IllnessFailure to implant, recurrent; differential diagnosis

NGS +

[Sanger]

In implantation failure, women show no signs of egg implantation, sometimes despite of hCG production. In recurrent implantation failure (RIF), patients have at least three failed cycles of in-vitro fertilization, even after transfer of "good quality" embryos. RIF may be due to uterine, male or embryonic factors, possibly also by protocol parameters of in-vitro fertilization. Female factors in implantation failure may be caused by, for example, anatomic conditions, thrombophilia, abnormalities in endometrial receptivity and immune-related causes, all potentially related to genetic factors. The role of environmental and lifestyle factors, immunologic abnormalities, psychological disorders and infections is well known in the context of RIF. The role of genetic factors, particularly complex multifactorial processes, is not fully understood, but most often multifactorial causes are involved. Here, we analyze genes for which evidence exists for involvement in RIF. A negative molecular genetic finding is by no means an exclusion of genetic factors causing implantation failure.

Reference: https://doi.org/10.1016/j.genrep.2020.100685

• Alias: Pregnancy loss, recurrent; RPL
• Alias: Recurrent implantation failure, RIF
• Allelic: Breast cancer, somatic (ESR1)
• Allelic: Li-Fraumeni syndrome (TP53)
• Allelic: Migraine, susceptibility to (ESR1)
• Allelic: Myocardial infarction, susceptibility to (ESR1)
• Bone marrow failure syndrome 5 (TP53)
• Estrogen resistance (ESR1)
• Homocystinuria due to MTHFR deficiency (MTHFR)
• Hydatidiform mole, recurrent, 2 (KHDC3L)
• Hyperlipoproteinemia, type III (APOE)
• MTHFR deficiency, disorders of folate metabolism + transport [panelapp] (MTHFR)
• Microvascular complications of diabetes 1 (VEGFA)
• Oocyte maturation defect 5 (WEE2)
• Pregnancy loss, recurrent, 4 (SYCP3)
• Pregnancy loss, recurrent, susceptibility to, 1 (F5)
• Pregnancy loss, recurrent, susceptibility to, 2 (F2)
• Pregnancy loss, recurrent, susceptibility to, 3 (ANXA5)
• Preimplantation embryonic lethality (TLE6)
• Preimplantation embryonic lethality 2 (PADI6)
• Progesterone resistance (PGR)
• Spermatogenic failure 4 (SYCP3)