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Complexities of the Newborn > Congenital Disorders > Flashcards

Congenital Disorders Flashcards

1
Q

What does birth defect mean?

A

Abnormality of structure/function or metabolism present at birth

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2
Q

What does malformation mean?

A

arises during embryonic life as abnormal developmental process

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3
Q

What does dysmorphic mean?

A

a term used to indicate presence of multiple minor malformations

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4
Q

What does association mean?

A

non-random occurrence of several anomalies not known to be a syndrome or sequence

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5
Q

What does malformation syndromes mean?

A

chromosomal, inherited or environmentally induced

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6
Q

What does deformation mean?

A

mechanical alteration on form or shape with previous normal development

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7
Q

What does disruption mean?

A

interruption of normal development resulting in destruction of a body part

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8
Q

What does sequence mean?

A

single primary malformation with its secondary consequences

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9
Q

what does syndrome mean?

A

distinctive pattern of malformations with a single underlying cause

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10
Q

How are congenital abnormalities classified?

A

Lethal
severe
mild

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11
Q

What is an example of a lethal congenital abnormality

A

anencephaly

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12
Q

What is an example of a severe congenital abnormality?

A

congenital diaphragmatic hernia

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13
Q

What is an example of a mild congenital abnormality?

A

developmental dysplasia of hip (DDH)

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14
Q

What is a terarogen?

A

any agent administered to a pregnant mother that directly or indirectly causes structural or functional abnormalities in the fetus

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15
Q

What effects does congenital defects have on the baby?

A

chromosomal abnormalities
impairement of implantatiom of the conceptus
reabsorption or abortion of the early embryo
structural malformations
FGR/IUGR retardation
fetal death
functional impairment of the neonate
behavioural abnormalities
intellectual impairment

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16
Q

How do drugs pass to the fetua?

A

via the placenta

17
Q

When is the blood brain barrier developed?

A

2nd half of pregnancy

18
Q

What teratogens do midwives screen for?

A

alcohol
tobacco
contraceptive pills
MMR vaccine
opioids
NSAIDs
ACE inhibitors
SSRIs
methotrexate
epilepsy treatments
radiation
illicit drugs

19
Q

What is neural tube defects?

A

malformations of the developing brain and spinal cord

20
Q

How is neural tube defects diagnosed?

A

ultrasound
elevated MSAFP levels
amniocentesis

21
Q

What is anencephaly?

A

a total or partial absence of the brain, together with total or partial absence of the cranial vault and the covering skin

22
Q

What is encephalocoele?

A

herniation of brain tissue outside the cranial cavity

23
Q

What is choanal atresia?

A

congenital blockage of the posterior nares caused by the presence of a bony septum or a soft tissue membrance

24
Q

What is Pierre Robin Sequence?

A

mandibular hypoplasia in association with cleft palate resulting in airway obstruction by posterior displacement of the tongue and the small mandible

25
Q

What is oesophageal atresia (OA)?

A

an interruption of the oesophagus

26
Q

What is tracheal oesophageal fistula (TOF)?

A

abnormal communication between trachea and oesophagus

27
Q

What is CDH?

A

congenital diaphragmatic hernia
herniation of abdominal organs into the thoracic cavity through a defect in the diaphragm

28
Q

What syndromes are associated with GI defects?

A

Apert Syndrome
Beckwith-Wiedmann
Fetal Hydantion syndrome
Meckel-Gruber syndrome
Trisomy 13,18,21

29
Q

What does VACTERL/S stand for?

A

vertebral
anal
cardiac
tracheo-esophageal
renal
limb
single umbilical artery

30
Q

What is Exomphalos?

A

herniation of abdominal viscera inot the umbilical cord, usually covered by transparent sac with umbilical arteries and vein inserting into apex of the defect

31
Q

What is Gastroschisis?

A

herniation of abdominal contents through an abdominal wall defect to the right or left of the umbilicus

32
Q

What is Intestinal Obstruction?

A

may be mechanical or functional in nature and can occur anywhere from the oesophagus to the anus

33
Q

What is Potter’s Sequence?

A

severe oligohydramnious
polycystic kidney
bilateral renal agenesis
obstructive uropathy

Complexities of the Newborn (12 decks)

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