Integration of imaging and molecular approaches in selective fetal reduction in twin pregnancies with one carrying a pathogenic genomic aberration

With the evolution of assisted fertility and prenatal diagnostic technology, the prevalence of multi-fetal pregnancy increased, followed by the demand for prenatal intervention if genomic aberration was detected. How to distinguish the affected foetus from the normal co-twin before selective fetal reduction is therefore challenging.

We retrospectively reviewed the cases of dichorionic twins at our centre during 2004-2018, where selective fetal reduction was requested because one foetus carried a pathogenic genomic aberration. Five cases were enrolled, including three foetuses with trisomy 21, one foetus with microduplication and one foetus with microdeletion disorders.

We labelled the affected foetus by prenatal ultrasound and rapid molecular tools. For the twins without discriminating sonographic features (e.g., the same gender and no distinct placentae), interphase fluorescence in situ hybridization, rapid microarray and short tandem repeat markers were applied to identify the affected foetus.

Selective fetal reduction was allocated accurately for all individuals. Two cases delivered at term, while two delivered preterm, and one developed fetal loss of the co-twin.

We proposed a working scheme of integrating imaging and molecular techniques to correctly identify the affected co-twin before selective fetal reduction to ensure the accuracy of the identification.