Prenatal diagnosis of Neu-Laxova syndrome with compound heterozygous variants in PHGDH in a fetus presenting increased nuchal translucency and severe early-onset fetal growth restriction in a dichorionic diamniotic twin pregnancy

Key Points

• Severe early-onset fetal growth restriction (FGR) was identified, linked to a compound heterozygous variant in PHGDH.
• A novel missense variant NM_006623.4(PHGDH):c.1129G > C was defined, highlighting its potential pathogenicity.
• Trio whole-exome sequencing (WES) was recommended after normal SNP results, aiding in identifying underlying genetic issues.
• Diagnosis indicates the necessity for genetic guidance in future reproductive choices; further validation is needed.