scholarly journals Estimation of Detection Rates of Aneuploidy in High-Risk Pregnancy Using an Approach Based on Nuchal Translucency and Non-Invasive Prenatal Testing: A Cohort Study

2015 ◽  
Vol 38 (4) ◽  
pp. 254-261 ◽  
Author(s):  
Asma Khalil ◽  
Negar Mahmoodian ◽  
Abhijit Kulkarni ◽  
Tessa Homfray ◽  
Aris Papageorghiou ◽  
...  
Keyword(s):  
Cohort Study ◽  
High Risk ◽  
Chorionic Villus ◽  
Prenatal Testing ◽  
Nuchal Translucency ◽  
Detection Rates ◽  
Non Invasive ◽  
Risk Pregnancy ◽  
Increased Risk ◽  
Clinically Significant

Objectives: The aim was to investigate aneuploidy detection using an approach based on nuchal translucency (NT) and non-invasive prenatal testing (NIPT). Methods: This was a cohort study including 5,306 high-risk pregnancies with NT measurements and chorionic villus samples (CVS) tested for full karyotype. Results: The fetal karyotype was normal in 4,172 (78.6%) cases and abnormal in 1,134 (21.4%), including 1,009 with a likely clinically significant adverse outcome. Universal CVS with full karyotyping would lead to the diagnosis of all clinically significant abnormalities. A policy of relying solely on NIPT would have led to the diagnosis of 88.9% of clinically significant abnormalities. A strategy whereby NIPT is the main method, with CVS reserved for cases with NT ≥3.0 mm, would require CVS in 21.7% of cases, identify 94.8% of significant abnormalities and avoid miscarriage in 41 pregnancies compared to CVS for all. Conclusions: A policy of NIPT for increased-risk cases and CVS with full karyotype if the NT was ≥3.0 mm reduced the risk of miscarriage yet still identified 95% of clinically significant aneuploidy.

scholarly journals OP03.04: Estimation of aneuploidy detection rates based on nuchal translucency and non-invasive prenatal testing (NIPT): a cohort study

2014 ◽  
Vol 44 (S1) ◽  
pp. 69-70
Author(s):  
A. Khalil ◽  
N. Mahmood ◽  
A. Kulkarni ◽  
T. Homfray ◽  
A.T. Papageorghiou ◽  
...  
Keyword(s):  
Cohort Study ◽  
Prenatal Testing ◽  
Nuchal Translucency ◽  
Detection Rates ◽  
Non Invasive

Non-invasive prenatal testing offered as part of a combined first-trimester screening program identifies tetrasomy 18p in a high-risk pregnancy

2016 ◽  
Vol 36 (12) ◽  
pp. 1112-1114 ◽  
Author(s):  
Dorte Launholt Lildballe ◽  
Ida Vogel ◽  
Ida Charlotte Bay Lund ◽  
Inger Stornes ◽  
Mette Warming Jørgensen ◽  
...  
Keyword(s):  
High Risk ◽  
Screening Program ◽  
Prenatal Testing ◽  
First Trimester ◽  
High Risk Pregnancy ◽  
First Trimester Screening ◽  
Non Invasive ◽  
Risk Pregnancy ◽  
Tetrasomy 18P ◽  
Trimester Screening

scholarly journals Discordant structural chromosomal aberrations in chorionic villi and amniotic fluid leading to a formation of an isochromosome 21: a case report

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Eini Westenius ◽  
Maria Pettersson ◽  
Erik Björck
Keyword(s):  
Amniotic Fluid ◽  
Chromosomal Aberrations ◽  
Trisomy 21 ◽  
Chorionic Villus ◽  
Prenatal Testing ◽  
Chorionic Villus Sampling ◽  
Chorionic Villi ◽  
Non Invasive ◽  
Increased Risk ◽  
A Cell

Abstract Background Fetoplacental discrepancies occur in approximately 1–2% of analyzed prenatal cases. They are typically due to confined placental mosaicism, where an aberration is observed in the placental cells but not found in the fetal cells. Confined placental mosaicism usually involves aneuploidies and more sparsely structural chromosomal aberrations. To the best of our knowledge, this is the first reported case of a discrepancy in the analyses of chorionic villus sampling and amniocentesis involving two different structural chromosomal aberrations of chromosome 21. Case presentation We report a 33-year-old woman who was referred for a non-invasive prenatal testing due to an increased risk of trisomy 21 gleaned from a combined ultrasound and blood test. The non-invasive prenatal testing showed an increased risk of trisomy 21 with a normalized coverage signal that did not match the fetal cell-free DNA fraction. Rapid aneuploidy detection performed on uncultured chorionic villi indicated mosaicism for trisomy 21. The follow-up analyses revealed discordant chromosomal aberrations: 46,XY,der(21)t(10;21)(p11.21;q10) in the analysis of the chorionic villus sampling and 46,XY, + 21,der(21;21)(q10;q10) in the analysis of the amniocentesis. Thus, the analyses indicated mosaicism for a cell line containing trisomy 21 and a cell line containing a partially duplicated short arm of chromosome 10 in the chorionic villi and complete trisomy 21 resulting from an isochromosome 21 in the amniotic fluid. The analyses of the lymphocytes and the fibroblasts of the woman were normal. Conclusions We propose a multiple-step mechanism as a possible theoretical explanation for the formation of these discordant structural chromosomal aberrations in the chorionic villi and amniotic fluid. With this case report, we want to highlight the importance of understanding the possible underlying embryological mechanisms when interpreting results from different prenatal analyses.

