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Fetal echo > CHD Overview, Incidence, Causes, Echo Indications > Flashcards

CHD Overview, Incidence, Causes, Echo Indications Flashcards

1
Q

What is the number one most common congenital disorder in newborns?

A

Congenital heart disease

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2
Q

What is the prevalence of congenital heart disease in LIVE BIRTHS?

A

Approximately 1%
(8 to 9 per 1000)

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3
Q

What percentage of congenital heart disease is an isolated anomaly

A

70%

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4
Q

What percentage of fetal congenital heart disease cases are associated with other anomalies?

A

30%

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5
Q

What is the prevalence of congenital heart disease in the FETUS? Why is this different than the prevalence in live births?

A

4-5% incidence in FETUSES, the difference being due to miscarriage, intrauterine, fetal demise, and terminations.

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6
Q

What is the #1 most common congenital, heart disease in live births, stillborns, and abortuses?

A

Ventricular septal defect (VSD)

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7
Q

What is the #1 most common congenital heart disease in the general population?

A

Bicuspid aortic valve

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8
Q

Why is the most common congenital heart defect different in the live births versus general populations? And what is the most common defect for each of these populations?

A

The most common congenital heart defect in the live births population is a VSD. The most common congenital heart defect in the general population overall is bicuspid aortic valve. The difference is because the majority of VSDs close on their own after birth.

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9
Q

VSDs represent what percentage of CHD at birth?

A

36%

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10
Q

What is the second most common congenital heart disease at birth? Percentage?

A

ASD (9.4%)

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11
Q

What are the three main categories of causes of CHD?

A

Genetics, environment, and chance

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12
Q

True or false? Most cases of CHD can be traced back to a single cause.

A

False. 70 to 80% are multi factorial.

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13
Q

What are the three cardiac anomalies most commonly associated with chromosomal abnormalities

A

Ventricular septal defect (VSD), atrio-ventricular septal defect (AVSD) and tetralogy of Fallot

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14
Q

Which congenital heart defects are least likely to be associated with a chromosomal abnormality

A

Dextro-transposition of the great arteries (D-TGA or complete transposition) and
Heterotaxy (atrial isomerism)

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15
Q

Which congenital heart defects are most likely to be associated with extra cardiac anomalies?

A

Tetralogy of Fallot, Coarctation, and pulmonary stenosis

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16
Q

What is the general term for an unexpected or abnormal arrangement of the internal organs?

A

Heterotaxy

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17
Q

What range of conditions does the term heterotaxy include?

A

Situs inversus totalis, left atrial isomerism (polysplenia) and right atrial isomerism (asplenia)

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18
Q

What is another name for dextro-transposition of the great arteries?

A

Complete transposition

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19
Q

Indications for fetal echo are divided into what two categories?

A

Maternal indications and fetal indications

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20
Q

Name five maternal indications for a fetal echo

A

Maternal auto immune disease (such as lupus or Sjogren’s syndrome)
Familial inherited disorders (example 22q11 deletion)
In vitro fertilization (IVF)
Maternal metabolic disease (eg diabetes, or phenylketonuria)
Maternal teratogen exposure (anticonvulsants, lithium, retinitis acids, NSAIDs etc)

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21
Q

Name eight fetal indications for a fetal echo

A

Abnormal ultrasound.
First-degree relative of a fetus with a CHD.
Abnormal heart rate or rhythm
Chromosome abnormality
Extracardiac anomaly
Hydrops.
Increased NT
Monochorionic twins.

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22
Q

True or false most cases of congenital heart disease are associated with a known risk factor

A

False. Most cases of CHD have no known risk factor.

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23
Q

True or false: advanced maternal age is currently a fetal echo indication

A

False. AMA is not currently an echo indication, unless a chromosome defect is found.

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24
Q

True or false: maternal BMI is currently an indication for a fetal echo

A

False. Recent AIUM statements say there is limited data. It is not currently an official indication for an echo.

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25
Q

What is the incidence of CHD in fetuses with increased nuchal translucency greater than or equal to 3.5 mm or above the 99th percentile for gestational age.

A

3% (chromosomally normal babies after amnio testing with isolated thick NT)

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26
Q

What heart defects are commonly noted with fetal hydrops

A

Cardiomyopathy and arrhythmias

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27
Q

What heart defects are most commonly associated with abnormal rates or rhythms?

A

AVSD, cc-TGA, Ebstein Anomaly

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28
Q

If complete heart block is noted in a fetus, what is mom subsequently tested for?

