Genetic Disorders and the Fetus. Группа авторов

intellectually deficient child, the physician should explore the consequences for the interrelationships of the couple, the effects on their other children, the suffering of the affected child, the possible social stigma,²¹⁹ and the economic and other societal implications, as well as the need for contraception. Some may feel that the economic burden of a defective offspring on society should at least be mentioned as part of a comprehensive view of all issues being considered. However, our concern is for the individual, whose priorities, needs, and choices remain paramount. In the physician/counselor–patient relationship, concern for the individual should always override consideration of the needs of society. Many avenues exist for society to influence the actions of its citizens. In genetic counseling, the role of the physician/counselor is not that of an advocate for society.

      A couple may elect to have an amniocentesis that is indeed indicated without making a commitment to pregnancy termination if the fetus is found to be abnormal. Some may deny such couples the opportunity for prenatal genetic studies. All couples have a right to have information about their fetus and prenatal diagnosis is a fundamentally reassuring technique. More than 95 percent of such couples do not need to consider elective abortion. The few who are initially ambivalent almost invariably move to terminate the pregnancy after the detection of a serious fetal defect. Nevertheless, abortion may be declined after the prenatal diagnosis of lethal or severe disorders such as anencephaly or trisomy 13. O'Connell et al. have described the profoundly emotional journey and the adaptive grieving process of four mothers who, after prenatal diagnoses of anencephaly, continued their pregnancies to delivery.²⁹⁶ Concern for the individual includes providing ambivalent couples with the opportunity for reassurance or the choice to decline abortion with preparation for the consequences. Moreover, opportunities to save their offspring's life, or at least to improve the outcome, now exist in specific circumstances (see Chapters 29 and 30). The availability of adoption should always be discussed.

      Quite often, a patient declines an otherwise clearly indicated amniocentesis. Today, the standard of care dictates the need for an explanatory note in the patient's record. A brief letter to the patient noting the indication for prenatal study and that such study was declined is also helpful. Litigation has ensued in which patients have maintained that no amniocentesis had been offered, while obstetricians (without notes in the records) have taken an opposite view.

      The counseling session provides an opportunity to also contribute to the overall psychological health of the patient. Counselors should therefore spend significant time helping patients to apply the information to their lives and should not be wholly focused on communicating genetic information.²⁹⁷

      Truth in counseling

      Since the time of Hippocrates, physicians have often withheld the truth from their patients and, as Katz²⁹⁸ emphasized in The Silent World of Doctor and Patient, defended the morality of this position. Sparing the patient emotional distress, removing hope, and/or diminishing the physician's personal esteem may have been some of the quintessential reasons for the lack of truth telling. While recognizing the modern change in moral sentiment, Lantos²⁹⁹ acknowledged that truth telling has become “morally obligatory.” Notwithstanding his preference that he “would not want a doctor judging the morality of my decision,” he remained uncertain about the value of the “comforting lie.”

Situations have arisen in genetic counseling where facts have been distorted, de‐emphasized, or even hidden. Obstetricians opposed to abortion of an abnormal fetus have been known to provide incorrect or misleading information. That position is simply amoral, and flies in the face of the ethical principles of autonomy and beneficence. A physician or genetic counselor visiting their religious beliefs on a patient is totally unacceptable. In one medico‐legal case, the mother had a 25 percent risk of having a second child with severe intellectual disability and microcephaly. The obstetrician purposefully delayed the required ultrasound study to 28 weeks of gestation, after which pregnancy termination was impermissible. The state court, in addition to finding that physician negligent, levied a hefty punitive fine as well.

      The enormous increase in DNA testing, including prenatal studies, has led to a corresponding increase in questions of nonpaternity. Prevalence estimates of nonpaternity vary widely,^300–302 with a meta‐analysis noting a median of 4 percent in 17 studies.³⁰¹ Discovery of a potential chromosomal abnormality (e.g. an inversion), a microdeletion or a microduplication, or concerning DNA variant, may unexpectedly reveal nonpaternity. This observation may rest on a Y‐chromosome karyotypic difference, haplotypes,³⁰³ or a Y‐deletion not found in the fetal DNA. A microarray may yield consanguinity (from runs of homozygosity) when the male partner is clearly not related (see Chapter 13). A biallelic DNA variant in the fetus may not be reflected in the putative allele of the “father of the fetus.” Once the nonpaternity has been discovered the question arises about informing the male partner, and telling the truth.

      Much has been written about this dilemma.^{300, 304–308} Of course this potential family crisis could possibly be avoided when obtaining informed consent, at which time it should be made clear that paternity will be confirmed routinely if prenatal testing for other reasons is performed. Pregnant women given that information may decide to forego any testing.

      The challenge providers face is the morality of nondisclosure, the potential for not only serious harm to the family unit but also, in some cultures, abandonment or potential serious injury or death to the mother.³⁰⁴ Some have argued that clinical significance should determine whether disclosure should occur.³⁰⁰ Where an inheritance pattern and explanation is necessary, for example, communication will be needed. In those circumstances the provider would be advised to first meet with the mother. However, clinical significance may not be immediately apparent. Avci recounts the poignant case of a 55‐year‐old father in kidney failure planning to receive a kidney transplant from his 35‐year‐old son.³⁰⁴ The HLA matching pointed to nonpaternity. The physician in that case met with the parents and son, confabulating that tests on the son indicated that being a donor was highly risky for him! The position taken by this physician would be justifiable according to well regarded ethicists,³⁰⁹ and in accord with the principle of beneficence. Other ethicists disagree, and maintain that veracity is an ethical principle^{310, 311} and rather than a moral rule, it is a prima facie obligation.^{304, 309} Like confidentiality, truth too is not absolute.

      The paternalistic approach overrides all personal choices with the aim of protecting or benefitting the patient. Since this would occur without the patient's full knowledge or consent, it would be ethically unacceptable and in conflict with the principle of autonomy.³¹⁰ The Kantian philosophy holds that lying is always wrong, regardless of circumstances.³¹¹

      In today's world, the question of nonpaternity disclosure automatically invites legal purview.^{305, 306} Withholding information from the “father” directly violates the physician–patient “contract,” and establishes a cause of action for malpractice. On the other hand, a woman attending genetic counseling alone (not infrequent) could maintain her rights to privacy,³¹² the breach of which would inevitably end up in court. Much of enacted legislation in many states in the United States is focused on disclosures to third parties and not on the issue of concealing genetic information from a contracted party.³⁰⁵

      Clearly, the discovery or realization of nonpaternity at the time of prenatal diagnosis is fraught with potentially serious personal, medical, social, and legal problems. The counseling provider has to be extremely adept in managing these cases. Warning about the potential discovery of nonpaternity as part of informed consent prior to testing^{313, 314} may lead a pregnant woman to decline an indicated chorionic villus sample (CVS) or amniocentesis. Nondisclosure is ill advised when nonpaternity is discovered. In the effort to do no harm, we have requested a counseling session with the prospective mother alone.