2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Utility of Negative Fetal Exome Sequencing in Diagnosing Chondrodysplasia Punctata Associated with Maternal Systemic Lupus Erythematosus: A Case Report

Utility of Negative Fetal Exome Sequencing in Diagnosing Chondrodysplasia Punctata Associated with Maternal Systemic Lupus Erythematosus: A Case Report

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Pdf Summary

This case report describes a 27-year-old pregnant woman with a history of systemic lupus erythematosus (SLE) and multiple fetal anomalies. The fetus was diagnosed with chondrodysplasia punctata (CDP), a rare congenital disorder characterized by skeletal abnormalities and distinct facial features. Genetic testing including chromosomal microarray and exome sequencing was performed to determine the cause of the condition. None of the tests detected any pathogenic or likely pathogenic variants associated with the fetal findings. This negative result helped rule out genetic causes and provided a clinical diagnosis of CDP associated with maternal SLE.<br /><br />The phenotype of CDP associated with maternal SLE has been reported in patients of various ethnic backgrounds, and it resembles other forms of CDP. However, cognitive deficits have not been reported in this association. The reason behind this phenotype and its connection to maternal SLE is still unknown, but theories suggest genetic factors and autoantibodies impacting calcium-binding proteins or influencing the vitamin K pathway.<br /><br />The early diagnosis, made at 21 weeks of gestation, allowed the clinical team to provide appropriate management recommendations and referrals earlier than if the diagnosis had been made later in the pregnancy or after birth. This also provided the patient with more time to consider her pregnancy options. The patient transferred her care to another facility, so neonatal follow-up could not be performed.<br /><br />Overall, this case highlights the importance of negative exome sequencing results in ruling out genetic causes and providing a clinical diagnosis. It also emphasizes the association between CDP and maternal SLE and the need for further research to understand the underlying mechanisms.

Asset Subtitle

Presenting Author - Christina Miller, Graduate Student; Co-Author - Kestutis Micke, MS, CGC;

Meta Tag

Ultrasound

Teratogens

Sequencing

Prenatal Diagnosis

Phenotype

Microarray

Malformation

Genetic Testing

Exome sequencing

Dysmorphology

Counseling

Congenital Anomaly

Clinical History

Bone/Joint Abnormalities

array CGH

Co-Author Kestutis Micke, MS, CGC

Presenting Author Christina Miller, Graduate Student

Keywords

pregnant woman

systemic lupus erythematosus

SLE

fetal anomalies

chondrodysplasia punctata

CDP

congenital disorder

genetic testing

chromosomal microarray

exome sequencing