Masterclass 14 - Fetal Medicine, Pathology, Radiology & Genetics/Genomics (FMPRG) for Prenatal Diagnosis of Fetal Abnormalities

The Hospital Authority FMPRG (Fetal Medicine, Pathology, Radiology, Genetics/Genomics) programme is an online interactive platform for uploading special prenatal fetal medicine cases (fetal structural anomalies) among the multi-disciplinary team members for sharing and voting to select appropriate cases for WES/WGS under public funding. The entire discussion and decision-making process can be completed online in a timely manner without the need of face-to-face meeting. And all the cases are archived on the website for education and research purposes together with secured patient privacy.
 
So PL, Hui ASY, Ma TWL, Shu W, Hui APW, Kong CW, Lo TK, Kan ANC, Kan EYL, Chong SC, Chung BHY, Luk HM, Choy KW, Kan ASY, Leung WC. Implementation of Public Funded Genome Sequencing in Evaluation of Fetal Structural Anomalies. Genes (Basel). 2022 Nov 10;13(11):2088. doi: 10.3390/genes13112088. PMID: 36360323; PMCID: PMC9690018.

Foetal MRI has become a complementary imaging tool to routine obstetrics ultrasound. MRI can provide additional and diagnostically-relevant information, add certainty to ultrasound diagnosis and help parental counselling. Post-mortem imaging has undergone a remarkable growth in the past decade. It is not uncommon parents decline consenting to standard autopsy even though it is known to provide additional useful information. MRI provides high concordance for overall diagnosis especially for abnormalities of the heart, brain and musculoskeletal system. Radiography and CT are particularly useful for skeletal dysplasia cases. Ultrasound provides the potential for image guided biopsy for tissue analysis and focused dissection.

Fetal autopsy on second trimester abortus whether spontaneous or induced is the single most useful investigation and provides information that changes or significantly adds to the clinical diagnosis in nearly half of cases. Fetal autopsy is most informative in the group of fetuses with dysmorphogenesis of embryonal onset, e.g. trisomy syndromes. It would not be useful where phenotypic presentation evolves only in post-natal life, e.g. neurofibromatosis 1. Fetal autopsy is limited by the sheer small size and autolytic degeneration that may preclude morphological assessment. The lack of interest and expertise in this area of perinatal pathology is also another limitation.