can we detect congenital abnormalities earlier in pregnancy

53 Pages·2012·1.46 MB·English

by  Nicola Arroll

The Quality and Safety Challenge 2012

Improving quality and safety in maternity services: can we
improve prevention, detection and management of
congenital abnormalities in pregnancy?

Professor Cindy Farquhar, Nicola Arroll, Dr Lynn Sadler, Professor Peter Stone
& Vicki Masson

PMMRC National Coordinator Services and the Department of Obstetrics and
Gynaecology, University of Auckland

i
Acknowledgements
We are grateful to the following groups and individuals for their assistance in the production
o f this report.

• The Quality and Safety Challenge 2012 for providing the funding for the project.

• The lead maternity carers, general practitioners and District Health Board staff for
providing the additional information.

• The ultrasound service providers, for supplying the ultrasound images.

• PMMRC national coordination service for providing guidance and assistance for
collecting the additional data.

• Senior sonographer Jenny Mitchell who contributed her time and knowledge.

• Dr Sue Belgrave, Dr Tom Gentles and Dr Nicola Austin who undertook the peer
review of the report.

Author contributions
• Professor Cindy Farquhar conceived and supervised the audit and provided revision

of the report.
• Nicola Arroll collected and assembled the data, contributed to the data analysis and

d rafting and editing of the report.
• Dr Lynn Sadler was involved in the design of the study, provided analysis and

i nterpretation of the data as well as revision of the report.
• Professor Peter Stone provided interpretation of the data and made contributions

t o the report.
• Vicki Masson was involved in the conception and design of the study and made

c ontributions to and revised the report.

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Executive summary and recommendations

The Perinatal and Maternal Mortality Review Committee (PMMRC) is responsible for
reviewing and reporting on all perinatal deaths with a view to reducing these deaths. The
data in this report relate to perinatal deaths from central nervous system, cardiovascular,
and chromosomal congenital abnormalities in 2010 identified from the PMMRC dataset. The
data only include deaths from 20 weeks gestation to 28 days after birth and therefore do
not include miscarriages or terminations of pregnancy prior to 20 weeks, or surviving infants
with these congenital abnormalities. It is an opportunistic dataset and likely includes all
such perinatal deaths. However, in the absence of a register of all pregnancies and babies
with congenital abnormalities it provides a “snapshot” of care to a group of mothers of
babies with congenital abnormalities in New Zealand at this time.

Key Findings
• First contact with a health professional in pregnancy was with a general practitioner
in the majority of cases. First contact occurred within ten weeks in 74% of cases and
within 14 weeks in 85%. However there was often a significant delay before booking
with a lead maternity carer (LMC).
• Folate supplements were documented as having been taken by 54% of women in the
antenatal period and by 7% prior to pregnancy.
• First or second trimester screening was offered to 75% of the women who
presented prior to the cut off for screening. Of those women offered screening, 84%
had some form of screening.
• The time from referral to review by a maternal fetal medicine (MFM) specialist was a
median of six days which is less than the week that is advised by the Maternal Fetal
Medicine Network (Health Point 2012).
• The time from decision for termination of pregnancy to the procedure was between
one and 12 days with a median of two days.
• Review of ultrasound images found some of the abnormalities could have been
detected earlier.
Recommendations for pre-conceptual care
All women should receive pre-conceptual counselling
• To optimise maternal health by identifying current medical conditions,
prescription medications, smoking, alcohol and drug use and BMI and
recommendation for pre-conceptual folate.
• Education on nutrition, smoking cessation, alcohol and drug avoidance.
• To identify risks including previous obstetric history, family history of congenital
abnormalities in either parent and refer appropriately.
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Folate use in women of reproductive age
• Media campaign for pre-conceptual folate.
• Investigate further evidence on fortification of bread with folate.
Recommendations for antenatal care
• Education of all women is required about the importance of booking before 10 weeks.

• As general practitioners are often the first point of contact for pregnant women, it is
essential that they are able to effectively offer
First trimester screening
o
Facilitate expeditious booking with an LMC.
o

• If screening has not already been arranged then LMCs should offer all women first and
second trimester screening, as required by the Ministry of Health since 2010, as this
strategy will enable early diagnosis of a proportion of congenital abnormalities.
Recommendations for screening programme

• Review the current algorithms used in New Zealand’s first and second trimester
screening programme which is calibrated for Trisomy 21, and consider the cost
benefit of using algorithms calibrated for maximal sensitivity for all chromosomal
abnormalities.
• Education for general practitioner and LMC regarding screening, counselling and
interpretation of results.
• Review the efficiency and adequacy of the program’s guidelines for reporting results
for nuchal translucency in a patient who has not had a serum sample taken to avoid
delays in reporting risk from the nuchal scan.
• False negative screening tests should be reviewed by the screening unit.
Recommendations for documentation
• All LMCs should document pre-conceptual folate and antenatal folate use including
when the woman commenced taking folate and the dose.
• LMCs must be encouraged to comply with the legal requirement to retain a copy of
the woman’s notes for ten years. This facilitates audit but is also important for
ongoing clinical care.
• Radiology services retain a copy of the ultrasound
• Ultrasound reports should be comprehensive, in particular meet the minimum
requirements of reporting.
Recommendations for ultrasound services
• Ultrasound services provided by radiology and obstetric services should audit their
images to ensure accurate measurements are obtained during scanning, in particular
during the nuchal translucency scan.
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• Provision of real time images to radiologists who specialise in obstetric ultrasound
and then referral to MFM service multidisciplinary teams to allow specialist review
of images in areas that do not have these services.

