Dual pathology of parvovirus B19 infection and Aicardi-Goutières syndrome complicating non-immune hydrops fetalis.

Non-immune hydrops fetalis (NIHF) is a multifactorial condition characterised by abnormal fluid accumulation in fetal compartments. We report a complex case of NIHF in a primigravida in her 30s with dual pathology involving fetal parvovirus B19 infection and Aicardi-Goutières syndrome (AGS) due to a gene mutation. The fetus exhibited severe anaemia, hydrops fetalis, ventriculomegaly and brain calcifications.

Whole exome sequencing, clinical exome or targeted gene panels: what to choose for suspected lethal skeletal dysplasia (short rib thoracic dysplasia type IV).

Lethal skeletal dysplasias (SDs) are a heterogeneous group of rare but important genetic disorders characterised by abnormal growth and development of bone and cartilage. The phenotypic variation of SD highlights the complex aetiology for this group of disorders. Short rib polydactyly syndrome (SRPS) types I-IV are a group of rare congenital autosomal recessive types of SD.