Objective:To assess the value of combined chromosomal karyotyping and chromosomal microarray analysis (CMA) and/or copy number variation sequencing (CNV-seq) for the prenatal diagnosis for women with advanced maternal ages, and to explore the challenges of prenatal genetic counseling brought by the types of fetal CNVs and uncertainty of related phenotypes.Methods:A retrospective analysis was carried out on 1 841 women with advanced maternal age who underwent interventional prenatal diagnosis at the Prenatal Diagnosis Center of Xiamen University Affiliated Women and Children′s Hospital from January 2017 to December 2020. Routine chromosomal karyotyping analysis and CMA/CNV-seq detection were carried out.Results:CMA/CNV-seq had detected pathogenic variants in 2 cases which had failed karyotyping analysis. Two hundred and twenty one fetal chromosomal abnormalities were detected by karyotyping analysis, among which 187 were detected by CMA/CNV-seq. CMA/CNV-seq analysis of 23 cases with balanced chromosome structural aberrations and 10 cases with low proportion mosaicisms (including a marker chromosome) had yielded a negative result. In addition, 26 cases (26/1 841, 1.4%) with pathogenic CNVs were discovered among those with a normal karyotype, of which 13 (50.0%) were recurrent CNVs associated with neurocognitive impairment, with 22q11.21 microdeletions and microduplications being the most common types (26.92%).Conclusion:The combination of karyotyping analysis and CMA/CNV-seq not only increased the rate of prenatal diagnosis, but also complemented with each other, which has facilitated genetic counseling and formulation of prenatal diagnosis strategy for the affected families.

OBJECTIVE: To investigate the perinatal clinical phenotype and genetic characteristics of two fetuses with ring chromosome 21 mosaicisms. METHODS: Two fetuses who were diagnosed at the Xiamen Maternal and Child Health Care Hospital in November 2021 were selected as the study subjects. Clinical data of the two fetuses were collected. Conventional G-banded karyotyping and chromosomal microarray analysis (CMA) were carried out for the fetuses and their parents. RESULTS: Prenatal ultrasonography of fetus 1 has revealed absence of nasal bone, ventricular septal defect, persistent left superior vena cava, and mild tricuspid regurgitation. Chromosomal karyotyping was 46,X?,dic r(21;21)(p12q22;q22p12)[41]/45,X?,-21[9]. CMA has revealed a 30.00 Mb quadruplication at 21q11.2q22.3 and a 3.00 Mb deletion at 21q22.3. For fetus 2, ultrasonography has revealed pointed echo of the nasal bone. The fetus was found to have a karyotype of 46,X?,r(21)(p12q22)[83]/45,X?,-21[14]/46,X?,dic r(21;21)(p12q22;q22p12)[3]. CMA has revealed a 5.10 Mb quadruplication at 21q22.12q22.3 and a 2.30 Mb deletion at 21q22.3. CONCLUSION The perinatal phenotype of the two fetuses with ring chromosome 21 mosaicisms is related to the duplication of chromosomal segments near the breakpoints of the chromosomal deletions. The combined chromosomal karyotyping and CMA has enabled prenatal diagnosis and genetic counseling for these families.
Pregnancy ; Female ; Humans ; Mosaicism ; Ring Chromosomes ; Vena Cava, Superior ; Chromosome Aberrations ; Prenatal Diagnosis ; Microarray Analysis ; Fetus/diagnostic imaging*

Numerous clinical practices and case studies have found that thickening of the nuchal transparent layer (NT) in fetuses is not only related to chromosomal diseases, but also closely related to adverse pregnancy outcomes such as chromosomal microdeletion/microduplication syndrome, fetal structural abnormalities, certain genetic syndromes, and intrauterine fetal death. With the introduction of new genetic testing techniques, for fetuses with NT thickening detected by ultrasound, the genetic causes of NT thickening in fetuses can be identified at the prenatal single gene level, accurately assessing fetal condition and prognosis, and providing a theoretical basis for couples to have another child. In order to further clarify the clinical significance and corresponding diagnostic pathways of fetal NT thickening in prenatal diagnosis, this article reviews the progress of fetal NT thickening in prenatal diagnosis in domestic and foreign literature.

