ABSTRACT
Objective: Adverse pregnancy outcomes are closely related to advanced maternal age (AMA; age at pregnancy ≥35 years). Little research has been reported on aneuploid abnormalities and pathogenic copy number variations (CNVs) affecting pregnancy outcomes in women with AMA. The purpose of this study was to assess CNVs associated with AMA in prenatal diagnosis to determine the characteristics of pathogenic CNVs and assist with genetic counseling of women with AMA. Methods: Among 277 fetuses of women with AMA, 218 (78.7%) were isolated AMA fetuses and 59 (21.3%) were non-isolated AMA fetuses and showed ultrasound anomalies from January 2021 to October 2022. Isolated AMA was defined as AMA cases without sonographic abnormalities. Non-isolated AMA was defined as AMA cases with sonographic abnormalities such as sonographic soft markers, widening of the lateral ventricles, or extracardiac structural anomalies. The amniotic fluid cells underwent routine karyotyping followed by single nucleotide polymorphism array (SNP-array) analysis. Results: Of the 277 AMA cases, karyotype analysis identified 20 chromosomal abnormalities. As well as 12 cases of chromosomal abnormalities corresponded to routine karyotyping, the SNP array identified an additional 14 cases of CNVs with normal karyotyping results. There were five pathogenetic CNVs, seven variations of uncertain clinical significance (VOUS), and two benign CNVs. The detection rate of abnormal CNVs in non-isolated AMA cases was increasing (13/59; 22%) than in isolated AMA cases (13/218; 5.96%) (p < 0.001). We also determined that pathogenic CNVs affected the rate of pregnancy termination in women with AMA. Conclusion: Aneuploid abnormalities and pathogenic CNVs affect pregnancy outcomes in women with AMA. SNP array had a higher detection rate of genetic variation than did karyotyping and is an important supplement to karyotype analysis, which enables better informed clinical consultation and clinical decision-making.
ABSTRACT
Objective:To explore and analyze the effect and indication of hormone replacement therapyï¼HRTï¼ in perimenopausal women with chronic tinnitus. Methods:The perimenopausal women with chronic tinnitus were divided into mild group and moderate to severe group according to Kupperman score of menopause, and then were divided into treatment group and untreated group according to whether they received MHT treatment or not. The serum 5-HT level, tinnitus handicap inventory ï¼THIï¼ and Pittsburgh sleep quality index ï¼PSQIï¼ were compared before and after treatment. Results:In moderate to severe perimenopausal tinnitus, the serum 5-HT level, THI and PSQI in the treatment group were statistically different before and after treatmentï¼P<0.05ï¼, and no significant difference was found in the untreated group. In mild perimenopausal tinnitus, there was no significant difference in 5-HT levels, THI and PSQI between the treated group and the untreated group before and after treatment. The 5-HT levels were correlated with THI. The lower the 5-HT level was, the more severe tinnitus was. Conclusion:HRT is helpful in the treatment of perimenopausal chronic tinnitus, especially in moderate to severe perimenopausal patients, and is recommended for clinical use.
