Prenatal Diagnosis of the WAS R86H Sequence Variation in Heterozygous Twins

[摘要] A healthy 28-year-old woman was heterozygous for the Wiskott–Aldrich syndrome gene ( WAS ) sequence variation, and the syndrome-causing variant was inherited by her first-born son (Fig. 1⇓ ). The 2.5-year-old hemizygous boy developed characteristic features of the WAS, including eczema, thrombocytopenia, and recurrent infections of the lower respiratory tract from early infancy. The mother presented recently with a new pregnancy, and the abdominal ultrasound scan obtained at 7 weeks of gestation revealed that she had conceived twins. We counseled the mother on the complexity and risks of invasive prenatal diagnostic procedures and made it clear that the potential risk of disease …

[学科分类] 过敏症与临床免疫学