Читать книгу Genetic Disorders and the Fetus - Группа авторов - Страница 33

Today, more than ever before, genetic counseling before conception or marriage³²⁸ may provide opportunities for carrier detection, prenatal diagnosis, preimplantation genetic testing, or the presentation of other important options noted earlier. This is the time to review the family history, although it is startling that so many couples know so little about their relatives. Therefore, the optimal time to initiate counseling is not during pregnancy. Counselees whose first antenatal visits occur after the second missed menstrual period miss the critical period of organogenesis and patients referred well after conception have lost almost all their options except for selective abortion. Given the 70 percent protection afforded by periconceptional folic acid supplementation against the occurrence of an NTD^{329, 330} (see Chapter 10), there is a need to advise women about the importance of preconception care.

Confronted by a fatally malformed newborn, the physician may attempt to counsel a couple on the very day of the birth of such a child or before the mother's discharge from the hospital. Although communication and support are both vital during those fateful days, the physician needs to recognize the great difficulty that anguished patients would have in assimilating or comprehending even the essence of any counseling.^{279, 331, 332} The physician/counselor should share with the couple his or her awareness that it is difficult to remember all the important information in the face of emotional upset and that it would be normal and expected for them to raise all the same questions some weeks later, when the entire subject could be fully covered. Support for the parents should continue to be available for many months.