RT Book, Section A1 Nishizawa, Haruki A1 Kurahashi, Hiroki A2 Murray, Michael F. A2 Babyatsky, Mark W. A2 Giovanni, Monica A. A2 Alkuraya, Fowzan S. A2 Stewart, Douglas R. SR Print(0) ID 1102703673 T1 Recurrent Pregnancy Loss T2 Clinical Genomics: Practical Applications in Adult Patient Care YR 2014 FD 2014 PB McGraw-Hill Education PP New York, NY SN 9780071622448 LK accessbiomedicalscience.mhmedical.com/content.aspx?aid=1102703673 RD 2024/04/24 AB Disease summary:Recurrent pregnancy loss (RPL) is traditionally defined as three or more consecutive losses of recognized pregnancies in the first or early second trimester (<20 weeks of gestation). Sporadic spontaneous pregnancy loss occurs randomly in one-sixth of clinically recognized pregnancies. However, RPL must be distinguished from sporadic cases as these occasionally respond to treatment. Around 1% of couples attempting pregnancy experience RPL.Hereditary basis:Structural chromosomal abnormalities such as translocations and inversions are often identified in one partner of a couple experiencing RPL. The fetuses from these couples frequently carry chromosome copy number abnormalities which lead to miscarriage. Hereditary thrombophilia in females is also occasionally associated with RPL.Differential diagnosis:RPL is a heterogeneous condition. In addition to parental chromosomal abnormalities and hereditary thrombophilia, hormonal and metabolic disorders, uterine anatomic abnormalities, certain infections, and autoimmune disorders have been accepted as etiologic factors in RPL. However, up to 50% of these cases still remain unexplained after standard gynecologic, hormonal, and karyotypic investigations.