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Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Single nucleotide polymorphism array (SNP-array) analysis for fetuses with abnormal nasal bone.

Xiaorui Xie1, Linjuan Su1, Ying Li1

  • 1Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Provincial Maternity and Children's Hospital, Affiliated Hospital of Fujian Medical University, No. 18 Daoshan Road, Gulou District, Fuzhou, 350001, China.

Archives of Gynecology and Obstetrics
|July 10, 2023
PubMed
Summary

Single nucleotide polymorphism array (SNP array) testing reveals significant chromosomal abnormalities in fetuses with absent or hypoplastic nasal bones. SNP array enhances detection, particularly in cases with additional markers or advanced maternal age.

Keywords:
Copy number variationsKaryotypingNasal bone absenceNasal bone hypoplasiaSingle nucleotide polymorphism array

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Area of Science:

  • Prenatal Diagnosis
  • Genetics
  • Medical Imaging

Background:

  • Nasal bone assessment is a key component of prenatal screening for fetal aneuploidies.
  • Submicroscopic chromosomal abnormalities may not be detected by conventional karyotyping.

Purpose of the Study:

  • To determine the prevalence of submicroscopic chromosomal abnormalities using single nucleotide polymorphism array (SNP array) in pregnancies with absent or hypoplastic nasal bones.
  • To compare the diagnostic yield of SNP array with conventional karyotyping in this population.

Main Methods:

  • Retrospective analysis of 333 fetuses with absent or hypoplastic nasal bones identified via prenatal ultrasound.
  • Performance of both SNP array and conventional karyotyping on all subjects.
  • Categorization of fetuses into three groups based on isolated nasal bone findings, additional soft markers, or structural defects.

Main Results:

  • Overall, 22.8% of fetuses had chromosomal abnormalities, including trisomy 21, trisomy 18, sex chromosome aneuploidies, and copy number variations (CNVs).
  • Prevalence of abnormalities increased with more severe nasal bone findings and presence of other ultrasound markers (8.5% in isolated cases, 29.1% with soft markers, 43.3% with structural defects).
  • SNP array detected additional pathogenic or likely pathogenic CNVs compared to karyotyping, especially in cases with structural defects and in pregnancies with advanced maternal age.

Conclusions:

  • Fetal nasal bone abnormalities are associated with a wide spectrum of chromosomal abnormalities beyond Down syndrome.
  • SNP array testing offers improved detection rates for chromosomal abnormalities in fetuses with nasal bone abnormalities, particularly when combined with other ultrasound findings or in advanced maternal age pregnancies.