Prenatal Screening Flashcards

1
Q

Screening in Pregnancy: Aims:

A

A process of identifying those who may be at risk of a disease or a condition.

to offer info, continue further testing and reduce risks/complications

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2
Q

Screening in Pregnancy:

A
  • blood group screening
  • infectious diseases: HIV, Hep B, syphilis
  • haemoglobinopathie
  • oral glucose tolerance test: gestational
    diabetes
  • Down syndrome (trisomy 21)
  • Edward Syndrome (Trisomy 18)
  • Patau Syndrome (Trisomy 13)
  • Dating ultrasound at 12 weeks
  • anomaly ultrasound at 20 weeks
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3
Q

Screening Timeline:

A

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4
Q

Blood Group Screening:

A
  • determine maternal blood group: Rh+/-
  • Rh- mother first pregnancy no issues
  • second pregnancy; if first pregnancy had
    Rh+ babe, antibodies are raises in mother
    and cant target RBCs of a second Rh+ baby
    in a following pregnancy
  • can result in an anemic baby or a baby
    who develops jaundice after birth

= haemolytic disease of the newborn

IgM antibodies in first pregnancy are large so can not pass placenta
Second pregnancy, smaller IgGs can pass through the placenta

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5
Q

Haemoglobinopathies:

A
  • all women offered thalassaemia screening,
    high risk offered sickle cell disease
    screening
  • test preferably before 10 weeks, if mother
    is found to be carrier, father is offered
    screening
  • most commonly seen in African, Carribean,
    Mediterranean, Indian, Asian backgrounds
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6
Q

IDPS: Infectious Diseases in Pregnancy Screening:

A
  • HIV: can be passed during pregnancy, birth
    or breastfeeding if untreated
  • Hep B: if diagnosed, specialist care offered
    complete course of vaccinations for
    baby in first year to reduce risk
  • Syphilis: treated with antibiotics, earlier
    treatment, lower risk of passing it
    on to the baby
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7
Q

Dating Scan:

A
  • ultrasound
  • confirms viable pregnancy at 12 weeks
  • 2-3% will have miscarried at this point
  • confirms the number of foetuses and
    chorionicity (one sac vs two)
  • measures foetus size to estimate gestation
    of the pregnancy
  • checks for other conditions/structural
    abnormalities

*part of combined screening test, to determine trisomy’s, only done between 10-14 weeks

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8
Q

Dating Scan: Other conditions/structural abnormalities:

A

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9
Q

Combined Screening Test:

A
  • ultrasound scan, screening for down
    syndrome, edwards syndrome and pataus
    syndrome
  • second part:
  • blood test from mother, when foetus is
    between 10-14 weeks (only this time
    frame)
  • tests for bhCG (beta human chorionic
    gonadotrophin) -> beta subunit of a
    placenta produced protein (trophoblast
    cells)
  • PAPP-A (pregnancy associated plasma
    protein A) -> glycoprotein released soon
    after implantation
  • nuchal translucency scan?
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10
Q

Which one is B-hCG and PAPP-A

A

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  • normal starting point dependant on
    maternal age and risk of developing
    trisomy based on level
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11
Q

NT Scan: Nuchal Translucency Scan:

A
  • between 11 and 14 weeks
  • measures fluid at the back of the foetal
    neck
  • associated with risk of trisomys
  • per maternal age, and fluid accumulation,
    risk is determined

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12
Q

First Trimester Combined Screening Outcome:

A

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13, 18, 21 -> rest are fatal

incidence of trisomy is provided in ratio

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13
Q

Factors the can influence Combined Screening:

A
  • maternal age
  • gestational age
  • ethnicity
  • smoking (affects placenta)
  • IVF
  • multiple pregnancy
  • weight: increased blood volume, dilute
    marker conc in serum
  • diabetes
  • past history of chromosome abnormality
  • fetal sex
  • analytical imprecision
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14
Q

For which trisomy is the quadruple screening test offered?

A
  • screens for T21 only (down syndrome)
  • if missed combined screening test
  • lower detection rate than combined
  • indications: NT measurements can’t be
    obtained, CRL > 84, head circumference
    between 101-173mm
  • test undergone between 14 -20 weeks

Checks:
- alpha fetoprotein (AFP): produced by yolk
sac, liver in foetal liver
- bhCG
- inhibin A: protein that regulates FSH
secretion
- unconjugated oestriol: steroid hormone

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15
Q

When is risk for trisomy considered high?

