Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases.

Background: Whole-exome sequencing (WES) significantly improves the diagnosis of the etiology of fetal structural anomalies. This study aims to evaluate the diagnostic value of prenatal WES and to investigate the pathogenic variants in structurally abnormal fetuses.

Methods: We recruited 144 fetuses with structural anomalies between 14 and 2020 and 15 December 2021 in the study.

Identification of a novel 10.3 kb deletion causing α-thalassemia by third-generation sequencing: Pedigree analysis and genetic diagnosis.

Background: α-thalassemia is an inherited blood disorder caused by variants in the α-globin gene cluster. Identification of the pathogenic α-globin gene variants is important for the diagnosis and management of thalassemia.

Methods: Two suspected families from Xiantao, Hubei Province were recruited in this study.

Perinatal outcomes of prenatal cases testing positive for trisomy 9 by noninvasive prenatal testing.

Objectives: To evaluate the performance of non-invasive prenatal testing (NIPT) for the detection of fetal trisomy 9 in prenatal screening and to investigate the prenatal appearances and genetic counseling of trisomy 9 fetuses.

Materials And Methods: The ultrasonography information, laboratory detection and pregnancy outcome of 16 cases of single pregnancy with trisomy 9 identified by NIPT who received amniocentesis in our prenatal diagnosis center from January 2018 to December 2020 were retrospectively analyzed.

Results: Among the 16 cases, 2 cases of trisomy 9, 3 cases of trisomy 9 mosaicism, 2 cases reporting of regions of homozygosity and 9 cases of false positive were diagnosed.

The prevalence and outcomes of α- and β-thalassemia among pregnant women in Hubei Province, Central China: An observational study.

There is no information concerning the prevalence of thalassemia among pregnant women in Hubei Province currently. This study is aimed to explore the prevalence of α- and β-thalassemia genotypes among pregnant women in Hubei Province, and to explore the clinically applicable screening approach, as well as to investigate the pregnancy outcomes of α- and β-thalassemia carriers.Pregnant participants were recruited from 4 hospitals for the screening of α- and β-thalassemia mutations in Hubei Province.

[Genetic Mutation Characteristics of Glucose-6-Phosphate Dehydrogenase Deficiency Patients in Wuhan].

Objective: To explore the genotype mutation characteristics of patients with glucose-6-phosphate dehydrogenase(G6PD) deficiency in Wuhan.

Methods: A total of 1 321 neonates with positive screening and outpatients were received G6PD mutation detection, 12 kinds of common G6PD mutation in Chinese people was detected by using multicolor melting curve analysis (MMCA) method, for those with negative results, the enzyme activity and clinical information were analyzed, sequencing was recommended after informed consent when it is necessary.

Results: Among 1321 patients, a total of 768 mutations were detected out, with a detection rate of 58.