30% of the time

A

Chromosomal anomalies

37
Q
A

Cleft lip

38
Q

Fetal ultrasound

A

Cleft palate

39
Q
A

Cystic hygroma

Note: Complex cystic mass in the posterior neck.

40
Q

Cystic hygromas are associated with…

A
  • Turner’s syndrome
  • Down syndrome
41
Q
A

Cystic hygroma

Note: Complex cystic mass in the posterior neck.

42
Q

What is the most common neural tube defect?

A

Anencephaly (total absence of the cranial vault and brain above the level of the orbits)

43
Q
A

Anencephaly

44
Q
A

Anencephaly

Note: Absence of cranium (arrow).

45
Q

Congenital diaphragmatic hernias almost always occur on the…

A

Left (85%)

Note: The liver is protective on the right.

46
Q
A

Congenital diaphragmatic hernia on the left

47
Q
A

Congenital diaphragmatic hernia on the left

48
Q
A

Congenital diaphragmatic hernia on the left

49
Q

Why is congenital diaphragmatic hernia associated with a high mortality?

A

Pulmonary hypoplasia (due to compression of the lungs by the hernia)

50
Q

Congenital diaphragmatic hernias are always associated with…

A

Intestinal malrotation

51
Q

Fetal ultrasound

A

Echogenic intracaardiac focus (usually a calcified papillary muscle)

Note: This occurs in the normal general population (5%), but occurs more commonly in Down syndrome (12%) and trisomy 13 (so you should look closely for other abnormalities).

52
Q

Fetal tachycardia

A

Heart rate > 180 bpm

53
Q

Fetal bradycardia

A

Heart rate < 100 bpm

54
Q
A

Think duodenal atresia

Note: This is the “double bubble sign” where the stomach and duodenum are distended.

55
Q

How can you tell whether bowel is echogenic on fetal ultrasound?

A

Normal bowel should be isoechoic to liver, but echogenic bowel will be isoechoic to the iliac crest bone

56
Q

Echogenic bowel is associated with…

A
  • Cystic fibrosis
  • Down syndrome (and other trisomies)
  • Viral infections
  • Bowel atresia
57
Q

What is the most common tumor of the fetus/infant?

A

Sacrococcygeal teratoma

58
Q
A

Think sacrococcygeal teratoma (most common tumor in the fetus)

59
Q

What are the most common locations for a sacrococcygeal teratoma?

A
  • External to pelvis (47%)
  • Dumbell shaped with components both internal and external to pelvis (34%)
  • Internal to pelvis (9%)
60
Q

Are sacrococcygeal teratomas usually benign or malignant?

A

Benign (80%)

Note: Those presenting in older infants tend to have a higher malignant potential.

61
Q

Complications of a sacrococcygeal teratoma

A
  • Mass effect (GI issues, hip dislocation, incontinence due to nerve compression)
  • High output cardiac failure
  • Premature delivery
  • Shoulder dystocia
  • Tumor hemorrhage
62
Q
A

Think autosomal recessive polycystic kidney disease

Note: Massively enlarged bilateral kidneys with oligohydramnios.

63
Q

Fetal ultrasound

A

Think posterior urethral valve

Note: Distended bladder with appearance of diverticulum (distended proximal urethra). Look for bilateral hydronephrosis.

64
Q

Measurement is below the 5th percentile

A

Short femur, suggestive of skeletal dysplasia (also seen in Down syndrome)

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