[Genetic analysis of two families with abnormal findings upon prenatal diagnosis].

Objective: To carry out genetic analysis on two families with carriers of small terminal translocations using karyotyping analysis and genomic copy number variation sequencing (CNV-seq).

Methods: Two couples undergoing prenatal diagnosis at the Tianjin Central Hospital of Obstetrics and Gynecology respectively on April 12, 2020 and December 17, 2021 were selected as the study subjects. With informed consent, amniotic fluid and peripheral blood samples were collected and subjected to conventional karyotyping and CNV-seq analysis for the detection of chromosomal microdeletion/duplications.

Improvement of Inflammation and Abnormal Vascularization by TSP1 Treatment Combined with ADSCs Transplantation in Mice with Induced Polycystic Ovary Syndrome.

Polycystic ovary syndrome (PCOS) is a common gynecological endocrine disease with a certain degree of chronic inflammation and abnormal ovarian angiogenesis in reproductive women. Mesenchymal stem cells (MSCs) have potent immunomodulatory properties to regulate ovarian function, while thrombospondin 1 (TSP1) improves the abnormal formation of ovarian vessels. The present study investigated the efficacy of the combined use of adipose-derived mesenchymal stem cells (ADSCs) and TSP1 in PCOS mice.

MicroRNAs in Fetal Umbilical Cord Blood as a Prenatal Screening Tool for Congenital Heart Disease.

Objective: MicroRNAs (miRNAs) have been used as molecular markers for various diseases. This study aimed to evaluate the predicted performance of miRNAs in fetal umbilical cord blood for detecting congenital heart disease (CHD).

Methods: In this retrospective cohort study, a total of 60 pregnant women (involving 30 fetuses with CHD and 30 normal fetuses requiring induction of labor) were included.

[SNP microarray analysis of retention abortion chorionic villus].

Objective: To compare villus cell culture and karyotype analysis with single nucleotide polymorphism (SNP) microarray technology for the detection of chorionic villus chromosome in patients with retention of abortion.

Methods: Forty cases were analyzed with the two methods.

Results: Chorionic villus culturing was successful in 29 cases, among which 10 were found to have an abnormal karyotypes.

[Study on several ultrasound markers combined maternal serum biochemical markers to screen fetal chromosomal aneuploidy at 11 to 13(+)6 weeks of gestation].

Objective: To evaluate the efficiency of combined screening for chromosomal abnormalities in the first trimester and the ultrasound characteristics of these fetuses.

Methods: Retrospective study for 5000 singleton pregnancies by combined screening of trisomies 21, 18, 13 and Turner syndrome.Risk algorithms were developed for calculation of patient-specific risks for each of the three trisomies based on maternal age, fetal nuchal translucency, free β human chorionic gonadotropin and serum pregnancy associated plasma protein A at 11 to 13(+6) weeks of pregnant.

[Methylation status of FHIT gene in plasma and expression of FHIT gene in cancer tissue of cervical cancer patients].

Objective: To explore the methylation status of 5' CpG island of fragile histidine triad (FHIT) gene in plasma and the expression of FHIT protein in cancer tissue of cervical cancer patients.

Methods: Methylation-specific PCR (MS-PCR) was employed to examine methylation of FHIT gene in 151 plasma samples before treatment. The immunohistochemistry was used to the expression of FHIT protein in cancer tissues.

[Methylation status of the 5' CpG islands in FHIT gene in the plasma and tissues of cervical cancer patients].

To evaluate the methylation status of the 5' CpG islands in FHIT gene using plasma and tissue samples from cervical cancer patients and find a novel marker for non-invasive diagnosis of cervical cancer, methylation-specific PCR (MSP) was employed to examine CpG island methylation in FHIT gene in 151 pretreatment plasma samples and 30 tumor tissue samples obtained from cervical cancer patients. MSP product was cloned and sequenced directly. CpG island methylation of FHIT was detected in 31.

[Detection of fetal SRY gene in maternal plasma by real-time fluorescence quantitative PCR].

Objective: To isolate fetal DNA from maternal plasma and examine its fetal origin.

Methods: Fetal DNA in maternal plasma was isolated from 150 samples in the first trimester and mid-trimester of pregnancy, respectively. Real-time fluorescence quantitative polymerase chain reaction PCR (FQ-PCR) was used to determine sex-determining region Y (SRY) gene on Y chromosome.