1.Application of flat-sided culture tubes during prenatal diagnosis.
Tiansheng LIU ; Hongqian HUANG ; Jiangyu SU ; Wangshang QIN ; Dongmei FEI ; Luping OUYANG ; Minpan HUANG ; Jinwu YU ; Yaqin LEI ; Shan OU ; Weijia SUN ; Qingming QIU ; Qian ZHENG
Chinese Journal of Medical Genetics 2023;40(10):1306-1311
OBJECTIVE:
To assess the value of using flat-sided culture tubes for preparing chromosomes through chorionic villi (CV) and amniotic fluid (AF) cell cultures during prenatal diagnosis.
METHODS:
From February to March 2020, 157 CV samples and 147 AF samples subjected to prenatal diagnosis at the Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region were selected as the study subjects. For each sample, one flat-sided tube and one flask culture were set up by following the standard protocols. The methods were evaluated by comparing the cell growth, experimental process, quality of chromosome preparation and costs.
RESULTS:
The success rates for the culturing of CV and AF samples by the flat-sided culture tube method were 97.45% (153/157) and 97.96% (144/147), respectively. By contrast, the success rates for the conventional flask method were 98.72% (155/157) for CV and 98.64% (145/147) for AF samples. No significant difference was found between the two methods (P > 0.05). The average harvest time required by the flat-sided culture tube method was 8.45 days for CV and 9.43 days for AF cultures, whilst the average harvest time for conventional flask method was 9.05 days and 9.54 days, respectively. The flat-sided culture tube method for CV had required significantly shorter average harvest time than the conventional method (P < 0.001). No statistical significant difference was found in the average harvest time for AF by the two methods (P > 0.05). The conventional culturing method had required three containers with two sample transfers. By contrast, the flat-sided culture tube method was carried out in one tube without any sample transfer. The average total amount of medium used was 3.91 mL for each flat-sided culture tube and 6.26 mL for each conventional flask.
CONCLUSION
The flat-sided culture tube method can provide a simple, cost-effective and error-reducing procedure for the CV and AF samples culture during prenatal diagnosis.
Child
;
Female
;
Pregnancy
;
Humans
;
China
;
Prenatal Diagnosis
;
Chorionic Villi Sampling
;
Amniotic Fluid
;
Cell Proliferation
2.Talin1 is highly expressed in the fallopian tube and chorionic villi to promote trophoblast invasion in tubal pregnancy.
Pin QIU ; Xin Yi LIN ; Gao Pi DENG
Journal of Southern Medical University 2022;42(4):610-617
OBJECTIVE:
To investigate the expression of Talin1 in the fallopian tube and chorionic villi in patients with tubal pregnancy and its role in regulating invasion and migration of trophoblasts.
METHODS:
Immunohistochemistry and Western blotting were used to detect the localization and expression level of Talin1 in the fallopian tube and chorionic villi in patients with tubal pregnancy and in women with normal pregnancy. In the cell experiment, HTR-8/SVneo cells was transfected with Talin1 siRNA and the changes in cell invasion and migration were assessed using scratch assay and Transwell assay. The expressions of MMP-2, MMP-9, N-cadherin and Snail in the transfected cells were detected by qRT-PCR and Western blotting.
RESULTS:
Positive expression of Talin1 was detected in both normal fallopian tube tissues and tissues from women tubal pregnancy, and its expression was localized mainly in the cytoplasm of cilia cells. The expression level of Talin1 was significantly higher in both the fallopian tube and chorionic villi in women with tubal pregnancy than in normal fallopian tube and chorionic villi samples (P < 0.01). In HTR-8/SVneo cells, transfection with Talin1 siRNA significantly inhibited cell invasion (P < 0.01) and migration (P < 0.05), down-regulated the expression of N-cadherin, MMP-2 and Snail (P < 0.05), and up-regulated the expression of MMP-9 in the cells (P < 0.05).
CONCLUSION
The expression of Talin1 in the fallopian tube and chorionic villi is significantly increased in women with tubal pregnancy, suggesting the association of Talin1-regulated trophoblast cell invasion with the occurrence of tubal pregnancy.
