scholarly journals Pregnancy Outcomes in Trisomy 16 Mosaicism Pregnancies Detected by NIPT, A Series of Case Reports

2021 ◽  
Author(s):  
Haishan Peng ◽  
Jiexia Yang ◽  
Dongmei Wang ◽  
Fangfang Guo ◽  
Yaping Hou ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Retrospective Analysis ◽  
Pregnancy Outcomes ◽  
False Positive ◽  
Prenatal Screening ◽  
Case Reports ◽  
True Positive ◽  
Trisomy 16 ◽  
Low Weight

Abstract Trisomy 16 s often associated with a high risk of abnormal outcome. A retrospective analysis of 14 cases with T16 high risk in NIPT, and all had undergone prenatal diagnosis, including karyotype and CMA. NIPT had detected 11 of T16, 2 of T16 mosaisism, and 1of more Chr. 16. Prenatal diagnosis confirmed 5 true positive cases and 9 false positive cases. In the 5 true positive cases, 3 out of 5 cases had ultrasound abnormality. In the 9 false positive cases, all the pregnancies continued. All the pregnancies were born with low weight (<2.5kg) except case 7. There were two pregnancies with premature, which suggested that CPM 16 pregnancies may be at higher risk for preterm delivery. NIPT could serve as a fast and early prenatal screening to provide guidance for pregnancy and termination of pregnancy is medically safer when it is performed in the earlier pregnancy.

scholarly journals Outcomes of pregnancies with trisomy 16 mosaicism detected by NIPT: a series of case reports

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Haishan Peng ◽  
Jiexia Yang ◽  
Dongmei Wang ◽  
Fangfang Guo ◽  
Yaping Hou ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
False Positive ◽  
Case Reports ◽  
Screening Method ◽  
Prenatal Testing ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
True Positive ◽  
Trisomy 16

Abstract Background Trisomy 16 (T16) is thought to be the most frequent chromosome abnormality at conception, which is often associated with a high risk of abnormal outcomes. Methods A retrospective analysis of 14 cases with high risk of T16 by noninvasive prenatal testing (NIPT) was conducted. All cases in the analysis involved prenatal diagnosis, karyotyping and chromosomal microarray analysis. Case reports NIPT detected 12 cases of T16 and 2 cases of T16 mosaicism. Prenatal diagnosis confirmed 5 true positive cases and 9 false positive cases. Among the 5 true positive cases, 3 cases had ultrasound abnormalities. All of the 9 false positive cases continued their pregnancies. The newborns who were from these 9 false positive cases except 1 case (case 7) had low birth weights (< 2.5 kg) and there were also 2 premature deliveries. Conclusion NIPT serves as a fast and early prenatal screening method, giving clues to chromosome abnormalities and providing guidance for managing pregnancy. Confined placental mosaicism in 16 pregnancies may be at higher risk for preterm delivery.

Clinical significance of prenatal diagnosis of macrosomia by ultrasound

2014 ◽  
Vol 63 (3) ◽  
pp. 12-20
Author(s):  
Irina Yuryevna Bayeva
Keyword(s):  
Birth Weight ◽  
Prenatal Diagnosis ◽  
False Positive ◽  
False Negative ◽  
Fetal Weight ◽  
True Positive ◽  
Perinatal Complications ◽  
True Negative ◽  
Average Accuracy ◽  
Study Population

