Genetic Disorders and the Fetus. Группа авторов

12 0 0 Somatic symptom Crying 82 50 22 5 Irritable 67 38 19 3 No concentration 57 41 7 1 Listlessness 56 17 2 0 Sleeplessness 47 19 2 1 Tiredness 42 21 6 3 Loss of appetite 31 10 0 0 Nightmares 24 7 5 0 Palpitations 17 ‐ 6 0 Headaches 9 8 2 0

      Source: White‐van Mourik et al. 1992.⁹⁹² Rproduced with permission of John Wiley and Sons.

      Grief counseling becomes part of the consultation after elective termination, in which full recognition of bereavement is necessary (see Chapter 33). Compassion fatigue, characterized as feeling overwhelmed by experiencing patients' suffering,⁹⁹⁶ mainly in cancer genetic counseling, is not likely to be an issue in prenatal genetic counseling. The psychology of mourning has been thoroughly explored^997–999 (see Chapter 33). Worden emphasized how important it is for a bereaved individual to complete each of four stages in the mourning process:⁹⁹⁸

      1 Acceptance of the loss.

      2 Resolving the pain of grieving.

      3 Adjusting to life without the expected child.

      4 Placing the loss in perspective.

      The importance of allowing parents the option of holding the fetus (or later, the child), when appropriate, is well recognized.^{1000, 1001} These authors have also called attention to the complex tasks of mourning for a woman who is faced with one abnormal twin when pregnancy reduction or birth might occur.

      Notwithstanding anticipated loss and grief, Seller et al.,¹⁰⁰¹ reflecting our own experience, emphasized that many couples recover from the trauma of fetal loss “surprisingly quickly.” Insinuation of this reality is helpful to couples in consultations both before and after elective termination. Moreover, couples' orientation toward the grieving process achieves an important balance when they gain sufficient insight into the long‐term emotional, physical, economic, and social consequences they might have needed to contemplate if prenatal diagnosis had not been available.

      Testing the other children

      Invariably, parents faced with the news of their affected fetus question the need to test their other children. Answers in the affirmative are appropriate when diagnosis of a disorder is possible. Carrier detection tests, however, need careful consideration and are most appropriately postponed until the late teens, when genetic counseling should be offered. Given the complex dilemmas and far‐reaching implications of testing asymptomatic children for disorders that may manifest many years later, parents would best be advised to delay consideration of such decisions while in the midst of dealing with an existing fetal defect. In later consultations, the thorny territory of predictive genetic testing of children can be reviewed at length.^1002–1005 Fanos¹⁰⁰² emphasized that testing adolescents “may alter the achievement of developmental tasks, including seeking freedom from parental figures, establishment of personal identity, handling of sexual energies and remodeling of former idealizations of self and others.” Fanos also emphasized that parental bonding may be compromised by genetic testing when the child's genetic health is questionable. Parents may react to the possible loss or impairment of a child by developing an emotional distance, recognized as the vulnerable child syndrome.¹⁰⁰⁶ Other aspects, including interference with the normal development of a child's self‐concept, introduce issues of survivor guilt or increase levels of anxiety already initiated by family illnesses or loss.¹⁰⁰⁶ Predictive testing of children for later manifesting neurodegenerative or other disorders would rarely be recommended, except in circumstances in which early diagnosis could offer preventive or therapeutic benefit.

Perinatal genetic counseling

      A similar spectrum of issues and concerns is faced after the detection and delivery of a child with a genetic disorder or an anomaly. Pregnancy with a defective fetus may have been continued from the first or second trimester or a diagnosis may be made in the third trimester or at the delivery of a living or stillborn child. The principles and prerequisites for genetic counseling discussed earlier apply equally in all these circumstances.¹⁰⁰⁷ Special attention should be focused on assuaging aspects of guilt and shame (see Chapter 33). Difficult as it may be for some physicians,^{1008, 1009} close rapport, patient visitation, and sincerity are necessary at these times, even when faced with commonly experienced anger. A misstep by the physician in these circumstances in failing to continue (it is to be hoped) the rapport already established during pregnancy care provides the spark that fuels litigation.¹⁸⁴

The rate of stillbirth in the United States in 2013 was 5.96/1,000 livebirths, occurring in 1 in 160 deliveries,¹⁰¹⁰ with about 23,600 cases ≥20 weeks of gestation. For twin pregnancies, the rate is about 2.5 times higher. Chromosomal abnormalities occur in 6–13 percent of stillbirths,^1011–1013 but is greater than 20 percent in those with malformations. The risk of recurrence following unexplained stillbirth is between 2.5 and 4.18 percent.¹⁰¹⁰ In comparison, stillbirth rates in 2010–2016 in Pakistan were 56.9/1,000 births, 25.3/1,000 in India, 21.3/1,000 in Zambia and Kenya, and 19.9/1,000 in Guatemala.¹⁰¹⁴ Using whole‐exome sequencing in 246 stillbirths, 15 (6.1 percent) had a molecular diagnosis in one report.¹⁰¹⁵ The genetic cause of most stillbirths remains unknown. Women with a history of stillbirth have an increased risk of long‐term chronic kidney disease and end‐stage renal disease.¹⁰¹⁶

Despite anger, grief, and the gamut of expected emotions, the attending physician (not an inexperienced healthcare provider) should take care to urge an autopsy when appropriate. Diagnosis of certain disorders (e.g. congenital nephrosis) can be made by promptly collected and appropriately prepared tissue, and by subsequent