scholarly journals New cut-off values for screening of trisomy 21, 18 and open neural tube defects (ONTD) during the second trimester in pregnant women with advanced maternal age

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Yiming Chen ◽  
Xue Wang ◽  
Liyao Li ◽  
Sha Lu ◽  
Zhifen Zhang
Keyword(s):  
Pregnant Women ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Trisomy 21 ◽  
Maternal Age ◽  
Advanced Maternal Age ◽  
Serum Markers ◽  
Control Group ◽  
Second Trimester ◽  
Β Hcg

Abstract Background To determine whether advanced maternal age (AMA) causes changes in the maternal serum markers of Trisomy 21, 18 and open neural tube defects (ONTD) during the second trimester of pregnancy. Our research aims to develop new cut-off values for AMA in order to reduce the need for further invasive testing. Methods This retrospective cohort study involved 12,739 pregnant women with AMA and 197,101 pregnant women with non-AMA. We then compared the two groups with respect to the positive rate and positive predictive value (PPV) of Trisomy 21, 18 and ONTD. Pregnant women with Trisomy 21, 18 and ONTD were diagnosed by karyotyping the amniotic fluid and by ultrasound diagnosis. Results Compared to the non-AMA group, the multiple of the median (MOM) of free beta- human chorionic gonadotropin (free β-hCG), alpha-fetoprotein (AFP), and the risk value forTrisomy 21, were significantly higher in the AMA group (all P < 0.001). The positive rates of Trisomy 21, 18, and ONTD in the AMA group were significantly higher than those in the control group (all P < 0.001). In the AMA group, the PPVs for Trisomy 21 and other deformities were significantly higher (all P < 0.001), although the PPVs for Trisomy 18 and ONTD were similar to those of the non-AMA group. The area under the curve (AUC) values for the AMA group were higher than the non-AMA group, based on free β-hCG MoM, AFP MoM, and the risk value of Trisomy 21. The cut-off value for the risk value of Trisomy 21 was 1/172 for the AMA, group and 1/780 for the non-AMA group. Conclusions The positive rates for Trisomy 21, 18 and ONTD, and the PPV for Trisomy 21 and other deformities were significantly higher in the AMA group. It is essential for pregnant women with AMA to be tested using appropriate cut-off values of serum markers screening for Trisomy 21 during the second trimester of pregnancy to improve the efficacy of prenatal screening and reduce the need for further invasive testing.

scholarly journals Efficiency of non-invasive prenatal screening in pregnant women at advanced maternal age

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Hui Zhu ◽  
Xiaoxiao Jin ◽  
Yuqing Xu ◽  
Weihua Zhang ◽  
Xiaodan Liu ◽  
...  
Keyword(s):  
High Risk ◽  
Pregnant Women ◽  
Predictive Value ◽  
Trisomy 21 ◽  
Maternal Age ◽  
Prenatal Screening ◽  
Advanced Maternal Age ◽  
Youden Index ◽  
Non Invasive ◽  
Sensitivity Specificity

Abstract Background Non-invasive prenatal screening (NIPS) is widely used as the alternative choice for pregnant women at high-risk of fetal aneuploidy. However, whether NIPS has a good detective efficiency for pregnant women at advanced maternal age (AMA) has not been fully studied especially in Chinese women. Methods Twenty-nine thousand three hundred forty-three pregnant women at AMA with singleton pregnancy who received NIPS and followed-up were recruited. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV), receiver operating characteristic (ROC) curves and the Youden Index for detecting fetal chromosomal aneuploidies were analyzed. The relationship between maternal age and common fetal chromosomal aneuploidy was observed. Results The sensitivity, specificity, PPV, NPV of NIPS for detecting fetal trisomy 21 were 99.11, 99.96, 90.98, and 100%, respectively. These same parameters for detecting fetal trisomy 18 were 100, 99.94, 67.92, and 100%, respectively. Finally, these parameters for detecting trisomy 13 were 100, 99.96, 27.78, and 100%, respectively. The prevalence of fetal trisomy 21 increased exponentially with maternal age. The high-risk percentage incidence rate of fetal trisomy 21 was significantly higher in the pregnant women at 37 years old or above than that in pregnant women at 35 to 37 years old. (Youden index = 37). Conclusion It is indicated that NIPS is an effective prenatal screening method for pregnant women at AMA.

