Large scale follow-up research study: SneakPeek® Early Gender DNA Test 99.9% accurate for fetal sex by live-birth confirmation

2020 ◽  
Vol 6 (6) ◽  
pp. 165-168
Author(s):  
Haley Milot ◽  
Alexa de Jerez ◽  
Chris Jacob
Keyword(s):  
Pregnant Women ◽  
Live Birth ◽  
Large Scale ◽  
Prenatal Testing ◽  
Fetal Sex ◽  
Dna Test ◽  
Non Invasive ◽  
Test Study ◽  
Study Participants

Early fetal sex determination has become more prevalent among parents interested in planning for their unborn child. Current advances in non-invasive prenatal testing (NIPT) have facilitated this desire with safe and efficient methods such as the SneakPeek® Early Gender DNA Test (“SneakPeek”). Here, we report the accuracy of SneakPeek® from a large-scale clinical study of 1,029 pregnant women between 7 and 37 weeks of gestation (median =10 weeks). A follow-up survey was conducted on all study participants to determine whether the birth sex of their child matched the fetal sex test result reported by SneakPeek®. Venipuncture blood samples were collected from pregnant women in October through December of 2019, and subsequently analyzed with SneakPeek® to determine fetal sex. After birth, a survey was conducted to obtain live birth information for all participants in the study. Y-chromosome DNA was detected in 505 of the 506 samples from mothers that gave birth to baby boys, providing 99.8% sensitivity. Gender of all 523 newborn girls was identified correctly, resulting in 100% specificity. There were no cases of male DNA contamination identified in this study (i.e. no false positives). In the largest qPCR-based fetal sex test study to date, SneakPeek® test results were confirmed using the gold standard of the baby’s sex at birth. With 99.9% accuracy, SneakPeek® is the most reliable early fetal sex text available for expectant parents

PP350 Study On The Awareness, Willingness To Pay And Satisfaction With Non-Invasive Prenatal Testing Among Pregnant Women

2020 ◽  
Vol 36 (S1) ◽  
pp. 30-30
Author(s):  
Changjia Fan ◽  
Wenru Shang ◽  
Jiayan Huang ◽  
Yang Wan
Keyword(s):  
Willingness To Pay ◽  
Pregnant Women ◽  
Birth Defects ◽  
Financial Burden ◽  
Down's Syndrome ◽  
Prenatal Testing ◽  
Down’S Syndrome ◽  
Anhui Province ◽  
Screening Methods ◽  
Non Invasive

IntroductionBirth defects seriously affect children's survival and quality of life and bring great suffering and financial burden to children and their families. Down's syndrome is one of the most common birth defects. Compared with traditional serological screening methods, non-invasive prenatal testing (NIPT) has higher sensitivity and specificity in the screening of Down's syndrome. In April 2017, the People's Government of Fuyang City, Anhui Province launched a NIPT free screening program. From the perspective of the beneficiary, this research investigated the awareness, willingness to pay and satisfaction of pregnant women in Fuyang City, Anhui Province, to better improve the use of NIPT.MethodsA questionnaire survey was conducted on 1,221 pregnant women who experienced this program in Fuyang City, Anhui Province. Multivariate ordered logistic regression models were established to analyze the factors affecting the satisfaction of NIPT.ResultsA total of 1,217 valid questionnaires were collected. Research indicated 82.5 percent knew about NIPT and 81.9 percent were willing to pay personally when its price was CNY 800 (USD 113.88) per test among pregnant women. The satisfaction of pregnant women with NIPT showed that the waiting time for test results was relatively low (4.5 out of 5 points) compared with other aspects of satisfaction. The higher the education level of the pregnant women, the lower their satisfaction with NIPT.ConclusionsIt is necessary to pay attention to the characteristics of education and to improve the awareness and satisfaction of NIPT among pregnant women. Meanwhile, if it is affordable enough for NIPT services to be provided by the government, this mode should be promoted. In conjunction with the willingness to pay of pregnant women, NIPT payment methods should be developed appropriately.

scholarly journals Follow-up in Patients With Non-invasive Prenatal Screening Failures: A Reflection on the Choice of Further Prenatal Diagnosis

2021 ◽  
Vol 12 ◽  
Author(s):  
Sha Liu ◽  
Hongqian Liu ◽  
Jianlong Liu ◽  
Ting Bai ◽  
Xiaosha Jing ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
Detection Methods ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Non Invasive