Cadherins/metabolism*
;
Cell Movement
;
Chorionic Villi/metabolism*
;
Fallopian Tubes/metabolism*
;
Female
;
Humans
;
Matrix Metalloproteinase 2/metabolism*
;
Matrix Metalloproteinase 9/metabolism*
;
Pregnancy
;
Pregnancy, Tubal/metabolism*
;
RNA, Small Interfering/metabolism*
;
Talin/metabolism*
;
Trophoblasts/metabolism*
3.Genetic testing of chorionic villi from abortuses during early pregnancy.
Yuxia YANG ; Suzhen QU ; Li WANG ; Yilin GUO ; Shuwen XUE ; Aojie CAI ; Siying CUI ; Xiangdong KONG
Chinese Journal of Medical Genetics 2019;36(6):547-551
OBJECTIVE:
To explore the prevalence and characteristics of chromosomal abnormalities in abortuses during early pregnancy with single nucleotide polymorphism microarray (SNP-array).
METHODS:
For 520 abortuses, copy number variations (CNVs) in chorionic villi were analyzed with SNP-array.
RESULTS:
In 510 (98.1%) of the samples, the analysis was successful. Among these, 57.6% (294/510) of the samples were found to harbor clinically significant chromosomal abnormalities. 38.8% of the samples (198/510) had a normal result. 2.4% (12/510) of the samples harbored benign CNVs, and 1.2% (6/510) harbored variants of uncertain significance (VOUS). Aneuploidies, polyploidies, pathogenic CNVs and uniparental disomies (UPD) had accounted for 75.2% (221/294), 13.9% (41/294), 8.2% (24/294), and 2.7% (8/294) of the samples, respectively. 45,XO was the most common finding, which was followed by trisomy 16 and trisomy 22. 69,XXY was the most common polyploidy.
CONCLUSION
Chromosomal abnormalities are the main cause for early miscarriage, among which aneuploidies are most common. The prevalence of aneuploidies is significantly increased among women over 35. SNP-array analysis has the advantage of high success rate, high resolution and great accuracy, but the clinical significance of microdeletions/microduplications found by SNP-array can be difficult for interpretation.
Chorionic Villi
;
Chromosome Aberrations
;
Chromosome Disorders
;
DNA Copy Number Variations
;
Female
;
Genetic Testing
;
Humans
;
Karyotyping
;
Polymorphism, Single Nucleotide
;
Pregnancy
4.Obstetrical Outcomes of Amniocentesis or Chorionic Villus Sampling in Dichorionic Twin Pregnancies
Mi Sun KIM ; Myoung Jin MOON ; Sukho KANG ; Sang Hee JUNG ; Sung Woon CHANG ; Hyo Jin KI ; Bohye KIM ; Eunhee AHN
Journal of Korean Medical Science 2019;34(18):e142-
BACKGROUND: Under certain situations, women with twin pregnancies may be counseled to undergo invasive prenatal diagnostic testing. Chorionic villus sampling and amniocentesis are the two generally performed invasive prenatal diagnostic tests. Studies comparing procedure-related fetal loss between first-trimester chorionic villus sampling and second-trimester amniocentesis in twin pregnancies are limited. This study aimed to evaluate the procedure-related fetal loss and the obstetrical outcomes of these two procedures, chorionic villus sampling and amniocentesis in twin pregnancies. METHODS: The data from dichorionic-diamniotic twin pregnancies on which first-trimester chorionic villus sampling (n = 54) or second-trimester amniocentesis (n = 170) was performed between December 2006 and January 2017 in a single center were retrospectively analyzed. The procedure-related fetal loss was classified as loss of one or all fetuses within 4 weeks of procedure, and overall fetal loss was classified as loss of one or all fetuses during the gestation. The groups were compared with respect to the procedure-related and obstetrical outcomes. RESULTS: The difference in proportion of procedure-related fetal loss rate (1.9% for chorionic villus sampling vs. 1.8% for amniocentesis; P = 1.000) and the overall fetal loss rate (7.4% for chorionic villus sampling vs. 4.7% for amniocentesis; P = 0.489) between the two groups was not significant. The mean gestational ages at delivery were not statistically significant. CONCLUSION: Both the overall fetal loss rate and the procedure-related fetal loss rate of chorionic villus sampling and amniocentesis in dichorionic twin pregnancies had no statistical significance. Both procedures can be safely used individually.
