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Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions

Natalie Blagowidow¹, Beata Nowakowska², Erica Schindewolf³

¹Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, MD 21204, USA.

|January 21, 2023

Summary

Early diagnosis of 22q11.2 deletion syndrome (22q11.2DS) is crucial. This review offers guidance on prenatal screening and diagnostic testing for 22q11.2DS, emphasizing genetic counseling for optimal perinatal care.

Area of Science:

Medical Genetics
Prenatal Diagnosis
Reproductive Medicine

Background:

Chromosome 22q11.2 microdeletion and 22q11.2 deletion syndrome (22q11.2DS) require timely diagnosis.
Prenatal detection and management are critical for affected pregnancies.
Genetic counseling is essential for individuals with 22q11.2DS due to a 50% transmission risk.

Conclusions:

Prenatal screening and diagnostic testing options for 22q11.2DS should be clearly communicated.
Genetic counseling is vital for informed decision-making regarding testing and management.
Optimizing perinatal care for 22q11.2DS requires early detection and comprehensive counseling.

Keywords:

22q11.2 deletion syndrome fetal cardiac anomaly noninvasive prenatal screening preimplantation genetic testing prenatal ultrasound

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