References for: Causes, evaluation, and treatment.
Medscape Women’s Health 1998 May;3(3):2 (ISSN: 1521-2076) Bick RL; Madden J; Heller KB; Toofanian A
Thrombosis Clinical Center, Department of Medicine (Hematology & Oncology), Presbyterian Hospital of Dallas, Tex., USA.
Impact and Implications of Chromosomal Abnormalities
Couples in which 1 partner is found to have a chromosomal rearrangement may benefit from genetic counseling. Counseling should include: (1) an explanation of the findings; (2) associated risks for miscarriage and live birth with phenotypic anomalies; and (3) a discussion of reproductive options, including prenatal diagnosis (amniocentesis or chorion villus sampling), donor insemination (if the husband is the carrier) or egg donor (if the wife is the carrier). Implications for the extended family would also be discussed, and assistance would be provided in informing relatives.
Genetic counseling is best provided before the next pregnancy, so all options may be explored and appropriate planning may be instituted. Although a minority of couples elect not to have biologic children in this situation, the majority are relieved to find out that the chance of having a healthy child is high. Genetic counselors can be located through the National Society of Genetic Counselors.