Objective:To investigate the effects of aerobic exercise on blood glucose and insulin levels in chronic intermittent hypoxic(CIH)rats and the underlying mechanisms, and to provide new insights for the prevention and treatment of diabetes caused by CIH.Methods:SD rats were randomly divided into the blank control group, CIH control group and CIH exercise group.After adaptive feeding, a rat model of CIH was established.The CIH exercise group received non-weight bearing exercise training through swimming.After 4 weeks, all rats were sacrificed and levels of total antioxidant capacity(T-AOC), reactive oxygen species(ROS), malondialdehyde(MDA), fasting blood glucose(FPG)and fasting insulin(FINS)were measured.Results:Compared with the blank control group and CIH control group, levels of ROS, MDA, FPG, T-AOC, FINS and FPG were significantly different in the CIH exercise group( F=4.60, 5.03, 4.87, 4.52 and 6.42, P=0.021, 0.015, 0.017, 0.022 and 0.006). Compared with the blank control group, levels of ROS, MDA, FPG and FINS increased and levels of T-AOC declined in the CIH control and exercise groups(all P<0.05). Compared with the CIH control group, levels of ROS, MDA, FPG and FINS decreased and T-AOC levels increased in the CIH exercise group(all P<0.05). Conclusions:CIH increases blood glucose and insulin levels by activating the oxidative stress response.Aerobic exercise can reduce the impact of oxidative stress on blood glucose and insulin levels.

Objective:To investigate the ultrasonographic features and prognosis of fetal vascular anomalies.Methods:Thirty-one fetuses with vascular anomalies diagnosed from June 2013 to August 2018 in Changsha Hospital for Maternal and Child Health Care were retrospectively analyzed. The location, size, shape, internal echo and blood flow distribution of the lesions were observed by ultrasound carefully, and the prognosis was followed up and analyzed.Results:Among the 31 cases of fetal vascular anomalies, 10 cases were comfirmed by autopsy after induced labor, and 21 cases were confirmed by postpartum local observation or surgery and pathology. Among them, there were 4 cases of Klippel-Trenaunay syndrome (including 1 case of Parkes-Weber syndrome), 3 cases of hemangioma, 1 case of primary congenital lymphedema and 23 cases of lymphangioma. Thirty-one cases showed lesions coincident with ultrasound localization and diagnosis, including 9 cases of head and neck lesions, 15 cases of trunk lesions, 1 case of upper limb lesion and 6 cases of lower limb lesions. The blood flow spectra of arteriovenous fistulas were found in 3 cases of fetal lesions and no obvious blood flow signals were found in 28 cases of fetal lesions.Conclusions:Prenatal ultrasound examination and follow-up play an important role in the diagnosis and prognostic prediction of fetal vascular diseases. The prognosis of fetal vascular diseases is closely related to the location, size, effect on the surrounding tissue and shunt volume of the lesion.

Objective: To explore the genetic basis for a case of recurrent fetal congenital hydrocephalus. Methods: Next-generation sequencing was carried out for the fetus, the gravida and two of her sisters. Results: The fetus was found to harbor a c. 1765T>C (p.Tyr589His) mutation in exon 14 of the L1CAM gene, which was derived from the gravida. Conclusion Male fetuses with recurrent hydrocephalus should be subjected to testing of the L1CAM gene to facilitate genetic counseling and prenatal diagnosis.

OBJECTIVE: To explore the genetic basis for a case of recurrent fetal congenital hydrocephalus. METHODS: Next-generation sequencing was carried out for the fetus, the gravida and two of her sisters. RESULTS: The fetus was found to harbor a c.1765T>C (p.Tyr589His) mutation in exon 14 of the L1CAM gene, which was derived from the gravida. CONCLUSION Male fetuses with recurrent hydrocephalus should be subjected to testing of the L1CAM gene to facilitate genetic counseling and prenatal diagnosis.
DNA Mutational Analysis ; Female ; Fetus ; Genetic Diseases, X-Linked ; diagnosis ; genetics ; Humans ; Hydrocephalus ; diagnosis ; genetics ; Male ; Mutation ; Neural Cell Adhesion Molecule L1 ; genetics ; Pedigree ; Pregnancy

