Correlation of genetic material of the embryo and correlation with recurrent abortio

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Correlation of genetic material of the embryo and correlation with recurrent abortion:

:How normal are the genetic quantum in blastocyst or  embryo?? The possibility of continuation of preg depends chiefly on that . Ans:-abnormal gentic content is the  chief cause of recurrent pregancy loss . If genetic content of embryo is abnormal in arrangement or less in quantum then abortion is bound to follow and such an happening is difficult to  diagnose. By contrast if the embryo   contains is correct sequence and quantum of genetic material then hopefully preg will continue and there won’t be any miscarriage. Around 50%    of RPL    cases remain unexplained. Classically recurrent abortion is defined as three or more consecutive    pregnancy   losses. Although    according to the last   document published by the practice committee of the American    Society  for Reproductive Medicine   in 2013, recurrent  pregnancy  loss   is a disease distinct form infertility defined by two or  more failed pregnancies . The current incidence of   all couples    at reproductive age who suffers recurrent   miscarriages   is   approximately    1-3% and  despite    many efforts by the scientific   community around 50%    of RPL    cases  remains  unexplained .

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RPL & tets mentioned by Dr The  most   frequent   cause of recurrent miscarriage is an

 What is partial aneuploidy?? Abnormal embryonic karyotype. Or deletion or mutation of even  one gene may yield to the  development   of an unsuccessful pregnancy. So  it is crucial that the amount of genetic material  that the embryo   contains is correct  . Any imbalances  in the DNA   content can   lead to implantation failure   miscarriage   or in the worst scenario  to a live birth   with serious health problems. Such imbalances can involve   loss or gain of a whole chromosome   which is known   as partial  aneuploidy . Besides   the study  of chromosome   also known as partial aneuploidy   Besides    the study of chromosome aneuploidies   there are  other genetic factors significantly   less studied such as  single  gene defects   whose relationship   with RPL   constitutes an   emerging  area of research . There are   several major   groups   of single  gen defects and polymorphisms   that have been  associated    with pregnancy    loss including   musculoskeletal gene   disorders    genes involved in inflammatory processes thrombophillia related    genes and also   polymorphisms  of genes and mutations   in specific     enzymes or proteins that may   confer  susceptibility to RPL .

   Few points on Single gene disorders   related to recurrent   pregnancy   loss

A)           Musculoskeletal  Gene   Defects: mutation/ deletion” :Some  autosomal   dominant   disorders   such as  myotonic  dystrophy   thanatophoric dysplasia  and type  ll  osteogenesis imperfect  are among the single gene   musculoskeletal  disorders that have been most frequently   associated with RPL. Some   of these  disorders belong  to a group   called   trinucleotide  repeat  diseases in which   the mutation   is caused  by the  repetition in a  variable    number   of a trinucleotide sequence    when the number  of these repeats   exceeds  a specific   threshold in the DNA   segment this is  more prone   to errors during   mitosis.

B)           Genetic mutation/ deletion of Immunologic and  inflammatory Gene  Defects:-Immunological mechanisms are responsible among other factors of successful    reproduction so studies   of single  gene   defects    involved  in immune  regulation and RPL   have been    extensively    investigated in recent    years The gene     encoding   the human leukocyte G antigen is a component that  plays  an essential   role in the alloimmune recognition process  at the maternal fetal interface. The presence  of a  null allele for the most common HLA-G    isoform  as well as   distinct polymorphisms in the HLA-G   promoter region    have been associated  with  recurrent   miscarriage  suggesting   that a functional protein   is necessary   for reproduction .

3) Mutations /Deleletions of angiogenesis  and vasoconstriction  related gene  :-Yes it is possible such an defect in embryo may cause RPL.  The processes of angiogenesis and an adequate blood supply are critical of angiogenesis     and an adequate   blood supply  are critical   for several  steps     in early human pregnancy   . So it is not   surprising that there are also some studies  reporting   the association    between   angiogenesis  and vasoconstriction  related gene   and RPL . A recent meta  analysis of available endothelial growth factor    p53   and eNOS    polymorphisms and idiopathic  RPL