Amniocentesis
;
Chorion
;
Chorionic Villi Sampling
;
Chorionic Villi
;
Diagnostic Tests, Routine
;
Female
;
Fetus
;
Gestational Age
;
Humans
;
Pregnancy
;
Pregnancy, Twin
;
Retrospective Studies
;
Twins
5.Comparative preclinical assessment of the use of dehydrated human amnion/chorion membrane to repair perforated sinus membranes
Yun Young CHANG ; Su Hwan KIM ; Mi Seon GOH ; Jeong Ho YUN
Journal of Periodontal & Implant Science 2019;49(5):330-343
PURPOSE: The aim of this study was to evaluate the use of dehydrated human amnion/chorion membrane (dHACM) to repair perforated sinus membranes in rabbits. METHODS: Bilateral surgical windows (7.5-mm diameter) were prepared on the nasal bones of 14 rabbits. Standardized circular perforations (5-mm diameter) were made in the sinus membrane by manipulating implant twist drills. The perforated sinus membranes were repaired using dHACM or a resorbable collagen membrane (CM). The negative control (NC) group did not undergo perforated sinus membrane repair, while the positive control (PC) group underwent sinus augmentation without perforations. The same amount of deproteinized porcine bone mineral was grafted in all 4 groups. After 6 weeks, micro-computed tomography (micro-CT) and histomorphometric evaluations were conducted. RESULTS: The micro-CT analysis revealed that the total augmented volume was not significantly different among the groups. In the dHACM group, newly formed bone filled the augmented area with remaining biomaterials; however, non-ciliated flat epithelium and inflammatory cells were observed on the healed sinus membrane. Histometric analysis showed that the percentage of newly formed bone area in the dHACM group did not differ significantly from that in the CM group. The dHACM group showed a significantly higher percentage of newly formed bone area than the NC group, but there was no significant difference between the dHACM and PC groups. CONCLUSIONS: dHACM could be a feasible solution for repairing sinus membrane perforations that occur during sinus floor augmentation.
Amnion
;
Biocompatible Materials
;
Chorion
;
Collagen
;
Epithelium
;
Humans
;
Membranes
;
Miners
;
Nasal Bone
;
Rabbits
;
Sinus Floor Augmentation
;
Transplants
6.Alteration of heat shock protein 20 expression in preeclamptic patients and its effect in vascular and coagulation function.
Fanfan LI ; Mengzhou HE ; Meitao YANG ; Yao FAN ; Yun CHEN ; Xi XIA ; Yin XIE ; Dongrui DENG
Frontiers of Medicine 2018;12(5):542-549
Preeclampsia (PE) is a pregnancy-specific, multi-system disorder and the leading cause of maternal and perinatal morbidity and mortality in obstetrics worldwide. Excessive vasoconstriction and dysregulated coagulation function are closely associated with PE. Heat shock protein 20 (HSP20) is ubiquitously expressed under normal physiological conditions and has important roles in vascular dilatation and suppression of platelet aggregation. However, the role of HSP20 in the pathogenesis of PE remains unclear. In this study, we collected chorionic plate resistance arteries (CPAs) and serum from 118 healthy pregnant women and 80 women with PE and detected the levels of HSP20 and its phosphorylated form. Both HSP20 and phosphorylated HSP20 were downregulated in CPAs from women with PE. Comparison of the vasodilative ability of CPAs from the two groups showed impaired relaxation responses to acetyl choline in preeclamptic vessels. In addition to the reduced HSP20 in serum from women with PE, the platelet distribution width and mean platelet volume were also decreased, and the activated partial thromboplastin time and thromboplastin time were elevated.With regard to the vital roles of HSP20 in mediating vasorelaxation and coagulation function, the decreased HSP20 might contribute to the pathogenesis of PE.
