Fetal Development Flashcards

(50 cards)

1
Q

What is happening during the foetal period?

A

Growth and physiological maturation of the structures created during the embryonic period. It involves preparation for the transition to independent life after birth

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2
Q

When is pregnancy counted from?

A

Pregnancy weeks are calculated from the date of LMP, i.e., conception weeks +2, so term is 40 pregnancy weeks.

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3
Q

Which weeks mark the pre-embryonic, embryonic, and fetal stages?

A

Pre-embryonic = weeks 1-2, embryonic = weeks 3-8, fetal = week 9 onwards.

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4
Q

When do the lungs start to develop?

A

The lungs develop relatively late, after the cardiac system.

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5
Q

When is the bronchopulmonary tree created?

A

Embryonic development creates only the bronchopulmonary tree (trachea & main bronchi).

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6
Q

When does functional specialization occur in lung development?

A

Functional specialization occurs in the foetal period.

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7
Q

What is the embryological origin of the lungs?

A

The lungs originate from the primitive gut tube (endoderm).

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8
Q

Describe lung development from the gut tube.

A

Lungs are a diverticulum of the gut tube and separate after forming a septum (tracheoesophageal septum).

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9
Q

Describe lung development in the foetal period.

A

W8-16: bronchioles; W16-26: respiratory bronchioles; W26-term: terminal sacs, alveoli type I and II cells.

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10
Q

When are surfactants produced and by which cells?

A

Surfactants are produced in week 26 by alveoli type II cells, reducing surface tension in the lungs.

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11
Q

Why are there breathing movements if no gas exchange is occurring in T2&3?

A

Gas exchange is conducted at the placenta, but lungs must be prepared for the full burden at birth. Breathing movements condition the respiratory musculature and allow lungs to become fluid-filled by inhaling amniotic fluid, crucial for normal lung development.

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12
Q

What is respiratory distress syndrome?

A

It often affects infants born prematurely due to insufficient surfactant production, leading to increased surface tension.

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13
Q

What is the treatment for RDS?

A

If pre-term delivery is unavoidable, glucocorticoid treatment of the mother can increase surfactant production in the fetus.

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14
Q

What are developmental disorders/birth defects?

A

They are present at birth and can be structural, functional, or metabolic, with a wide range of causes, most of which are unknown.

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15
Q

What are teratogens? Give 4 examples.

A

Teratogens are agents that can interfere with normal development. Examples include congenital infections (TORCH, rubella, Zika, CMV), drugs and environmental pollutants, maternal metabolic diseases (e.g., diabetes), and radiation exposure.

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16
Q

How can birth defects be classified?

A

Classified by timing: pre-embryonic (pre-week 2, lethal or no effect), early effects (2-4 weeks, scattered pattern), later effects (4-8 weeks, localized effects), and foetal period (>week 9, organ growth and functional maturation affected).

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17
Q

At which period is the baby most at risk of teratogenic disruption?

A

The embryonic period, with the exception of effects on the CNS, which continues developing past the embryonic period.

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18
Q

What causes congenital anomalies to occur?

A

Congenital anomalies occur when normal development is disrupted.

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19
Q

Define deformation, disruption, sequence, and malformation.

A

Deformation: late changes in previously normal structures (mechanical effect) e.g., talipes. Disruption: secondary disturbance due to early influence of external factors e.g., amniotic bands. Sequence: primary defect leads to a cascade of further anomalies e.g., Potter sequence. Malformation: primary disturbance of embryogenesis.

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20
Q

What are antenatal examinations/tests?

A
  1. Screening: non-invasive (little/no risk), blood tests, and obstetric ultrasound screening. 2. Diagnostics: invasive, including amniocentesis/chorionic villus sampling (CVS) for definitive results.
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21
Q

When do combined tests need to be carried out and what do they test?

A

Combined tests need to be done before 14 weeks, covering maternal age, nuchal translucency, serum free bhCG, and PAPP-A, reporting the chance of T21 and T18/T13.

22
Q

What do quadruple tests test?

A

Quadruple tests assess maternal age, hCG, unconjugated E3, inhibin A, and AFB, testing for T21 only.

