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

Relevance of Family History

When a patient presents having had recurrent spontaneous abortions, a detailed family history should be obtained, including information about the partner’s family. The family history may provide a clue to the presence of a familial chromosome rearrangement. A history of any congenital anomaly, mental retardation, infertility, spontaneous abortion, or perinatal death is significant because each is characteristic of chromosomal anomaly (see Fig. 4).


Family pedigree showing typical features of familial chromosome rearrangement. In this family, husband had mentally retarded sister and brother whose wife suffered 2 spontaneous abortions. Family history is noteworthy, particularly in view of couple’s experience having spontaneous abortion and stillbirth with growth retardation. Blood chromosome study of both partners is necessary to rule out translocation or other chromosomal anomaly.

Figure 4. Family pedigree showing typical features of familial chromosome rearrangement. In this family, husband had mentally retarded sister and brother whose wife suffered 2 spontaneous abortions. Family history is noteworthy, particularly in view of couple’s experience having spontaneous abortion and stillbirth with growth retardation. Blood chromosome study of both partners is necessary to rule out translocation or other chromosomal anomaly.