Cases/Maternity and Reproductive Health

High-chance Down's Syndrome Screening Result — Free SCA Practice Case

Woman with a high-chance Down's syndrome screening result

Station Timer

12:00

Golden Minute

Initial Introduction

•Introduce yourself

•Ask an open question — "How can I help you today?"

•Listen — don't interrupt

•Catch early cues

Data Gathering

History, ICE & Diagnosis

Clinical Management

Diagnosis, Plan & Decisions

Safety Net

Follow-up & Close

12:00

Golden Minute

Materials for Candidate

Please review before starting the consultation

Patient Profile

Full Name

Meena Kapoor

Age

40 years

Consultation Type

Telephone

Age

Situation

Telephone Consultation. The patient has received her combined-screening result and has booked an urgent call to discuss it.

Reason for Encounter

"I've had a letter about my screening — it says I'm high chance for Down's syndrome. I don't know what to do. I need to talk it through."

Medical Records

●PMH: Nil. First pregnancy, ~13 weeks.
●Medications: Folic acid, vitamin D.
●Allergies: NKDA.
●Screening result: Combined test — higher-chance result for trisomy 21 (Down's syndrome), 1 in 90. Lower chance for trisomies 18/13. Booked with midwife; dating scan done.

Patient Script

For the friend playing the patient role

Character Overview: You are Meena, 40, pregnant for the first time with a much-wanted baby conceived after some difficulty. You have just received a letter saying your combined screening shows a "higher chance" of Down's syndrome, and you are shaken and confused. You do not fully understand what the result means or what your options are. You are torn: you want certainty, but you have read that the definitive tests carry a miscarriage risk, and you could not bear to lose this pregnancy. You are looking for information and support, not to be told what to do.

Opening Sentence: "Hi Doctor. I got a letter saying my screening test came back 'higher chance' for Down's syndrome — one in ninety, it said. I don't really understand what that means or what I'm supposed to do now. My head's all over the place. Can you help me make sense of it?"

History if Asked (Data Gathering Phase)

●Her understanding of the result: "I think it means there's a chance the baby has Down's, but I don't know how likely one in ninety actually is. Does that mean the baby definitely has it?"
●How she's feeling: "Shaken. This baby means everything to us — it took a while to conceive. I keep swinging between wanting to know for sure and being terrified of doing anything that could risk the pregnancy."
●What she knows about the tests: "I've heard there's a blood test that's more accurate, and then a test with a needle that's definite but risky. I don't really understand the difference."
●The pregnancy: "First pregnancy, about 13 weeks. I've had my scan and I'm booked with the midwife."
●Her values (if explored): "I honestly don't know what I'd do with the information. Part of me needs to know to prepare; part of me worries about what knowing would mean."

ICE — Ideas, Concerns, Expectations

The patient does not volunteer this information unprompted. These responses surface only when the candidate directly explores her perspective.

●Ideas: Meena partly believes a "high-chance" result may mean the baby has Down's, and is unclear about the difference between screening and diagnostic tests. "I'm not sure if 'high chance' means it's likely, or definite, or what the next test would actually tell me."
●Concerns: Her twin concerns are losing this hard-won pregnancy to an invasive test, and the uncertainty of not knowing — she feels caught between them. "I'm frightened of the needle test causing a miscarriage after everything it took to get here. But I'm also frightened of not knowing."
●Expectations: She wants the result and her options explained clearly, and to be supported to decide — not told what to do. "I want to understand it properly and to work out what's right for us. I don't want to be pushed either way."

If Asked — Background

The patient confirms these details only when directly asked.

●Family history: "No family history of Down's syndrome or genetic conditions on either side that I know of."
●Medical/pregnancy: "No medical problems, no diabetes or blood pressure issues. Pregnancy's been fine otherwise."
●Support: "My partner's supportive — we're deciding this together. We've got family around us."
●Medications/lifestyle: "Folic acid and vitamin D. Non-smoker, no alcohol."
●Antenatal care: "Booked with the midwife, scan done."

