Efficacy of copy-number variation sequencing technology in prenatal diagnosis
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Xiaoxi Zhao
und
Lin Fu
Abstract
Background
Classical karyotyping and copy-number variation sequencing (CNV-seq) are useful methods for the prenatal detection of chromosomal abnormalities. Here, we examined the potential of using a combination of the two methods for improved and accurate diagnosis.
Methods
From February 2013 to January 2018, 64 pregnant women showing indications for fetal chromosomal examination in the affiliated hospital of the Inner Mongolia Medical University were selected for this study. Amniotic fluid was collected and used for karyotype analysis and CNV-seq.
Results
Karyotype analysis of the 64 cases showed that six cases (9.38%) had chromosomal abnormalities. Using CNV-seq, in addition to three cases with numerical abnormalities of chromosomes, 14 cases were detected with CNV, of which five were pathogenic CNV, four were of uncertain clinical significance and five were polymorphic CNV. However, CNV-seq failed to detect one case with sex chromosome mosaicism and a balanced translocation carrier. The rate of abnormal chromosome and CNV detection was 26.56% (17/64) by CNV-seq.
Conclusion
Application of CNV-seq in prenatal diagnosis could allow the detection of submicroscopic chromosomal abnormalities and effectively reduce the birth of children with microdeletion and microduplication syndrome. Additionally, the combined application of karyotype analysis and CNV-seq can effectively improve the detection rate of chromosome abnormalities.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: This work was supported by the Natural Science Foundation of China (81660542) and the Inner Mongolia Natural Science Fund (2018MS08091).
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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© 2019 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
- Review
- Placenta previa and the risk of intrauterine growth restriction (IUGR): a systematic review and meta-analysis
- Research Articles – Obstetrics
- Total gestational weight gain and the risk of preeclampsia by pre-pregnancy body mass index categories: a population-based cohort study from 2013 to 2017
- Comparison of automated vs. manual measurement to estimate fetal weight in isolated polyhydramnios
- Strain and dyssynchrony in fetuses with congenital heart disease compared to normal controls using speckle tracking echocardiography (STE)
- Maternal abdominal subcutaneous fat thickness as a simple predictor for gestational diabetes mellitus
- Pregnancy outcome following bacteriuria in pregnancy and the significance of nitrites in urinalysis – a retrospective cohort study
- Nearly half of all severe fetal anomalies can be detected by first-trimester screening in experts’ hands
- Effect of maternal obesity on pregnancy outcomes in women delivering singleton babies: a historical cohort study
- Comparison of quantitative fluorescent polymerase chain reaction and karyotype analysis for prenatal screening of chromosomal aneuploidies in 270 amniotic fluid samples
- Effect of Sjögren’s syndrome on maternal and neonatal outcomes of pregnancy
- Intrapartum prediction of birth weight with a simplified algorithmic approach derived from maternal characteristics
- Efficacy of copy-number variation sequencing technology in prenatal diagnosis
- Socio-cultural and clinician determinants in the maternal decision-making process in the choice for trial of labor vs. elective repeated cesarean section: a questionnaire comparison between Italian settings
- Research Articles – Newborn
- Tidal volume monitoring during initial resuscitation of extremely prematurely born infants
- The level of extracellular superoxide dismutase in the first week of life in very and extremely low birth weight infants and the risk of developing bronchopulmonary dysplasia
- Effect of gender on growth-restricted fetuses born preterm
- Letters to the Editor
- Dermal bilirubin kinetics during phototherapy in term neonates
- Transcutaneous bilirubin to guide phototherapy: authors’ reply
Artikel in diesem Heft
- Frontmatter
- Review
- Placenta previa and the risk of intrauterine growth restriction (IUGR): a systematic review and meta-analysis
- Research Articles – Obstetrics
- Total gestational weight gain and the risk of preeclampsia by pre-pregnancy body mass index categories: a population-based cohort study from 2013 to 2017
- Comparison of automated vs. manual measurement to estimate fetal weight in isolated polyhydramnios
- Strain and dyssynchrony in fetuses with congenital heart disease compared to normal controls using speckle tracking echocardiography (STE)
- Maternal abdominal subcutaneous fat thickness as a simple predictor for gestational diabetes mellitus
- Pregnancy outcome following bacteriuria in pregnancy and the significance of nitrites in urinalysis – a retrospective cohort study
- Nearly half of all severe fetal anomalies can be detected by first-trimester screening in experts’ hands
- Effect of maternal obesity on pregnancy outcomes in women delivering singleton babies: a historical cohort study
- Comparison of quantitative fluorescent polymerase chain reaction and karyotype analysis for prenatal screening of chromosomal aneuploidies in 270 amniotic fluid samples
- Effect of Sjögren’s syndrome on maternal and neonatal outcomes of pregnancy
- Intrapartum prediction of birth weight with a simplified algorithmic approach derived from maternal characteristics
- Efficacy of copy-number variation sequencing technology in prenatal diagnosis
- Socio-cultural and clinician determinants in the maternal decision-making process in the choice for trial of labor vs. elective repeated cesarean section: a questionnaire comparison between Italian settings
- Research Articles – Newborn
- Tidal volume monitoring during initial resuscitation of extremely prematurely born infants
- The level of extracellular superoxide dismutase in the first week of life in very and extremely low birth weight infants and the risk of developing bronchopulmonary dysplasia
- Effect of gender on growth-restricted fetuses born preterm
- Letters to the Editor
- Dermal bilirubin kinetics during phototherapy in term neonates
- Transcutaneous bilirubin to guide phototherapy: authors’ reply