scholarly journals Accuracy of serum markers, progesterone and vitamins measurements for early screening of abortions in the eastern region of Algeria (Batna)

2018 ◽  
Vol 90 (2) ◽  
Author(s):  
Sara Mouffouk ◽  
Mouloud Yahia ◽  
Chaima Mouffouk ◽  
Hanane Boukrous ◽  
Aicha Saaidia ◽  
...  
Keyword(s):  
Vitamin B12 ◽  
First Trimester ◽  
Serum Markers ◽  
Average Concentration ◽  
Serum Folate ◽  
Control Group ◽  
Eastern Region ◽  
Second Trimester ◽  
Early Screening ◽  
Β Hcg

Spontaneous abortion is an involuntary interruption of pregnancy before 22 weeks of gestation. According to the Algerian National Institute of Public Health the percentage of women suffering from permanent complications during pregnancy is approximately 15%. The aim of this study is the determination of some biochemical analytes, including folic acid, vitamin B12, alphafoetoproteine, beta human chorionic gonadotropin (β-hCG), progesterone and oestradiol (uE3), which are involved in the detection of pregnancy failures. This case-control study was carried out on women in the process of abortion and a control group with viable pregnancies in the East region of Algeria (Batna) during the year 2015. In the present investigation, 69 pregnant women during the first and second trimester were recruited during the first and second trimesters as cases (with miscarriages) and the control group (n=69) was constituted of women who had normal ultrasound. The average concentration of alpha-fetoprotein is significantly low during the first trimester, but it is very high during the second trimester between cases and controls. The median values of β- hCG, uE3 and progesterone decrease very significantly. The mean concentration of serum folate and vitamin B12 did not change significantly between cases and controls in the first and second trimesters. The results of this study revealed that, spontaneous abortions are associated with changes in serum markers and progesterone, which could form an important part in the early diagnosis of non-viable pregnancies. However, vitamins levels have no significant effects on these pregnancies.

DESIGN AN “IN-HOUSE” SOFTWARE FOR CALCULATING THE RISK OF TRISOMY 21, TRISOMY 18 AND OPEN NEURAL TUBE DEFECTS IN THE GESTATIONAL AGED 15 – 22 WEEKS

2011 ◽  
pp. 112-126
Author(s):  
Keyword(s):  
Down Syndrome ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Trisomy 21 ◽  
Parametric Method ◽  
Serum Markers ◽  
Maternal Serum ◽  
Trisomy 18 ◽  
Edwards Syndrome ◽  
Microsoft Office

Objectives: Design an “in-house” software for calculating the risk of fetus has Down syndrome, Edwards syndrome and open neural tube defects in prenatal screening at the gestational aged 15-22. Methods: Based on the Excel program of Microsoft Office and the articles with the Excel of Microsoft Office and related published articles, we design an “in-house” software based on maternal age, gestational age, history of having children with chromosomal aberrations and adjusted maternal serum markers AFP, hCG and uE3. The results were compared with the results of Prisca software by non-parametric method. Results: In cases having the risk of trisomy 21 with the range from 1/251 to 1/350: the risk tends to be lower than Prisca (83.7%). In cases having the high risks of trisomy 21 in screening but the results of prenatal diagnosis are not trisomy: the risks of “in house” software are lower than the risks of Prisca (73%) with 29% of cases has the risks less than 1/250 . In cases of trisomy 18 with the risks are lower than 1/150: there are no statistical significant differences between the two softwares (P<0.05). In screening open neural tube defects, the cases have the threshold higher than 1.50 MoM AFP: The results in the “in house” software tend to higher than Prisca (94%). The cases have the threshold lower than 1.50 MoM AFP: Where the disability screening of neural tube openings with thresholds lower than 1.5 MoM AFP: there are no statistical significant differences between the two softwares (P<0.05). Conclusion: The “in house” software has all the necessary functions for calculating the risk of Down syndrome, Edwards syndrome and open neural tube at the gestational aged 15-22.

