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Extending the prenatal Noonan's phenotype by review of ultrasound and autopsy data.

Audrey LamourouxCoralie DaugeConstance WellsEve MoustyLucile PinsonHélène CavéYline CapriJean-Michel FaureFrédéric GrosjeanFanny SauvestreTania Attie-BitachFanny PelluardDavid Geneviève
Published in: Prenatal diagnosis (2022)
Increased nuchal translucency and nuchal fold is common in NS. Noonan Syndrome antenatal phenotype showed high in utero fetal death, hydrops, prenatal pleural effusion and pulmonary hypoplasia, although the inclusion of only deceased fetuses will have selected more severe phenotypes. Non-specific cardiovascular and neurological abnormalities should be added to NS antenatal phenotype. Next generation sequencing will help detect more genotypes, clarifying the prenatal phenotype and identifying genotype-phenotype correlations.
Keyphrases
  • case report
  • pregnant women
  • magnetic resonance imaging
  • pulmonary hypertension
  • early onset
  • machine learning
  • dna methylation
  • kidney transplantation
  • zika virus
  • big data
  • deep learning
  • data analysis
  • cell free