The Diagnosis Pattern of Mid-Trimester Fetal Chromosomal Aneuploidy in Xuzhou and the Clinical Applications

Fang, Yuan; Wang, Guangming; Wang, Chuanxia; Feng, Shi Ting; Gu, Maosheng; Xia, Yujuan

doi:10.1007/s12013-015-0594-8

Cited by 4 publications

(2 citation statements)

References 17 publications

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“…The serological screening is the method determining a risk of fetal chromosomal disease. Recent studies have suggested that serological screening is an important marker related to fetal chromosomal aneuploidy, a single abnormal serum marker with ultrasound examination can facilitate screening for fetal chromosome abnormalities in pregnant women [22], and could increased the detection rate of fetal chromosomal aneuploidy through serological screening [23]. High-risk and critical-risk pregnant women subjected to prenatal screening in the first and second trimesters of pregnancy should undergo prenatal diagnosis.…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of 4953 pregnant women with indications for genetic amniocentesis in Northeast China

Dai

Yang

et al. 2019

Mol Cytogenet

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BackgroundSeveral different technologies are used for prenatal screening procedures and genetic diagnostic technologies. We aimed to investigate the rates of chromosomal abnormalities in cases with different abnormal prenatal indications and to determine the relationships between fetal chromosomal abnormalities and indicators of prenatal abnormalities in Northeast China.MethodsWe evaluated 4953 16- to 23-week singleton gestation cases using amniocentesis and a total of 3583 participants received serological screening. Fetal chromosomal analyses were performed for all samples using fluorescence in situ hybridization and karyotyping.ResultsAmong these samples, 204 (4.12%) had fetal chromosomal abnormalities. A total of 3583 participants received serological screening, among whom 102 (2.85%) exhibited positive results. A total of 309 participants had ultrasonography; 42 (13.6%) of these had abnormalities. Among 97 participants who had non-invasive prenatal testing (NIPT), 59 (61%) had positive results. Among 1265 participants with advanced maternal age, 78 (6.2%) had abnormal results.ConclusionThe serological screening and NIPT that were included in the prenatal screening methods all had false positive and false negative rates. Although they are both prenatal screening techniques, maternal serum screening cannot be replaced by NIPT. The pregnancy women should accept NIPT in a qualified prenatal diagnostic center. We recommend that pregnant women at high or critical risk undergoing prenatal screening should confirm the fetal karyotype through amniocentesis. Moreover, if women receive a positive result via NIPT, they should not have a pregnancy termination without undergoing further prenatal diagnosis.

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Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of 4953 pregnant women with indications for genetic amniocentesis in Northeast China

Dai

Yang

et al. 2019

Mol Cytogenet

View full text Add to dashboard Cite

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“…However, the true positive rate for serum screening testing was poor in our data. Recent study found that serum screening combined with ultrasonography could improve the detection rate of fetal chromosomal aneuploidy (20).…”

Section: Discussionmentioning

confidence: 99%

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

Liu

Wang

et al. 2020

Preprint

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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.

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Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women

Badeau

Lindsay

Blais

et al. 2017

Cochrane Database of Systematic Reviews

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These results show that MPSS and TMPS perform similarly in terms of clinical sensitivity and specificity for the detection of fetal T31, T18, T13 and sex chromosome aneuploidy (SCA). However, no study compared the two approaches head-to-head in the same cohort of patients. The accuracy of gNIPT as a prenatal screening test has been mainly evaluated as a second-tier screening test to identify pregnancies at very low risk of fetal aneuploidies (T21, T18 and T13), thus avoiding invasive procedures. Genomics-based non-invasive prenatal testing methods appear to be sensitive and highly specific for detection of fetal trisomies 21, 18 and 13 in high-risk populations. There is paucity of data on the accuracy of gNIPT as a first-tier aneuploidy screening test in a population of unselected pregnant women. With respect to the replacement of invasive tests, the performance of gNIPT observed in this review is not sufficient to replace current invasive diagnostic tests.We conclude that given the current data on the performance of gNIPT, invasive fetal karyotyping is still the required diagnostic approach to confirm the presence of a chromosomal abnormality prior to making irreversible decisions relative to the pregnancy outcome. However, most of the gNIPT studies were prone to bias, especially in terms of the selection of participants.

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The Diagnosis Pattern of Mid-Trimester Fetal Chromosomal Aneuploidy in Xuzhou and the Clinical Applications

Cited by 4 publications

References 17 publications

Prenatal diagnosis of 4953 pregnant women with indications for genetic amniocentesis in Northeast China

Prenatal diagnosis of 4953 pregnant women with indications for genetic amniocentesis in Northeast China

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

Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women

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