scholarly journals Efficiency of Non-invasive Prenatal Screening in Pregnant Women at Advanced Maternal Age

2020 ◽  
Author(s):  
Hui Zhu ◽  
Xiaoxiao Jin ◽  
Yuqing Xu ◽  
Weihua Zhang ◽  
Xiaodan Liu ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Predictive Value ◽  
Trisomy 21 ◽  
Maternal Age ◽  
Prenatal Screening ◽  
Screening Method ◽  
Advanced Maternal Age ◽  
Trisomy 13 ◽  
Sensitivity Specificity ◽  
Fetal Aneuploidies

Abstract Background To evaluate the efficiency of noninvasive prenatal screening (NIPS) in the prenatal screening for fetal aneuploidies in pregnant women at advanced maternal age (AMA). Methods From February 1, 2015, to December 31, 2018, 29,343 pregnant women at AMA underwent NIPS and followed-up were recruited. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) for detecting fetal chromosomal aneuploidies were analyzed. The relationship between maternal age and common fetal chromosomal aneuploidy was observed. Results The sensitivity, specificity, PPV, NPV of NIPS for detecting fetal trisomy 21 were 99.11%, 99.96%, 90.98%, and 100%, respectively. These same parameters for detecting fetal trisomy 18 were 100%, 99.94%, 67.92%, and 100%, respectively. Finally, these parameters for detecting trisomy 13 were 100%, 99.96%, 27.78%, and 100%, respectively. The prevalence of fetal trisomy 21 increased with maternal age. There were significant differences in the prevalence of fetal trisomy 21 among the groups I (35-37-year-old), II (38-40-year-old) and III (41-year-old and older) (P < 0.05). Conclusion It is indicated that NIPS is an effective prenatal screening method in pregnant women at AMA.

scholarly journals Efficiency of Non-invasive Prenatal Screening in Pregnant Women at Advanced Maternal Age

2021 ◽  
Author(s):  
Hui Zhu ◽  
Xiaoxiao Jin ◽  
Yuqing Xu ◽  
Weihua Zhang ◽  
Xiaodan Liu ◽  
...  
Keyword(s):  
High Risk ◽  
Pregnant Women ◽  
Predictive Value ◽  
Trisomy 21 ◽  
Maternal Age ◽  
Prenatal Screening ◽  
Advanced Maternal Age ◽  
Youden Index ◽  
Non Invasive ◽  
Sensitivity Specificity

Abstract Background: Non-invasive prenatal screening (NIPS) is widely used as the alternative choice for pregnant women at high-risk of fetal aneuploidy. However, whether NIPS has a good detective efficiency for pregnant women at advanced maternal age (AMA) has not been fully studied especially in Chinese women. Methods: 29,343 pregnant women at AMA with singleton pregnancy who received NIPS and followed-up were recruited. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV), receiver operating characteristic (ROC) curves and the Youden Index for detecting fetal chromosomal aneuploidies were analyzed. The relationship between maternal age and common fetal chromosomal aneuploidy was observed. Results: The sensitivity, specificity, PPV, NPV of NIPS for detecting fetal trisomy 21 were 99.11%, 99.96%, 90.98%, and 100%, respectively. These same parameters for detecting fetal trisomy 18 were 100%, 99.94%, 67.92%, and 100%, respectively. Finally, these parameters for detecting trisomy 13 were 100%, 99.96%, 27.78%, and 100%, respectively. The prevalence of fetal trisomy 21 increased exponentially with maternal age. The high-risk percentage incidence rate of fetal trisomy 21 was significantly higher in the pregnant women at 37 years old or above than that in pregnant women at 35 to 37 years old. (Youden index=37). Conclusion: It is indicated that NIPS is an effective prenatal screening method for pregnant women at AMA.

scholarly journals Efficiency of Non-invasive Prenatal Screening in Pregnant Women at Advanced Maternal Age

