Iyamide Thomas (SCS)

Elaine Miller (UKTS)

� The aim of the antenatal SCT screening programme is to offer informed reproductive choice.

� Early screening and offer of prenatal diagnostic testing (PND) to women and parents with an increased chance of having a baby affected by sickle cell disease or thalassaemia is important to ensure they have time to have the tests, consider the options and make a decision.

� Between 1 April 2014 and 31 March 2016 only 40% of PND tests were performed by the 12 weeks and 6 days standard, a decline of approximately 10% on previous years.

� The SCT AG appointed a subgroup to explore causes for late testing with HCPs and service users.

� We asked a number of trusts to help.� Criteria for inclusion:• a high prevalence of sickle cell disease and thalassaemia• not meeting the 50% acceptable KPI ST2 for the

‘timeliness of test’�Only one trust accepted this challenge.� Using a simple questionnaire we mapped women's

journeys along the screening pathway. To do this we used data from the case notes of 47 women who had either accepted or declined PND because they were at increased risk of having a baby with sickle cell disease or thalassaemia.

� We also analysed data from a service delivery questionnaire completed by 17 midwives, a GP and a laboratory scientist.

� The majority of women were referred into maternity services via their GP.

� All women knew the date of their last menstrual period but it was not included in the GP referral for 14/47 women.

� Awareness of carrier status was high; 36/47 women already knew they were at risk when they first presented.

� Just over half first presented by 10weeks + 0 days gestation.

� Thirteen women were tested the same day as booking and one woman was tested before booking; some women experienced long intervals between booking and testing.

� Just over half of fathers attended screening, the most common reason for not attending was carrier status already known.

� Carrier status on its own is not reason for fast track and women recorded as fast-tracked did not necessarily move through the pathway more quickly.

� PND laboratory turnaround times exceeded the turnaround targets; results were communicated to women the same day they were received.

� This work revealed variation in service delivery between and within teams e.g. in target gestational age for booking.

� Women were expected to attend their booking appointment within14 days from receipt of referral letter; 27 out of 47 women achieved.

� Screening at the booking was not routine. Women are expected to have blood taken within 5 days of booking - less than 50% of women were tested within one week of booking, the remainder were tested between 2 and 8 weeks + 6 days.

� Women who book to give birth at a neighbouring hospital are expected to attend that hospital for phlebotomy.

� The majority; 53% of women from ethnic minority groups first attended before 10 weeks gestation and 76.5% already aware of their carrier status.

� Good practice existed in silos.

� Iyamide Thomas (SCS) and Elaine Miller (UKTS) interviewed 13 women (some with husbands) about 16 pregnancies.

� The interviews were face to face using a survey questionnaire.

� Criteria for inclusion in the interviews and clinical audit:

• recent experience of NHS SCT screening programme

• either an ‘at risk couple’ or ‘carrier woman’ where baby’s biological father was unavailable who had either accepted or declined PND

� We knew before pregnancy that we wanted to have PND and would terminate the pregnancy if the baby had sickle cell disease. Although I attended the GP at 5 weeks pregnant. I was 14 weeks when I had PND. Our baby had sickle cell disease and because I was late had to have a medical termination.

◦We need healthcare professionals who: • understand the condition• refer promptly to counselling and

offer of PND promptly

� I first attended the GP at 4 weeks, we did not know we bot had sickle cell trait. I was screened at 12 weeks and counselled at 20 weeks – we did not accept PND.

� After the baby was born they did the heel prick test and I got a call saying my baby has sickle cell disease. I didn’t know much about sickle cell disease but saw people in Africa who didn’t live long so I was scared.

�We need healthcare professionals who:• understands the condition• can explain genetic inheritance• take the screening tests and refer promptly • tell us about the positive outcomes for children being

treated for sickle cell disease in this country

� In this pregnancy the midwife told me to contact the centre myself.

� I liked the counselling and that their telephone number is direct and not all around the houses.

� The centre was very helpful and got me an appointment for PND very quickly.

