婦人科および産科の症例報告 オープンアクセス

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Importance of Application of Appropriate Genetic Tests in Day Today Fetal Medicine Clinical Practice: Illustration with Cases

Sreelakshmi Kodandapani1*, Suryaprakash Rao2

It is important to apply appropriate genetic tests to have the best yield and for complete final diagnosis. Here we would like to illustrate the importance by demonstrating of cases.

First is a case with major lethal anomalies. Fetus had holoprosencephaly, umbilical cord cyst, and facial dysmorphic features. After termination, QFPCR was done on fetal tissue. Fetus had trisomy 18: Edward syndrome.

Second case was 12 weeks fetus with cystic hygroma. FISH was done and fetus had turner syndrome. Third was an interesting one. Fetus had right aortic arch with polyhydramnios. We had dilemma whether to apply MLPA or CMA. As there was polyhydramnios, we did MLPA first, which was positive for 22q deletion.

The last case was the most interesting one which showed us karyotyping is still the best one and needed for everyone case was referred for amniocentesis in view of high risk for trisomy 21. Fish report was normal. However, at karyotyping there was monosomy 12, demonstrating importance of karyotyping and the need for all cases.