Intrauterine phenotypic features associated with 16p11.2 recurrent microdeletions

Area of Science:

• Prenatal genetics
• Fetal medicine
• Genomic disorders

Background:

• The 16p11.2 recurrent microdeletion is a significant genetic cause of developmental abnormalities.
• Prenatal diagnosis relies on identifying genetic alterations through advanced molecular techniques.
• Abnormal ultrasound findings in fetuses can indicate underlying genetic conditions.

Purpose of the Study:

• To determine the detection rate of the 16p11.2 recurrent microdeletion in fetuses exhibiting abnormal ultrasound findings.
• To identify the characteristic ultrasound abnormalities associated with the 16p11.2 recurrent microdeletion.

Main Methods:

• A retrospective review of 2262 fetuses with abnormal ultrasound findings who underwent prenatal chromosomal microarray analysis.
• Genetic analysis of cases identified with the 16p11.2 recurrent microdeletion.
• Review of clinical and ultrasound features of affected fetuses.

Main Results:

• The 16p11.2 recurrent microdeletion was detected in 12 out of 2262 fetuses (0.5%).
• Skeletal malformations (3.6%), cardiovascular malformations (1.1%), and isolated ultrasound markers (0.4%) were observed in fetuses with the deletion.
• Vertebral defects, including hemivertebra and butterfly vertebra, were prominent skeletal abnormalities.

Conclusions:

• Skeletal malformations, particularly vertebral defects, are the most frequent ultrasound finding in fetuses with the 16p11.2 recurrent microdeletion.
• Cardiovascular malformations and isolated ultrasound markers are also associated with this microdeletion.
• Targeted genetic testing for 16p11.2 microdeletion should be considered in fetuses with specific ultrasound anomalies.