� Things for this pregnancy were all timely and I am looking forward to my baby.

� “We need more awareness about sickle cell among midwives. I already had a child with sickle cell and told her I was at risk but she didn’t seem to know much about the condition and said she would contact a more senior nurse. She gave me the ‘screening tests and your baby’ leaflet and asked me about testing for Downs. I was more concerned about sickle cell”

� (38 year old lady who has had 3 PND’s in total. Her first child (age 10) has sickle cell and no PND as she returned to UK 6 months pregnant)

� As parents we fully understand that we are at risk of having a child with thalassaemia with every pregnancy. In accordance with our religious beliefs and personal ethics we do not believe in antenatal screening or in termination of pregnancy unless the mother’s life is at risk. We need the healthcare professionals to:

• be respectful of our beliefs • treat an informed decision to decline screening

and PND with sensitivity and respect • tell us about the positive outcomes for children

being treated for thalassaemia in this country• put us in touch with patient organisations so

that we can: � find someone in our community to help explain

genetic inheritance to our families � meet young people/ adults living successfully

with thalassaemia

� As a couple at risk of having a child with thalassaemia who believe in “ensoulment” at 120 days’ gestation and have made the decision that we do not wish to bring another child with thalassaemia into the world, our needs are:

• self-referral to counselling and PND• for healthcare professionals to be

aware that timing of PND is crucial to informed choice

• for healthcare professionals to be aware of the Muslim belief of ‘ensoulment’, women who hold this belief may opt for PND and TOP of an affected child but only if this happens before 120 days gestation

� “ We told the GP on the first day that we are carriers and we want the test. Weeks went by, I kept phoning the surgery, I even went in to see them but they told me the hospital is very busy and they can’t do anything. I was panicking but I didn’t know who I could speak to. By the time we got our first appointment my wife was 16/17 weeks pregnant so it was already too late for us”.

� (Family in Middlesex expecting 2nd child. First child not affected. They would have opted for TOP within the 120 days allowed in the Muslim faith. Child born with thalassaemia major).

� Assumptions that women presented late and were not aware of the conditions, genetic inheritance and that screening is choice were not supported.

� Only one third of women were screened on the same day as booking and at risk women and couples were not fast-tracked.

� Known ‘at risk’ women and couples who already knew they wanted PND were not fast-tracked and for some the offer came too late.

�Audit showed non-compliance with guidelines and there was variability between and within teams.� Women counselled by specialist haemoglobinopathy nurses and

midwives reported positive experiences but too often the service delayed rather than facilitated access to specialists.

� Some healthcare professionals were not trained to ask and evaluate genetic information. They lacked knowledge of the conditions and the screening pathway and did not recognise the need for prompt referral to counselling and PND.

� Standard 5 ‘timeliness of offer of PND’ is being piloted as a quarterly KPI.

� Measures offer of PND and includes gestational age of women that both decline and accept PND.

� Better indicator of an effective screening pathway and choice

Date of PND test

Gestation at PND test

PND procedure

Date PND result

available (date

reported on result)

PND result Date of results reporte

d to parents

Time between PND test

and results reported

Pregnancy outcome

Newborn screening

result("N/A" if not applicable)

Comments

Weeks

Days Select from list

Select from list

Auto-calculated

Select from list

Select from list

PND audit tool

� More information on choice

� Less ‘medical’

� Less ‘wordy’

SCT screening e-learning module

http://www.e-lfh.org.uk/latest-news/?#15183

Genetic Risk Assessment and Counselling Module 4 days

https://www1.kcl.ac.uk/teares/nmvc/external/prospectus/course_info.php?code=118

Haemoglobinopathies: an overview 1 day course https://cpdscreening.phe.org.uk/sct-

externaltraining

Specialist counselling update 1 day course

https://www1.kcl.ac.uk/teares/nmvc/external/prospectus/study_info.php?code=KSCTS_

RCGP elearning contract progressed scoping meeting for January