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Termination rates after prenatal diagnosis of Down syndrome, spina bifida,

anencephaly, and Turner and Klinefelter syndromes: a systematic literature
review. European Concerted Act...

Article  in  Prenatal Diagnosis · October 1999

DOI: 10.1002/(SICI)1097-0223(199909)19:9<808::AID-PD637>3.3.CO;2-2 · Source: PubMed

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  
Prenat. Diagn. 19: 808–812 (1999)

Termination Rates After Prenatal Diagnosis of Down

Syndrome, Spina Bifida, Anencephaly, and Turner and
Klinefelter Syndromes: A Systematic Literature Review
Caroline Mansfield, Suellen Hopfer and Theresa M. Marteau* on behalf of a European Concerted Action: DADA
(Decision-making After the Diagnosis of a fetal Abnormality)†
Psychology and Genetics Research Group, Guy’s, King’s and St Thomas’ Medical School (King’s College), Guy’s Campus,
London, SE1 9RT, UK

The aims of this systematic literature review are to estimate termination rates after prenatal diagnosis of one
of five conditions: Down syndrome, spina bifida, anencephaly, and Turner and Klinefelter syndromes, and
to determine the extent to which rates vary across conditions and with year of publication. Papers were
included if they reported (i) numbers of prenatally diagnosed conditions that were terminated, (ii) at least
five cases diagnosed with one of the five specified conditions, and (iii) were published between 1980 and 1998.
20 papers were found which met the inclusion criteria. Termination rates varied across conditions. They were
highest following a prenatal diagnosis of Down syndrome (92 per cent; CI: 91 per cent to 93 per cent) and
lowest following diagnosis of Klinefelter syndrome (58 per cent; CI: 50 per cent to 66 per cent). Where
comparisons could be made, termination rates were similar in the 1990s to those reported in the 1980s.
Copyright  1999 John Wiley & Sons, Ltd.
 : Down syndrome; Klinefelter syndrome; spina bifida; anencephaly; Turner syndrome; prenatal
diagnosis; termination

INTRODUCTION been single studies from single countries, often from

Many studies have been published documenting ter- just one centre. While there do exist a number of
mination rates following the diagnosis of different population-based registers recording termination rates
types of fetal abnormalities, but these have most often across geographical regions within a country (such as
The Northern Region Congenital Malformations
*Correspondence to: T. M. Marteau, Psychology and Genetics
Register, in the UK) or across countries (such as
Research Group, Guy’s, King’s and St Thomas’ Medical School EUROCAT) these data rarely are published, thus
(King’s College), Guy’s Campus, London, SE1 9RT, UK. precluding unbiased ascertainment of all registers.
E-mail: [email protected] There has, to our knowledge, been no attempt to
†Membership (in alphabetical order): summarize published findings systematically. Varia-
Ségolène Aymé, INSERM SC11 ‘Gene Mapping and Clinical bility across conditions has been shown in published
Research’, 16 Avenue Paul Vaillant-Couturier, 94807 Villejuif
Cedex, France.
series from single centres (e.g. Pryde et al. (1993)). Such
Martin Bobrow, Department of Medical Genetics, Box 238,
Addenbrooke’s Hospital, Hills Road, Cambridge, CB2 2QQ, UK. Peter Miny, Universitätskinderklinik, Römergasse 8, 4005 Basel,
Alan Cameron, Department of Obstetrics and Gynaecology, Switzerland.
Glasgow University, The Queen Mother’s Hospital, Yorkhill, Irmgard Nippert, Institüt für Humangenetik, Medizinische Fakultät
Glasgow G3 8SJ, UK. der Westfälische Wilhelms-Universität Münster, Vesaliusweg
Martina Cornel, Department of Medical Genetics, University of 12–14, 4400 Münster, Germany.
Groningen, Ant. Duesinglaan 4, 9713 AW Groningen, The Margaret Reid, Department of Public Health, University of
Netherlands. Glasgow, 2 Lilybank Gardens, Glasgow G12 8RZ, UK.
Maria Feijóo, Servico de Genetica, Hospital de Egas Moniz, Rua Maria Soares, Servico de Genetica, Hospital de Egas Moniz, Rua da
da Junqueira 126, 1300 Lisbon, Portugal. Junqueira 126, 1300 Lisbon, Portugal.
Sixto Garcı́a-Miñaur, Registro de Anomalias Congenitas de la CAV, Peter Soothill, Department of Fetal Medicine, St Michael’s Hospital,
Clinica Materno-Infantil, Hospital de Cruces. E-48903 Baracaldo, Bristol BS2 8EG, UK.
Spain. Tjeerd Tymstra, Health Sciences Department, University of
Janine Goujard, Director of the EUROCAT Registry of Paris, Groningen, Ant. Deusinglaan 1, 9713 AV Groningen, The
INSERM U 149, 123 Avenue de Port-Royal, 75014 Paris, Netherlands.
France. Mariet van Diem, Department of Obstetrics and Gynaecology,
Donna Kirwan, Fetal Centre, Liverpool Women’s Hospital NHS Academic Hospital Groningen, Postbox 30 001, NL-9700 RB
Trust, Liverpool L8 7SS, UK. Groningen, The Netherlands.
Patrick Leurquin, EUROCAT Central Registry, Institut d’hygiene Corien Verschuuren, Department of Medical Genetics, University
et d’epidemiologie, Rue Juliette Wytsman 14, B-1050 Brussels, of Groningen, Ant. Deusinglaan 4, 9713 AW Groningen, The
Belgium. Netherlands.
Frank Louven, Department of Obstetrics and Gynaecology, West- Stephen Walkinshaw, Fetal Centre, Liverpool Women’s Hospital
fälische Wilhelms-Universität Münster, Vesaliusweg 12–14, 4400 NHS Trust, Liverpool L8 7SS, UK.
Münster, Germany.
Karen McIntosh, Department of Obstetrics and Gynaecology, Contract/grant sponsor: European Union; Contract/grant number:
Glasgow University, The Queen Mother’s Hospital, Yorkhill, BioMed II programme.
Glasgow G3 8SJ, UK. Contract/grant sponsor: Wellcome Trust.

