Prenatal diagnoses of sex chromosome conditions

Women who receive a prenatal diagnosis of a chromosome abnormality remember the circumstances precisely. Years later they recall the exact words used to deliver the news, and many regret the manner in which they were told.¹ They read between the lines messages that their fetus is no longer worthy of life and that their feelings about the pregnancy are not important. A test result showing that a fetus has a chromosomal difference leaves women and their partners with a permanent and life altering decision whether or not to continue the pregnancy. What do women and their partners need to make a decision that they can accept for the rest of their lives? How can healthcare providers best help them? A paper in this week's journal represents a first attempt at understanding this process (p 463),² with disturbing results.

Prenatal testing for chromosomal conditions has been offered in industrialised nations since the 1970s. Yet little research has been done on pretest counselling, the communication of abnormal results, their impact on parents' decision making, or the long term outcomes of such decisions. Prenatal genetic counselling is provided by several different healthcare providers, including genetic counsellors, obstetric nurses, obstetricians, and maternal-fetal medicine specialists. In the United States practice is widely variable.³ Often prenatal testing (amniocentesis or chorionic villus sampling) is performed without prenatal counselling, leaving women and their partners ill prepared for an unexpected finding. Guidelines for prenatal testing have been issued by the American College of Obstetrics and Gynecology, but no practice standards exist in the US for prenatal testing education and counselling.⁴ Abramsky et al's paper suggests this is also so in the United Kingdom.²

Abramsky et al performed a pilot study into the way that news is delivered to parents about a fetus discovered on prenatal testing to have a sex chromosome abnormality. They showed that often little or inaccurate information was provided.² They studied one of the most ambivalent categories of prenatal diagnosis: healthcare providers know little about sex chromosome abnormalities, the literature is often out of date and conflicting, and women and their partners less often choose to terminate pregnancies.⁵,⁶ Accurate descriptions of sex chromosome differences are critical, the decisions potentially regrettable, and the long term outcomes devastating if a termination is based on the misinformation, for instance, that any of these conditions is comparable to Down's syndrome.² Providers are obliged to obtain useful up to date information and to ensure parents have adequate opportunity to consider their decision with the help of an experienced healthcare provider, preferably in medical genetics. The authors call for adherence to published guidelines yet do not elaborate on the important additional needs of women and their partners during such crises.

Even with accurate information about a chromosomal finding, there are many challenges. Though a diagnosis of Down's syndrome (trisomy 21) or a sex chromosome finding (Turner's or Klinefelter's syndrome) may be relatively certain, questions remain about how the child will be affected. A child with Down's syndrome born with a severe cardiac abnormality has a different prognosis from one whose heart is unaffected. A girl with Turner's syndrome who is a bit short but otherwise appears normal may have a different life experience from one who is teased relentlessly for her appearance and takes the social stigmatisation to represent her self worth. Healthcare providers can offer descriptions of populations of affected individuals, but no crystal ball exists for that particular fetus. In a recent study parents of children with a rare condition, holoprosencephaly, consistently wanted healthcare providers to be honest about what they don't know and can't predict about the ultimate outcome of an affected pregnancy.⁷

Patients differ in the information they need about the condition. Further, how that information is best imparted and how women and their partners use the information when making a decision are all important to understand. Reproductive decisions are complex and multifaceted, and information is only one component in the decision making process.⁸

Though little empirical data show how reproductive decisions are made, clinical practice and theoretical models of other healthcare related decisions suggest that they are influenced by women's values and beliefs and their hopes and dreams for the future baby and family.¹,⁸,⁹ In particular, attitudes toward abortion, desires for biological children, religious beliefs, attitudes toward disability and human variation, and social norms about prenatal testing outcomes are likely influences. So too are practical issues such as money and social support. Thus, healthcare providers have an obligation to explore the meaning the information has for women and their partners to help decision making. If this is not within their expertise they should refer patients to a genetic counsellor, nurse, or medical geneticist who can facilitate such decisions.

One of the hardest challenges in helping parents is the crisis that typically follows a prenatal diagnosis. If the woman and her partner are unprepared for the possibility, they may react strongly and “shut down” emotionally. It is all but impossible to engage such patients in a decision making process. Research involving those in crises suggests that providers should not attempt to challenge defence mechanisms but rather to work within them.¹⁰ Individuals under stress may become hypervigilant, making rapid and ill considered (and later regretted) decisions as an escape from the psychological distress.¹¹ Typical counselling interventions are less likely to be effective, so ideally healthcare providers should have experience facilitating decisions during crises.

Patients suffer a loss when they receive a prenatal diagnosis about their fetus. The loss is often not of the fetus that comes to carry the diagnosis but of the fetus the parents hoped they carried. This grief is profound yet does not preclude a woman's ability to welcome an affected fetus into the world. Others, including healthcare providers, may interpret this grief as rejection of the affected fetus. Women have been articulate about their resentment of such assumptions.¹ Often the grief represents a readjustment of expectations, and women who experience this loss appreciate those who accept it as part of adjustment and do not conclude from it unwillingness to continue the pregnancy.

All women who receive a prenatal diagnosis suffer loss, regardless of their ultimate decision. During this crisis they deserve not only accurate information but also healthcare providers who convey respect, honesty, and compassion rather than those who provide swift answers or ill informed suggestions about whether or not to continue the pregnancy.

Papers p 463