Оbjective: Establish the diagnostic value of ultrasound examination in prenatal diagnosis of macrosomia among the women without diabetes and to determine its effect on birth outcomes. Мethods: This is a retrospective cohort study done at the Orenburg municipal perinatal center and maternity hospital № 2 since 2006 to 2012. In this study 3760 pregnant women were analyzed who delivered term, singleton, live born infants. The estimated fetal sonographic weight by the formula Hadlock’s was obtained within the last week prior to delivery. The study population was divided into 4 groups (true positive, true negative, false positive, false negative) according to the estimated fetal weight (EFW) and regarding the birth weight (BW). Receiver-operating characteristics (ROC) curves were generated to compare the prediction of macrosomia when using different observation methods. Sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV) and accuracy were calculated. The mean value of two groups were compared using two sample t test and χ² test for comparison of proportions. Results: In order to assess the accuracy of the ultrasound in prenatal diagnosis of macrosomia the study population was divided into 4 groups according to the estimated fetal weight (EFW) and regarding the birth weight (BW): true positive (n-147), false negative (n-229 ), false positive (n-353), true negative (n-3031). Results of the study showed no statistically significant differences between the birth weight and estimated fetal weifht by ultrasound alone only in the macrosomia group with true-positive results (p = 0.9). In applying the ROC (Receiver Operating Characteristic curve) performance analysis sensitivity and spesificity in the prediction of the macrosomia by ultrasound revealed the average predictive power of the method. Area under the curve (Area under ROC curve, AUC) made 0.7295 (95 % CI: 0.695-0.781), which corresponds to a predetermined average accuracy. The accuracy of macrosomia prediction by ultrasound methods was 90 %, sensitivity - 35 %, specificity - 93,5 %. Сesarian sections were performed for 40 % of the pregnant women, where fetal macrosomia was truly ruled in (true positive) and 16% of the women who delivered normal weight infants (true negative). Overestimation of fetal weight (false positive) has led to the 30 % rate of cesarean sections. Underestimation of fetal weight (false negative) has decreased to the 24% rate of cesarean sections but in this case perinatal complications have increased. Conclusion: Results showed an average accuracy in predicting macrosomia by the formula Hadlock’s. The results of the study have proved that the inappropriate prediction macrosomia of fetal weight has influence on the mode of delivery. Overestimation of fetal weight has led the proportion of cesarian sections. Underestimation of fetal macrosomia has increased perinatal complications.

scholarly journals Prenatal diagnosis of 2193 pregnant women with invasive indications for chromosomal abnormalities in southern China: a retrospective study

2020 ◽  
Author(s):  
Xiaodong Gu ◽  
Sudong Liu ◽  
Huaxian Wang ◽  
Ruiqiang Weng ◽  
Xuemin Guo ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Pregnant Women ◽  
Genetic Screening ◽  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
Prenatal Testing ◽  
Chromosome Abnormalities ◽  
Screening Methods ◽  
Non Invasive

Abstract Background: Although a variety of non-invasive techniques are used for prenatal genetic screening and diagnosis, our knowledge remains limited regarding the relationship between high-risk prenatal indications and fetal chromosomal abnormalities.Methods: We retrospectively investigated the prenatal genetic screening and karyotype analysis results of pregnant women who had undergone invasive prenatal testing in Prenatal Diagnosis Department of Meizhou People’s Hospital during Jan. 1, 2015 to Dec. 31, 2019. We analyzed the frequencies of chromosome abnormalities in women with high-risk indications.Results: A total of 2,193 pregnant women who had underwent invasive prenatal testing were included in our analysis. Chromosomal abnormalities occurred in 10.3% of these women, and rate increased with maternal age (P < 0.001). The frequencies of chromosome abnormalities varied for women with different high-risk indications, which was 10.3% (226/2193) for abnormal ultrasound results, 3.3% (31/938) for positive serum screening test results, 61.4% (78/127) for positive NIPT results, 9.3% (13/140) for AMA and 11.1% (10/90) for obstetric/family history. Follow up data showed that 380 pregnant women opted for termination the pregnancy, including 211 (55.5%) due to karyotype abnormalities and 169 (45.5%) due to abnormal ultrasonic outcomes.Conclusion: Our data suggested that the prenatal screening methods have high false positive rates. NIPT is the most accurate non-invasive prenatal screening. Apart from karyotype abnormality, abnormal ultrasound results alone accounted for a big part of pregnancy termination.

scholarly journals Analysis of Prenatal Diagnosis Results and Pregnancy Outcome of Non-invasive Prenatal Screening High-risk Fetuses

2020 ◽  
Author(s):  
Yan Luo ◽  
Yanmei Sun ◽  
Haishen Tian ◽  
Hezhen Lu ◽  
Lishuang Ma ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Pregnant Women ◽  
Clinical Significance ◽  
Prenatal Screening ◽  
Trisomy 13 ◽  
Chromosomal Microarray Analysis ◽  
Non Invasive ◽  
Chromosomal Karyotype