CCC 0197–3851/99/090808–05$17.50 Received 30 November 1998

Copyright  1999 John Wiley & Sons, Ltd. Revised 18 March 1999
Accepted 30 March 1999
 TERMINATION RATES AFTER PRENATAL DIAGNOSIS 809

series, however, rarely provide sufficiently large sample termination rates was reached in all cases by two raters
sizes to enable reliable estimations of termination rates. (CM and SH or TMM).
Data pooled across studies could also be used to
examine the extent to which termination rates for Statistical analyses
particular conditions may be changing over time.
The aims of this systematic literature review are to Chi-square tests were used to test for associations
describe termination rates for five conditions: Down between termination rates and (i) condition diagnosed,
syndrome, spina bifida, anencephaly, and Turner and and (ii) year of publication.
Klinefelter syndromes, and to determine the extent to
which they vary across conditions and year of publi-
cation. The conditions were chosen to comprise the
more common prenatally diagnosed conditions, and RESULTS
to reflect a range in terms of severity and type of
disability, ranging from a lethal condition (anen- 20 papers were identified which met the inclusion
cephaly) to one compatible with an average life expect- criteria. Details of each of these are presented in the
ancy (Klinefelter syndrome). They also ranged in terms Appendix. Altogether, these papers included 37 data
of public awareness of the condition, from conditions sets from 11 different countries.
that much of the public are familiar with, such as
Down syndrome, to ones that are largely unfamiliar, Condition
such as Klinefelter syndrome.
Termination rates varied across conditions (Chi
square=269; df=4; p<0.0001). The largest proportion
of pregnancies was terminated for Down syndrome;
METHOD the smallest proportion of pregnancies was terminated
for Klinefelter syndrome (Table 1).
Selection criteria
Time
Papers were included in the systematic review if they
met the following criteria: The number of papers published in each year was
insufficient to allow analysis based upon annual rates.
(i) The number of women who had been diagnosed Rates in papers published in the 1980s were therefore
with a fetal abnormality and the number of compared with those published in the 1990s (Table 2).
these women who terminated their pregnancies Statistical comparisons were not made for neural tube
were both reported. defects given that confidence intervals could not be
(ii) The fetal abnormality was one of the following calculated for this condition from papers published in
five: (i) Down syndrome; (ii) spina bifida, (iii) the 1980s. For Down syndrome and Turner and
anencephaly; (iv) Turner syndrome or (v) Klinefelter syndromes there was no difference in the
Klinefelter syndrome. rates of termination in 1980 compared with series
(iii) A minimum of five cases involving a particular reported in the 1990s.
diagnosis were reported.

Search strategy DISCUSSION

The following strategies were used: Termination rates varied across conditions. They were
(i) searching computerized databases of psy- highest following a prenatal diagnosis of Down syn-
cINFO, Medline and Bath Information and drome and lowest following diagnosis of Klinefelter
Data Services (BIDS) Embase using the follow- syndrome. Where comparisons could be made, termin-
ing MeSH headings: abortion, prenatal diag- ation rates were similar in the 1990s compared with
nosis, chromosome abnormalities and neural those reported in the 1980s.
tube defects; Before discussing the possible explanations for these
(ii) references drawn from previously obtained findings, it is necessary to consider what termination
papers; rates reflect. It seems likely that they reflect a myriad of
(iii) consultation with health professionals in the factors which may differ for different conditions,
UK, Europe and the US with known expertise including the way tests are initially offered and to
in the area under review. whom. They will also reflect values of the women
undergoing tests as well as those of the health profes-
sionals providing any counselling. Thus, high rates
Data extraction might reflect thorough counselling and systematic
decision-making before a diagnostic test is undergone,
Data relating to termination rates were transferred with all those not inclined to terminate a pregnancy
onto a data extraction sheet. Agreement concerning affected by the condition being tested for, declining

Copyright  1999 John Wiley & Sons, Ltd. Prenat. Diagn. 19: 808–812 (1999)
810 C. MANSFIELD ET AL.

