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Balanced Translocation

Recurrent miscarriages can also result from balanced translocation. Women who have had three or more miscarriages should undergo genetic testing to see if chromosomal abnormalities are the source of the problem, as unbalanced translocations may account for one in 20 cases of recurrent miscarriages.

When a chromosome translocation is suspected, genetic testing is done by drawing blood samples from both partners and the chromosomes are stained to make them visible when magnified 1,000 times. A photograph of the chromosomes called a karyotype is then printed and analyzed by a cytogeneticist.

There is another, more expensive type of genetic screening called Preimplantation Genetic Diagnosis (PGD). While amniocentesis can only diagnose chromosomal and genetic abnormalities in an actual fetus, PGD can detect these problems in an embryo before it is even in the womb. Used with in vitro fertilization (IVF) treatment, PGD allows doctors to identify embryos with abnormalities outside of the body so that only the normal embryos will be placed in the uterus. Typically, PGD costs anywhere between $3,000 and $4,000, in addition to the cost of IVF. Although it is expensive, this test can help couples with balanced translocation or a family history of genetic abnormalities avoid the decision to end a pregnancy or have a child with severe birth defects.

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