ABSTRACT
The benefits of delayed cord clamping have been investigated in multiple studies and supported by various professional associations. Other aspects of umbilical cord management strategies occurring after cord clamping have not been fully thoroughly analyzed. This article will explore and deliberate elements of umbilical cord nonseverance, vascular access management, and blood banking.
Subject(s)
Parturition , Umbilical Cord , Pregnancy , Female , Humans , Constriction , Time Factors , Blood BankingABSTRACT
Pathogenic variants in MECOM, a gene critical to the self-renewal and proliferation of hematopoietic stem cells, are known to cause a rare bone marrow failure syndrome associated with amegakaryocytic thrombocytopenia and bilateral radioulnar synostosis known as RUSAT2. However, the spectrum of disease seen with causal variants in MECOM is broad, ranging from mildly affected adults to fetal loss. We report two cases of infants born preterm who presented at birth with symptoms of bone marrow failure including severe anemia, hydrops, and petechial hemorrhages; radioulnar synostosis was not observed in either patient, and, unfortunately, neither infant survived. In both cases, genomic sequencing revealed de novo variants in MECOM considered to be responsible for their severe presentations. These cases add to the growing body of literature that describe MECOM-associated disease, particularly MECOM as a cause of fetal hydrops due to bone marrow failure in utero. Furthermore, they support the use of a broad sequencing approach for perinatal diagnosis, as MECOM is absent from available targeted gene panels for hydrops, and highlight the importance of postmortem genomic investigation.