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A 27-year-old female asked:

Doc terminated my preg. bec fetus had cystic hygroma, aborted fetus's cytogenetic lab test result: apparently normal female karyotype, plz explain??

2 doctor answers2 doctors weighed in
Dr. Robert Kwok
Pediatrics 33 years experience
Fetus was a girl: "Normal female karyotype" just means the fetus was genetically a girl. It means there were 2 of each chromosome (contrast that with Down syndrome, where a fetus would have 3 of chromosome #21). So, "normal female karyotype" doesn't have a particular special meaning, but only that she was genetically a girl.
Dr. James Ferguson
Pediatrics 46 years experience
It happens: A cystic hygroma can show up in many forms with one presentation similar to a feature of some TURNER Syndrome (X0) females. If a Turner syndrome patient survives pregnancy they are all sterile females that end up short & have a potential for heart, brain & other problems. However it can also show up in otherwise normal kids, which happened in your case.

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Last updated May 2, 2018

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