The Prenatal Diagnosis of Seven Fetuses with 7q11.23 Microdeletion or Microduplication

Area of Science:

• Genetics
• Prenatal Diagnosis
• Human Genetics

Background:

• Limited data exists on fetuses with 7q11.23 copy number variants (CNVs).
• Understanding the clinical significance of these CNVs in prenatal diagnosis is essential.

Purpose of the Study:

• To investigate the clinical significance of 7q11.23 CNVs identified during prenatal diagnosis.
• To evaluate the utility of specific molecular techniques for detecting these variants.

Main Methods:

• Amniocentesis was performed on pregnant women with suspected fetal abnormalities.
• Karyotype analysis, BACs-on-Beads (BoBs), and chromosome microarray analysis (CMA) were employed for CNV detection.

Main Results:

• Seven fetuses with 7q11.23 CNVs were identified: five with microdeletions and two with microduplications.
• One case involved a 7q11.23 microdeletion with additional CNVs.
• Another case presented a 7q11.23 microduplication in a newborn with a normal phenotype.

Conclusions:

• 7q11.23 CNVs can lead to diverse clinical manifestations with low specificity.
• The combined use of BoBs and CMA facilitates prenatal diagnosis of 7q11.23 CNVs.
• This study provides a foundation for prenatal diagnosis and genetic counseling concerning 7q11.23 CNVs.