{
  "abstract": "Sex chromosome abnormalities may be suspected in patients with differences in sex development (DSD), abnormal puberty, infertility, premature ovarian failure, and atypical stature. The National Genomic Test Directory and ACGS Best Practice Guidelines for Constitutional Karyotype Analysis and Targeted Chromosome Analysis have resulted in changes to testing pathways for these indications. An audit was conducted of referrals to the West Midlands Genomics Laboratory for sex chromosome abnormalities from January 2020 up to the introduction of targeted chromosome analysis in October 2024, examining referral patterns, testing strategies, and outcomes. Common referral reasons included ambiguous genitalia in neonates, features of Turner syndrome (TS) or Klinefelter syndrome (KS) in pediatric patients, and fertility concerns in adults. Our findings show that chromosome analysis remains a cornerstone of genomic testing and supports the use of targeted chromosome analysis for suspected TS/KS, amenorrhea, delayed puberty and DSDs. The diagnostic yield of chromosome analysis was highest where there was strong clinical suspicion of TS/KS (31%/22%). The overall diagnostic yield varied substantially between referral reasons, e.g. 33% for non-isolated ambiguous genitalia and 5% for male infertility. This partly reflects differences in the range of molecular testing available and expanded testing may improve the diagnostic rate for some groups.",
  "authors": [
    {
      "affiliations": [
        "West Midlands Genomics Laboratory, Birmingham"
      ],
      "name": "Rabina Akhtar"
    },
    {
      "affiliations": [
        "West Midlands Genomics Laboratory, Birmingham"
      ],
      "name": "S Graham"
    },
    {
      "affiliations": [
        "West Midlands Genomics Laboratory, Birmingham"
      ],
      "name": "G Carey"
    }
  ],
  "title": "P26 Testing pathways and outcomes for patients with suspected sex chromosome abnormalities in the genomic era",
  "uid": "1a8b9ed9-7acf-5664-ab1f-5a15d659caaa"
}