Adult
;
Case-Control Studies
;
Chorion
;
blood supply
;
Female
;
HSP20 Heat-Shock Proteins
;
metabolism
;
Humans
;
Phosphorylation
;
Placenta
;
blood supply
;
Platelet Function Tests
;
Pre-Eclampsia
;
metabolism
;
Pregnancy
;
Vasoconstriction
;
Vasodilation
7.Human chorionic gonadotropin-administered natural cycle versus spontaneous ovulatory cycle in patients undergoing two pronuclear zygote frozen-thawed embryo transfer.
You Jung LEE ; Chung Hoon KIM ; Do Young KIM ; Jun Woo AHN ; Sung Hoon KIM ; Hee Dong CHAE ; Byung Moon KANG
Obstetrics & Gynecology Science 2018;61(2):247-252
OBJECTIVE: To compare human chorionic gonadotropin (HCG)-administered natural cycle with spontaneous ovulatory cycle in patients undergoing frozen-thawed embryo transfer (FTET) in natural cycles. METHODS: In this retrospective cohort study, we analyzed the clinical outcome of a total of 166 consecutive FTET cycles that were performed in either natural cycle controlled by HCG for ovulation triggering (HCG group, n=110) or natural cycle with spontaneous ovulation (control group, n=56) in 166 infertile patients between January 2009 and November 2013. RESULTS: There were no differences in patients' characteristics between the 2 groups. The numbers of oocytes retrieved, mature oocytes, fertilized oocytes, grade I or II embryos and frozen embryos in the previous in vitro fertilization (IVF) cycle in which embryos were frozen were comparable between the HCG and control groups. Significant differences were not also observed between the 2 groups in clinical pregnancy rate (CPR), embryo implantation rate, miscarriage rate, live birth rate and multiple CPR. However, the number of hospital visits for follicular monitoring was significantly fewer in the HCG group than in the control group (P < 0.001). CONCLUSION: Our results demonstrated that HCG administration for ovulation triggering in natural cycle reduces the number of hospital visits for follicular monitoring without any detrimental effect on FTET outcome when compared with spontaneous ovulatory cycles in infertile patients undergoing FTET in natural ovulatory cycles.
Abortion, Spontaneous
;
Cardiopulmonary Resuscitation
;
Chorion*
;
Chorionic Gonadotropin
;
Cohort Studies
;
Embryo Implantation
;
Embryo Transfer*
;
Embryonic Structures*
;
Female
;
Fertilization in Vitro
;
Humans*
;
Live Birth
;
Oocytes
;
Ovulation
;
Pregnancy
;
Pregnancy Rate
;
Retrospective Studies
;
Zygote*
8.Partial molar pregnancy and coexisting fetus with Turner syndrome: Case report and literature review.
Ji Eun PARK ; Ji Kwon PARK ; In Ae CHO ; Jong Chul BAEK
Journal of Genetic Medicine 2018;15(1):43-47
Partial hydatidiform mole and coexisting fetus is a rare entity with antecedent high risk of maternal and fetal complications, and risk of persistent trophoblastic disease in later life. Here, we report a case of twin pregnancy with live fetus identified as 45,X and normal placenta and another partial mole. Ultrasound scan at 10 weeks showed a hydrops fetus with a focal area of multicystic placenta. The patient underwent chorionic villus sampling and amniocentesis for chromosomal analysis, and the result was 45,X. Based on these finding, the patient then underwent induced abortion. Pathological examination (immunohistochemical staining) of the placenta confirmed the partial mole. This report suggests that careful prenatal ultrasonography and appropriate karyotyping in a molar pregnancy and coexisting fetus enable early diagnosis and may be beneficial for prognosis.
Abortion, Induced
;
Amniocentesis
;
Chorionic Villi Sampling
;
Early Diagnosis
;
Edema
;
Female
;
Fetus*
;
Humans
;
Hydatidiform Mole*
;
Karyotyping
;
Molar*
;
Placenta
;
Pregnancy
;
Pregnancy, Twin
;
Prognosis
;
Trophoblasts
;
Turner Syndrome*
;
Twins
;
Ultrasonography
;
Ultrasonography, Prenatal
9.Role of fetal ultrasound in prenatally diagnosed de novo balanced translocations.