23
Q

What is a non-invasive prenatal test (NIPT)?

A

Foetal DNA fragments are extracted from maternal plasma, sequenced, and mapped to the genome, with statistical analysis performed on the number of reads from the chromosome(s) of interest.

24
Q

What can happen to single genes?

A

Mutation in gene or deletion of gene.

25
What can happen to chromosomes?
Translocation, duplication (e.g., trisomy 21 - Down syndrome), or microdeletion.
26
What is trisomy 21 and how can it arise?
Trisomy 21 is the presence of 3 copies of chromosome 21, arising from non-disjunction or due to a translocation event (Robertsonian translocation).
27
What is Di George syndrome?
It is a deletion of a section of chromosome 22 (22q11.2), causing loss of the TBX1 gene involved in craniofacial development, characterized by a range of anomalies.
28
What is CHARGE syndrome?
CHARGE syndrome is caused by a CHD7 heterozygous mutation, essential for the production of neural crest cells.
29
What does CHARGE stand for?
C: Coloboma, H: Heart defects, A: Atresia choanae, R: Retarded growth, G: Genital abnormalities, E: Ear abnormalities.
30
What conditions are screened for during the 20-week scan?
The 20-week scan screens for 11 conditions that may benefit from treatment before or after birth, need treatment in a specialist setting after birth, could lead to infant mortality, or prompt discussions about pregnancy options.
31
What is assessed during the 20-week scan?
Assessment includes craniofacial development, femur, spine, abdominal circumference, and cardiac development.
32
Name 2 selected conditions screened for during the 20-week scan.
1. Spina bifida 2. Anencephaly.
33
What causes spina bifida and anencephaly?
Defects in the closure of the neuropores: caudal NT defect results in spina bifida, cranial NT defect results in anencephaly.
34
What causes spina bifida and how can it be prevented?
Spina bifida is caused by defects in the closure of the neuropores, and prevention strategies include folic acid supplementation.
35
What do cleft lip and palate result in?
Cleft lip and palate can lead to difficulty swallowing, hearing problems, dental issues, and speech problems.
36
Why does cleft lip & palate occur?
Cleft lip and palate occur due to the failure of fusion of three distinct tissue types that need to merge together.
37
What are the three distinct tissue types that need to be merged or fused together?
The three distinct tissue types are the maxillary process, medial nasal clefts, and palatal shelves.
38
What is required for the fusion of the oral and nasal cavity?
A fusion event is required for the separate oral and nasal cavity.
39
What are the characteristics of cleft lip and palate?
Cleft lip and palate can be unilateral or bilateral and may be hidden due to an effect on the palate alone.
40
What causes cleft lip and palate?
It results from a failure of the maxillary process and medial nasal clefts to form the upper lip, and the fusion of the palatal shelves to form the palate.
41
What is gastroschisis?
Gastroschisis is the evisceration of the foetal intestine through a paraumbilical wall defect (to the right of the umbilicus).
42
What are the causes and associations of gastroschisis?
It could be due to the involution of the right umbilical vein or right vitelline artery, or abnormal folding of the body wall. It is often associated with young mums, smoking, and drug use.
43
What is the prognosis for gastroschisis?
It has a good prognosis after surgery and is not as severe as omphalocele.
44
What is omphalocele?
Omphalocele is the herniation of the abdominal contents into the umbilical cord.
45
What does an omphalocele look like?
It appears as a transparent sac of amnion attached to the umbilical ring, containing herniated viscera.
46
What causes omphalocele?
It occurs due to a persistence of the embryonic midgut herniation that normally occurs in fetal development.
47
What is the association of omphalocele with other abnormalities?
60% of cases are associated with other abnormalities, and 20% of cases are due to an underlying chromosomal abnormality.
48
What are congenital heart defects?
Congenital heart defects are structural problems with the heart that are present at birth.
49
Why are congenital anomalies important?
Congenital anomalies are important due to their impact on health and development.
50
How can these conditions be prevented?
Prevention strategies include proper prenatal care, avoiding harmful substances, and genetic counseling.