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Flashcards in Fetal Syndromes Deck (20):
1

Rare condition and it's etiology is unknown. One theory says it is caused by disruption of the amnion early in pregnancy, the results and bands of tissue which trap and constrict portions of the fetal body. The severity of the defects in the fetus is related to the age at injury. The early the bands form, the more severe the fetal defects.

Amniotic Band Syndrome

2

The most severe condition on the spectrum of amniotic band syndrome is called.

Limb-body wall complex or LBWC

3

What are the multiple severe abnormalities of amniotic band syndrome?

1. Craniofacial defects - such as asymmetric encephalocele, asymmetric facial clefts and severe facial dysmorphism
2. Limb defects - include extremity amputations and clubfeet
3. Visceral defects - include abdominal wall defects and ectopia cordis (heart outside of chest.

4

What are the sonofindings in amniotic band syndrome?

Echogenic bands attached to the fetus, like strings on a puppet. You will also see fetal anomalies and postural deformities.

5

An amniotic sheets is also called a what and is the result from the amnion covering a uterine scar? This will not attach to the fetus and there are no associated anomalies with it.

amnionic pillar

6

A chromosomal abnormality that occurs 1 in 6000 live births. Associated with characteristic facies, psychomotor retardation, and multiple anatomic abnormalities. Very poor prognosis. Approximately 85% die within the first year of life.

Trisomy 13 / Patau's syndrome

7

What are the features of Trisomy 13 / Patau's syndrome?

1. Holoprosencephaly KEY
2. Cleft lip and plate
3. IUGR
4. Polydactyly
5. Single umbilical artery / 2 vessel cord
6. OMPHALOCELE
7. cystic renal dysplasia
8. ventricular spetal defect
9. agenesis of the corpus callosum
10. truncus arteriosus

8

Occurs 1 in 3000 live births. Stillbirth is common, with a lifespan of 5 days. These fetuses have profound psychomotor retardation, growth deficiency.

Trisomy 18 / Edwards syndrome

9

What are the features of Trisomy 18 / Edwards syndrome?

1. Flexion of the hand with overlapping fingers-results in a Simeon crease later.
2. IUGR
3. Polyhydraminos
4. ASD's and VSDs
5. Single umbilical artery / 2 vessel cord
6. Micrognathia
7. Choroid plexus cyst, large and multiple
8. Strawberry shaped cranium
9. Rocker bottom feet

10

Chromosomal abnormality which is characterized by mental retardation and characteristic facial and physical appearance. Occurs 1 in 710 live births.

Trisomy 21 / down syndrome

11

What syndrome is associated with a nuchal fold measurement of greater than 6 mm in the under 24 week fetus?

Trisomy 21 / down syndrome

12

What are the sonofindings of Trisomy 21 / downs syndrome?

1. Cystic hygroma / nuchal fold thickening
2. Noimmune hydrops, pleural effusions
3. Cardiac defects with ASD and VSD as well as endocardial cushion defect
3. duodenal atresia
4. small or absent nasal bones
5. clinidactyly and hypoplastic middle phalanx of the fifth digit of the hand
6. hyperechoic bowel
7. echogenic intracardiac focus

13

Chromosomal syndrome attributed to complete or partial absence of an X chromosome. Occurs in 1 in 2500 - 1 in 5000 live female births. Prognosis depends on extent of the cardiac and renal abnormalities.

Turner syndrome/ 45 XO/ monosomy

14

What are the ultrasound findings of turner syndrome?

1. Cystic hygroma
2. lymphedema
3. lymphangiectasis
4. Nonimmune hydrops
5. cardiovascular malformations
6. horseshoe kidney and renal agenesis
Postnatally these girls have hypoplastic or aplastic uterus and streak like ovaries. These girls will be infertile because ovaries don't function normal.

15

Group of disorders having in common the coexistence of an OMPHALOCELE, macroglossia, and visceromegally. These neonates have a very poor prognosis as a result of metabolic complications like hypoglycemia. suffocations is likely because of the macroglossia. They are intubated at birth.

Beckwith-Weidmann Syndrome also called EMG syndrome, exopthalmos macroglossia and giantism

16

These neonates are also at risk to develop malignant tumors such as nephroblastoma's (Wilms Tumor) and adrenal tumors. If they survice early childhood, they do have a relatively normal intelligence.

Beckwith-Weidmann syndrome

17

Association of two major defects: omphalocele and ectopia cordis.

Pentalogy of Cantrell

18

These three other defects are also present involving structures which are located between the heart and the omphalocele.

the lower sternum, anterior diaphragm and pericardium

19

This is and autosomal recessive condition and includes the following: encephalocele, polycystic kidneys, polydactyly and cleft lip.

Meckel-Gruber syndrome

20

What does VATER association mean?

Vertebral anomalies
Anal Atresia
Cardiac anomalies
TE Tracheoespophageal fistulas
Renal and Radial ray anomalies
Limb deformities