THE PRENATAL FIX

To produce gender-normal children, some medical scientists have turned to prenatal therapy. Biotechnology has already changed the human race. We have, for example, used amniocentesis and selective abortion to lower the frequency of Down Syndrome births, and in some parts of the world we have even altered the sex ratio by selectively aborting female fetuses,26 and now both the sonogram and amniotic testing of pregnant women can detect signs of the baby’s gender as well as a wide variety of developmental problems.27 Most types of intersexuality cannot be changed by prenatal interventions, but one of the most frequent kinds—CAH—can. Is this a good thing? How might the elimination of a major cause of genital ambiguity affect our understanding of ‘‘that which qualifies a body for life within the domain of cultural intelligi­bility’’?28

The genes that cause CAH are well characterized, and several approaches to detecting their presence in the embryo now exist.29 A woman who suspects she may be pregnant with a CAH baby (if she or someone in her family carries CAH) can undergo treatment and then get tested. I put it in that order, be­cause to prevent masculinization of an XX-CAH child’s genitalia, treatment (with a steroid called dexamethasone) must begin as early as four weeks after conception.30 The earliest methods for diagnosis, however, can’t be used until the ninth week.31 For every eight fetuses treated for CAH, only one will actu­ally turn out to be an XX child with masculinized genitals32. If it turns out that the fetus is a male (physicians are not worried about male masculiniza — tion—you can never, apparently be too masculine)33 or does not have CAH, treatment can be discontinued.34 If, however, the fetus is XX and is affected by CAH, the mother and fetus continue dexamethasone treatment for the duration of the pregnancy.35

It might sound like a good idea, but the data are slim. One study compared seven untreated CAH girls (born with masculinized genitals) with their pre­natally treated sisters. Three were born with completely female genitals, while four were only mildly masculinized compared with their siblings.36 An­other study of five CAH girls reported considerably more feminine genital development.37 In medicine, however, everything has a price. The diagnostic tests38 stand a i to 2 percent chance of inducing miscarriage, and the treat­ment produces side effects in both mother and child: mothers may retain flu­ids, gain a lot of extra weight, develop hypertension and diabetes, have in­creased and permanent scarring along abdominal stretch lines, grow extra facial hair, and become more emotional. ‘‘The effect on fetal ‘metabolism’ is not known,’’39 but one recent study reports negative effects such as failure to thrive and delayed psychomotor development. Another research group found that prenatal dexamethasone treatment may cause a variety of behavioral problems, including increased shyness, less sociability, and greater emo — tionality.40

Today many still do not advocate such treatment because ‘‘the safety of this experimental therapy has not been established in rigorously controlled trials.’’41 On the other hand, prenatal diagnosis allows physicians to recognize the metabolic alterations and begin treatment at birth. Early and continuous treatment can prevent possible salt-wasting crises (which endanger the child’s life) and address other CAH-related problems, such as premature growth stoppage and extremely early puberty. This also benefits XY CAH kids, since they still have the metabolic problems, even if their genitals are fine. Finally, genital surgery on XX CAH children can be eliminated or minimized.

Parents have given prenatal therapy mixed reviews. In one study of 176 pregnancies, ioi parents accepted prenatal treatment after being apprised of the pros and cons, while seventy-five refused the treatment. Fifteen of the seventy-five had CAH fetuses (eight XX and seven XY), and parents chose to abort three of the untreated XX fetuses.42 In another study, researchers sur­veyed 38 mothers’ attitudes after experiencing treatment. Although each woman had severe side effects and was concerned about the possible short — and long-term effects of dexamethasone on her child and herself, each said she would do it again to avoid giving birth to a girl with masculine genitals.43

Prenatal diagnosis seems warranted because it can prepare physicians and parents alike for the birth of a child whose chronic medical problems will demand early hormonal treatment. Whether prenatal therapy is ready for prime time is another question. To put it starkly: Are seven unnecessary treat­ments, with their attendant side effects worth one less virilized girl child? If you believe that virilization requires extensive reconstructive surgery in order to avoid damage to the child’s mental health, the answer will probably be yes.44 If, however, you believe that many of the surgeries on CAH children are unnecessary, then the answer might well be no. Perhaps compromises are possible. If one could lessen the side effects of dexamethasone treatment by limiting it to the period of initial genital formation, this would probably alle­viate the most severe genital problems, such as fusion of the labia, but might not halt clitoral enlargement. Surgeries involving fused labia and reconstruc­tion of the urogenital sinus are complex, not always successful, and essential if the affected individual wants to bear children. All other things being equal, it would seem best to avoid such surgery. As I argue in the rest of this chapter and the next, however, downsizing an overgrown clitoris is simply not nec­essary.

Updated: 05.11.2015 — 10:45