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Parental attitudes: antenatal diagnosis of cystic fibrosis
  1. J C Polnay1,
  2. A Davidge1,
  3. Chin Lyn U2,
  4. A R Smyth1
  1. 1Children and Young Persons CF Unit, Nottingham City Hospital, Nottingham, UK
  2. 2Division of Psychiatry, School of Community Health Sciences, University of Nottingham, Nottingham, UK
  1. Correspondence to:
    Dr J C Polnay, Associate Specialist in Paediatrics, Children and Young Persons CF Unit, Nottingham City Hospital, Hucknall Road, Nottingham NG5 1PB, UK;
    janetpolnay{at}hotmail.com

Abstract

In order to understand attitudes to antenatal diagnosis of cystic fibrosis (CF), we interviewed parents from 19 families, who already had one child with CF. Nine women had chorion villus sampling in a subsequent pregnancy and 6/19 said they would consider termination of pregnancy if the result confirmed CF. These results differ from the results of antenatal screening studies of previously unaffected families, where most couples opt for termination.

  • cystic fibrosis
  • antenatal diagnosis
  • CF, cystic fibrosis
  • CVS, chorion villus sampling
  • IVF, in vitro fertilisation
  • TOP, termination of pregnancy

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Cystic fibrosis (CF) is the most common autosomal recessive disorder among whites (carrier prevalence 1/25). Carriers can be detected using DNA analysis on mouthwash samples, thus enabling high risk pregnancies to be tested using chorion villus sampling (CVS). CVS can also be offered to families who already have one child with CF. However, the interest shown in antenatal diagnosis by parents seems to vary between countries,1–3 and in some instances has been shown to be very low.1,4 There are also differences in the attitudes of parents who already have a child with CF, compared to those who do not have first hand experience of CF.2,5 This issue is important in view of the burden of care, morbidity of the condition, and the understandable distress of parents when given the diagnosis of CF in their child. No recent study of this issue has been carried out in the UK.

Our study aimed to:

  1. Evaluate the usefulness of antenatal screening by documenting reproductive decisions.

  2. Evaluate parents’ understanding of CF, to determine whether their reproductive decisions were truly informed.

  3. Assess whether all parents, who wished it, had received genetic counselling.

SUBJECTS AND METHODS

We examined the attitudes of 19 families (they already had one child with CF and a further pregnancy since 1996) at the Children and Young Person’s CF centre in Nottingham (UK). A brief, investigator administered questionnaire comprising open and closed questions (see table 1) was used. The study period was 1999–2000.

Table 1

Questionnaire with results

Enrolment was by letter, followed up by a telephone call, to the 27 families in the initial sample. Interviews were arranged with those who agreed to participate (n = 19). This included two families, both of whom had in vitro fertilisation (IVF) (using screened donor sperm) for a second pregnancy (having had one child with CF), and one family in which one parent had CF and was embarking on a first pregnancy. Although not strictly fitting the criteria, it was felt that these families’ experience of CF would be useful.

Thematic analysis of qualitative questionnaire responses was undertaken by the investigators independently, noting recurring words, phrases, and themes. SPSS for Windows version 8 was used to analyse the data.

Consent was confirmed in writing and approval was obtained from the local research ethics committee.

RESULTS

Table 1 presents full responses. “Strongly agree” and “agree” responses were combined, as were “strongly disagree” and “disagree”.

Nine families had chorion villus sampling (CVS), six indicating they would have a termination of pregnancy (TOP) if the test was positive. Five wished to know whether the baby was affected to give them time to prepare, and two wanted to know if the baby was a carrier. Of the 10 families who opted not to have CVS, two had IVF with screened donor sperm, and seven did not agree with termination, feeling that it would devalue the life of their child with CF. Six said the risk of miscarriage discouraged them from having CVS. Five of these six also felt that termination would devalue the life of their child with CF and would not have a TOP.

Of the eight who refused CVS (excluding the two IVF participants), seven correctly estimated the probability of having another child with CF.

Fourteen couples remembered being offered genetic counselling after the birth of their first child, one could not remember, and four said they had not been offered counselling. Of the 14 who remembered the offer of counselling, five refused this facility, feeling it was not relevant (n = 4) or too much to take in at the time (n = 1). Fifteen families did not discuss the second pregnancy with the CF team, giving a variety of reasons (see table 2) such as: already decided to have CVS (n = 3), felt they knew the options (n = 3), felt they might be dissuaded from continuing the pregnancy (n = 1), and concerned how the team would view a TOP (n = 1). Eight families felt the genetics team approved of TOP. The thematic analysis showed the wide range of feelings held by these families (table 2).

Table 2

Thematic analysis

DISCUSSION

Although this is a small sample, we obtained detailed qualitative information. The views of the eight families that refused consent could not be explored, a problem inherent in qualitative research.

Of particular interest is the contrast of attitudes when diagnosis is detected for the first time in an antenatal screening situation, where in one large study5 only 24% of parents did not wish to be screened, and all fetuses diagnosed with CF were terminated.

The results do seem to vary in this study from those found elsewhere.1–4 However, this may be a result of the fact that some of these studies were done some time ago and in different countries.

Conclusion

Although only 6/19 couples, who already had a child with CF, said they would have a TOP if the fetus was affected, access to antenatal diagnosis was deemed essential by half the sample. Some parents said they would not have embarked on a further pregnancy if CVS was not available. However, several parents felt that even if they knew that their subsequent pregnancy was affected, they would not have a TOP, as it would be devaluing the life of the child they already had. The need for professionals to remain non-judgemental is reinforced.

REFERENCES

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