2020 ◽  
Author(s):  
Hui Zhu ◽  
Xiaoxiao Jin ◽  
Yuqing Xu ◽  
Weihua Zhang ◽  
Xiaodan Liu ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Predictive Value ◽  
Trisomy 21 ◽  
Maternal Age ◽  
Prenatal Screening ◽  
Screening Method ◽  
Advanced Maternal Age ◽  
Trisomy 13 ◽  
Noninvasive Prenatal Screening ◽  
Fetal Aneuploidies

Abstract Background: To evaluate the efficiency of noninvasive prenatal screening (NIPS) in the prenatal screening for fetal aneuploidies in pregnant women at advanced maternal age (AMA). Results: From February 1, 2015, to December 31, 2018, 29,443 pregnant women at AMA underwent NIPS and followed-up were recruited. Their detailed clinical data and follow-up outcomes were collected and analyzed. The sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV) of NIPS for detecting fetal trisomy 21 were 99.11%, 99.96%, 90.98%, and 100%, respectively. These same parameters for detecting fetal trisomy 18 were 100%, 99.94%, 67.92%, and 100%, respectively. Finally, these parameters for detecting trisomy 13 were 100%, 99.96%, 27.78%, and 100%, respectively. The prevalence of fetal trisomy 21 increased with maternal age. There were significant differences in the prevalence of fetal trisomy 21 among the groups I (35-37-year-old), II (38-40-year-old) and III (41-year-old and older) ( P <0.05). Conclusion: It is indicated that NIPS is an effective prenatal screening method in pregnant women at AMA. Keywords: Advanced maternal age, Trisomy, Noninvasive prenatal screening, Fetal aneuploidies , Prenatal screening method

scholarly journals Influence of Second-Trimester Ultrasound Markers for Down Syndrome in Pregnant Women of Advanced Maternal Age

2014 ◽  
Vol 2014 ◽  
pp. 1-6 ◽  
Author(s):  
Mariza Rumi Kataguiri ◽  
Edward Araujo Júnior ◽  
Luiz Claudio Silva Bussamra ◽  
Luciano Marcondes Machado Nardozza ◽  
Antonio Fernandes Moron
Keyword(s):  
Down Syndrome ◽  
Pregnant Women ◽  
Maternal Age ◽  
Advanced Maternal Age ◽  
Nonparametric Tests ◽  
Fetal Malformation ◽  
Second Trimester ◽  
Chi Square ◽  
Exact Test ◽  
Chi Square Test

The objective of the present study was to evaluate the influence of second-trimester ultrasound markers on the incidence of Down syndrome among pregnant women of advanced maternal age. This was a retrospective cohort study on 889 singleton pregnancies between the 14th and 30th weeks, with maternal age ≥ 35 years, which would undergo genetic amniocentesis. The second-trimester ultrasound assessed the following markers: increased nuchal fold thickness, cardiac hyperechogenic focus, mild ventriculomegaly, choroid plexus cysts, uni- or bilateral renal pyelectasis, intestinal hyperechogenicity, single umbilical artery, short femur and humerus length, hand/foot alterations, structural fetal malformation, and congenital heart disease. To investigate differences between the groups with and without markers, nonparametric tests consisting of the chi-square test or Fisher’s exact test were used. Moreover, odds ratios with their respective 95% confidence intervals were calculated. Out of the 889 pregnant women, 131 (17.3%) presented markers and 758 (82.7%) did not present markers on the second-trimester ultrasound. Increased nuchal fold (P<0.001) and structural malformation (P<0.001) were the markers most associated with Down syndrome. The presence of one marker increased the relative risk 10.5-fold, while the presence of two or more markers increased the risk 13.5-fold. The presence of markers on the second-trimester ultrasound, especially thickened nuchal fold and structural malformation, increased the risk of Down syndrome among pregnant women with advanced maternal age.

