Birth Defects

Question 1

What does disturbances in carbohydrate metabolism during pregnancy in diabetic mothers cause?

Answer 1

A high incidence of stillbirths, neonatal deaths, abnormally large infants, and congenital malformations.

Question 2

What is the risk of congenital anomalies in the offspring of diabetics with long-standing disease?

Answer 2

The risk of congenital anomalies has been reported to be as high as 80%.

Question 3

Is insulin a teratogen?

Answer 3

NO!

Question 4

What are the factors responsible for abnormalities?

Answer 4

They have not been identified, evidence suggests that altered glucose levels play a role.

Question 5

True OR False:
A significant correlation exists between the severity and duration of the mother’s disease and the incidence of malformations.

Answer 5

True

Question 6

What reduces the occurrence of malformations?

Answer 6

Strict control of maternal metabolism with aggressive insulin therapy prior to conception.

Question 7

What is the risk of congenital anomalies in children born to mothers with pregestational diabetes (both Type 1 [insulin dependent] and type 2 [non-insulin dependent] )?

Answer 7

three to four times higher

Question 8

Increased risk for a wide variety of malformations such as?

Answer 8

neural tube defects
congenital heart defects
caudal dysgenesis (sirenomelia)

Question 9

What is caudal dysgenesis (sirenomelia) usually fatal due to?

Answer 9

It is usually fatal due to anomalies in the kidneys and bladder.

Question 10

What is Phenylketonuria (PKU)?

Answer 10

An autosomal recessive metabolic genetic disorder characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH).

Question 11

What is PAH necessary for?

Answer 11

PAH is necessary to metabolize the amino acid phenylalanine (Phe) to the amino acid tyrosine.

Question 12

What are mothers with PKU at risk for having infants with?

Answer 12

intellectual disability
microcephaly
cardiac defects

Question 13

How do mothers with PKU reduce the risk?

Answer 13

Keep a low-phenylalanine diet before conception and during pregnancy.

Question 14

What can untreated PKU lead to?

Answer 14

Mental retardation, seizures, and other serious medical problems.

Question 15

When is the diagnosis for PKU usually made?

Answer 15

At birth, PKU is commonly included in the newborn screening panel of most countries.

Question 16

Patients diagnosed early who keep a strict diet will have?

Answer 16

A normal life span with normal mental development.

Question 17

Are nutritional deficiencies teratogenic?

Answer 17

YES! Especially vitamin deficiencies.

Question 18

What does poor maternal nutrition prior to and during pregnancy contributes to?

Answer 18

low birth weight and birth defects

Question 19

What causes endemic cretinism and what are it’s characteristics?

Answer 19

Iodine deficiency and it is characterized by stunted mental and physical growth.

Question 20

Another name for Congenital Hypothyroidism?

Answer 20

Cretinism

Question 21

How does Cretinism occur?

Answer 21

Can be endemic, genetic, or sporadic.

Question 22

What does sporadic or genetic cretinism result from?

Answer 22

Abnormal development or function of the fetal thyroid gland.

Question 23

Is genetic or sporadic cretinism common in developed countries?

Answer 23

NO! Almost completely eliminated in developed countries by early diagnosis by newborn screening schemes followed by lifelong treatment with thyroxine (T4).

Question 24

What happens if cretinism is left untreated?

Answer 24

If untreated, results in mild to severe impairment of both physical and mental growth and development.

Question 25

In 2007 to 2008, how many women of reproductive age were obese (Body Mass Index >30)?

Answer 25

over 1/3

Question 26

What is pregnancy obesity associated with risks for?

Answer 26

neural tube defect (risk is 2 times more) | heart defects, omphalocele, and multiple congenital anomalies.

Question 27

Why does pregnancy obesity cause congenital anomalies?

Answer 27

May relate to metabolic disturbances.

Question 28

Hypoxia induces congenital malformations in animal models.

Answer 28

Children born at a high altitude are lighter in weight and smaller than those born near or at sea level, no increase in the incidence of congenital malformations has been noted.

Question 29

In Japan the contamination of fish with high levels of organic mercury resulted in?

Answer 29

Children with multiple neurological symptoms similar to cerebral palsy (seizures, irritability, jitteriness, feeding and respiratory problems, and lethargy).

Question 30

Lead increases rate

Answer 30

Abortions, growth retardation, and neurological disorders..

Question 31

The assessment of growth and development of the fetus in utero, is usually performed by?

Answer 31

Ultrasound, amniocentesis, chorionic villus sampling (CVS), and maternal serum screening.

Question 32

In combination, these techniques are designed to detect?

Answer 32

Malformations, genetic abnormalities, fetal growth, and complications of pregnancy, such as placental or uterine abnormalities.

Question 33

Ultrasonography

Answer 33

Noninvasive technique that uses high- frequency sound waves reflected from tissues to create images.

Question 34

2 approaches of ultrasonography

Answer 34

transabdominal or transvaginal Extra: transvagnial produces images with higher resolution

Question 35

Important parameters revealed by ultrasound include:

Answer 35

characteristics of fetal age and growth; presence or absence of congenital anomalies; status of the uterine environment, including the amount of amniotic fluid; placental position and umbilical blood flow; and whether multiple gestations are present

Question 36

Amniocentesis

Answer 36

The transabdominal sampling of amniotic fluid and fetal cells. Performed at weeks 14-18.

Question 37

Amniocentesis is indicated when?

Answer 37

woman is over 35 years Previous child with a chromosomal anomaly • One parent is a known carrier of a translocation or inversion One or both parents are known carriers of an X-linked recessive or autosomal recessive trait There is a history of neural tube defects

Question 38

The sample of amniotic fluid obtained is used in what studies?

Answer 38

1. a-Fetoprotein assay 2. Spectrophotometric assay of bilirubin 3. Lecithin-sphingomyelin (L/S) ratio and phosphatidylglycerol assay 4. DNA analysis

Question 39

What is a-Fetoprotein assay used to diagnose?

Answer 39

neural tube defects

Question 40

What is Spectrophotometric assay of bilirubin used to diagnose?

Answer 40

hemolytic disease of the newborn

Question 41

What is Lecithin-sphingomyelin (L/S) ratio and phosphatidylglycerol assay used for?

Answer 41

To determine lung maturity of the fetus.

Question 42

What is DNA Analysis used to diagnose?

Answer 42

Chromosomal abnormalities and single-gene defects.

Question 43

Chorionic Villus Sampling is used for?

Answer 43

Sampling of the chorionic villi to obtain a large amount of fetal cells for DNA analysis.

Question 44

2 approaches of chorionic villus sampling

Answer 44

transabdominal or transcervical

Question 45

When is Chorionic villus biopsy is performed?

Answer 45

weeks 6-11 (earlier than amniocentesis)