Objective To evaluate the efficacy of eucalyptol-limonene-pinene enteric capsule on stable chronic obstructive pulmonary disease (COPD) in the elderly.Methods A total of 120 patients with stable COPD were randomized into ELP group (n=63) with conventional treatment combined ELP and control group (n=57) with conventional treatment without ELP.Primary outcome was the number of exacerbations per year, and secondly outcomes were lung function parameters and St.George's Respiratory Questionnaire (SGRQ).Results After 1 year of treatment, numbers of exacerbations per patient per year were lower in ELP group than in control group (0.70 times/y vs.1.21 times/y, Z=-3.887, P=0.000).The proportion of exacerbation-free patients were 25.4％(16/63) in ELP group and 5.3％ (3/57) in control group (x2 =9.103, P=0.003).The differences in the forced vital capacity (FVC), forced expiratory volume in one second (FEV1), and FEV1/ FVC ratio (FEV1％) between 5 different time points measurements were statistically significant in both groups (ELP group: F=15.429, 36.389, 33.278, respectively, all P=0.000;control group: F=54.238, 94.213 and 83.774, respectively, all P=0.000).Difference in FEV1/FVC ratio between 5 different time point was statistically significant in control group(F=2.766, P=0.043), but not in ELP group(F=0.861, P=0.451).After treatment, SGRQ score was decreased in both group, and difference in symptom score was statistically significant between the two groups (t=2.109, P =0.037).The adverse reactions were found in 3 cases in ELP group, and in 2 cases in control group with no statistically significant difference between the two groups [3 (4.8％) vs.2 (3.5％), x2 =0.013, P=0.732].Conclusions Long-term oral administration of eucalyptol-limonene-pinene enteric capsule can significantly decrease exacerbation frequency, improve quality of life, delay the deterioration in lung function, and have good safety in elderly patients with stable COPD.

Objective To investigate the effect of β-lactam antibiotics on the false positive rate of the serum Aspergillus galactomannan (GM) assay in patients with lung diseases.Methods We selectively recruited 77 lung disease patients who did not meet the diagnostic criteria of invasive pulmonary Aspergillosis (IPA) and received different β-lactam antibiotics,while 41 patients without IPA who did not receive any antibiotic treatment were recruited as the control group.Serum samples for GM detection were collected from all participants.The rate of false-positive Aspergillus galactomannan was compared between the two groups.Results False-positive serum results were found in patients who received piperacillin-tazobactam (30.8％ or 8/26) and cefoperazone sulbactamand (27.8％ or 5/18).The rate of false-positive Aspergillus galactomannan in patients who receive β-lactam antibiotics were significantly higher than that in the control group (24.7％ or 19/77vs.7.3％ or 3/41,x2 =5.315,P=0.025).Taking false-positive serum Aspergillus galactomannan as the dependent variable and β-lactam antibiotic treatment as the independent variable,univariate logistic regression analysis showed that the rate of false-positive Aspergillus galactomannan in patients who received β-lactam antibiotics were 4.149 times more than that in the control group (OR=4.149,P=0.030).Conclusions The administration of β-lactam antibiotics may increase the occurrence of false-positive serum Aspergillus galactomannan,and physicians should be aware of this possible interference.

Objective To explore the expression of microRNA in Eaf2 knockout mice and the effect of Eaf2 on the apoptosis of human lens epithe?lial cells and the expression of microRNA in lens. Methods pEGFP?C1?Eaf2 was transfected into SRA01/04 cells using Lipofectamine 2000 to over express Eaf2 gene,and then the flow cytometry was used to detect cell apoptosis rate. And real time q?PCR was used to measure the expression of microRNA both in human lens epithelial cells and Eaf2 knockout mice. Results Compared with controls,the apoptosis rate of cells transfected with pEGFP?C1?Eaf2 was reduced,the expression of miR?125b and let?7a was significantly increased and miR?204 was decreased in cells transfect?ed with pEGFP?C1?Eaf2. Compared with controls,the expression of miR?125b and let?7a was lower and miR?204 was higher in Eaf2 knockout mice. Each result was statistically significant(P<0.01). Conclusion Eaf2 might inhibit apoptosis of human lens epithelial cells via regulating the expression of microRNA. Eaf2 may have a protective effect for the lens in the genesis of cataract.