A
  • 1:150
  • 1:151 = low risk
  • if high risk further screening tests are
    offered

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16
Q

NIPT: Non-invasive Prenatal Testing:

A
  • for high risk trisomy
  • FURTHER SCREENING TEST -> maternal
    blood
  • cell free foetal DNA analysed in maternal
    blood
  • looks at chromosomes 13,18,21
  • increased detection compared to a normal
    threshold indicates incidence of a trisomy
    syndrome
  • test maternal blood from 10 weeks
  • screening for T21 sensitivity and specificity
    over 99%
  • less accurate in twins
  • more accurate the combined/quadruple
  • less accurate before 10 weeks
17
Q

If NIPT shows high risk of trisomy then what tests are offered?

A
  • diagnostic tests = invasive
  • chorionic villous sampling (10-13 weeks)
  • amiocentesis (15-20 weeks)

around 1% risk of miscarriage, higher in twins

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18
Q

FASP: Fetal Anomaly Screening Programme:

A
  • ultrasound scan between 18-26 weeks
  • screening for 11 conditions:
    • where baby may benefit from treatment
      before/after birth
    • birth is advisable in an appropriate
      hospital/center to optimise treatment
      after the baby is born
    • baby may die shortly after birth
19
Q

What conditions are screened at 20 weeks in FASP?

A
  • anencephaly
  • open spina bifida
  • cleft lip
  • diaphragmatic hernia
  • gastroschisis
  • exomphalos
  • serious cardiac anomalies
  • bilateral renal agenesis
  • lethal skeletal dysplasia
  • edward’s syndrome
  • patau’s syndrome
20
Q

Meiosis:

A

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21
Q

Chromosome Non-disjunction:

A
  • mistake in chromosome separation during
    meiosis
  • one daughter cells ends up with a
    chromosome pair, other does not; one
    daughter ends up with two sister
    chromatid the other with none -> gametes
    with incorrect chromosome numbers
  • Aneuploidy: one more or one less
    chromosome (45/47) = non-viable
  • monsomies or trisomies
22
Q

Down Syndrome:

A
  • Trisomy 21
  • some level of learning disabilities,
    heart/septal defects, sight/hearing
    problems
  • 1 in 1000 live births
  • neurodevelopmental delay is variable
  • 50% heart defects
  • 95% due to non-disjunction
  • 4% due to translocation of chromosome
    21 to 14
  • 1% due to mosaicism
23
Q

Down Syndrome: Features:

A
  • flat face, upward slant to eyes
  • short neck
  • abnormally shaped ears
  • protruding tongue
  • small head
  • deep crease in the palm of the hand with
    relatively short fingers
  • white spots in the iris of the eye
  • poor muscle tone, loose ligaments,
    excessive flexibility
24
Q

Edward’s Syndrome:

A
  • trisomy 18
  • 1 in 8000 live births
  • most die before or just after birth
  • median survival rate is 2 weeks
  • 10% survive up to 5 years
25
Q

Edward’s Syndrome Characteristics:

A
  • low birth weight
  • microcephaly (small head)
  • severe learning disability
  • micrognathia (small jaw)
  • malformations of heart and kidneys
  • clenched fists and malformed feet
  • feeding and breathing problems
  • cleft lip/cleft palate
26
Q

Patau’s Syndrome:

A
  • trisomy 13
  • heart defects, brain defects, spinal
    abnormalities, physical abnormalities
  • low birth weight
  • stillborn, die within few days
  • 10% survive the first year
  • 1 in 25,000
27
Q

Patau’s Syndrome Characteristics:

A
  • cleft lip/palate
  • microphthalmis = abnormally small eye/s
  • anopthalmia = absence of 1/both eyes
  • hypetelorism = reduced distance between
    eyes
  • nasal passage abnormal development
  • cutis aplasia = skin missing from scalp
  • ear malformations and deafness
  • raised, red birthmarks = capillary
    haemangiomas
28
Q

Prevalence of Trisomies

A

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