New estimates of down syndrome risks at chorionic villus sampling, amniocentesis, and livebirth in women of advanced maternal age from a uniquely defined population

1995 ◽  
Vol 15 (5) ◽  
pp. 455-465 ◽  
Author(s):  
Jane L. Halliday ◽  
Lyndsey F. Watson ◽  
Judith Lumley ◽  
David M. Danks ◽  
Leslie J. Sheffield
Keyword(s):  
Down Syndrome ◽  
Maternal Age ◽  
Chorionic Villus ◽  
Advanced Maternal Age ◽  
Chorionic Villus Sampling

Effect of chorionic villus sampling on utilization of prenatal diagnosis in women of advanced maternal age

2008 ◽  
Vol 41 (5) ◽  
pp. 239-242 ◽  
Author(s):  
Helen Brandenburg ◽  
Coon G. Gho ◽  
Milena G. J. Jahoda ◽  
Theo Stijnen ◽  
Hans Bakker ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Maternal Age ◽  
Chorionic Villus ◽  
Advanced Maternal Age ◽  
Chorionic Villus Sampling

Effect of Chorionic Villus Sampling on Utilization of Prenatal Diagnosis in Women of Advanced Maternal Age

1992 ◽  
Vol 47 (11) ◽  
pp. 763
Author(s):  
HELEN BRANDENBURG ◽  
COEN G. GHO ◽  
MILENA G. J. JAHODA ◽  
THEO STIJNEN ◽  
HANS BAKKER ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Maternal Age ◽  
Chorionic Villus ◽  
Advanced Maternal Age ◽  
Chorionic Villus Sampling

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.

scholarly journals Amniocentesis increases level of anxiety in women with invasive prenatal diagnosis of Down syndrome

2015 ◽  
Vol 34 (2) ◽  
pp. 112 ◽  
Author(s):  
Yanuarita Tursinawati ◽  
Serene Thain ◽  
Christina Choi ◽  
George Heong Yeo Seow
Keyword(s):  
Down Syndrome ◽  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Gestational Age ◽  
Perceived Risk ◽  
Linear Regression Analysis ◽  
Chorionic Villus ◽  
Chorionic Villus Sampling ◽  
Psychological Responses ◽  
Depression Anxiety Stress Scale

Backgound <br />Invasive prenatal diagnosis (PND) through amniocentesis and chorionic villus sampling (CVS) can detect Down syndrome. Pregnant women usually experience a variety of psychological responses associated with invasive PND. This study is intended to assess depression, anxiety and stress levels and the factors related to their psychological responses in pregnant women with invasive prenatal diagnosis of Down syndrome.<br /><br />Methods <br />A cross sectional study was conducted at Kandang Kerbau Women’s and Children’s Hospital, Singapore. The psychological responses of 70 women undergoing PND were assessed by Depression Anxiety Stress Scale 21 (DASS 21) questionnaire. A multiple linear regression analysis was used to analyze association between knowledge and perceived risk with psychological responses (CI 95% and significance value p&lt;0.05).<br /><br />Results <br />More than half of the participants had normal anxiety (55.7%), stress (72.8%), depression levels (65.8%). The results revealed significantly higher level of anxiety in women with gestational age &gt;13 weeks who had pursued amniocentesis. Women with no previous children had higher levels of depression and stress. Women who pursued amniocentesis had significantly higher anxiety scores compared to women undergoing CVS (p=0.015).<br /><br />Conclusions <br />Women’s psychological responses are associated with gestational age, type of procedure and parity. The level of anxiety increased in women who underwent amniocentesis for diagnosis of Down syndrome. Knowledge and perceived risk of having a baby with Down syndrome do not seem to have psychological effects to women.

scholarly journals Trisomy 21 in both fetuses in a DCDA twin pregnancy

2019 ◽  
Vol 12 (4) ◽  
pp. e227608
Author(s):  
Jiawen Ong ◽  
Arundhati Gosavi ◽  
Arijit Biswas ◽  
Mahesh Choolani
Keyword(s):  
Down Syndrome ◽  
Trisomy 21 ◽  
Twin Pregnancy ◽  
Prenatal Screening ◽  
Chorionic Villus ◽  
Screening Tests ◽  
In Vitro Fertilisation ◽  
Chorionic Villus Sampling ◽  
Detection Rates

A woman’s chances of having a child with Down syndrome increases with age. By age 40, the risk of conceiving a child with Down syndrome is about 1 in 100. We report a rare case of dizygotic dichorionic diamniotic twin pregnancy conceived via in vitro fertilisation, with both twins having trisomy 21. Both fetuses were independently detected to be at high risk of autosomal trisomy, initially via first-trimester screening and subsequently via invasive definitive diagnostic tests (ie, chorionic villus sampling and amniocentesis).Diagnosis of trisomy 21 has to be made via initial non-invasive prenatal screening, followed by further rigorous and accurate invasive pregnancy testing for confirmation. The gravity of the results necessitates high detection rates and high specificity of prenatal screening tests. Management of the patient must be multidisciplinary and supportive in nature, involving extensive and non-directive pregnancy counselling and management, genetic counselling and management of psychological distress.

