{
  "abstract": "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 TREX1 gene mutation. The fetus exhibited severe anaemia, hydrops fetalis, ventriculomegaly and brain calcifications. Whole exome sequencing confirmed AGS as the genetic aetiology, while PCR on amniotic fluid identified parvovirus B19 as a coexisting infection. Although AGS alone has varied phenotype and prognosis but due to coexisting severe anaemia, the neonate succumbed postnatally. This report highlights the importance of integrating genetic and infectious workups in atypical NIHF cases.",
  "authors": [
    {
      "affiliations": [
        "Department of Medical Genetics & Pediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India"
      ],
      "name": "Dolat Singh Shekhawat"
    },
    {
      "affiliations": [
        "Department of Obstetrics & Gynecology, Nil Ratan Sircar Medical College & Hospital, Kolkata, West Bengal, India"
      ],
      "name": "Shreya Das"
    },
    {
      "affiliations": [
        "Department of Obstetrics and Gynecology, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India"
      ],
      "name": "Charu Sharma"
    },
    {
      "affiliations": [
        "Department of Medical Genetics & Pediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India"
      ],
      "name": "Nayan Tada"
    },
    {
      "affiliations": [
        "Department of Obstetrics and Gynecology, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India"
      ],
      "name": "Shashank Shekhar"
    },
    {
      "affiliations": [
        "Department of Obstetrics and Gynecology, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India"
      ],
      "name": "Pratibha Singh"
    },
    {
      "affiliations": [
        "Department of Medical Genetics & Pediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India"
      ],
      "name": "Kuldeep Singh"
    }
  ],
  "title": "Dual pathology of parvovirus B19 infection and Aicardi–Goutières syndrome complicating non-immune hydrops fetalis",
  "uid": "ef1f6b5b-73bb-57a4-9112-980774e23878"
}