Table 3

Summary of histopathological evaluations of the placentas of patients with NLRP7 mutations and at least one rare non-synonymous variant

Case IDPatient IDMutation or variantNClinical information and gross morphologyPathologist 1Pathologist 2
MoCa57428p.[V319I;G487E];[V319I;C399Y]2GA 22 weeks. SB of a morphologically normal male fetus, baby weight 465 g, 27 cm length, placenta 10×10 cm, 163 g, cord inserted centrally and measures 11 cm. No histopathology done on the baby. The patient had vaginal spotting since 10 weeks, high βHCG 160 ,625U/l, vaginal infection, antibiotic treatment, bleeding again around 21 weeks, lower abdominal pain few days before the stillbirth and was admitted to the hospital. Placenta removed manuallyImmature placenta, mild chorioamnionitis, decidual necrosisChorionitis, subchorionic haemorrhage
4GA 28 1/7 weeks, male live birth. True knot. Cervical incompetence, complete microbiology workout negative, cerclage, bed rest, and antibiotic treatment. Preterm labour and rupture of membranes. Chorioamnionitis. Caesarean section. Accessory lobe. The baby was later diagnosed with several congenital malformations described in Patients and MethodsImmature placenta, marked chorioamnionitis, surface vasculitis, funisitis, deciduitis; mural thrombosis of surface vesselsAdvanced villous maturation, acute vasculitis and funisitis. Severe acute chorioamnionitis and deciduitis
MoCa209804p.[V319I(;) R156Q]2GA 40 6/7 weeks, 3.3 kg female, 615 g, 18×14×2.5, cord 30 cm, 3 vesselsNormalNormal
2GA 39 3/7 weeks, 530 g, 17×16×3 cm, cord 44 cm, 3 vessels, false knotNormalNormal
MoCa182754p.[A481T];[=]1Live birth of a girlNormal placenta with minimal necrosis of deciduaDysmature stem villi and mild chorangiosis
MoCa207802p.[G487E];[=]2GA 41 weeks, 824 gChorangiomas in the surface near the insertion of the cordProminent perivillous fibrin aggregates, chorangiosis
MoCa210806p.[V319I(;) A481T]1GA 35 1/7 weeks, spontaneous vaginal delivery of a male baby, 720 g, 21×18.5×2.8, 76 cm, 1.4 cm, cord twisted, one knot, 3 vessels eccentricallyNormalChorangiotic changes identified
MoCa186758p.[V319I;G487E];[V319I;G487E]; [F250L(;)A481T]3GA 40 5/7 weeks, birth weight 3670 g, female, spontaneous vaginal delivery, placenta 20×20, cord 50 cm with 3 vessels, central insertionVery minimal chorangiosis and focal decidual necrosisChorangiotic changes identified, subamniotic cyst
2GA 38 2/7 weeks, birth weight 4045 g, placenta weight 650 g, cord 53 cm and 1.2 cm, 3 vesselsMinimal chorangiosis and mild chorioamnionitisOedematous and dysmature stem villi, chorangiosis
  • Abnormal features are underlined.

  • N, number of available histopathology blocks and slides; GA, gestational age; HCG, human chorionic gonadotrophin; SB, stillbirth.