Eui Sun SEONG ; Hye Jin YOUN ; Min Kyung PARK ; Hye Yeon BOO ; Bom Yi LEE ; Hyun Mee RYU ; You Jung HAN
Journal of Genetic Medicine 2018;15(1):8-12
PURPOSE: This study aimed to investigate fetal ultrasonographic findings in cases of prenatally diagnosed de novo balanced translocations and the role of fetal ultrasound in prenatal genetic counseling. MATERIALS AND METHODS: We collected cases with de novo balanced translocations that were confirmed in chorionic villus sampling, amniocentesis, and cordocentesis between 1995 and 2016. A detailed, high-resolution ultrasonography was performed for prediction of prognosis. Chromosomes from the parents of affected fetuses were also analyzed to determine whether the balanced translocations were de novo or inherited. RESULTS: Among 32,070 cases with prenatal cytogenetic analysis, 27 cases (1/1,188 incidence) with de novo balanced translocations were identified. Fourteen cases (51.9%) showed abnormal findings, and the frequency of major structural anomalies was 11.1%. Excluding the major structural anomalies, all mothers who continued pregnancies delivered healthy babies. CONCLUSION: Results of a detailed, high-resolution ultrasound examination are very important in genetic counseling for prenatally diagnosed de novo balanced translocations.
Amniocentesis
;
Chorionic Villi Sampling
;
Cordocentesis
;
Cytogenetic Analysis
;
Female
;
Fetus
;
Genetic Counseling
;
Humans
;
Mothers
;
Parents
;
Pregnancy
;
Prenatal Diagnosis
;
Prognosis
;
Translocation, Genetic
;
Ultrasonography*
;
Ultrasonography, Prenatal
10.Change in rates of prenatal tests for chromosomal abnormality over a 12-year period in women of advanced maternal age.
Soo Min KIM ; Hyun Hee KIM ; You Jung HAN ; June Seek CHOI ; Hyun Mee RYU ; Seongwoo YANG ; Min Hyoung KIM
Obstetrics & Gynecology Science 2018;61(4):453-460
OBJECTIVE: In 2007, the American College of Obstetricians and Gynecologists (ACOG) recommended that all pregnant women be offered screening or diagnostic tests for chromosomal abnormalities regardless of their age. Noninvasive prenatal testing (NIPT) for common chromosomal aneuploidies was introduced as a screening test in case of high-risk pregnancies. We assessed the rates of prenatal tests in women aged 35 years and older. METHODS: A retrospective study was conducted to compare the rates of amniocentesis, chorionic villus sampling (CVS), serum screening, and NIPT from January 2005 through March 2017 in women aged 35 years and older. We divided the initial 12 months after NIPT introduction into 4-month intervals, beginning in April 2016 through March 2017. RESULTS: The rates of amniocentesis were 56% before the ACOG statement, 38% between the ACOG statement and NIPT introduction, and 10% after NIPT introduction (P=0.001). The rates of CVS during the same periods were 0.5%, 2.1%, and 4.3% (P=0.016), respectively. The rates of serum screening were 44.2%, 61.3%, and 55.1% (P=0.049), respectively. During the 3 quarters after NIPT introduction, the rates of amniocentesis were 16.2%, 12.3%, and 7.3% (P=0.002), respectively; the rates of serum screening were 62%, 54%, and 46% (P=0.03), respectively; and the rates of NIPT were 19.9%, 30.3%, and 39.5% (P=0.007), respectively. The rates of CVS over the same periods were not significantly different. CONCLUSION: The ACOG statement and NIPT introduction significantly decreased the rate of amniocentesis in women of advanced maternal age. NIPT also reduced the rate of serum screening.
Amniocentesis
;
Aneuploidy
;
Chorionic Villi Sampling
;
Chromosome Aberrations*
;
Diagnostic Tests, Routine
;
Female
;
Humans
;
Mass Screening
;
Maternal Age*
;
Pregnancy
;
Pregnancy, High-Risk
;
Pregnant Women
;
Prenatal Diagnosis
;
Retrospective Studies

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