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The fateful day when the anxious, waiting couple hears the grim news that their fetus has a malformation or genetic disorder will live on in their memories forever. Cognizance of this impact should inform the thoughts, actions, and communications of the physician or counselor called on to exercise consummate skill at such a poignant time. Couples may have traveled the road of hope and faith for many years, battling infertility only to be confronted by the devastating reality of a fetal anomaly. With hopes and dreams so suddenly dashed, distress, doubt, anger, and denial surface rapidly. The compassionate physician or counselor will need to be fully armed with all the facts about the defect or be ready to obtain an immediate expert clinical genetics consultation for the couple.

Care should be taken in selecting a quiet, comfortable, private location that is safe from interruption. The language used should be clear and without jargon. Attention to a patient's cultural background and possible need for an interpreter is important. This is a communication not to be rushed but characterized by sensitivity and empathy. Informing a couple with bad news about the fetus by telephone or email is unacceptable. Arrangements for a follow‐up visit and support where needed is advisable. Ptacek and Eberhardt⁹⁶⁹ and others,⁹⁷⁰ in reviewing the literature, noted consensus recommendations in breaking bad news that included the aforegoing and sitting close enough for eye contact without physical barriers. Identifying a support person, if the partner cannot/will not attend the consultation, is important and knowledge of available resources is valuable. All of the above points are preferences that have been vocalized by parents receiving bad news during pregnancy or about their infants.⁹⁷¹

Almost all couples would have reached this juncture through maternal serum screening, noninvasive prenatal testing, an ultrasound or MRI study, or amniocentesis/CVS for maternal age, for established known carriers, because of a previously affected child, being an affected parent, or having a family history of a specified disorder. More recently, prenatal diagnosis using whole‐exome sequencing⁹⁷² has led to the diagnosis of unexpected genetic disorders, and in the process introduced ethical issues and challenging quandaries.^{973, 974} Commonly, an anxious patient insists on a prenatal study. Physicians are advised not to dissuade patients from prenatal diagnosis but rather to inform them about the risks of fetal loss balanced against the risk of fetal abnormality, distinctly different from recommendations for accepted indications. Given the low risks, prenatal diagnosis can be offered to all couples (see Chapter 9).

Recognition of a fetal abnormality by imaging, molecular, or cytogenetic study may reveal, for the first time, the genetic disorder in an affected asymptomatic parent. Robyr et al.⁹⁷⁵ described 20 such parents with disorders including spinal muscular atrophy, DiGeorge syndrome, osteogenesis imperfecta, arthrogryposis, and Noonan‐like syndrome.

Frequently, second‐trimester ultrasound studies reveal fetal abnormalities of uncertain etiology with a subsequent normal karyotype. A chromosomal microarray may enable a precise diagnosis in 6–8.1 percent^{976, 977} (see Chapter 13). In a legal case, sequential observations noted prominent lateral cerebral ventricles, multiple thoracic hemivertebrae, and intrauterine growth restriction. Amniocyte chromosome studies were normal. The parents were not counseled about the potential for intellectual disability despite no definitive diagnosis. The child was born with holoprosencephaly with marked psychomotor delay. Diagnostic uncertainty must be shared with parents at risk. Uncertainty should not and cannot be suppressed for the patient's sake. Expressing uncertainty does not imply ignorance or incompetence. An honest accounting of the problems at hand, the offer of a second opinion, and an empathetic approach all go a long way in averting a catastrophic outcome and aggravating litigation. Moreover, responsibility shared is anxiety halved.