Akinesia deformation sequence in a fetus suspected by prenatal ultrasound and confirmed after mid-term termination / 中华围产医学杂志
Chinese Journal of Perinatal Medicine
; (12): 218-221, 2022.
Artículo
en Chino
| WPRIM (Pacífico Occidental)
| ID: wpr-933905
Biblioteca responsable:
WPRO
ABSTRACT
We report a case of fetal akinesia deformation sequence (FADS), which was prenatally suspected on ultrasound and confirmed by whole exome sequencing and Sanger sequencing after mid-term termination. Prenatal ultrasonography revealed multiple abnormalities in a fetus at 21 +4 weeks of gestation, consisting of fixed posture of limbs, narrow thorax, markedly shrunken gastric vacuole, and thickened nuchal fold. After genetic counseling, the pregnancy was terminated, and the appearance of the fetus was consistent with the ultrasound findings. Whole exome sequencing and Sanger sequencing of the fetal tissue verified a compound heterozygous variation of the RAPSN gene--c.149_153delins AGATGGGCCGCTACAAGGAGATGG (p.V50Efs*114) and c.227T>C (p.L76P), which were inherited from the father and mother, respectively, ultimately confirming the diagnosis of FADS.
Texto completo:
Disponible
Base de datos:
WPRIM (Pacífico Occidental)
Idioma:
Chino
Revista:
Chinese Journal of Perinatal Medicine
Año:
2022
Tipo del documento:
Artículo