ArticleMolecular cytogenetics2019
Prenatal diagnosis of 4953 pregnant women with indications for genetic amniocentesis in Northeast China.
Article in Molecular cytogenetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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6 citing papers in PubMed, 17 citations in OpenAlex.
- Evaluation of chromosomal abnormalities in the postnatal cohort: A single-center study on 14,242 patients.Journal of clinical laboratory analysis · 2024Article
- Perspective on prenatal polychlorinated biphenyl exposure and the development of the progeny nervous system (Review).International journal of molecular medicine · 2021Review
- Clinical application of whole-exome sequencing: A retrospective, single-center study.Experimental and therapeutic medicine · 2021Article
- Clinical application of noninvasive prenatal testing in the detection of fetal chromosomal diseases.Molecular cytogenetics · 2021Article
- Cytogenetic analysis of 3387 umbilical cord blood in pregnant women at high risk for chromosomal abnormalities.Molecular cytogenetics · 2020Article
- Application value of NIPT for uncommon fetal chromosomal abnormalities.Molecular cytogenetics · 2020Article
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Authors and funding
7 authors at 1 institution in 1 country.
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Abstract
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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