Autosomal recessive non‐immune hydrops fetalis caused by systemic lymphangiectasia

Vapor‐induced swelling of supported methacrylic and siloxane polymer films: Determination of interaction parameters

“…Familial recurrence of idiopathic hydrops has been described [Irons et al, 1996; Njolstad et al, 1998; Jacquemont et al, 2000], and an autosomal recessive mode of inheritance has been hypothesized for nonimmune hydrops fetalis [Scott‐Emuakpor et al, 1981; Moerman et al, 1993; Wieacker et al, 2005]. In OMIM a catalogue number has been assigned to Idiopathic/Nonimmune Hydrops Fetalis (#236750), although it is noted that “the number sign (#) is used with this entry because nonimmune hydrops fetalis is a feature of many genetic disorders and is therefore not strictly idiopathic.” Thus, idiopathic/nonimmune hydrops fetalis is considered as a single entry in OMIM, possibly leading to some confusion, although it may in principle be correct: as soon as a specific diagnosis is established, the term ‘idiopathic’ can no longer be used.…”

Nonimmune idiopathic hydrops fetalis and congenital lymphatic dysplasia

“…Familial recurrence of idiopathic hydrops has been described [Irons et al, 1996; Njolstad et al, 1998; Jacquemont et al, 2000], and an autosomal recessive mode of inheritance has been hypothesized for nonimmune hydrops fetalis [Scott‐Emuakpor et al, 1981; Moerman et al, 1993; Wieacker et al, 2005]. In OMIM a catalogue number has been assigned to Idiopathic/Nonimmune Hydrops Fetalis (#236750), although it is noted that “the number sign (#) is used with this entry because nonimmune hydrops fetalis is a feature of many genetic disorders and is therefore not strictly idiopathic.” Thus, idiopathic/nonimmune hydrops fetalis is considered as a single entry in OMIM, possibly leading to some confusion, although it may in principle be correct: as soon as a specific diagnosis is established, the term ‘idiopathic’ can no longer be used.…”

A homozygous variant in growth and differentiation factor 2 (GDF2) may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis

“…Genetic disorders may also lead to NIHF and include a wide spectrum of diseases, including chromosomal aneuplodies (trisomies, monosomy X, triploidy), hematological diseases (α-thalassemia), monogenic syndromes (RASopathies, Kabuki syndrome), inborn errors of metabolism (lysosomal storage disease) and lymphatic dysplasia (Bellini et al, 2015;Mardy et al, 2019;McPherson, 2019;Moreno et al, 2013;Quinlan-Jones et al, 2019;Weissbach et al, 2019). Few familial cases of nonimmune hydrops fetalis have been described and in some of the cases with lymphatic dysplasia and/or lymphangiectasia bi-allelic variants in CCBE1, ADAMTS3, FAT4, CAL-CRL, and PIEZO1 have been reported (Alders et al, 2009;Alders et al, 2014;Brouillard et al, 2017;Datkhaeva et al, 2018;Delabaere et al, 2008;Fotiou et al, 2015;Jacquemont, Barbarot, Boceno, Stalder, & David, 2000;Mackie et al, 2018;Njolstad, Reigstad, Westby, & Espeland, 1998;Stevenson, Pysher, Ward, & Carey, 2006;Wieacker, Muschke, Pollak, & Muller, 2005). However, even with conventional and state-of-the-art diagnostics like exome sequencing an underlying genetic defect remains undetermined in the majority of infants with hydrops (Lord et al, 2019;Yates et al, 2017).…”