Table 2 Reported incidence of lysosomal storage disorder and inborn errors of metabolism, respectively in 13 different studies on NIHF or congenital ascites
Author | Total number of patients | Â | 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) |