OBJECTIVES: Chromosomal abnormalities are the most common cause of spontaneous abortion (SA). This study aims to analyze the association between SA and chromosomal abnormalities in products of conception, and to compare the impact of different pregnancy modes and different numbers of previous abortions on chromosomal abnormalities, providing clinical consulting references. METHODS: A total of 1 345 SA patients treated at the Affiliated Women's Hospital of Jiangnan University (Wuxi Maternity and Child Health Care Hospital) between January 2019 and December 2023 were enrolled. According to the mode of conception, patients were divided into 2 groups: a spontaneous pregnancy group (S group, n=1242) and an assisted reproductive technology (ART)-conceived group (ART group, n=103). Based on the number of miscarriages, the S group was further subdivided into a spontaneous sporadic abortion group (S-1 group, n=780) and a spontaneous recurrent abortion group (S-2 group, n=462); the ART group was subdivided into an ART sporadic abortion group (ART-1 group, n=68) and an ART recurrent abortion group (ART-2 group, n=35). Chromosomal microarray analysis (CMA) was performed on products of conception. RESULTS: The incidence of numerical chromosomal abnormalities was 56.79% (443/780) in the S-1 group and 52.38% (242/462) in the S-2 group, while the incidence of structural abnormalities was 4.36% (34/780) and 7.36% (34/462), respectively. There was a statistically significant difference in structural abnormalities between the 2 groups (P<0.05). Among the spontaneous pregnancy SA cases, the incidence of numerical abnormalities decreased with increasing numbers of miscarriages, and was significantly lower in the group with ≥4 miscarriages compared to those with 1 or 2 miscarriages (both P<0.05). The incidence of structural abnormalities in groups with 1, 2, 3, and ≥4 miscarriages was 3.46%, 5.65%, 5.88%, and 4.35%, respectively, with no statistically significant differences among groups (all P>0.05). The incidence of pathogenic copy number variants (pCNVs) plus likely pathogenic copy number variants (LP-CNVs) gradually increases in the group with 1-3 miscarriages, and there was a statistically significant difference between the group with 1 miscarriage and the group with 2 miscarriages (P<0.05). In the ART group, the incidence of numerical abnormalities was 47.06% (32/68) in ART-1 and 37.14% (13/35) in ART-2, while structural abnormalities occurred in 2.94% (2/68) and 11.43% (4/35), respectively, with no significant differences between the groups (both P>0.05). There were no statistically significant differences in the incidence of numerical or structural abnormalities between the S-1 and ART-1 groups, or between the S-2 and ART-2 groups (all P>0.05). CONCLUSIONS Chromosomal numerical and structural abnormalities are common in SA patients from both spontaneous and ART-conceived pregnancies. Attention should be paid to patients with recurrent miscarriage in genetic investigation.
Humans ; Female ; Pregnancy ; Chromosome Aberrations/statistics & numerical data* ; Abortion, Spontaneous/epidemiology* ; Adult ; Reproductive Techniques, Assisted/adverse effects* ; Abortion, Habitual/genetics* ; Fertilization

OBJECTIVE: Patients with 22q11.2 microduplications have highly variable clinical phenotypes. The clinical manifestations and prognosis of 19 fetuses carrying 22q11.2 microduplications were analyzed. METHODS: The fetuses were analyzed by single nucleotide polymorphism array (SNP array), which was followed by parental validation. Pregnancy outcome and clinical features of the newborns were analyzed in order to delineate genotype-phenotype correlation. RESULTS: Two fetuses were identified by karyotyping analysis of amniotic fluid samples. SNP array revealed that all have carried a 468.8 kb~3.4 Mb duplication in 22q11.2 region. Two couples have refused parental verification. Seven cases were inherited from the mother, 6 were from the father, and 4 cases were de novo in origin. Three couples opted termination of the pregnancy. One fetus perished at birth. Five newborns showed delayed growth, the remaining 10 were normal. CONCLUSION The prenatal phenotype of fetuses carrying 22q11.2 microduplications are nonspecific, and the phenotypes of survivors may become more diverse along with increased age. Professional evaluation and long-term follow-up should be recommended.
Female ; Fetus ; Genetic Counseling ; Humans ; Infant, Newborn ; Karyotyping ; Phenotype ; Pregnancy ; Prenatal Diagnosis

AIM: To investigate the effect of exercise stress on chronic cigarette smoking-induced downregulation of expression of large-conductance calcium-activated potassium channel (BK_(Ca)) and voltage-dependent delayed rectifier potassium channel (Kv1.5) in rat bronchial smooth muscle cells. METHODS: Rats were divided into 3 groups: normal control, smoking control and smoking plus exercise training group. The alteration of airway responsiveness and plasma cortisol level were detected, and potassium channel expression and pathological changes in lung tissue were determined with HE staining, immunohistochemistry, in situ hybridization and Western blot techniques. RESULTS: (1) Cigarette smoking induced an increase in airway responsiveness, smoking plus exercise lead to a decrease in airway responsiveness in contrast to smoking control group; (2) Plasma level of cortisol determined immediately after exercise was higher than that determined before exercise; (3) HE staining showed that there was severe chronic pulmonary inflammatory response in smoking control group, which was slight in the smoking plus exercise group; (4) The protein and mRNA expression of BK_(Ca) in cigarette smoking group were less than that in control group in BSMC, the mRNA expression of BK_(Ca) in exercise group were higher than that in smoking group; (5) The protein and mRNA expression of Kv1.5 in smoking group were less than that in control group in BSMC, and expression of Kv1.5 in exercise group was higher than that in smoking group in bronchioli. CONCLUSION: Proper exercise training can increase the expression of potassium channel BK_(Ca) and Kv1.5, and increase the cortisol secretion, which may contribute to the decreasing of airway hyperresponsiveness induced by cigarette smoking. [

Objective To know the implementary circs and short-dated effects of cooking stoves improvement in reducing fluoride level in the endemic fluorosis areas and to offer the background information and scientific basis for continuing the development of cooking stoves improvement in reducing fluoride level. Methods To do the surveys in the households, 769 families were selected and investigated from 38 000 peasant families in the program, by cluster sampling with 2% sample rate and 70 families were randomly selected from them, the fluoride levels in the air, foodstuff, non-staple food was determined. Results 98.7% of the families in the cooking stoves improvement areas could rightly use the improved stove. The fluoride levels in corn and hot peppers were greatly improved in county A compared with that in 2000, but the fluoride levels in the air, foodstuff, non-staple food still exceeded the standard limit, not all reached the national standard. Conclusion The headstream interventions measure in coal-burning type endemic fluorosis areas is effective. Controlling the fluoride pollution of capsicum and tea is necessary, the production methods must be improved. The health education and management should be strengthened for reducing fluoride level in the investigated areas.