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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 DNA studies (see Chapter 10) including whole‐exome sequencing (see Chapter 14). In circumstances in which parents steadfastly withhold permission for autopsy, radiographs, MRI, computed tomography, and needle liver biopsy for DNA could provide important information when a precise diagnosis has yet to be made.^1017–1019 In most stillbirths, the cause(s) is not determined. In the long QT syndrome, which has rarely been diagnosed in utero,¹⁰²⁰ and which we have diagnosed in the first month of life,¹⁰²¹ affected mothers have an increased risk of fetal death, not only due to an arrhythmia, but also to putative placental or myometrial dysfunction.¹⁰²² Moreover, stillbirth at ≥23 weeks of gestation in these mothers is associated with an increased risk of severe maternal morbidity, especially among those with comorbidities.¹⁰²³ MRI could provide a useful acceptable alternative when fetal anomalies are expected.¹⁰¹⁷ The autopsy is the last opportunity parents will have to determine causation, which may ultimately be critical in their future childbearing plans and also for their previous children. A formal protocol for evaluating the cause of stillbirth or perinatal death is important (Box 1.3) to secure a definitive diagnosis, thereby laying the foundation for providing accurate recurrence risks and future precise prenatal diagnosis. In the emotional chaos that invariably follows stillbirth, necessary actions may be forgotten. An action checklist (Box 1.4) serves to orient the process. In addition, in the face of known or suspected genetic disorders in which mutation analysis now or in the future may be critical, care should be taken to obtain tissue for DNA banking or for establishing a cell line. Later, parents may return and seriously question the failure of the physician to secure tissues or DNA that would have been so meaningful in future planning (e.g. X‐linked intellectual disability).