What is the Down's syndrome screening quality assurance support service (dqass)?

Understanding FASP and its Quality Assurance

05/07/2018

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The NHS Fetal Anomaly Screening Programme (FASP): A Comprehensive Guide

The National Health Service (NHS) in England is dedicated to providing comprehensive antenatal care for all expectant mothers. A vital component of this care is the Fetal Anomaly Screening Programme (FASP). FASP aims to offer screening for a range of conditions, allowing parents to make informed decisions about their pregnancy journey. This article delves into the intricacies of FASP, its screening pathways, the tests involved, and the essential quality assurance mechanisms, including the Down’s syndrome screening quality assurance support service (DQASS).

What is the Down's syndrome screening quality assurance support service (dqass)?
The Down’s syndrome screening quality assurance support service (DQASS) is commissioned by PHE to support FASP. The main aim of DQASS is to monitor and support the quality and effectiveness of Down’s syndrome, Edward’s syndrome and Patau’s syndrome screening in England.

What is FASP?

FASP is one of eleven national population screening programmes commissioned by the NHS in England. Its primary objective is to offer screening to all eligible pregnant women. This screening process is designed to detect certain chromosomal conditions, such as Down’s syndrome, Edwards’ syndrome, and Patau’s syndrome, as well as eleven physical conditions. The information provided through FASP empowers pregnant individuals to make personal, informed choices about whether to undergo these screenings.

Target Population and Timings

FASP covers specific screening windows throughout a pregnancy to ensure timely detection and appropriate management. The timings are crucial for the effectiveness of the tests:

Condition(s) ScreenedPregnancy Gestation
Down’s syndrome10⁺⁰ to 20⁺⁰ weeks
Edwards’ syndrome and Patau’s syndrome10⁺⁰ to 14⁺¹ weeks
11 physical conditions (via 20-week scan)18⁺⁰ to 20⁺⁶ weeks (scans can be completed up to 23⁺⁰ weeks)

Healthcare professionals, including midwives, are mandated to offer these screenings as part of routine antenatal care. The NHS is committed to reducing inequalities and variations in participation, striving for fair and equal access to these vital services for everyone.

Conditions Screened For

FASP screens for several significant conditions:

  • Down’s syndrome (Trisomy 21): A genetic condition that can cause developmental delays and distinctive physical features.
  • Edwards’ syndrome (Trisomy 18): A serious genetic condition that can cause severe developmental delays and significant health problems.
  • Patau’s syndrome (Trisomy 13): A rare and severe genetic disorder that can lead to significant health issues and intellectual disability.
  • 11 Physical Conditions: These are identified during the 20-week anomaly scan and can include a range of structural abnormalities affecting various organs and body systems.

Detailed information about the care pathways for these screenings, as well as the 20-week anomaly scan, is readily available.

Screening Tests Explained

FASP employs various screening tests, each with its specific purpose and timing. The "Screening tests for you and your baby" leaflet provides comprehensive details on these procedures.

The Combined Test

This is the test of choice offered during the first trimester. It combines a blood test from the pregnant person with an ultrasound measurement (nuchal translucency) of the fluid at the back of the baby’s neck. This test assesses the likelihood of the baby having Down’s syndrome, Edwards’ syndrome, or Patau’s syndrome.

The Quadruple Test

Offered in the second trimester, this blood test measures specific proteins in the pregnant person’s blood. It is used to assess the chance of the baby having Down’s syndrome. While the combined test is preferred, the quadruple test serves as an alternative or follow-up in certain circumstances.

The 20-Week Screening Scan

Also known as the anomaly scan, this detailed ultrasound examination is performed between 18 and 20 weeks of pregnancy. It is designed to screen for structural abnormalities and physical conditions in the baby, including Edwards’ syndrome and Patau’s syndrome, along with other physical anomalies. The scan can be performed up to 23 weeks of gestation.

Private Screening Options

For individuals considering screening outside the NHS pathway, information is available regarding private screening options through the "Private screening: important information" leaflet. It is essential to understand the scope and limitations of any private screening service.

Non-Invasive Prenatal Screening (NIPT)

NIPT represents a significant advancement in prenatal screening. It has been integrated into the NHS FASP pathway for Down’s syndrome, Edwards’ syndrome, and Patau’s syndrome as part of an evaluative rollout. NIPT involves a simple blood test from the pregnant person, which can detect small fragments of the baby’s DNA circulating in their blood. This allows for a highly accurate assessment of the chance of these chromosomal conditions. NIPT is now offered following a higher chance result (typically between 1 in 2 and 1 in 150) from either the combined or quadruple test, and it is available for both singleton and twin pregnancies. Further operational guidance on NIPT is available for those seeking more in-depth information.

Diagnostic Tests: Confirming Results

When a screening test indicates a higher chance of a specific condition, or if unexpected findings are noted during the 20-week scan, diagnostic tests may be offered. These tests provide a definitive diagnosis:

  • Chorionic Villus Sampling (CVS): Usually performed between 11 and 14 weeks of pregnancy, CVS involves taking a small sample of placental tissue.
  • Amniocentesis: Typically performed after 15 weeks of pregnancy, amniocentesis involves taking a sample of amniotic fluid surrounding the baby.

