Objective:To investigate the prevalence of abnormal chromosomal karyotype in amniotic fluid cells from penatal fetuses in the Huaibei Region and to analyze the detection rates of abnormal chromosomal karyotype across different populations based on indications for prenatal diagnosis.Methods:This study is a retrospective analysis. A total of 883 pregnant women who visited the Prenatal Diagnosis Center at Huaibei Maternal and Child Health Care Hospital between January 2018 and December 2022 were included in this study. All participants had indications for prenatal diagnosis and underwent sterile amniocentesis under ultrasound guidance. Amniotic fluid was collected for dual culture of amniotic fluid cells and chromosomal karyotype analysis.Results:The success rate of amniotic fluid specimen culture was 99.55% (879/883). The detection rate of abnormal karyotypes was 9.22% (81/879), with numerical abnormalities accounting for 76.54% (62/81), structural abnormalities for 17.28% (14/81), and chimerism for 6.17% (5/81). The detection rates of abnormal karyotypes based on various prenatal diagnostic indications are summarized below: 2.56% (8/313) in the high-risk group for Down syndrome screening, 36.57% (49/134) in the high-risk group for non-invasive prenatal testing, 4.23% (9/213) in the group with abnormal B-ultrasound findings, 6.90% (10/145) in the advanced age group (≥ 35 years), 25.00% (4/16) in the group with chromosomal abnormalities in either the mother or her partner, and 1.72% (1/58) in the group with adverse pregnancy outcomes.Conclusion:Prenatal diagnosis is of great significance for detecting chromosomal abnormalities in fetuses. In the Huaibei Region, numerical abnormalities account for the highest proportion of detected prenatal fetal chromosomal abnormalities. The detection rates vary among different prenatal diagnostic indication groups, with non-invasive prenatal testing demonstrating the highest sensitivity.

Objective:To investigate the prevalence of abnormal chromosomal karyotype in amniotic fluid cells from penatal fetuses in the Huaibei Region and to analyze the detection rates of abnormal chromosomal karyotype across different populations based on indications for prenatal diagnosis.Methods:This study is a retrospective analysis. A total of 883 pregnant women who visited the Prenatal Diagnosis Center at Huaibei Maternal and Child Health Care Hospital between January 2018 and December 2022 were included in this study. All participants had indications for prenatal diagnosis and underwent sterile amniocentesis under ultrasound guidance. Amniotic fluid was collected for dual culture of amniotic fluid cells and chromosomal karyotype analysis.Results:The success rate of amniotic fluid specimen culture was 99.55% (879/883). The detection rate of abnormal karyotypes was 9.22% (81/879), with numerical abnormalities accounting for 76.54% (62/81), structural abnormalities for 17.28% (14/81), and chimerism for 6.17% (5/81). The detection rates of abnormal karyotypes based on various prenatal diagnostic indications are summarized below: 2.56% (8/313) in the high-risk group for Down syndrome screening, 36.57% (49/134) in the high-risk group for non-invasive prenatal testing, 4.23% (9/213) in the group with abnormal B-ultrasound findings, 6.90% (10/145) in the advanced age group (≥ 35 years), 25.00% (4/16) in the group with chromosomal abnormalities in either the mother or her partner, and 1.72% (1/58) in the group with adverse pregnancy outcomes.Conclusion:Prenatal diagnosis is of great significance for detecting chromosomal abnormalities in fetuses. In the Huaibei Region, numerical abnormalities account for the highest proportion of detected prenatal fetal chromosomal abnormalities. The detection rates vary among different prenatal diagnostic indication groups, with non-invasive prenatal testing demonstrating the highest sensitivity.

Objective To investigate the relationship between the homocysteine,sperm DNA fragmentation index and sperm counts of male with severe impaired spermatoqenesis.Methods From December 2015 to February 2017,56 male patients with severe impaired spermatoqenesis were enrolled in the study.The patients were divided into two groups according to the WHO criteria:severe oligozoospermia and azoospermia group (n =25) and oligoasthenoteratozoospermia group (n =31),and the control group was a male with no reproductive impairment (n=27).The sperm parameters were analyzed by using the computer automatic semen analyzer,sperm DNA fragmentation index and serum Hcy level were detected by sperm chromatin diffusion method and enzyme colorimetric method.Results The median of Sperm DNA fragmentation index and homocysteine level in control groups were 33％ [95％CI(29.0％ ～34.4％)] and 13.2 μmol/L [95％CI(12.4 μmol/L～14.2 μmol/L)],and in severe spermatogenesis groups in these two indicators were 21％ [95％CI(19.0％ ～24.0％)] and 8.9 mol/L [95％CI(8.4 μmol/L～ 9.4 μmol/L)],respectively.The results of these two items were higher than the control group,the difference was statistically significant (t=6.793～7.543,P=0.000).Sperm survival rate in normal control group and severe spermatogenesis group was 71％ [95％ CI(67.8％ ～75.1％)] and 57％[95％CI(52.3％ ～58.0％)],respectively,and the difference was statistically significant (t=-8.475,P=0.000).Sperm DNA fragmentation index was positively correlated with serum Hcy level and sperm concentration,Passing-Bablok regression analysis was:Y=10.705 +0.053X,Y=21.071+0.286X,and Hcy level was negatively correlated with sperm concentration.Conclusion The increase of Hcy level and sperm DNA fragmentation index may be an importantcause of male with severe impaired spermatoqenesis,but the specific mechanism remains to be further studied.