scholarly journals A foodborne outbreak of gastroenteritis caused by Norovirus and Bacillus cereus at a university in the Shunyi District of Beijing, China 2018: a retrospective cohort study

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Dongwan Chen ◽  
Yongjin Li ◽  
Jinchang Lv ◽  
Xiufeng Liu ◽  
Peng Gao ◽  
...  
Keyword(s):  
Cohort Study ◽  
High Risk ◽  
Bacillus Cereus ◽  
Retrospective Cohort Study ◽  
Retrospective Cohort ◽  
Rice Flour ◽  
School Canteen ◽  
Increased Risk ◽  
Rectal Swabs ◽  
Beijing China

Abstract Background On September 4, 2018, a boarding school in the Shunyi District of Beijing, China reported an outbreak of acute gastroenteritis. At least 209 suspected students caused of diarrhea and vomiting. The case was investigated, and control measures were taken to prevent further spread. Methods A retrospective cohort study was conducted among the school students and staff in order to test hypothesis that high risk of food served at the school canteen. We collected information on demographics, refectory records, person to person transmission by uniform epidemiological questionnaire. Risk ratios (RR) and 95% confidence intervals (CI) were calculated. Stool specimens of cases and canteen employees, retained food, water, and environmental swabs were investigated by laboratory analysis. Results We identified 209 cases (including 28 laboratory-confirmed cases) which occurred from August 29 to September 10. All cases were students, and the average age was 20, 52% were male. The outbreak lasted for 13 days, and peaked on September 5. Consumption of Drinks stall and Rice flour stall on September 1 (RR:3.4, 95%CI:1.5–7.8, and RR:7.6, 95%CI:2.8–20.2), Rice flour stall and Fish meal stall on September 2 (RR:4.0, 95%CI:1.2–13.6, and RR:4.6, 95%CI:1.7–12.5), muslim meal stall on September 4 (RR:2.7, 95%CI:1.3–5.4), Barbeque stall on September 5 (RR:3.0, 95%CI:1.2–7.0) were independently associated with increased risk of disease within the following 2 days. Among 35 specimens of rectal swabs or feces from students, 28 specimens were positive. Norovirus GI.6 alone was detected in 23 specimens, Bacillus cereus alone in 3 specimens and both norovirus GI.6 and Bacillus cereus in 2 specimens. Ten specimens of rectal swabs from canteen employees were positive for norovirus GI, and 2 specimens were positive for Bacillus cereus. Four retained food specimens were positive for Bacillus cereus, and environmental samples were negative for any viruses or bacteria. Conclusion Our investigation indicated that canteen employees were infected by two pathogens (norovirus and Bacillus cereus) and transmission may have been possible due to unhygienic practices. Student consumption of food or drink at high-risk stalls was determined as the probable cause of the outbreak.

scholarly journals POSSIBILITY FOR NON-INVASIVE DIAGNOSIS OF CHRONIC ENDOMETRITIS IN WOMEN AT RISK DURING PREGRAVID PREPARATION

2019 ◽  
Vol 72 (1) ◽  
pp. 64-67
Author(s):  
Olena О. Taranovska ◽  
Volodymyr К. Likhachov ◽  
Ludmyla М. Dobrovolska ◽  
Oleg G. Makarov ◽  
Yanina V. Shymanska
Keyword(s):  
High Risk ◽  
Luteal Phase ◽  
The Other ◽  
Menstrual Blood ◽  
Control Group ◽  
Simple Method ◽  
Chronic Endometritis ◽  
Non Invasive ◽  
Additional Group ◽  
Clinically Significant

