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Genetic Abnormalities

Genetic abnormalities

Human beings usually have 46 chromosomes (44 somatic chromosomes and 2 sex chromosomes.

Men 44 plus one X & one Y = 46
Women 44 plus two X's = 46

Studies evaluating the genetic make-up of spontaneously lost pregnancies have revealed that nearly 75% of miscarriages are genetically abnormal. Usually, this has nothing to do with genetic make-up of mom and dad. Rather, it has to do with how the chromosomes duplicate and divide in meiosis during the formation of eggs and sperm. If an abnormal sperm fertilizes a normal egg or an abnormal egg is fertilized by a normal sperm the resulting embryo is abnormal and usually does not survive beyond early pregnancy, resulting in a miscarriage.

In 4-8% of couples with RPL one of the partners will have a chromosomal abnormality that causes miscarriages. These individuals are normal, they have all of the genetic material that they need to live, survive, be healthy and reproduce. However, a large percentage of the eggs or sperm of these individuals will be genetically abnormal and thus will result in genetically abnormal pregnancies that end up as a miscarriage.

The most common type of parental chromosomal abnormality is a "balanced translocation"



Tests usually done

Chromosomal analysis on both partners in the couple.






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