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Karyotyping01:17

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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.
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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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Genetic evaluation for twin pregnancies using karyotyping and single nucleotide polymorphism array analysis.

Xiaoqing Wu1, Baojia Huang2, Xiaorui Xie3

  • 1Medical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, Fujian, China; Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, Fujian, China; Department of Laboratory Medicine, Fujian Medical University, Fuzhou, Fujian, China.

Gene
|November 17, 2023
PubMed
Summary

Chromosomal abnormalities were assessed in 530 twin pregnancies. Dichorionic diamniotic (DCDA) twins showed higher rates of aneuploidy and copy number variants than monochorionic diamniotic (MCDA) twins, particularly with ultrasound abnormalities.

Keywords:
AneuploidyCopy number variantsDichorionic diamnioticKaryotypingMonochorionic diamnioticSingle nucleotide polymorphism array (SNP array)Twin pregnancy

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Area of Science:

  • Perinatal Medicine
  • Genetics
  • Obstetrics

Background:

  • Twin pregnancies present unique challenges in prenatal diagnosis.
  • Chromosomal abnormalities occur in a significant proportion of twin gestations.
  • Distinguishing between monochorionic diamniotic (MCDA) and dichorionic diamniotic (DCDA) twins is crucial for risk assessment.

Purpose of the Study:

  • To evaluate the prevalence and types of chromosomal abnormalities in twin pregnancies.
  • To compare the rates of abnormalities between MCDA and DCDA twins.
  • To assess the utility of karyotyping and SNP array in detecting these abnormalities.

Main Methods:

  • Karyotyping and single-nucleotide polymorphism (SNP) array analysis were performed on 530 twin pregnancies.
  • Cases were categorized as MCDA (177) or DCDA (353).
  • Data were analyzed based on chorionic properties, clinical indications, and ultrasound findings.

Main Results:

  • Chromosomal abnormalities were detected in 50 fetuses, with aneuploidy being the most common finding.
  • DCDA pregnancies exhibited higher aneuploidy rates (35 cases) compared to MCDA pregnancies (10 cases).
  • Trisomy 21 was the most frequent abnormality; SNP array identified clinically significant copy number variants more often in DCDA twins with ultrasound abnormalities.

Conclusions:

  • Chromosomal aneuploidies are the primary abnormalities in twin pregnancies.
  • DCDA pregnancies, especially those with ultrasound abnormalities, have a higher likelihood of detectable chromosomal abnormalities and copy number variants.
  • Karyotyping and SNP array are valuable tools for comprehensive prenatal diagnosis in twin gestations.