Prenatal diagnosis of trisomy 18 rescue resulting in mosaic of two different diploid cell lines in a hydropic fetus

A 38-year-old woman (Gravida 4, Para 1, Abortion 2) was referred to our center because of advanced maternal age and high risk of the first-trimester combined screening for Down syndrome. Considering the risk of invasive testing, the pregnant woman chose to take a non-invasive prenatal testing (NIPT), which showed high risk for trisomy 18. Then amniocentesis was performed at 16 weeks. Cytogenetic analysis revealed a normal female fetus with 46, XX while the QF-PCR was failed due to insufficient DNA amounts.
Source: European Journal of Obstetrics, Gynecology, and Reproductive Biology - Category: OBGYN Authors: Tags: Correspondence Source Type: research