BackgroundOur aim was to provide a theoretical basis for clinicians to conduct genetic counseling and choose further prenatal diagnosis methods for pregnant women who failed non-invasive prenatal screening (NIPS).MethodsA retrospective analysis was performed on pregnant women who had failed NIPS tests.ResultsAmong the 123,291 samples, 394 pregnant women did not obtain valid results due to test failures. A total of 378 pregnant women were available for follow-up, while 16 patients were lost to follow-up. Of these 378, 135 pregnant women chose further prenatal diagnosis through amniocentesis, and one case of dysplasia was recalled for postpartum chromosome testing. The incidence rate of congenital chromosomal abnormalities in those who failed the NIPS was 3.97% (15/378), which was higher than that of the chromosomal abnormalities in the common population (1.8%). Among the pregnant women who received prenatal diagnosis, the positive rates of chromosomal abnormalities in the chromosomal microarray analysis/copy number variation sequencing (CMA/CNV-seq) group and in the karyotyping group were 15.28 and 4.76%, respectively.ConclusionPrenatal diagnosis should be strongly recommended in posttest genetic counseling for pregnant women with NIPS failures. Further, high-resolution detection methods should be recommended for additional prenatal diagnoses.

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 Lower detectability of non-invasive prenatal testing compared to prenatal diagnosis in high-risk pregnant women

2019 ◽  
Vol 7 (14) ◽  
pp. 319-319 ◽  
Author(s):  
Jing Wang ◽  
Zhi-Wei Wang ◽  
Qin Zhou ◽  
Bin Zhang ◽  
Ting Yin ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Pregnant Women ◽  
Prenatal Testing ◽  
Non Invasive

scholarly journals The Clinical Utility of Non-invasive Prenatal Testing for Pregnant Women With Different Diagnostic Indications

2020 ◽  
Vol 11 ◽  
Author(s):  
Jianli Zheng ◽  
Haiyan Lu ◽  
Min Li ◽  
Yongjuan Guan ◽  
Fangfang Yang ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Clinical Utility ◽  
Prenatal Testing ◽  
Non Invasive

scholarly journals Genetic profiling of Vietnamese population from large-scale genomic analysis of non-invasive prenatal testing data

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Ngoc Hieu Tran ◽  
Thanh Binh Vo ◽  
Van Thong Nguyen ◽  
Nhat-Thang Tran ◽  
Thu-Huong Nhat Trinh ◽  
...  
Keyword(s):  
Allele Frequency ◽  
Frequency Distribution ◽  
Genetic Variants ◽  
Large Scale ◽  
Genomic Analysis ◽  
Prenatal Testing ◽  
Allele Frequency Distribution ◽  
Genetic Studies ◽  
Non Invasive ◽  
Vietnamese Population

Abstract The under-representation of several ethnic groups in existing genetic databases and studies have undermined our understanding of the genetic variations and associated traits or diseases in many populations. Cost and technology limitations remain the challenges in performing large-scale genome sequencing projects in many developing countries, including Vietnam. As one of the most rapidly adopted genetic tests, non-invasive prenatal testing (NIPT) data offers an alternative untapped resource for genetic studies. Here we performed a large-scale genomic analysis of 2683 pregnant Vietnamese women using their NIPT data and identified a comprehensive set of 8,054,515 single-nucleotide polymorphisms, among which 8.2% were new to the Vietnamese population. Our study also revealed 24,487 disease-associated genetic variants and their allele frequency distribution, especially 5 pathogenic variants for prevalent genetic disorders in Vietnam. We also observed major discrepancies in the allele frequency distribution of disease-associated genetic variants between the Vietnamese and other populations, thus highlighting a need for genome-wide association studies dedicated to the Vietnamese population. The resulted database of Vietnamese genetic variants, their allele frequency distribution, and their associated diseases presents a valuable resource for future genetic studies.

scholarly journals Serum magnesium at 18-20 weeks of gestation: can it be a predictor of gestational hypertension and fetomaternal outcome?

