Department of Gynecology and Obstetrics, Centro Hospitalar Tâmega e Sousa, Porto, Portugal.
Rev Bras Ginecol Obstet. 2021 Sep;43(9):710-712. doi: 10.1055/s-0041-1735986. Epub 2021 Oct 20.
With the widespread uptake of noninvasive prenatal testing (NIPT), a larger cohort of women has access to fetal chromosomal sex, which increases the potential to identify prenatal sex discordance. The prenatal diagnosis of androgen insensitivity syndrome (AIS) is an incidental and rare finding. We wish to present the diagnosis of a prenatal index case after NIPT of cell-free fetal DNA and mismatch between fetal sex and ultrasound phenotype. In this particular case, the molecular analysis of the androgen receptor (AR) gene showed the presence of a pathogenic mutation, not previously reported, consistent with complete androgen insensitivity syndrome. Carrier testing for the mother revealed the presence of the same variant, confirming maternal hemizygous inheritance. Identification of the molecular basis of these genetic conditions enables the preimplantation or prenatal diagnosis in future pregnancies.
随着非侵入性产前检测（NIPT）的广泛应用，更多的女性能够获得胎儿染色体性别信息，这增加了识别产前性别不一致的可能性。雄激素不敏感综合征（AIS）的产前诊断是一种偶然且罕见的发现。我们希望报告一例在游离胎儿 DNA 的 NIPT 检测后，发现产前性染色体不一致的病例。在这个特殊的病例中，雄激素受体（AR）基因突变的分子分析结果显示存在一个先前未报道的致病性突变，与完全雄激素不敏感综合征相符。对母亲进行的携带者检测显示存在相同的变异，证实了母亲的半合子遗传。这些遗传疾病的分子基础的鉴定使未来妊娠能够进行植入前或产前诊断。