Recommendations for referral to specialist services
• Promote the current National Screening Unit referral guidelines regarding immediate
referral to specialist services.
• The National MFM Network should audit regularly time from referral to review in
their service to ensure that the majority of women are seen within 7 days as
recommended.
General recommendations
• Enhancement of the current birth defects register to include congenital
abnormalities where a perinatal death occurred.
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Table of contents
Acknowledgements i
Author contributions i
Executive summary and recommendations ii
1. Introduction 1
2. Methodology 2
2.1 Audit of ultrasound services 3
2.2 Definitions 4
3. Findings 6
3.1 Documentation 6
3.2 Demographic details and substance use 6
3.3 Pre-conceptual and early pregnancy 8
3.3.1 Early pregnancy care and booking 8
3.3.2 Folate use 8
3.3.3 Medication use during pregnancy 9
3.3.4 History of congenital abnormalities and counselling 10
3.3.5 Date of first ultrasound 10
3.4 First and second trimester screening 11
3.5 Anatomy scan 14
3.6 Abnormality not detected until after fetal death or after birth 14
3.7 Pathway to diagnosis following detection of a possible fetal abnormality 14
3.7.1 Potential delays in the pathway to diagnosis 15
3.7.2 Other factors causing potential delays in the pathway to diagnosis 18
3.8.1 Documentation in the ultrasound audit 18
3.8.2 Potential to be detected earlier on ultrasound 19
3.8.3 Quality of the ultrasound machines 20
3.8.4 General quality issues identified from the ultrasound images 20
3.8.5 Comparison between the ultrasound reports and the images 21
3.8.6 Audit of the basic points that should be included in the ultrasound reports 21
4. Discussion 23
4.1 Documentation 23
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4.2 Date of booking 24
4.3 Demographic and substance use 24
4.4 Folate use 24
4.5 Medication use during pregnancy 25
4.6 Pre-pregnancy and antenatal counselling 25
4.7 Date of first ultrasound 26
4.8 First trimester screening 26
4.9 Second trimester screening 27
4.10 Anatomy scan 27
4.11 Pathway following detection of a fetal abnormality 28
4.12 Potential to be detected earlier on ultrasound 28
4.13 Ultrasound audit findings 29
4.14 Strengths 29
4.15 Limitations 30
5. Recommendations from improving quality and safety in maternity services 31
5.1 Recommendations for pre-conceptual care 31
5.1.1 All women should receive pre-conceptual counselling 31
5.1.2 Folate use in women of reproductive age 32
5.2 Recommendations for antenatal care 33
5.3 Recommendations for screening programme 34
5.4 Recommendations for documentation 35
5.5 Recommendations for ultrasound services 36
5.6 Recommendations for referral to specialist services 37
5.7 General recommendations 38
General advice for women 39
Appendices 40
List of Abbreviations 43
Bibliography 44

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List of Figures
Figure 1: Definitions of perinatal and infant mortality .............................................................. 2
Figure 2: Pregnancy pathway for detecting fetal abnormalities ............................................... 7
Figure 3: Scatter plot of gestation at first health professional visit and gestation at booking . 8
Figure 4: Date of first ultrasound in index pregnancy ............................................................. 11
Figure 5: Outcomes of first and second trimester nuchal translucency and serum screening
among perinatal related deaths from congenital abnormalities 2010 ................................... 13
Figure 6: Box plot of time from referral to being seen by MFM and Obstetrician ................. 15
Figure 7: Pregnancy pathway after fetal abnormality is suspected ........................................ 16
Figure 8: Gestation at confirmation of diagnosis by screening status among screen
detectable congenital abnormality deaths .............................................................................. 17
Figure 9: Gestation offered termination (if termination offered) by screening status among
women whose babies had screen detectable congenital abnormalities. ............................... 17

List of Tables
Table 1: Maternal demographic data and substance use ......................................................... 6
Table 2: Folate use pre-conceptually and antenatally ............................................................... 9
Table 3: Table of history of congenital abnormality and counselling received ....................... 10
Table 4: First and second trimester screening results by congenital abnormality group ....... 12
Table 5: Days between steps in the pregnancy pathway after fetal abnormality suspected . 15
Table 6: Outcome of the ultrasound image review ................................................................. 19
Table 7: Quality of the ultrasound machines used .................................................................. 20
Table 8: Comparison between the ultrasound images and the reports ................................. 21
Table 9: Audit of quality of ultrasound reports ....................................................................... 22
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1. Introduction

