Lifecell Diagnostics, Chennai, India
Case Series
Importance of Application of Appropriate Genetic Tests in Day Today Fetal Medicine Clinical Practice: Illustration with Cases
Author(s): Sreelakshmi Kodandapani* and Suryaprakash Rao
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 amniocen.. View More»
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