Abstract BackgroundWith the development of whole-genome sequencing, small chromosomal deletions and duplications could be found by NIPT. This study is to evaluate the clinical significance of fetal chromosomal karyotype analysis and chromosomal microarray analysis (CMA) to clarify the clinical significance of 528 cases of high-throughput sequencing noninvasive prenatal screening suggesting high-risk cases. MethodsNon-invasive prenatal screening showed that the fetus 21, 18, 13, sex chromosomes, and other chromosomes are at high risk of aneuploidy and fetal chromosome copy number variations (CNVs) are at high risk, requiring prenatal diagnosis Pregnant women are the research objects. After obtaining informed consent, fetal cells were obtained by amniocentesis or umbilical vein puncture for chromosomal karyotype and CMA analysis. All cases of childbirth were followed up by telephone over a period of 1 year.Results Among 528 fetuses, 447 were at high risk of aneuploidy. The positive predictive value (PPV) for trisomy 21(T21), trisomy 18 (T18), trisomy 13 (T13), sex chromosome aneuploidies (SCAs), and other chromosome aneuploidy was 85.24%, 51.52%, 12.5%, 50.82%, and 5.88% respectively. Another 81 cases of non-invasive prenatal screening suggest CNVs High risk. The PPV for CNVs was 34.57% .Among them, CNVs has a clear pathogenic significance can reach 24.69% . Follow-up of childbirth cases: Of the 62 pregnant women diagnosed with fetal SCA, 13 chose to continue their pregnancy, and the overall continued pregnancy rate was 20.97% (13/62); CNVs has no clear significance/no disease reported in 8 cases, 1 case After being lost to follow-up, all 7 cases chose to continue their pregnancy. One of the children was not informed about the specific situation; one girl had six fingers on both hands, and the rest had no abnormal growth; the remaining five children developed normally. ConclusionThis study has obtained relatively reliable PPV data for NIPT screening for chromosomal aneuploidy, which provides a reliable basis for clinical genetic counseling and treatment; it is recommended to perform prenatal diagnosis and perform chromosomal nucleus when non-invasive and high-risk prompts suspicious chromosomal abnormalities (over/under/microdeletion/microduplication). Type and CMA inspection, so that the inspection is more comprehensive and not easy to miss the diagnosis.

What is the risk of mortality for people who are screen positive in a diabetes screening programme but who do not have diabetes on biochemical testing? Diabetes screening programmes from a public health perspective

2002 ◽  
Vol 9 (4) ◽  
pp. 187-190 ◽  
Author(s):  
A. Spijkerman ◽  
S. Griffin ◽  
J. Dekker ◽  
G. Nijpels ◽  
N.J. Wareham
Keyword(s):  
Public Health ◽  
High Risk ◽  
Mortality Risk ◽  
False Positive ◽  
True Positive ◽  
Negative Group ◽  
Diabetes Screening ◽  
True Negative ◽  
Risk Of Mortality ◽  
Biochemical Testing

OBJECTIVES: To assess mortality risk in people classified by the Cambridge risk score (CRS), a previously validated simple screening tool for undiagnosed type 2 diabetes that uses only information routinely available in primary care. SETTING: Random sample of the general population between 50 and 75 years of age in Hoorn, The Netherlands METHODS: The results of the CRS were compared with the gold standard for diabetes, the oral glucose tolerance test (OGTT) results classified according to the World Health Organisation (WHO) 1999 diagnostic criteria. Cox’s proportional hazards regression was used to assess the risk of mortality of screen positive and screen negative people. RESULTS: 154 people out of the total population of 2297 had previously undiagnosed diabetes and 113 (73%) of these would have been detected with the CRS (true positive). However, the CRS identified a much larger group (n=1037) who were positive for the score, but who did not have diabetes on biochemical testing (false positive). Unadjusted risk of mortality was highest in the true positive group (3.40 95% confidence interval (95% CI, 2.15 to 5.38)), intermediate in false positive people (2.62 (2.00 to 3.43)), and lowest in false negative people (1.50 (0.55 to 4.09)) with the true negative group as reference. Adjustment for age and sex resulted in similar risk estimates for all three groups, but mortality risk was significantly increased only in false positive and true positive groups compared with the true negative group. CONCLUSIONS: People who have a positive risk score are at high risk of mortality whether or not subsequent testing shows them to have diabetes. Direct public health interventions in this high risk population may be appropriate.

