The vulva (plural: vulvas or vulvae) consists of the external female sex organs. 1 The word is derived from the Latin for covering. Details of the morphology and functions of the vulva are well understood but when it comes to explaining the anatomical dimensions of a normal vulva there is a huge information gap in textbooks. 2 As a result of the lack of largescale population-based studies on normal anatomy and the lack of accurate standards, the definition of vulval anatomy is still being debated.
Mitochondrial fission factor (MFF) gene mutations are rare mitochondrial fission disorders, resulting in autosomal recessive neurological disorders. We here report a rare case of MFF gene mutation running in a family which ultimately turned out to be a variant of unknown significance. A 29-year-old multigravida visited at 18-week gestation for prenatal genetic testing as her previous baby had cerebral palsy and global developmental delay. The exome sequencing of the affected baby revealed defective mitochondrial and peroxisomal fission 2 (AR-617086). On Sanger sequencing, the mother was homozygous and the father heterozygous for the same variant. In the current pregnancy, amniocentesis was done and the fetus was also homozygous for a similar mutation. The couple continued the pregnancy and delivered a healthy baby who had normal milestones at 11 months of age. As far as prenatal diagnostic testing is considered, our case is a real-world scenario, where patient expectations befuddle appropriate decision-making.
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