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Table 2 Reported incidence of lysosomal storage disorder and inborn errors of metabolism, respectively in 13 different studies on NIHF or congenital ascites

From: Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF) - more common than assumed? Report of four cases with transient NIHF and a review of the literature

Author Total number of patients   LSD %
Gillan[19] not defined 10-yr review of coded diagnosis of neonatal ascites 11%
Burin[11] 33 NIHF patients (28 pregnancies between 16 and 32 weeks, 5 newborns) 15%
Machin[20] 804 Literature review of HF case series (1980-1989) 1%
Jauniaux[21] 600 Literature review of NIHF with focus on genetic disorders (1982-1990) 1%
Groener[22] 17 NIHF detected by fetal ultrasound 5.9%
Piraud[23] 70 AF due to abnormal ultrasound findings (54 cases NIHF) 14.3% - 18%
Kooper[24] 75 Pregnancies 14-36 weeks of gestation, AF or cultured amniocytes 5.3% - 8%
Favre[16] 79 Fetal ascites of NIHF detected by routine ultrasound during the second or third trimester 8.9%
Mahoney[25] 27 Sonographic evaluation 13-34 weeks of gestation with NIHF 3.7%
Bellini[17] 6.361 Literature review of NIHF 1.1% (IEM)
Abrams[26] 414 NIHF, retrospective review of a large national data set (1996-2005) 1.2% (IEM)
MacFadden[27] 90 Review all autopsy cases with HF over an 11- yr period 4.4% (IEM)
Larroche[28] 38 NIHF fetuses and newborns with focus on fetal cerebral ultrasounds 7.9% (IEM)
  1. AF: Amnion fluid, IEM: Inborn errors of metabolism, HF: Hydrops fetalis, NIHF: Non Immunological Hydrops fetalis.