Uptake of Noninvasive Prenatal Testing in Chinese Women following Positive Down Syndrome Screening

2014 ◽  
Vol 37 (2) ◽  
pp. 141-147 ◽  
Author(s):  
C.F. Poon ◽  
W.C. Tse ◽  
K.O. Kou ◽  
K.Y. Leung
Keyword(s):  
Down Syndrome ◽  
Chinese Women ◽  
Multivariable Analysis ◽  
Chorionic Villus ◽  
Prenatal Testing ◽  
First Trimester ◽  
Screening Methods ◽  
Chorionic Villus Sampling ◽  
Noninvasive Prenatal Testing ◽  
Down Syndrome Screening

Objectives: To investigate how the introduction of noninvasive prenatal testing (NIPT) influenced women's testing choices following a positive Down syndrome screening. Methods: A retrospective study was conducted to compare differences in the uptake rates of invasive prenatal diagnosis (IPD) or no testing in one public hospital 1 year before (pre-NIPT) and 1 and 2 years after the introduction of NIPT in private in August 2011 using descriptive analysis and a χ2 test. Conventional screening was funded publicly, but NIPT was not. Multivariable binary logistic regression was used to determine factors affecting choices. Results: In pre-NIPT and in years 1 and 2 after the introduction of NIPT, 306, 362 and 401 women who screened positive were seen, respectively. In year 1 and year 2, 12.6 and 26.7% of them underwent NIPT while IPD was decreased by 16.3 and 25.6%, respectively (p < 0.001). Both chorionic villus sampling and amniocentesis decreased in year 1, but only the former in year 2. However, the rate of declining further testing was similar before and after NIPT (p = 0.213). In multivariable analysis, first trimester screening, nulliparity and working women were significant predictors of accepting NIPT, while only nulliparity was a predictor of declining IPD (OR = 0.61). Conclusions: Introduction of NIPT resulted in a significant decrease in IPD for 2 consecutive years.

448 Cost analysis of down syndrome screening in the advanced maternal age population

2001 ◽  
Vol 185 (6) ◽  
pp. S205
Author(s):  
Janice Hartnett ◽  
Adam Borgida ◽  
Peter Benn ◽  
Michael Barsoom ◽  
Michael Deroche ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Cost Analysis ◽  
Maternal Age ◽  
Advanced Maternal Age ◽  
Down Syndrome Screening

scholarly journals Normal Reference Range of Fetal Nuchal Translucency Thickness Among Pregnant Women of Igbo Extraction in Enugu, South-East Nigeria

2020 ◽  
Author(s):  
Charles Ugwoke Eze ◽  
Sandra Nnenna Okenwa ◽  
Everistus obinna Abonyi ◽  
Julius Amechi Agbo ◽  
Sobechukwu Warric Iwene Onwuzu ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Maternal Age ◽  
Pearson Correlation ◽  
Chorionic Villus ◽  
Nuchal Translucency ◽  
Chorionic Villus Sampling ◽  
Strong Positive Correlation ◽  
Positive Correlation ◽  
Baseline Values ◽  
The Relationship

Abstract Background: Screening of fetus for congenital anomaly has posed a great challenge to obstetricians and other caregivers even as early identification can improve the chances of getting the best possible outcome. Early fetal anomaly screening is usually done using nuchal translucency scan and other invasive procedures such Chorionic villus sampling and amniocentesis. Increase in Nuchal translucency thickness (NTT) above a certain baseline values has been found to predict fetus with anomaly. Baseline values in use are generated from Caucasian population even though these values are known to be population specific. Hence, their use on any given population may lead to errors and introduce potential misdiagnosis. Therefore, there is need for population specific baseline values of NTT.Objectives: The study is aimed at developing baseline values of NTT among apparently normal fetuses from pregnant women of Igbo ethnic group and to assess the relationship of NTT with maternal age and fetal gestational age (FGA).Methods: This cross-sectional study involved 658 pregnant women of Igbo Origin between 11-14 weeks of gestation at Esut Teaching Hospital (Parklane) Enugu from August 2017 to February 2018. Pilot study was done to determine the interobserver variation between sonographers while final NTT was calculated as mean of three separate measurements. The 5th, 50th and 95th percentiles were calculated using polynomial regression while Pearson correlation was used to determine the relationship between NTT, maternal age and FGA. Results: The NTT measurement was shown to be reliable and reproducible. Mean ± S/D NTT obtained was 0.92 ± 0.23 mm. There was a strong positive correlation between NTT measurements and FGA (r = 0.823, p < 0.001); while there was weak but positive correlation between NTT measurements and Maternal age (r = 0.055, p > 0.001). Conclusion: Nuchal translucency thickness measurement increases with increase in FGA while a baseline value of NTT among pregnant women of Igbo extraction has been generated.

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