Diagnosis and Genetic Counseling Before and After the Birth of Children With Joubert Syndrome and Beckwith-Wiedemann Syndrome

TL;DR

This paper discusses a case where a child was diagnosed with two genetic syndromes, highlighting the importance of thorough diagnosis and genetic counseling.

Contribution

The novelty lies in emphasizing the need to consider multiple genetic conditions during diagnosis and counseling.

Findings

A child was diagnosed with Joubert syndrome prenatally and Beckwith-Wiedemann syndrome postnatally.

Detailed genetic testing confirmed both diagnoses, guiding future treatment and pregnancy planning.

Abstract

The patient was a second child prenatally diagnosed with Joubert syndrome (JS) by ultrasound examination and family history of a first child with JS. After birth, the patient was also diagnosed with Beckwith-Wiedemann syndrome. Here, we report this case as a lesson on the importance of focusing on diagnosing the first hereditary disease and also considering the possibility of the development of a second genetic disease when providing treatment. We were able to confirm the diagnosis of both syndromes by detailed genetic testing after birth, allowing genetic counseling for future treatment and the next pregnancy.

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