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Embryology MD1 > Birth Defects > Flashcards

Birth Defects Flashcards

1
Q

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

A

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

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2
Q

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

A

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

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3
Q

Is insulin a teratogen?

A

NO!

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4
Q

What are the factors responsible for abnormalities?

A

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

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5
Q

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

A

True

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6
Q

What reduces the occurrence of malformations?

A

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

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7
Q

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] )?

A

three to four times higher

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8
Q

Increased risk for a wide variety of malformations such as?

A 
neural tube defects
congenital heart defects
caudal dysgenesis (sirenomelia)
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9
Q

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

A

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

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10
Q

What is Phenylketonuria (PKU)?

A

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

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11
Q

What is PAH necessary for?

A

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

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12
Q

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

A

intellectual disability
microcephaly
cardiac defects

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13
Q

How do mothers with PKU reduce the risk?

A

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

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14
Q

What can untreated PKU lead to?

A

Mental retardation, seizures, and other serious medical problems.

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15
Q

When is the diagnosis for PKU usually made?

A

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

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16
Q

Patients diagnosed early who keep a strict diet will have?

A

A normal life span with normal mental development.

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17
Q

Are nutritional deficiencies teratogenic?

A

YES! Especially vitamin deficiencies.

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18
Q

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

A

low birth weight and birth defects

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19
Q

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

A

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

20
Q

Another name for Congenital Hypothyroidism?

A

Cretinism

21
Q

How does Cretinism occur?

A

Can be endemic, genetic, or sporadic.

22
Q

What does sporadic or genetic cretinism result from?

A

Abnormal development or function of the fetal thyroid gland.

23
Q

Is genetic or sporadic cretinism common in developed countries?

A

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

24
Q

What happens if cretinism is left untreated?

A

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

25
Q

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

A

over 1/3

26
Q

What is pregnancy obesity associated with risks for?

A

neural tube defect (risk is 2 times more)

heart defects, omphalocele, and multiple congenital anomalies.

27
Q

Why does pregnancy obesity cause congenital anomalies?

A

May relate to metabolic disturbances.

28
Q

Hypoxia induces congenital malformations in animal models.

A

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.

29
Q

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

A

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

30
Q

Lead increases rate

A

Abortions, growth retardation, and neurological disorders..

31
Q

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

A

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

32
Q

In combination, these techniques are designed to detect?

A

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

33
Q

Ultrasonography

A

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

34
Q

2 approaches of ultrasonography

A

transabdominal or transvaginal

Extra: transvagnial produces images with higher resolution

35
Q

Important parameters revealed by ultrasound include:

A

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

36
Q

Amniocentesis

A

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

37
Q

Amniocentesis is indicated when?

A

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

38
Q

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

A
  1. a-Fetoprotein assay
  2. Spectrophotometric assay of bilirubin
  3. Lecithin-sphingomyelin (L/S) ratio and phosphatidylglycerol assay
  4. DNA analysis
39
Q

What is a-Fetoprotein assay used to diagnose?

A

neural tube defects

40
Q

What is Spectrophotometric assay of bilirubin used to diagnose?

A

hemolytic disease of the newborn

41
Q

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

A

To determine lung maturity of the fetus.

42
Q

What is DNA Analysis used to diagnose?

A

Chromosomal abnormalities and single-gene defects.

43
Q

Chorionic Villus Sampling is used for?

A

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

44
Q

2 approaches of chorionic villus sampling

A

transabdominal or transcervical

45
Q

When is Chorionic villus biopsy is performed?

A

weeks 6-11 (earlier than amniocentesis)

Embryology MD1 (3 decks)

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