scholarly journals Detecting atypical anomalies by non-invasive prenatal screening in advanced maternal age vs. sonographically abnormal pregnancies

2022 ◽  
Vol 226 (1) ◽  
pp. S682
Author(s):  
Emily E. Daggett ◽  
Manesha Putra ◽  
Noria McCarther ◽  
Vanja Dimitrijevic ◽  
Shashirekha Shetty
Keyword(s):  
Maternal Age ◽  
Prenatal Screening ◽  
Advanced Maternal Age ◽  
Non Invasive

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 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

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 Factors affecting cell-free DNA fetal fraction: statistical analysis of 13,661 maternal plasmas for non-invasive prenatal screening

2019 ◽  
Vol 13 (1) ◽  
Author(s):  
Yaping Hou ◽  
Jiexia Yang ◽  
Yiming Qi ◽  
Fangfang Guo ◽  
Haishan Peng ◽  
...  
Keyword(s):  
Gestational Age ◽  
Maternal Age ◽  
Prenatal Screening ◽  
Maternal Plasma ◽  
Clinical Implementation ◽  
Factors Affecting ◽  
Non Invasive ◽  
Cell Free Fetal Dna ◽  
Maternal Bmi ◽  
Fetal Fraction

Abstract Background The identification of cell-free fetal DNA (cffDNA) facilitated non-invasive prenatal screening (NIPS) through analysis of cffDNA in maternal plasma. However, challenges regarding its clinical implementation become apparent. Factors affecting fetal fraction should be clarified to guide its clinical application. Results A total of 13,661 pregnant subjects with singleton pregnancies who undertook NIPS were included in the study. Relationship of gestational age, maternal BMI, and maternal age with the cffDNA fetal fraction in maternal plasmas for NIPS was investigated. Compared with 13 weeks (12.74%) and 14–18 weeks group (12.73%), the fetal fraction in gestational ages of 19–23 weeks, 24–28 weeks, and more than 29 weeks groups significantly increased to 13.11%, 16.14%, and 21.17%, respectively (P < 0.01). Compared with fetal fraction of 14.54% in the maternal BMI group of < 18.5 kg/m2, the percentage of fetal fraction in the group of 18.5–24.9 kg/m2 (13.37%), 25–29.9 kg/m2 (12.20%), 30–34.9 kg/m2 (11.32%), and 35–39.9 kg/m2 (11.57%) decreased significantly (P < 0.01). Compared with the fetal fraction of 14.38% in the group of 18–24 years old, the fetal fraction in the maternal age group of 25–29 years old group (13.98%) (P < 0.05), 30–34 years old group (13.18%) (P < 0.01), 35–39 years old group (12.34%) (P < 0.01), and ≥ 40 years old (11.90%) group (P < 0.01) decreased significantly. Conclusions The percentage of fetal fraction significantly increased with increase of gestational age. Decreased fetal fraction with increasing maternal BMI was found. Maternal age was also negatively related to the fetal fraction.

scholarly journals Predictive value of aberrant right subclavian artery for fetal chromosomal in women of advanced maternal age

2019 ◽  
Author(s):  
Jian-Hong You ◽  
Li-Ping Chen ◽  
Xiao-Hong Zhong ◽  
Jiang-Hua Chen ◽  
Jing-Xian Xie ◽  
...  
Keyword(s):  
Subclavian Artery ◽  
Maternal Age ◽  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
Advanced Maternal Age ◽  
Aberrant Right Subclavian Artery ◽  
High Prevalence ◽  
Ultrasound Findings ◽  
Singleton Pregnancies ◽  
Fetal Karyotype

Abstract Background: In entire population, aberrant right subclavian artery ( ARSA ) was in closely association with chromosomal abnormalities. The risk of fetal chromosomal abnormalities increased with the maternal age exponentially. While, the situation in advanced maternal age ( AMA ) group is uncertain. This study aimed to establish the incidence of ARSA in Chinese AMA and non-AMA women and to determine the frequency of aneuploidy among AMA and non-AMA women with ARSA. Methods: The retrospective study included 13,690 singleton pregnancies which were divided into AMA and non-AMA groups. Integrated obstetric ultrasonic screening, biochemical screening, noninvasive prenatal screening and fetal karyotype analysis were analyzed. Results: 1. The overall incidence of ARSA was 0.69 % with no difference in both groups. 2. The prevalence rate of chromosomal abnormalities in AMA group ( 37 / 2,860 ) was much higher than that in non-AMA group. The risk of chromosomal abnormalities significantly increased with both ARSA detected and additional ultrasound findings. 3. With ARSA detected, the incidence increased to 20.00 % and 10.00 % in AMA and non-AMA cases, respectively. 4. Additionally, a case with chimeric Turner syndrome ( 45X / 46XX ) was found with isolated ARSA in AMA pregnancy. Conclusion: There is a high prevalence of chromosomal abnormalities in AMA fetuses. Both isolated and nonisolated ARSA would increase the risk of chromosomal abnormalities. Moreover, when ARSA is found in AMA ones, it confers a sharp increase in the incidence of chromosomal abnormalities.

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