Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Objective: To assess the accuracy of quantitative fluorescence PCR(QF-PCR) for the detection of fetal chromosomal aneuploidies and its values for prenatal diagnosis.
Methods: QF-PCR and chromosomal karyotyping were used to analyze 6066 amniotic fluid samples derived from 6034 pregnant women.
Results: Both QF-PCR and karyotyping analysis have detected 135 cases of fetal aneuploidies involving chromosomes 21, 18, 13, X, and Y. The QF-PCR assay was also successful in 67 cases for which amniotic fluid culture has failed. Furthermore, it has identified maternal cell contamination in 7 cases. By determining the consistency of short tandem repeat (STR) sites, the QF-PCR assay has identified 22 dizygotic twins among 32 twins with double chorions and double amniotic sacs. In 12 cases, it has signaled numerical chromosomal aberration by critical or partial abnormal values for the fluorescence peak area ratio, which were verified by karyotyping analysis as mosaicisms of chromosome aneuploidies.
Conclusion: The QF-PCR can provide an useful supplement for chromosomal karyotyping and has an important role in rapid prenatal diagnosis.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2018.02.018 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Diagnosing prenatal alcohol exposure and fetal alcohol syndrome in military-connected children: Insights from US military data claims, 2016-2023.
Alcohol Clin Exp Res (Hoboken)
September 2025
Uniformed Services University of the Health Sciences, Bethesda, Maryland, USA.
Background: Fetal alcohol spectrum disorder (FASD) is a lifelong neurodevelopmental condition resulting from prenatal alcohol exposure (PAE) during gestation. Conservative estimates of FASD prevalence in United States children are 1%-5%. Early identification could facilitate early intervention, yet fewer than 1% of children with FASD receive a diagnosis.
View Article and Find Full Text PDFImpact of chorionic villus sampling volume on time to result and pregnancy management.
J Matern Fetal Neonatal Med
December 2025
Section of Maternal-Fetal Medicine, Department of Obstetrics, Gynecology and Reproductive Sciences, Yale School of Medicine, New Haven, Connecticut, USA.
Objective: To evaluate the association between low-volume chorionic villus sampling (CVS) and delay in patient care.
Methods: This is a retrospective cohort study of patients who underwent CVS from 8/19/2019 to 12/31/2022 in a single center. The exposure was low-volume CVS, defined as less than 15 mg of sample.
Routine cell-free DNA prenatal screening identifies pregnancies at high risk for cystic fibrosis that may benefit from fetal therapy.
J Cyst Fibros
September 2025
Department of Medicine, Division of Pulmonary, Allergy, and Critical Care Medicine, Oregon Health and Science University, Portland, OR, USA.
Recent improvements in cell-free DNA technology have enabled non-invasive prenatal testing (NIPT) to screen for fetal single-gene autosomal recessive conditions from maternal blood as early as the first trimester. This technique can determine the fetal risk for cystic fibrosis (CF) with a single blood sample from a pregnant person without the need for a partner sample, which is required for traditional carrier screening. A retrospective review of 100,106 consecutive general-risk pregnant patients who underwent CF carrier screening was completed.
View Article and Find Full Text PDFAssessing the burden of congenital toxoplasmosis in Burundi, 2020.
Acta Trop
September 2025
Department of Public Health, Institute of Tropical Medicine, Nationalestraat 155, 2000 Antwerp, Belgium.
Congenital toxoplasmosis (CT) due to Toxoplasma gondii, an apicomplexan parasite, leads to significant sequelae in children, foetal losses and neonatal deaths worldwide. This study aimed to assess the burden of CT in Burundi for the year 2020. We used epidemiological and economic data collected in major hospitals in Burundi, the Ministry of Public Health in Burundi and international peer-reviewed literature to estimate the disability-adjusted life years (DALYs) and economic costs spent on prenatal consultations, diagnosis and treatment of toxoplasmosis for pregnant women.
View Article and Find Full Text PDFThe deficiency of DIP2C leads to congenital heart defects in patients with 10p15.3 microdeletion syndrome.
Gene
September 2025
Department of Cardiac Surgery, Guangdong Cardiovascular Institute, Guangdong Provincial People's Hospital(Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou, China; Department of Neck and Thoracic Surgery, Yingde People's Hospital, Yingde, Guangdong, China. Electronic add
Background: Recurrent 10p15.3 microdeletion syndrome is a rare multisystem disorder characterized by abnormal facial features, global developmental delay (DD)/intellectual disability (ID), short stature, hand/foot malformation, and congenital heart defects (CHDs). However, the specific genetic defects that contribute to the cardiac phenotype remain unclear.
View Article and Find Full Text PDF