Responses to Management (The Negotiation Phase)

●If the Doctor explains a high-chance result is not a diagnosis: "So one in ninety doesn't mean the baby has Down's? Most babies with that result don't?" (The tested point is explaining that a screening result gives a chance, not a diagnosis.)
●If the Doctor explains NIPT: "So the blood test — NIPT — is more accurate but still not 100%? What does it actually tell me?" (The tested point is explaining NIPT as a further, more accurate screening step that is safe but not diagnostic.)
●If the Doctor explains diagnostic testing: "And the needle test is the only way to know for sure, but it could cause a miscarriage? How big is that risk?" (The tested point is explaining CVS/amniocentesis — definitive but with a small miscarriage risk.)
●If the Doctor is asked "what would you do?": "What would you do, Doctor? Just tell me what's best." (The tested point is remaining non-directive — supporting her to decide in line with her own values rather than steering her.)
●If the Doctor discusses support: "Is there anyone I can talk to about this, to help me decide?"

Mark Scheme

Domain 1: Data Gathering and Diagnosis

0 / 16 indicators checked+0−0

Positive (0/8)

Negative (0/8)

Domain 2: Clinical Management and Medical Complexity

0 / 18 indicators checked+0−0

Positive (0/9)

Negative (0/9)

Domain 3: Relating to Others

0 / 12 indicators checked+0−0

Positive (0/6)

Negative (0/6)

Clinical Learning Points

Screening Result versus Diagnosis

●A combined-screening result gives a chance (e.g. 1 in 90), not a diagnosis. A "higher-chance" result means an increased likelihood — but most babies with a higher-chance result do not have Down's syndrome.
●Correcting this misconception is the essential first step.

The NHS Screening Pathway (FASP)

●Combined test (11–14 weeks): nuchal-translucency scan plus blood test, estimating the chance of trisomies 21/18/13.
●Quadruple test (14–20 weeks): a blood test offered if the woman books later; less accurate than the combined test.
●After a higher-chance result, women are offered a choice of further testing.

NIPT (Non-Invasive Prenatal Testing)

●NIPT analyses cell-free fetal DNA in maternal blood. It is a much more accurate screening test and is safe (no miscarriage risk), but it remains a screening test — not diagnostic — so a positive NIPT is usually confirmed with a diagnostic test.

Diagnostic Testing

●Chorionic villus sampling (CVS, from ~11 weeks) and amniocentesis (from ~15 weeks) sample placental tissue or amniotic fluid and are definitive, but carry a small miscarriage risk.
●The choice between NIPT first or proceeding directly to a diagnostic test is the woman's.

Non-Directive Counselling — No Right Answer

●The clinician's role is to give balanced, accurate information and to support the woman's autonomous decision — not to steer her. When asked "what would you do?", stay non-directive and help her weigh the options against her own values.
●Declining further testing is a valid choice.

After a Confirmed Diagnosis

●If Down's syndrome is confirmed, the woman is supported whatever she decides — continuing the pregnancy and preparing, or considering termination — with specialist input. Present this non-judgementally.

Support and Time

●Offer fetal-medicine/screening-midwife counselling, signpost Antenatal Results and Choices (ARC) and reliable information, give time, and arrange follow-up. Continue standard antenatal care.

Common Candidate Mistakes in This Case

●Letting "high chance" be heard as a diagnosis: not explaining that most such results are unaffected pregnancies.
●Misrepresenting the tests: confusing screening with diagnostic, or misstating NIPT's accuracy/safety or the diagnostic miscarriage risk.
●Being directive: telling her what to do, or steering her — the key relational failure.
●Rushing the decision: pressuring her rather than giving time, support, and follow-up.
●Omitting support: not signposting specialist counselling or ARC.

Free MRCGP SCA practice case for GP registrars covering High-chance Down's Syndrome Screening Result — Maternity and Reproductive Health. Includes candidate brief, patient script, marking scheme mapped to the RCGP SCA marking domains, and learning points. Built directly from the RCGP curriculum topic stations listed under "How this might be tested in the MRCGP SCA," part of a free library of 79 SCA practice cases for simulated consultation assessment preparation.

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