OBJECTIVE: To carry out pathological and genetic analyses on a fetus with intrauterine growth restriction and death during second trimester after induced abortion. METHODS: A fetus undergone induced abortion due to intrauterine growth restriction and death during second trimester at the the Seventh Affiliated Hospital of Sun Yat-Sen University in 2024 was selected as the study subject. Clinical data of the pregnancy were collected. DNA was extracted from tissues from the aborted fetus and peripheral blood samples from its parents. Chromosomal microarray analysis and whole exome sequencing were carried out. Candidate variants were verified by Sanger sequencing. Following abortion, routine autopsy and pathological analysis were conducted. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: KY-2025-334-01). RESULTS: The aborted fetus was a male and harbored compound heterozygous nonsense variants of the TH gene (c.457C>T/p.Arg153* and c.694C>T/p.Gln232*), for which both parents were heterozygous carriers. Autopsy and pathological analysis revealed that the fetus had pathological features including loose arrangement of myocardial fibers and congestion in the liver. CONCLUSION Biallelic null variants of the TH gene may cause heart failure by affecting the development of cardiovascular system, which in turn may lead to intrauterine death. This study has provided new clues for the molecular diagnosis of stillbirth and recurrent pregnancy loss.
Humans ; Female ; Pregnancy ; Male ; Heterozygote ; Codon, Nonsense/genetics* ; Fetal Growth Retardation/pathology* ; Adult ; Stillbirth/genetics*

OBJECTIVE: To explore the methods to detect and intervene children's late-onset hearing loss early which are suitable for basic-level hospitals. METHOD: Udiology and imaging diagnosis had been given to the children who passed the newborn hearing screening but showed auditory behavior disorders in the growth process, and individualized interventions were given according to the results of diagnosis. Seven children with high risk for hereditary deafness were sent to superior hospital and had molecular screening of common mutations of inherited deafness carried out, then corresponding prevention guidance and intervention were given to them. RESULT: Fifty-two cases with late-onset hearing loss or verbal disorders were detected by auditory behavior observations,including 4 cases of auditory neuropathy, 4 cases of unilateral sensorineural deafness, 27 cases of secretory otitis media. 13 cases of bilateral sensorineural deafness and 4 cases of autism. Seven newborns with high risk of hereditary deafness were sent to the Third Affiliated Hospital of Sun Yat-Sen University and received molecular screening of common mutations of inherited deafness. One case with GJB2 compound heterozygous mutations was detected and followed up to 4 years old, he was found bilateral moderate hearing loss and accepted the hearing aids at 2 years old. Mitochondrial DNA 1555 a > G heterogeneity mutation in 2 cases and GJB2 235 delC single heterozygous mutations in 3 cases, no mutation in 1 case, all these 6 cases have been followed-up until now, their hearing are normal. CONCLUSION Children's auditory behavior observations and the superior hospitals referral performing high risk individual screening for newborns with high risk for hereditary deafness can detect children's late-onset hearing loss in time, this model is suitable for basic-level hospitals.
Behavior Observation Techniques ; Child ; Connexin 26 ; Connexins ; genetics ; DNA Mutational Analysis ; DNA, Mitochondrial ; genetics ; Deafness ; diagnosis ; genetics ; Early Diagnosis ; Genetic Testing ; Hearing Tests ; Heterozygote ; Humans ; Infant, Newborn ; Male ; Mutation