Article
Molecular autopsy by proxy in preconception counseling.
Clinical genetics - 1 Dec 2021
Ali Alghamdi Malak, Alrasheedi Ameinah, Alghamdi Esra, Adly Nouran, AlAali Wajeih Y, Alhashem Amal, Alshahrani Abdulaziz, Shamseldin Hanan, Alkuraya Fowzan S, Alfadhel Majid
Abstract excerpt
Monogenic diseases that result in early pregnancy loss or neonatal death are genetically and phenotypically highly variable. This often poses significant challenges in arriving at a molecular diagnosis for reproductive planning. Molecular autopsy by proxy (MABP) refers to the genetic testing of relatives of deceased individuals to deduce the cause of death. Here, we specifically tested couples who lost one or...
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