Objectives

A patient with a singleton pregnancy was referred for

In order to assess changes in sonographic visualization over the last 6 years, 7092 second- and third-trimester ultrasound examinations from separate pregnancies in three individual years (1451 in 1985, 3016 in 1988, and 2625 in 1991) were compared. Overall, visualization across all gestational ages improved from 63.9% (1985) to 85.8% (1988) to 87.3% (1991), with the year in which the scan was performed explaining 19.6% of the variance in visualization. Maternal size (as determined by body mass index) remained the major determinant of ultrasound visualization in 1991 (r(2) = 11.2%), with gestational age explaining only 5.2% additional variance. Overall organ visualization was maximal at 21-23 weeks' gestation, with the decline in later gestation primarily accounted for by worsened visualization of fetal extremities and spine. Improved fetal visualization earlier in the second trimester and the advent of embryonic visualization in the first trimester may allow a continuum of prenatal sonographic diagnosis.

What's already known about this topic? Nonimmune fetal hydrops (NIFH) is a heterogeneous condition and establishing a diagnosis can be challenging. Inborn errors of metabolism are one of many possible etiologies for NIFH. Inborn errors of metabolism are often missed in utero. What does this study add? We present two cases of NIFH caused by underlying lysosomal storage disease: galactosialidosis and mucopolysaccharidosis type VII. The unique finding of vacuolated lymphocytes in fetal peritoneal fluid lead to the diagnosis.