Introduction: Detection and treatment of chronic endometritis (CE) is clinically significant, though involves intrauterine intervention to collect endometrium. The aim: To estimate the possibility to use fertility α2-microglobulin (FAMG) as the marker of the high risk for CE. Materials and methods: 70 women with CE who were planning pregnancy were tested for FAMG in menstrual blood. 40 of them received treatment of CE. The other 30 women refused from the proposed treatment. The control group involved 30 women who had neither CE nor luteal phase deficiency (LPD). Additional group (20 women) had LPD without CE. Results: The decrease of FAMG by 2.4 times was noted in women with CE (16.3 ± 3.9 μg/ml against 39.8 ± 8.3 μg/ml in the controls). In LPD the index was 5.6 times lower. After treatment the level of FAMG was increasing. Conclusions: The decrease of the amount of FAMG in menstrual blood is specific for women both with CE and LPD. Detection of abnormally low rates of FAMG in all women with CE enables, with the exception of absolute hypoprogesteronemia and LPD, using it as a simple method of estimation of the functional state of endometrium. Its application can be very useful both for non-invasive diagnosis of CE and subsequent evaluation of treatment of this pathology.

scholarly journals The Value of Non-Invasive Prenatal Testing in the Diagnosis of Birth Defects: Insights from a Large Multicentre Study in Southern China

2021 ◽  
Author(s):  
Meiying Cai ◽  
Na Lin ◽  
Xuemei Chen ◽  
Ying Li ◽  
Min Lin ◽  
...  
Keyword(s):  
Multicentre Study ◽  
Pregnant Women ◽  
Chromosomal Abnormalities ◽  
Southern China ◽  
Prenatal Testing ◽  
Copy Number Variations ◽  
Trisomy 13 ◽  
Detection Rates ◽  
Non Invasive ◽  
Large Multicentre Study

Abstract Non-invasive prenatal testing (NIPT) is a fast, safe, and non-disruptive diagnostic method. At present, few studies have evaluated the screening efficiency of NIPT positive predictive value (PPV) in study subjects. Here, the results of NIPT in pregnant women were retrospectively analysed, and the detection rate, PPV and follow-up data were evaluated to determine its clinical value. A large multicentre study was conducted involving 52,855 pregnant women who received NIPT. Based on gestational age, amniotic fluid or umbilical cord blood were extracted for simultaneous karyotype and chromosome microarray analysis (CMA) in NIPT-positive patients. Among the 52,855 cases, 754 were NIPT-positive, with a positivity rate of 1.4%. Karyotype analysis and/or CMA confirmed 323 cases of chromosomal abnormalities, with a PPV of 45.1%. PPV of Trisomy 21 (T21), Trisomy 18 (T18), Trisomy 13 (T13), sex chromosomal aneuploidies (SCA) and copy number variations (CNV) were 78.9%, 35.3%, 22.2%, 36.9% and 32.9%, respectively. The PPV of T21, T18, and T13 increased with age whereas, the PPV of SCA and CNVs had little correlation with age. The PPV was significantly high in patients with advanced age along with an abnormal ultrasound.NIPT had a high PPV for T21, and a low PPV for T13 and T18, while screening for SCA and CNVs showed clinical significance. However, in case of NIPT screening for SCA and CNVs, simultaneous karyotype and CMA should be performed to increase the detection rates. Interventional prenatal diagnosis is still required in NIPT-positive cases to avoid false positives or unnecessary termination of pregnancy.

scholarly journals INCREASED NUCHAL TRANSLUCENCY IN A FETUS WITH A NORMAL KARYOTYPE: CASE REPORT

2019 ◽  
Vol 2 (1) ◽  
pp. 59-61
Author(s):  
Cristina Moisei ◽  
Anca Lesnica ◽  
Romina Marina Sima ◽  
Liana Pleș
Keyword(s):  
Chorionic Villus ◽  
Normal Karyotype ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Trisomy 18 ◽  
Trisomy 13 ◽  
Chorionic Villus Sampling ◽  
Increased Risk ◽  
First Trimester Ultrasound ◽  
Increased Nuchal Translucency

Nuchal translucency (NT) is the normal fluid filled subcutaneous space measured at the back of the fetal neck measured in the late first trimester and early second trimester. Nuchal translucency screening can detect approximately 80% of fetuses with Down syndrome and other major aneuploidies with a rate of 5% of false positive results, but the merger of the NT screening with β-hCG and PAPP-A testing increases the detection rate to 90%. We present the case of a fetus with a NT of 49 mm detected at the first trimester ultrasound morphologic exam. The Kryptor test revealed a 1:35 risk for Trisomy 13 and 1:721 for Trisomy 18. We report the case of an investigated pregnancy with a NT of 49 mm detected at the first trimester ultrasound exam, with a risk of 1:35 for Trisomy 13 and 1:721 for Trisomy 18 calculated at the Kryptor test. A chorionic villus sampling was recommended and performed with a result of 46XY normal karyotype. The particularity of this case is represented by the increased nuchal translucency as well as an increased risk for trisomy 13 and 18 in a normal karyotype fetus that had a normal development in the second and third trimester with no pregnancy complications arising.

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