A

Auto immune diseases

29
Q

In cases of maternal auto immune disease, what congenital heart defects are most commonly noted

A

Complete heart block, and if mom has been treated with steroids, a constricted ductus arteriosus in late pregnancy

30
Q

Congenital heart disease is found in what percentage of IVF cases

A

3%

31
Q

What is the incidence of CHD in a fetus with one sibling affected by CHD

A

2-4%

32
Q

What is the risk of CHD in a fetus with two or more siblings affected by CHD

A

10%

33
Q

True or false, the incidence of CHD is the same, whether a fetus has one or multiple siblings affected by CHD

A

False. The risk goes from 2 to 4% for one affected sibling up to 10% for two or more affected siblings.

34
Q

What is the risk of CHD in a fetus if the mother of the fetus has a CHD?

A

10-12%

35
Q

What is the risk of CHD in a fetus if the father of the fetus has a CHD

A

1-3%

36
Q

True or false. The risk of CHD in a fetus is the same if its mother has a CHD as if it’s father has a CHD. The sex of the parent is not a factor.

A

False. The risk in a fetus if it’s mom has a CHD is 10 to 12%. The risk if it’s father has a CHD is only 1 to 3%

37
Q

What is another name for 22q11 deletion

A

DiGeorge Syndrome

38
Q

What type of CHD is associated with DiGeorge syndrome

A

Conotruncal defects and VSD

39
Q

What is the incidence of CHD in DiGeorge syndrome and what is the most common defect?

A

95%, conotruncal defects

40
Q

Fetus with pulmonary stenosis, will be tested for what syndrome

A

Noonan syndrome

41
Q

Noonan syndrome is associated with what type of CHD

A

Pulmonary stenosis

42
Q

What is the incidence of CHD in Noonan syndrome, and what is the most common defect?

A

65%, pulmonary stenosis

43
Q

7q11.23 deletion is also known as

A

William syndrome

44
Q

What types of CHD are commonly associated with William syndrome

A

Aortic stenosis, pulmonary stenosis, and VSD

45
Q

What is the incidence of CHD in William syndrome?

A

100%

46
Q

Trisomy 13 is also known as

A

Patau syndrome

47
Q

What is the incidence of CHD in trisomy 13?

A

90%

48
Q

What CHD’s are associated with trisomy 13?

A

VSD, ASD

49
Q

Trisomy 18 is also known as

A

Edward syndrome

50
Q

What is the incidence of CHD in trisomy 18?

A

99%

51
Q

Congenital heart disease is most common in which of the following: trisomy 13, trisomy 18, or trisomy 21

A

Trisomy 18

52
Q

Trisomy 21 is also known as

A

Down Syndrome

53
Q

The incidence of CHD in trisomy 21 is

A

50%

54
Q

Trisomy 21 is most commonly associated with what type of CHD

A

AVSD

55
Q

Turner syndrome is also known as

A

Monosomy X or 45X

56
Q

What is the incidence of CHD in cases of Turner syndrome

A

25%

57
Q

Turner syndrome is most commonly associated with what type of CHD

A

Coarctation

58
Q

You observe an atrio-ventricular septal defect in a fetus. This finding is commonly associated with what chromosomal abnormality

A

Trisomy 21/down syndrome

59
Q

You observe coarctation of the aorta. This finding is most commonly associated with what syndrome?

A

Turner syndrome / monosomy X / 45X

60
Q

A patient was given indomethacin to counteract premature labor. She is sent for a fetal echo. What condition are you most concerned about?

A

Premature closure of the ductus arteriosus.

61
Q

A patient has been taking lithium. Historically, which, cardiac anomaly are you most concerned about?

A

Ebstein anomaly

62
Q

What percent of cases of CHD are minor and easily corrected by surgery

A

50%

63
Q

What percent of cases of CHD are diagnosed by the first week of life

A

46%

64
Q

What percent of cases of CHD are diagnosed by the first year of life

A

88%

65
Q

What percent of cases of CHD are diagnosed by the fourth year of life,

A

98%

66
Q

Which exam indication has the highest yield for finding a CHD in fetal echo?

A

Suspected cardiac anomaly on routine screening ultrasound

67
Q

What nuchal translucency cut off is currently used as an indication for a fetal echo

A

Greater than or equal to 3.5 mm.

68
Q

True or false: gestational, diabetes diagnosed beyond the first trimester of pregnancy increases the risk of CHD in the fetus, and indicates an echo

A

False. However, pre-gestational diabetes increases the risk of CHD by five times.

69
Q

In what scenario is gestational diabetes, diagnosed beyond the first trimester, considered an indication for an echo

A

When there’s poor glycemic control in either pre-gestational or gestational diabetes, a 3rd trimester echo is indicated to assess for ventricular hypertrophy where HbA1c has been greater than 6% in 2nd trimester.

Fetal echo (1 decks)

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