Both CVS and amniocentesis carry a small risk of miscarriage, and the decision to proceed with these tests should be made after careful consideration and discussion with healthcare professionals. Information for parents regarding these procedures is available to aid in this decision-making process.

The Evidence Base and UK NSC

FASP’s recommendations and practices are grounded in robust evidence. The UK National Screening Committee (UK NSC) plays a crucial role in this. The UK NSC advises ministers across the UK on all aspects of population screening, ensuring that screening programmes offer more benefit than harm and are cost-effective for the NHS. Recommendations are based on internationally recognised criteria and rigorous evidence review processes. The UK NSC’s work ensures that FASP adheres to the highest standards of evidence-based practice.

Data, Intelligence, and Reporting

Transparency and accountability are key to effective public health programmes. NHS England publishes annual data collected from FASP, providing insights into screening uptake, outcomes, and performance. A joint antenatal screening standards data report is also published, alongside Key Performance Indicator (KPI) data reports for all 11 national screening programmes. These data reports are vital for monitoring the effectiveness and equity of FASP. Guidelines on handling patient information are in place to safeguard personal data within screening programmes, ensuring patient confidentiality is paramount.

Requests for Screening Data and Research

For those wishing to access FASP data for research purposes, a formal approval process is in place. All such requests must be approved by the antenatal and newborn screening research advisory committee (RAC). The terms of reference for these committees outline the criteria and procedures for research access. Routine data requests, not related to research, should be directed through the PHE Screening helpdesk.

Commissioning and Pathway Specifications

NHS England provides detailed specifications for the FASP screening pathways, including the 20-week screening scan pathway and the Down’s syndrome, Edwards’ syndrome, and Patau’s syndrome screening pathway. These documents outline what should occur at each stage of the end-to-end process. Providers and commissioners are expected to utilise these specifications to ensure the delivery of high-quality and consistent screening services across the country.

Quality Assurance: Ensuring Excellence

Ensuring the consistent quality and safety of screening services is a cornerstone of FASP. Guidance is available on the programme’s processes for guaranteeing seamless and safe screening throughout the entire pathway. This includes the programme-specific operating model for quality assurance, which should be read in conjunction with the latest SQAS (Screening Quality Assurance Service) operating model and relevant programme standards. This comprehensive approach to quality assurance is critical for maintaining public trust and delivering effective screening.

The Down’s Syndrome Screening Quality Assurance Support Service (DQASS)

The Down’s syndrome screening quality assurance support service (DQASS) is a vital component of FASP’s quality assurance framework. Commissioned by Public Health England (PHE), DQASS plays a pivotal role in supporting the FASP programme. Its main aim is to monitor and enhance the quality and effectiveness of screening for Down’s syndrome, Edwards’ syndrome, and Patau’s syndrome across England. DQASS works to ensure that all screening services meet stringent standards, contributing to equitable and high-quality care for pregnant individuals and their families.

Workforce Education and Training

To support the delivery of FASP, a range of education and training resources are available for healthcare professionals involved in the programme. These resources cater to both initial training and continuing professional development (CPD), ensuring that the workforce remains knowledgeable and skilled. Staying updated with the latest guidance and best practices is encouraged, and professionals can register to receive direct email updates on the NHS Fetal Anomaly Screening Programme.

Conclusion

The NHS Fetal Anomaly Screening Programme (FASP) is a comprehensive and evidence-based initiative designed to provide expectant parents with crucial information about their pregnancy. By offering a range of screening tests and diagnostic options, coupled with a robust quality assurance system spearheaded by services like DQASS, FASP strives to promote informed choices and ensure the best possible outcomes for both mother and baby. Staying informed about these services is essential for all pregnant individuals in England.

Frequently Asked Questions

Q1: What is the main goal of FASP?
A1: The main goal of FASP is to offer screening to all eligible pregnant women for conditions like Down’s syndrome, Edwards’ syndrome, Patau’s syndrome, and physical anomalies, enabling informed decision-making.

Q2: When is the combined test offered?
A2: The combined test is offered in the first trimester of pregnancy.

Q3: What is NIPT and how is it used in FASP?
A3: NIPT (Non-Invasive Prenatal Screening) is a blood test that assesses the chance of chromosomal conditions. It is offered in FASP following a higher chance result from the combined or quadruple test.

Q4: What is the role of DQASS?
A4: DQASS (Down’s syndrome screening quality assurance support service) monitors and supports the quality and effectiveness of screening for Down’s syndrome, Edwards’ syndrome, and Patau’s syndrome in England.

Q5: Are there any risks associated with diagnostic tests like CVS and amniocentesis?
A5: Yes, diagnostic tests like CVS and amniocentesis carry a small risk of miscarriage. These decisions should be made in consultation with healthcare professionals.

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