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Human development > Screening > Flashcards

Screening Flashcards

1
Q

Routine infectious disease screens?

A

HIV
Syphilis
Hep B
Thalassaemia

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2
Q

When is the anomaly scan?

A

Weeks 18-21

50% of Downs syndrome children will show features on US (cardiac defects)

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3
Q

Which test happens in weeks 10-14?

A

Trisomies 13, 18, 21

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4
Q

What makes up the combined test in the 1st trimester?

A

1) Maternal age
2) Nuchal translucency (12 weeks)
3) Gestational age from foetal length (CRL)
4) PAPP-A, free beta-hCG

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5
Q

Combined test results for T18 and T13:

A

High NT (higher in 18)
Low beta-hCG (lower in T18)
Low PAPP-A (both lower than in T21)

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6
Q

Combined test results for T21:

A

High NT
High beta-hCG
Low PAPP-A

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7
Q

If screening is +ve, offer diagnosis. What are the diagnostic methods and the corresponding weeks?

A

<15 weeks = CVS

>16 weeks = amniocentesis

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8
Q

What is NIPT?

A

Non-invasive prenatal testing

Used for detecting anueploidies (T13, 18, 21)

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9
Q

What is NIPD?

A 
Non-invasive prenatal diagnosis
Rhesus D
Y chromosome
Dominant disorders (FGFR2+3 for skeletal dysplasias)
Recessive disorders (Duchenne - RHDO)
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10
Q

What does RHDO mean?

A

Relative haplotype dosage

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11
Q

Protocol with HIV +ve mother?

A

Reduce viral load and prevent transmission

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12
Q

Protocol with mother with Hep B?

A

Vaccinate neonate

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13
Q

Protocol with syphilis?

A

Treat mother to prevent congenital syphilis

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14
Q

Criteria for chromosome abnormality screening?

A

Offer to everyone between 11+0 and 13+6 weeks gestation

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15
Q

Which group gets pre-conceptual - 10 week screening?

A

Those at high risk of sickle and thalassaemia

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16
Q

US - Acrania:

A

12 weeks = absence of ossified skull

16 weeks = encephalopathy

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17
Q

US - Alobar holoprosencephaly:

A

Forebrain abnormalities in transverse views associated with T13 and T18 in >50% of cases and 20% associated with genetic syndromes

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18
Q

US - Spina bifida:

A

Open lemon and banana sign

Closed by surgery

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19
Q

US - Cleft lip and palate:

A

11-13 weeks

30% associated with genetic syndrome

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20
Q

US - Diaphragmatic hernia:

A

20% associated with T13 or T18
10% associated with other genetic syndromes
20% associated with other system defects
Therapy = fetoscopic placement of balloon in trachea at 26 weeks

21
Q

What are the only chromosomes viable in an aneuploidy state?

A

13, 18, 21, X and Y

22
Q

What are the two types of chromosomal translocation?

A

Robertsonian

Reciprocal

23
Q

Robertsonian translocation can only occur with which chromosomes?

A

Acrocentric chromosomes

13, 14, 15, 21 and 22

24
Q

Common Robersonian translocations?

A

der(13;14) is the most common

der(14;21) is next most common, female carriers of which have a 15% risk of a T21 pregnancy

25
Q

Reproductive risks of balanced Robertsonian translocations?

A

Recurrent miscarriages
Patau syndrome (T13)
Downs syndrome (T21)
Male infertility

26
Q

What is QF-PCR used for?

A

Aneuploidy and sexing

27
Q

What is aCGH used for?

A

Detecting genomic imbalance across the genome

28
Q

What is G-banded chromosome analysis used for?

A

Confirmation of aCGH result and for follow up

29
Q

What is FISH in metaphase used for?

A

Confirmation of aCGH result and for follow up

30
Q

What is FISH in interphase used for?

A

To detect unbalanced products of a known familial balanced rearrangement

31
Q

What is mutation testing or sequencing used for?

A

To test for monogenic disorders

32
Q

Patau syndrome:

A 
T13 or unbalanced transloc: 46Xn + 13,der(13;14)(q10;q10)
XX
Cleft lip and palate
Holoprocencephaly
Post-axial polydactyly (toe)
Renal problems
Cardiac problems
Severe mental disability
45% die within 1 month, 85% within 1 year
33
Q

What is holoprocencephaly?

A

Failure of the embryonic forebrain to separate into two hemispheres

34
Q

Edward’s syndrome:

A 
T18
XX or XY
Severe mental disability
Micrognathia
Clenched fingers
Cardiac defects
Prominent heels and rocker-bottom feet
35
Q

Downs syndrome:

A 
40% have cardiac defects
Up-slanting features
Clinodactyly (inward curving 5th finger/toe)
Intellectual disability
GI disorder
Feeding problems
Single palmar crease
Hypotonic baby with hyper-extensible joints
36
Q

Noonan’s syndrome:

A

Short stature, down-slanting features, poor growth
CHD
Pectus excavatum/carinatum
Spine deformities
Intelligence unaffected mostly
Poor hearing, poor clotting
Delayed puberty, undescended testes, male infertility

37
Q

What causes Noonan’s syndrome?

A

Autosomal dominant mutation in gene involved in hyperactive Res signalling
KRAS, BRAF, MEF, PTPN11

38
Q

Features of neurofibromatosis:

A 
Cafe-au-lait spots
Neurofibromas
Bone defects
Scoliosis
Lisch nodules
Glioma
39
Q

Crossover between NF type 1 and Noonan’s:

A

Valvular pulmonary stenosis

Noonan-like facies aka Watson syndrome

40
Q

del22q11.2 =

A 
CHD - conotruncal anomaly
Cleft lip and/or palate
Absent thymus and parotid glands
Dysmorphic features and learning disabilities
Motor and speech delay
ASD
Psychiatric disorder
Polymicrogyria
41
Q

del7q11 =

A 
William's syndrome:
Facial differences
Narrowed aorta and pulmonary arteries
Hypertension
Friendly and outgoing, anxious
ADHD
Scoliosis, bone and joint problems
Kidney problems and UTIs
Musical talent
42
Q

del16p11.2 =

A 
Learning difficulties
ASD
Seizures and learning difficulties
Schizophrenia, bipolar disorder and depression
Obesity in young adults
25 gene deletion (can be unaffected)
43
Q

Autosomal recessive metabolic conditions:

A

Oculocutaneous albinism
BBS (obese, neurodisability, kidney and retina problems)
MPS

44
Q

X-linked:

A

Haemophilia
Duchenne MD - onset at 3-6 years of age, progressive weakness, pseudo hypertrophy of calf muscles, cardiopulmonary involvement, spinal deformity

45
Q

What is detectable at 10-14 weeks?

A

Anencephaly

46
Q

When can you detect spina bifida?

A

By 16-22 weeks (lemon and banana sign)

47
Q

Higher serum maternal AFP correlates with…

A

Severity of neural tube defect

48
Q

Difference between myotonic dystrophy and congenital myotonic dystrophy?

A

The first is 3 repeats whereas the latter is 4 repeats

Congenital is more severe with respiratory failure, developmental delay and ASD

Human development (7 decks)

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