Antenatal Screening Flashcards

1
Q

What antenatal screening is offered in Wales?

A
  • Early pregnancy USS
  • Fetal Anomaly USS
  • Blood groups + Antibodies
  • Hepatitis B
  • HIV
  • Sickle Cell + Thalassaemia
  • Down’s syndrome screening
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2
Q

What is the purpose of the early pregnancy scan?

A
  • Determine viability of pregnancy
  • Estimate gestational age
  • Take measurements required for Down’s syndrome screening programme
  • Detect multiple pregnancies
  • Detect some major fatal abnormalities ( large NTD)
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3
Q

How is the gestational age calculated?

A

Age from last menstrual period - count 2 weeks before conception occurs as pregnant

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4
Q

What measurements are taken in the early pregnancy scan?

A

Ultrasound used to measure

  1. Crown-rump length - more accurate earlier its done
  2. Head circumference if crown-rump length above 84mm
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5
Q

What is the purpose of the Nuchal translucency scan?

A
  • NT = measurement of depth of translucency at back of fetal neck using US

N.B. Difficult to do in obese women

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6
Q

What is the Fetal anomaly scan?

A
  • Look for structural abnormalities in fetus
  • Offer support + advice if identified
  • Where lethal -> discuss management options (inc. termination if appropriate)
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7
Q

When is the Fetal anomaly scan done?

A

18 weeks - 20 weeks + 6 days

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8
Q

When is the NT scan done?

A

11 weeks - 13 weeks + 6 days

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9
Q

What are open neural tube defects, what causes them and how are they diagnosed?

A
  • Includes Spina bifida, Acrania + Anencephaly
  • Causes by reduced folic acid
  • Lab findings = elevated AFP detectable at quad test
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10
Q

What is screened for in bloods during pregnancy?

A
  • Syphilis
  • Hepatitis B
  • HIV
  • Rhesus antibodies
  • Down’s syndrome
  • Sickle cell + thalassaemia
  • FBC + blood group - anaemia
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11
Q

How is Down syndrome diagnosed?

A
  • Risk increases with maternal age (40+ or 18-)
  • US findings = increased NT
  • Lab findings =
    1. Elevated hCG + INH-A
    2. Lower than average levels of MSFAP + unconjugated Oestriol
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12
Q

What is the rationale for Down syndrome screening?

A
  • Not diagnostic - high/low risk result
  • High risk pregnancies offered diagnostic test
  • +ve result offered termination of pregnancy
  • Screening via combined or quadruple test
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13
Q

Compare the quadruple and combined screening tests for Down’s syndrome

A
  • Combined done earlier
  • Combined has better detection rate
  • Quadruple used for obese women
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14
Q

What are the 2 types of diagnostic screening offered?

A
  1. Chorionic villus sampling (CVS)

2. Amniocentesis

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15
Q

How does CVS work?

A
  • Chorionic villi aspirated through abdomen under US guidance
  • Sample sent to genetic lab immediately
  • Results within 3 WD’s + full karyotype within 14 WD’s
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16
Q

How does amniocentesis work?

A
  • Cells analysed for chromosomal + single gene disorders

- 1% risk of infection + spontaneous miscarriage

17
Q

What are indications for amniocentesis?

A
  • High risk screening result
  • Advanced maternal age
  • History of chromosomal disorder
  • Mother carrier of X-linked disorder
  • Maternal choice
18
Q

Compare CVS and Amniocentesis

A
  • CVS done earlier (11 weeks vs 15 weeks)
  • CVS has greater miscarriage risk
  • Greater proportion of CVS tests will not give result
19
Q

What is the NIFTY/NIPT test?

A
  • Examines peripheral blood from mother to estimate risk of fetal chromosomal aneuploidies carried in unborn (Cf-DNA)
  • Highly accurate
  • Simple - requires tiny bit of maternal venous blood
  • Risk free - prevents intrauterine infection + risk of miscarriage
  • Early as 10 weeks of gestation
  • Can be carried out in twin pregnancies