Table 1—Systematic literature review based on 20 studies of trisomy 21, spina bifida, anencephaly and sex chromosome
anomalies

Total Total
Study Year of numbers percentage Confidence
numbera study terminating Country terminating intervals

Trisomy 21 1 1998 4438/4824 UK 92% 92%–93%

3 1992 6/6 New Zealand 100% —
10 1995 76/76 France 100% —
13 1990 5/5 UK (NI) 100% —
20 1992 4/5 Singapore 80% 62%–98%
2 1985 42/43 US 98% 96%–100%
19 1988 13/15 US 87% 78%–96%
17 1982 14/14 UK 100% —
18 1990 20/28 France 71% 62%–80%
5 1980 18/19 US 95% 90%–100%
4636/5035 92% 92%–93%
Spina bifida 7 1991 73/119 UK 61% 57%–65%
7 1991 1/5 Belgium 20% 2%–38%
7 1991 38/60 France 63% 53%–73%
7 1991 4/5 Italy 80% 62%–98%
11 1987 6/6 US 100% —
15 1995 9/9 US 100% —
131/204 64% 61%–67%
Anencephaly 7 1991 163/208 UK 78% 75%–81%
7 1991 15/16 Belgium 94% 88%–100%
7 1991 4/5 Denmark 80% 62%–98%
7 1991 9/16 Holland 56% 44%–68%
7 1991 82/87 France 94% 92%–97%
7 1991 15/15 Italy 100% —
15 1995 18/18 US 100% —
306/365 84% 82%–86%
Turner syndrome 4 1989 5/7 UK 71% 54%–88%
9 1987 6/6 UK and Finland 100% —
16 1989 4/9 US 44% 27%–61%
19 1988 35/47 US 74% 68%–80%
8 1996 71/100 Denmark 71% 66%–76%
14 1984 5/7 Denmark 71% 54%–88%
126/176 72% 69%–75%
Klinefelter syndrome 2 1985 5/8 US 63% 46%–80%
4 1989 4/11 UK 36% 22%–51%
9 1987 10/15 UK and Finland 67% 55%–79%
16 1989 34/75 US 45% 39%–51%
19 1988 3/5 US 60% 38%–82%
6 1982 3/5 Australia 60% 38%–82%
12 1984 23/25 German 92% 87%–97%
14 1984 9/12 Denmark 75% 63%–88%
91/156 58% 54%–62%

a
See Appendix.

testing. Alternatively, they may reflect directive coun- birth to a child with serious cognitive impairments
selling from health professionals putting pressure on (Faden et al., 1987; Drake et al., 1996). The lower rates
women to undergo a termination. Clearly the results of for Klinefelter syndrome reflect the greater tolerance
this review cannot address this. It is, however, import- for giving birth to a child with relatively minor physical
ant to avoid evaluating rates that are high or low as and cognitive impairments and the fact that this is a
good or bad. chance finding. There is a greater range of severity
The results of this review confirm results from amongst spina bifida and Turner syndrome than for
smaller series in showing that termination rates vary Down and Klinefelter syndromes. As severity of these
across conditions (Pryde et al., 1993; Drugan et al., diagnoses was not reliably reported in published series,
1990; Hassed et al., 1993). The high rates for Down it is difficult to comment upon how terminations may
syndrome reflect the negative attitudes towards giving reflect severity of the diagnosed condition. In addition

Copyright  1999 John Wiley & Sons, Ltd. Prenat. Diagn. 19: 808–812 (1999)
 TERMINATION RATES AFTER PRENATAL DIAGNOSIS 811

Table 2—Termination rates (95 per cent CI) following prenatal diagnosis by year of publication

Down Spina Turner Klinefelter

syndrome bifida Anencephaly syndrome syndrome

1980s (study numbers: 2, 4, 5, 6, 9, 11, 12, 14, 16, 17, 19)a

Numbers diagnosed and terminated 87/91 9/9 0/0 55/76 91/156
Termination rates (95 per cent CI) 96% 100% 0% 72% 58%
(92–100%) (62–82%) (50–66%)
1990s (study numbers: 1, 3, 7, 8, 10, 13, 15, 18, 20)a
Numbers diagnosed and terminated 4549/4944 139/208 306/365 71/100 0/0
Termination rates (95 per cent CI) 92% 67% 84% 71% 0%
(91–93%) (61–73%) (80–88%) (62–80%)

a
See Appendix.

to severity, many other factors seem to affect decisions gram of New York City III: the first 7,000 cases.
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H, Breit R (eds) Klinefelter’s syndrome. Berlin: 

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