Define Birth Defect

What percent of US births have birth defects? Worldwide?

What are the main causes for birth defects? What percent do they account for from all birth defects?

What percent of neonates have at least one birth defect?

Ninety percent of infants with multiple minor defects have ____________.

What does multifactorial inheritance mean?

What is Dysmorphology?

What is Malformation?

Cri du Chat is a condition that exhibits Malformation. Describe how this condition presents clinically.

What is Disruption?

Can a Disruption be inherited?

What is the difference between a Malformation and a Disruption?

Fetal Alcohol Syndrome is an example of a birth defect caused by a _________ (1).

Describe how Fetal Alcohol Syndrome presents clinically (2).

What is a Deformation?
Provide an example.

What is Amniotic Band Syndrome?

What is Dysplasia?

Organogenesis is complete by the end of the 1st trimester. Further differentiation is referred to as _________ (1). If there is dysplasia, it is then referred to as _________(2).

What is ectodermal dysplasia?

1. What is Achondroplasia?
2. What causes Achrondroplasia?

What is Polytopic Field Defect?

What is Caudal Regression? What is it an example of?

What is a sequence?

What is Potter's Sequence?

What is a Syndrome?
Provide an example.

What is an Association?

What is Teratology?

1. What is Spina Bifida?
2. Can it be surgically cured?
3. What can be done to decrease the risk of developing Spina Bifida?
4. Where is the most common location for Spina Bifida?

Scientists used to believe that the neural tube had one closure site and it closed through a zipping mechanism.

Approximately how many closure sites do scientists now think are involved in the formation of the neural tube?

What is Spina Bifida with Meningocele?

What can be done about it?

What is the prognosis for children with this condition?

What is the most severe form of Spina Bifida?

What can individuals with this condition also experience?

70-90% of these individuals will also have what other condition?

1. What is Hydrocephalus? What can it cause?

2. What surgical procedure helps with this?

What ultrasound findings are associated with Spina Bifida?

(4 major findings)

What is Anencephaly?

What is an Encephalocoele?

What happens when the defect is small? Large?

1. What is Craniosynastosis?

2. Is it an association, sequence, syndrome, etc?

3. How is it inherited? What about isolated craniosynastosis?

What is dolichocephaly?

What is Oxycephaly/Brachycephaly?

1. What is Microcephaly and how does it occur?

2. What is it NOT caused by?

3. Individuals with Microcephaly are severely _______ _______.

1. What is holoprosencephaly?

2. ____% are affected with a chromosome abnormality. Seventy-five percent of these are _______ ___.

3. _______ ________ increases the incidence of holoprosencephaly 200-fold.

4. Pregnancy management should include what? (3 things)

1. What is Hydrocephalus?

2. It is congenital or acquired?

3. What can Hydrocephalus cause?

Describe the normal flow of Cerebrospinal Fluid.

What results from abnormal CSF flow?

1. What two types of problems can we encounter with abnormal CSF flow? What is the difference between them?

2. Which individuals does it disproportionately affect?

3. Does it usually occur unilaterally or bilaterally?

4. How is it inherited?

5. What is the recurrence risk?

What is the differential diagnosis for hydrocephalus?

Outline the management for a pregnancy with hydrocephalus.

Outline what the neonatal assessment for hydrocephalus would include.

1. What is a Tracheoesophogeal Fistula?

2. What variation of this is the most common? By what percent?

3. Which individuals are disproportionately affected?

4. This condition is associated with a 6-10% of what?

50% of infants with esophogeal atresia have a congenital anomaly.

List 5

VATER/VACTERL is an acronym for what syndrome of anomalies?

1. What is Congenital Diaphragmatic Hernia?

2. What does it result in?

3. How is it usually inherited?

4. What may also be present?

5. Is it unilateral or bilateral?

1. What is gastroschisis?

2. What is it due to?

3. What is the fetal demise risk in the third trimester?

4. What mothers are disproportionately affected with gastrochisis? What is it often associated with?

Outline the surgical repair of gastroschisis.

The surgical repair of gastroschisis can be done all at once (primary repair) or in stages, depending on postnatal assessment of the exposed bowel.

1. Primary repair involves what?

2. What can make primary repair not feasible?

Outline the staged approach to gastroschisis repair.

1. What is an omphalocele?

2. Thirty percent of infants with an omphalocele have increased risk of _________.

Unilateral Renal Agenesis occurs in 1 out of 1000 births.

1. Which individuals are disproportionately affected?

2. Which kidney is usually absent?

1. What is duodenal atresia?

2. Approximately 20-30% of infants with duodenal atresia also are affected with what?

3. What can possibly arise from this condition? Why?

Discuss the differences between duodenal stenosis and duodenal atresia.

Describe the recanalization of the duodenum and what can go wrong which leads to duodenal atresia or stenosis.

What is a hemivertebrae?

1. What is Pectus Excavatum?

2. It is often seen in individuals that also have what?

____ % of normal karyotype + normal Ultrasound have an abnormal microarray

____ % of normal karyotype + abnormal Ultrasound have an abnormal microarray

_____ % of fetuses reveal a VUS in their microarray

What are the CMA recommendations for the following scenarios:

1. Normal ultrasound

2. Abnormal ultrasound

3. IUFD or Stillbirth >20 weeks gestation

What should a counselor mention about CMA to patients before they go through with testing?

(6 items listed in class)

17q12 Deletion Syndrome:

Discuss its penetrance and phenotype.

Neurexin I (NRXN1)

1. What does this gene encode?
2. What does that gene product do?
3. Errors in this gene are associated with what?
4. Discuss its penetrance and expressivity

SIX3 Deletion

1. What is this deletion associated with phenotypically?

2. What kind of gene/gene product is this and what is its role?

What are some patient reactions to abnormal CMA results?

To reduce negative patient reactions to abnormal or uncertain CMA results, counselors should be sure to discuss what important items before testing?

What are some decision-making aids for patients?