2020 ◽  
Vol 9 (4) ◽  
pp. 1402
Author(s):  
Sasikala Kathiresan ◽  
Agalya Angelina Sanjevrajah ◽  
Jeyashree Kathiresan
Keyword(s):  
Pregnant Women ◽  
Gestational Hypertension ◽  
Serum Magnesium ◽  
Colorimetric Method ◽  
Fetal Outcome ◽  
Mean Value ◽  
Term Birth ◽  
Study Results ◽  
Study Participants

Background: Hypertensive disorders of pregnancy (HDP) is a major cause of maternal, fetal morbidity and mortality complicating 10% of all gestations. As effective treatments are very limited, prediction of HDP occurrence is most importance. Though many biomarkers have shown relationship with HDP, serum magnesium (Mg) has shown better predictor as involved in maintaining vascular contractility, tone. This study is intended to analyse incidence of GHT and fetomaternal outcome in pregnant women with normal and low serum magnesium level measured at mid trimester (18-20 weeks).Methods: A total of 105 consecutive singleton pregnant women in between 18-20 weeks of gestation attending OBG outpatient department were enrolled. After obtaining the informed consent, structured proforma was used to collect demographic, clinical details. Serum magnesium was measured by the colorimetric method and study participants were divided into two groups based on Mg cut off 1.5 mg/dl and followed up throughout pregnancy for fetomaternal outcome.Results: This study results revealed that 35.2% (37/105) pregnant women had serum Mg level < 1.5 mg/dl and mean value of Mg of all participant is 1.7 mg/dl, just above the lower limit. During follow-up of these two groups, statistically significant correlation between serum Mg levels (< 1.5 mg/dl) with GHT (8/12) occurrence and pre term birth was found. Other fetomaternal outcome not had significant correlation.Conclusions: As per the findings, serum Mg concentration measurement in between 18-20 weeks can be considered as a one of the predictors for subsequent occurrence of maternal outcome of GHT and fetal outcome of pre-term birth.

Non-invasive prenatal testing for fetal sex determination: is ultrasound still relevant?

2013 ◽  
Vol 171 (2) ◽  
pp. 197-204 ◽  
Author(s):  
Claire Colmant ◽  
Michèle Morin-Surroca ◽  
Florent Fuchs ◽  
Hervé Fernandez ◽  
Marie-Victoire Senat
Keyword(s):  
Sex Determination ◽  
Prenatal Testing ◽  
Fetal Sex ◽  
Non Invasive

scholarly journals An Optimized Method for Accurate Fetal Sex Prediction and Sex Chromosome Aneuploidy Detection in Non-Invasive Prenatal Testing

PLoS ONE ◽  
2016 ◽  
Vol 11 (7) ◽  
pp. e0159648 ◽  
Author(s):  
Ting Wang ◽  
Quanze He ◽  
Haibo Li ◽  
Jie Ding ◽  
Ping Wen ◽  
...  
Keyword(s):  
Sex Chromosome ◽  
Prenatal Testing ◽  
Fetal Sex ◽  
Sex Chromosome Aneuploidy ◽  
Non Invasive ◽  
Chromosome Aneuploidy

scholarly journals Non-invasive prenatal testing as a valuable source of population specific allelic frequencies

2018 ◽  
Author(s):  
J Budis ◽  
J Gazdarica ◽  
J Radvanszky ◽  
M Harsanyova ◽  
I Gazdaricova ◽  
...  
Keyword(s):  
Large Scale ◽  
High Reliability ◽  
Low Cost ◽  
Variant Calling ◽  
Prenatal Testing ◽  
Data Set ◽  
Gold Standard Method ◽  
Non Invasive ◽  
Scale Population ◽  
Low Coverage

AbstractLow-coverage massively parallel genome sequencing for non-invasive prenatal testing (NIPT) of common aneuploidies is one of the most rapidly adopted and relatively low-cost DNA tests. Since aggregation of reads from a large number of samples allows overcoming the problems of extremely low coverage of individual samples, we describe the possible re-use of the data generated during NIPT testing for genome scale population specific frequency determination of small DNA variants, requiring no additional costs except of those for the NIPT test itself. We applied our method to a data set comprising of 1,548 original NIPT test results and evaluated the findings on different levels, from in silico population frequency comparisons up to wet lab validation analyses using a gold-standard method. The revealed high reliability of variant calling and allelic frequency determinations suggest that these NIPT data could serve as valuable alternatives to large scale population studies even for smaller countries around the world.

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