Clinical Conundrum: Polyhydramnios as a Marker for a Fetal Genetic Syndrome in the Canadian Old Order Mennonite Population

Janine Hutson; Victoria Mok Siu; C Anthony Rupar

doi:10.1016/j.jogc.2022.01.011

Clinical Conundrum: Polyhydramnios as a Marker for a Fetal Genetic Syndrome in the Canadian Old Order Mennonite Population

J Obstet Gynaecol Can. 2022 Jul;44(7):798-802. doi: 10.1016/j.jogc.2022.01.011. Epub 2022 Feb 4.

Authors

Janine Hutson¹, Victoria Mok Siu², C Anthony Rupar³

Affiliations

¹ London Heatlh Sciences Centre, London, ON; Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Schulich School of Medicine and Dentistry, Western University, London, ON.
² London Heatlh Sciences Centre, London, ON; Division of Medical Genetics, Department of Pediatrics, Schulich School of Medicine and Dentistry, Western University, London, ON. Electronic address: victoria.siu@lhsc.on.ca.
³ London Heatlh Sciences Centre, London, ON; Department of Pathology and Laboratory Medicine, Schulich School of Medicine and Dentistry, Western University, London, ON.

PMID: 35131504
DOI: 10.1016/j.jogc.2022.01.011

Abstract

A 35-year-old woman was referred to genetics for 2 soft markers but was also found to have polyhydramnios. The couple were Old Order Mennonite, and carrier testing allowed for targeted investigation of syndromes associated with polyhydramnios in this population. Both parents were carriers of a 7304 bp deletion in the STRADA (LYK5) gene, causing an autosomal recessive syndrome of polyhydramnios, megalencephaly, and symptomatic epilepsy. This led to early recognition and treatment of neonatal seizures. Targeted testing can significantly shorten the diagnostic odyssey and decrease the cost of investigations, an especially important consideration for families who do not accept health insurance.

Keywords: Amish; Mennonite; epilepsy; megalencephaly; polyhydramnios; prenatal diagnosis.

Publication types

Case Reports

MeSH terms

Adult
Canada
Epilepsy* / diagnosis
Epilepsy* / genetics
Female
Humans
Infant, Newborn
Polyhydramnios* / diagnosis
Polyhydramnios* / genetics
Pregnancy
Syndrome