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O&G: Obstetrics > Congenital Abnormalities and Their Identification > Flashcards

Congenital Abnormalities and Their Identification Flashcards

1
Q

Which trisomy is Down’s syndrome?

A

Trisomy 21

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2
Q

Which trisomy is Edward’s syndrome and what is the prognosis?

A
  1. Trisomy 18

2. Most die soon after birth

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3
Q

What is this a presentation of?

Newly born child, small chin, low-set ears, rocker-bottom feet, VSD.

A

Edward’s syndrome

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4
Q

Which trisomy is Patau’s syndrome and what is the prognosis?

A
  1. Trisomy 13

2. Most die soon after birth

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5
Q

What is this a presentation of?

Newly born child, microcephaly, holoprosencephaly, exophthalmos, cleft-lip and palate.

A

Patau’s syndrome

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6
Q

When does chorionic villus sampling take place?

A

11-13 weeks

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7
Q

What is this describing?

Placenta is sampled transabdominally under continuous USS.

A

Chorionic villus sampling

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8
Q

What is the process after the initial harvesting in chorionic villus sampling?

A
  1. Karyotyping using FISH and PCR takes 2 days

2. Enzyme and gene probe analysis takes 3 weeks using array-CGH

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9
Q

What are the risks involved in chorionic villus sampling?

A
  1. Miscarriage risk of 1-2%
  2. Increased risk of transmission of blood-borne viruses
  3. Anti-D needed in Rh-ve
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10
Q

When is amniocentesis carried out?

A

From 16 weeks

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11
Q

What is this describing?
Aspiration of amniotic fluid containing foetal cells shed from skin, small needle passed transabdominally under continuous USS.

A

Amniocentesis

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12
Q

What is amniocentesis used for and what is the process after initial harvesting?

A
  1. Can diagnose foetal infections like CMV

2. Karyotyping using FISH and PCR takes 2 days

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13
Q

What are the risks involved in amniocentesis?

A
  1. Miscarriage risk of 1%

2. Anti-D needed in Rh-ve

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14
Q

What is the non-invasive screening method for trisomy (retard cunt) disorders?

A

Cell free foetal DNA

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15
Q

What CNS abnormalities does the anomaly scan identify?

A
  1. Spina bifida

2. Anencephaly (incompatible with life)

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16
Q

What abdominal abnormalities does the anomaly scan identify?

A
  1. Exomphalos - partial extrusion of abdominal contents in peritoneal sac, offer amniocentesis
  2. Gastroschisis - free loops of bowel in amniotic cavity
17
Q

What are the risk factors for foetal cardiac abnormalities on an anomaly scan?

A

Congenital cardiac disease, diabetes mellitus, AEDs, previous deliveries, chromosomal abnormalities.

18
Q

What chest abnormalities does the anomaly scan identify?

A
  1. Diaphragmatic hernia - causes pulmonary hypoplasia

2. Pleural effusion - may cause pulmonary hypoplasia and hydrops

19
Q

What gastrointestinal abnormalities does the anomaly scan identify?

A
  1. Oesophageal atresia and trachea-oesophageal fistula - stomach is small, polyhydramnios present
  2. Duodenal atresia - double-bubble USS sign, Down’s syndrome common, polyhydramnios
  3. Lower gut atresia - dilated bowel, meconium ileus due to CF common
20
Q

Which urogenital abnormality does the anomaly scan identify?

A

Hydronephrosis - due to obstruction/reflux, children prone to infection and renal damage

21
Q

What skeletal and facial abnormalities does the anomaly scan identify?

A
  1. Skeletal dysplasia syndromes

2. Cleft lip and cleft palate

22
Q

What is this describing?

Extra fluid accumulates in 2 or more areas in the foetus.

A

Foetal hydrops

23
Q

What are the two different causes of foetal hydrops?

A
  1. Immune - due to anaemia and haemolysis (Abs)

2. Non-immune - chromosomal/structural abnormalities, CMV, PV-B19, twin-twin transfusion syndrome.

24
Q

What is the cure for foetal hydrops?

A
  1. Transfusion for anaemia

2. Laser ablation for twin-twin transfusion syndrome

25
Q

What is this describing?

Excess amniotic fluid in the amniotic sac.

A

Polyhydramnios

26
Q

What are the causes of polyhydramnios?

A
  1. Idiopathic
  2. Established diabetes mellitus and gestational diabetes
  3. Twins (twin-twin transfusion syndrome)
  4. Foetal anomaly
27
Q 
What is this a presentation of?
Maternal discomfort (urinary incontinence, breathlessness), large for dates, foetal parts difficult to palpate.
A

Polyhydramnios

28
Q

What are the complications of polyhydramnios?

A

Preterm labour, abnormal lie, malpresentation, PPH.

29
Q

What is the management for polyhydramnios?

A
  1. Reduce fluid - if 34/40 and severe then amnioreduction/NSAIDs, steroids also if <34.40
  2. Deliver - vaginal unless persistent unstable lie

O&G: Obstetrics (36 decks)

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