In 2010 in New Zealand there were 704 perinatal deaths, 211 (30%) were due to congenital
abnormalities. The Perinatal and Maternal Mortality Review Committee (PMMRC) has been
charged with reducing perinatal mortality. Given that such a large proportion of perinatal
deaths are the result of congenital abnormalities, it was considered important to review the
care of mothers of babies with congenital abnormalities in order to assess the potential to
reduce perinatal deaths from this cause. Deaths from congenital abnormality could be
reduced in two ways; firstly by preventing lethal congenital abnormalities, and secondly, by
detecting them as early as possible to facilitate earlier discussion of options of care. Further,
there is potential improvement of postnatal care for babies with non-lethal congenital
abnormalities from earlier diagnosis.
Antenatal screening has been available in New Zealand since 1968 and was based on
offering amniocentesis to pregnant women aged over 35 (National Screening Unit 2009).
Although the woman’s age combined with amniocentesis continued to be a commonly used
screening tool, pregnant women began to be offered blood tests and nuchal translucency
scans in the late 1990s. In 2008 an ultrasound scan and blood test between 11 and 13 weeks
gestation became the recommended screening combination. For women who were unable
to access the first trimester screening a second trimester blood test between 14 and 20
weeks was also available. The first and second trimester screening risk estimates are
primarily calibrated to identify an increased risk of Trisomy 21, it will in some cases identify
other Trisomies and sex linked chromosomal abnormalities. The second trimester blood test
will can also potentially identify open neural tube defects (NTDs). All women regardless of
what screening they have had are eligible for an anatomy ultrasound scan at 20 weeks,
where the fetal anatomy is checked for abnormalities.
The screening programme and the anatomy scan should allow abnormalities to be identified
early on in the pregnancy. Early detection gives parents options for treatment and allows
children with additional needs or who require surgery to be born in centres where these
services are provided. Early detection might also reduce the number of late terminations of
pregnancy (after 20 weeks gestation) by providing parents with information about diagnosis
and prognosis earlier in pregnancy. Late terminations are associated with increased risks to
the mother including blood loss requiring transfusion and unplanned surgical removal of the
placenta (Royal College of Obstetricians and Gynaecologists 2004). Furthermore,
termination of pregnancy at this late stage of the pregnancy is associated with greater
maternal distress. It also is associated with a requirement for statutory registration of death
with the financial and emotional costs that may be associated with this for some parents.
It was hypothesised that a number of congenital abnormalities could have been prevented if
folate had been taken before pregnancy and by avoiding potentially harmful medications in
the first trimester. It was also hypothesised that a number of chromosomal and NTD
abnormalities could be detected earlier by undergoing antenatal screening in the first or
second trimester. This project aimed to audit the quality of maternity care in women with
perinatal deaths due to a congenital cardiovascular, central nervous system or chromosomal
abnormality.
1
The specific objectives were to:
i. Review booking and early pregnancy care including counselling for specific
conditions, folate use, medication use and timing of first and booking visits.
ii. Review first and second trimester screening uptake and findings.
iii. Review the ultrasound detection of fetal abnormalities and the quality of the
reports
iv. Review timing of follow up after screening including after anatomy scan
v. Consider the delays in the pregnancy pathway.

1. Methodology
Perinatal deaths from congenital cardiovascular, central nervous system or chromosomal
abnormality during 2010 were identified from the PMMRC dataset. The PMMRC dataset of
perinatal deaths is a compilation of data submitted by the Lead Maternity Carers (LMCs),
clinicians, PMMRC DHB local coordinators, death notifications and some additional data
from Births, Deaths and Marriages (BDM).
The perinatal deaths presented in this report occurred between 1 January and 31 December
2010. For fetal deaths, the date of birth is used as ‘date of death’. For neonatal deaths, the
actual date of death is used. Only babies who died from 20 weeks gestation up to 27 days
after birth are included in this audit (as shown in the non-shaded parts of Figure 1 .
The classification system for cause of death that has been adopted by the PMMRC is the
)
Perinatal Society of Australia and New Zealand (PSANZ) system of classification (PSANZ
2009). This system includes both perinatal and neonatal classifications. The PSANZ system of
classification is hierarchical and congenital abnormalities being Category 1 take precedence
over other categories. Perinatal deaths included in this audit were classified as central
nervous system (PDC 1.1), cardiovascular (PDC 1.2) or chromosomal abnormalities (PDC
1.5).

Gestation Birth 7 days 28 days 1 year

20 weeks or more
or 0<7 days 7–27 days 28 days–<1 year
400 grams
birthweight
Early Late

Fetal deaths Neonatal Neonatal Post-neonatal
deaths deaths deaths

Perinatal deaths

Perinatal related deaths
Neonatal deaths
Infant deaths

Figure 1: Definitions of perinatal and infant mortality
2