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

Published:February 03, 2022DOI:


      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.


      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'


      Subscribe to Journal of Obstetrics and Gynaecology Canada
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect


        • Dashe J.S.
        • Pressman E.K.
        • Hibbard J.U.
        SMFM consult series #46: evaluation and management of polyhydramnios.
        Am J Obstet Gynecol. 2018; 219: B2-B8
        • Puffenberger E.G.
        Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania.
        Am J Med Genet C Semin Med Genet. 2003; 121C: 18-31
        • Payne M.
        • Rupar C.A.
        • Siu G.M.
        • et al.
        Amish, Mennonite, and Hutterite genetic disorder database.
        Paediatr Child Health. 2011; 16: e23-e24
        • Puffenberger E.G.
        • Strauss K.A.
        • Ramsey K.E.
        • et al.
        Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5.
        Brain. 2007; 130: 1929-1941
        • Brenneman G.
        Abortion: review of Mennonite literature.
        Mennon Quart Rev. 1979; LIII: 160-172
        • Parker W.E.
        • Orlova K.A.
        • Parker W.H.
        • et al.
        Rapamycin prevents seizures after depletion of STRADA in a rare neurodevelopmental disorder.
        Sci Transl Med. 2013; 5: 182ra53
        • Fisher K.A.
        • Newbold K.B.
        • Eyles J.D.
        • et al.
        Physical health in a Canadian Old Order Mennonite community.
        Rural Remote Health. 2013; 13: 2252
        • Campanella K.
        • Korbin J.E.
        • Acheson L.
        Pregnancy and childbirth among the Amish.
        Soc Sci Med. 1993; 36: 333-342
        • Faller N.
        • Gautschi I.
        • Schild L.
        Functional analysis of a missense mutation in the serine protease inhibitor SPINT2 associated with congenital sodium diarrhea.
        PLoS One. 2014; 9e94267
        • Navarro C.L.
        • De Sandre-Giovannoli A.
        • Bernard R.
        • et al.
        Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.
        Hum Mol Genet. 2004; 13: 2493-2503
        • Strauss K.A.
        • Puffenberger E.G.
        Genetics, medicine, and the Plain people.
        Annu Rev Genomics Hum Genet. 2009; 10: 513-536