The effects and use of negative pressure wound therapy – a set of case reports

2020 ◽  
Vol 99 (4) ◽  
pp. 183-188
Keyword(s):  
Wound Healing ◽  
High Risk ◽  
Negative Pressure ◽  
Negative Pressure Wound Therapy ◽  
Chronic Wounds ◽  
Wide Spectrum ◽  
Case Reports ◽  
Modern Medicine ◽  
Wound Therapy ◽  
Basic Set

Modern medicine offers a wide spectrum of wound healing resources for acute or chronic wounds. Negative pressure wound therapy (NPWT) is a very effective method, allowing complicated defects and wounds to heal. The basic set is usually provided with various special accessories to facilitate the use and support safe application of NPWT to high-risk tissue. Selected case reports are presented herein to document the special use and combinations of materials in negative pressure wound therapy.

Dual and multiple trisomies: analysis of 38 cases from 13 thousand karyotyped embryos and fetuses

2017 ◽  
pp. 109-115
Author(s):  
N.P. Veropotvelyan ◽  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Pregnant Women ◽  
Maternal Age ◽  
Chromosomal Abnormalities ◽  
Chorionic Villus ◽  
Primary Group ◽  
Chorionic Villus Sampling ◽  
Missed Abortion ◽  
Reproductive Losses

The study presents data of different authors, as well as its own data on the frequency of multiple trisomies among the early reproductive losses in the I trimester of pregnancy and live fetuses in pregnant women at high risk of chromosomal abnormalities (CA) in I and II trimesters of gestation. The objective: determining the frequency of occurrence of double (DT) and multiple trisomies (MT) among the early reproductive losses in the I trimester of pregnancy and live fetuses in pregnant women at high risk of occurrence of HA in I and II trimesters of gestation; establishment of the most common combinations of diesel fuel and the timing of their deaths compared with single regular trisomy; comparative assessment materinskogo age with single, double and multiple trisomies. Patients and methods. During the period from 1997 to 2016, the first (primary) group of products in 1808 the concept of missed abortion (ST) of I trimester was formed from women who live in Dnepropetrovsk, Zaporozhye, Kirovograd, Cherkasy, Kherson, Mykolaiv regions. The average term of the ST was 8±3 weeks. The average age of women was 29±2 years. The second group (control) consisted of 1572 sample product concepts received during medical abortion in women (mostly residents of Krivoy Rog) in the period of 5-11 weeks of pregnancy, the average age was 32 years. The third group was made prenatally karyotyped fruits (n = 9689) pregnant women with high risk of HA of the above regions of Ukraine, directed the Centre to invasive prenatal diagnosis for individual indications: maternal age, changes in the fetus by ultrasound (characteristic malformations and echo markers HA) and high risk of HA on the results of the combined prenatal screening I and II trimesters. From 11 th to 14 th week of pregnancy, chorionic villus sampling was performed (n=1329), with the 16th week – platsentotsentez (n=2240), 18 th and 24 th week – amniocentesis (n=6120). Results. A comparative evaluation of maternal age and the prevalence anembriony among multiple trisomies. Analyzed 13,069 karyotyped embryonic and fetal I-II trimester of which have found 40 cases of multiple trisomies – 31 cases in the group in 1808 missed abortion (2.84% of total HA), 3 cases including 1 572 induced medabortov and 7 cases during 9689 prenatal research (0.51% of HA). Determined to share the double trisomies preembrionalny, fetal, early, middle and late periods of fetal development. Conclusion. There were no significant differences either in terms of destruction of single and multiple trisomies or in maternal age or in fractions anembrionalnyh pregnancies in these groups. Key words: multiple trisomies, double trisomy, missed abortion, prenatal diagnosis.

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