OBJECTIVE: To assess the diagnostic value of whole exome sequencing (WES) for fetuses undergone induced abortion due to structural abnormalities. METHODS: A retrospective analysis was carried out on 43 aborted fetuses with negative results for copy number variation (CNV) testing from January 2023 to June 2024 at Northwest Women's and Children's Hospital. Trio-WES was carried out on the tissues from the aborted fetuses. This study has been approved by the Ethics Committee of the Hospital (Ethics No. 21-036). RESULTS: Among the 43 abortic fetuses, WES has detected pathogenic variants in 15 cases, with a total of 9 pathogenic variants, 5 suspected pathogenic variants, and 5 variants of uncertain significance. No definite pathogenic variants were detected in the remaining 28 cases. CONCLUSION For fetuses with structural abnormalities and negative results from CNV testing, WES can increase the diagnostic rate and facilitate etiological diagnosis and genetic counseling.
Humans ; Female ; Exome Sequencing/methods* ; Pregnancy ; DNA Copy Number Variations/genetics* ; Retrospective Studies ; Adult ; Prenatal Diagnosis/methods* ; Abortion, Induced ; Fetus/abnormalities* ; Congenital Abnormalities/diagnosis* ; Genetic Testing ; Aborted Fetus/abnormalities*

A case of thanatophoric dwarfism is presented. The previous gestation was polyhydramniotic and aborted spontaneously at 19th week. The aborted fetus showed marked micromelia. Present gestation was also polyhydramniotic and terminated by therapeutic abortion at 31th weeks due to skeletal deformity representing thanatophoric dwarfism. The fetus shows typical characteristics of thanatophoric dwarfism. Grossly the fetus shows marked micromelia, narrowed thorax with relatively normal length of trunk, and enlarged head. In the radiograph the femur shows characteristic ‘ telephone receiver’-like form. And the histological observations shows marked disturbances of the endochondral ossification.
Aborted Fetus ; Abortion, Therapeutic ; Congenital Abnormalities ; Female ; Femur ; Fetus ; Head ; Pregnancy ; Telephone ; Thanatophoric Dysplasia* ; Thorax