PRENATAL DIAGNOSIS FOR TRISOMY 21, 18 AND 13 BY QUANTITATIVE FLUORESCENT POLYMERASE CHAIN REACTION AMONG PREGNANT WOMEN WITH HIGH RISK

2018 ◽  
Vol 8 (4) ◽  
pp. 88-95
Author(s):  
Thi Ha Thi Minh ◽  
Nghia Le Trung ◽  
Nhan Nguyen Viet ◽  
Duc Vo Van ◽  
Uyen Le Thanh Nha ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Pregnant Women ◽  
Trisomy 21 ◽  
Maternal Age ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Trisomy 18 ◽  
Trisomy 13 ◽  
Β Hcg

Introduction: Prenatal diagnosis of trisomy 21, 18 and 13 plays a very important role in the improving population quality. This study was aimed at (1) Identifying the prevalence of trisomy 21, 18 and 13 by QFPCR from amniotic cells of high-risk pregnancies; and (2) Evaluating the association between diagnosed trisomies and some characteristics of mother and fetus. Objectives and methods: 170 pregnant women with high risk of having trisomy 21, 18 or 13 fetuses during first trimester screening (gestation age from 11 weeks to 13 weeks 6 days). DNA was extracted from amniocytes for prenatal diagnosis using QF-PCR. Results: The prevalence of trisomies was 9.4%, among which trisomy 21 and trisomy 18 accounted for 68.8% and 31.2%, respectively; none of them was trisomy 13. There was the significant association between diagnosed trisomies and maternal age (cut-off 30.5 years old) and nuchal translucency thickness (cut-off 1.95 mm). MoM median of free β-hCG increased in trisomy 21 group (4.35, p = 0.021) and decreased in trisomy 18 group (0.13, p < 0.001) as compared to the non-trisomy group (2.28). MoM median of serum PAPP-A decreased in trisomy 18 group (0.14, p = 0.004) as compared to the non-trisomy group (0.54). Conclusion: Prenatal diagnosis by QF-PCR detected remarkable prevalence of fetuses with trisomy 21 và 18. There was the significant association between diagnosed trisomies and maternal age, nuchal translucency thickness, free β-hCG and serum PAPP-A. Key words: prenatal diagnosis, trisomy, QF-PCR

Analysis of Triple Test Results in 27 Cases of Twin Pregnancies

1998 ◽  
Vol 47 (3-4) ◽  
pp. 249-254 ◽  
Author(s):  
M. Perenc ◽  
L. Dudarewicz ◽  
B. Kałużewski
Keyword(s):  
Pregnant Women ◽  
Enzyme Immunoassay ◽  
Trisomy 21 ◽  
Twin Pregnancy ◽  
Clinical Diagnostics ◽  
Control Group ◽  
Singleton Pregnancy ◽  
Microparticle Enzyme Immunoassay ◽  
Β Hcg ◽  
Twin Pregnancies

AbstractThe study comprises 889 pregnant women between 14 and 21 weeks of gestation. The control group consisted of 862 pregant women with unburdened obstetric anamnesis with an uneventful singleton pregnancy. The examined group consisted of 27 pregnant women with uncomplicated twin pregnancy. In the sera of pregant women AFP (Microparticle Enzyme Immunoassay AxSYM Abbott), total (β-hCG (Microparticle Enzyme Immunoassay AxSYM Abbott) and unconjugated estriol (Radioimmunoassay Amerlex-M. 2T Johnson & Johnson Ortho Clinical Diagnostics Ltd.) were determined. The risk of fetal trisomy 21 was calculated with the use of PRISCA 3.0 software, which corrected the MoM values for twin pregnancy. Ulm Index was also calculated. In the majority of twin pregnancies increased concentrations of AFP, total (β-hCG and uE3 in the range over 1,0 MoM was noted. In the group of women below 35 years of age with singleton pregnancies using PRISCA 3.0 software it approximated to 95%. For women older than 35 optimum index for fetal trisomy 21 risk calculation was Ulm Index with the specificity 93,8%. The specificity of AFP determination in the detection of fetal open NTD in singleton pregnancy was 99%. In the group of women with twin pregnancy the obtained specificity of 77,8% for PRISCA 3.0 software is low, a more adavantageous way to calculate the risk of fetal trisomy 21 is Ulm Index with the specificity of 85,2%. The specificity of AFP determination as a screening for fetal open NTD in twin pregnancy was 96,3%.

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