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

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*

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

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

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

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

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

OBJECTIVETo assess the value of quantitative fluorescence polymerase chain reaction (QF-PCR) for the detection of chromosomal aneuploidies in chorionic villus samples from early abortion.

METHODSOne hundred seventy seven specimens were collected. Genomic DNA was extracted, and aneuploidies of 8 chromosomes (13, 15, 16, 18, 21, 22, X and Y) were detected by QF-PCR analysis.

RESULTSThe QF-PCR was successful in 176 (99.4%) of the cases. All detection was completed in 48 hours. Sixty three(35.8%) cases have shown abnormal signals, which included 3 cases of trisomy 13, 3 cases of trisomy 15, 14 cases of trisomy 16, 2 cases of trisomy 18, 7 cases of trisomy 22, 3 cases of trisomy 21, 13 cases of 45,X, 1 case of 47,XXX, 2 cases of 47,XXY, 2 cases of haploidy, 11 cases of triploidy, 1 case of trisomy 16 and trisomy 22, 1 case of trisomy 21 and trisomy 22. Trisomy 16 was the most common chromosome aneuploidy (22.22%), which was followed by 45,X (20.63%), triploidy (17.46%) and trisomy 22 (11.11%).

CONCLUSIONQF-PCR is a quick and easy method for detecting chromosomal aneuploidies in chorionic villi tissue. The results can provide important information for genetic counseling for spontaneous abortions.

Abortion, Spontaneous ; diagnosis ; genetics ; Adult ; Aneuploidy ; Chorionic Villi ; chemistry ; Female ; Fluorescence ; Humans ; Pregnancy ; Prenatal Diagnosis ; Real-Time Polymerase Chain Reaction ; methods

OBJECTIVE: To validate quantitative fluorescent polymerase chain reaction (QF-PCR) via chorionic villus sampling (CVS) for the diagnosis of fetal aneuploidies. METHODS: We retrospectively reviewed the medical records of consecutive pregnant women who had undergone CVS at Cheil General Hospital between December 2009 and June 2014. Only cases with reported QF-PCR before long-term culture (LTC) for conventional cytogenetic analysis were included, and the results of these two methods were compared. RESULTS: A total of 383 pregnant women underwent QF-PCR and LTC via CVS during the study period and 403 CVS specimens were collected. The indications of CVS were as follows: abnormal first-trimester ultrasonographic findings, including increased fetal nuchal translucency (85.1%), advanced maternal age (6.8%), previous history of fetal anomalies (4.2%), and positive dual test results for trisomy 21 (3.9%). The results of QF-PCR via CVS were as follows: 76 (18.9%) cases were identified as trisomy 21 (36 cases), 18 (33 cases), or 13 (seven cases), and 4 (1.0%) cases were suspected to be mosaicism. All results of common autosomal trisomies by QF-PCR were consistent with those of LTC and there were no false-positive findings. Four cases suspected as mosaicism in QF-PCR were confirmed as non-mosaic trisomies of trisomy 21 (one case) or trisomy 18 (three cases) in LTC. CONCLUSION: QF-PCR via CVS has the advantage of rapid prenatal screening at an earlier stage of pregnancy for common chromosomal trisomies and thus can reduce the anxiety of parents. In particular, it can be helpful for pregnant women with increased fetal nuchal translucency or abnormal first-trimester ultrasonographic findings.
Aneuploidy* ; Anxiety ; Chorion* ; Chorionic Villi Sampling* ; Chorionic Villi* ; Cytogenetic Analysis ; Diagnosis ; Down Syndrome ; Female ; Fluorescence ; Hospitals, General ; Humans ; Maternal Age ; Medical Records ; Mosaicism ; Nuchal Translucency Measurement ; Parents ; Polymerase Chain Reaction* ; Pregnancy ; Pregnant Women ; Prenatal Diagnosis* ; Retrospective Studies ; Trisomy

Pulmonary placental transmogrification (PT) is a rare lung disease that takes on the histologic appearance of placental chorionic villi. We herein report a case of PT in a 66-year-old woman who presented with a single nodule on chest radiography performed during a routine health examination. She had no complaints of any symptoms. Chest radiography showed a focal ill-defined nodular opacity in the right lower lobe; chest computed tomography revealed a 17-mm lobulated, focal irregular mass with fissural retraction in the right lower lobe, suggestive of lung cancer. Pathology of a percutaneous needle aspiration biopsy revealed papillary structures resembling placental villi. These were lined by cytotrophoblast-like cells and syncytiotrophoblasts. This characteristic pathologic finding led to a diagnosis of PT. PT of the lung is found mainly in bullous or cystic lesions. However, this patient presented with a single nodule on chest radiography.
Aged ; Biopsy, Needle ; Chorionic Villi ; Diagnosis ; Female ; Humans ; Lung Diseases ; Lung Neoplasms ; Lung* ; Needles ; Pathology ; Placenta ; Radiography ; Thorax ; Trophoblasts