Antenatal detection of fetal structural, defects with ultrasound

Abstract

A case report of a cystic hygroma detected in utero by ultrasound at 16 weeks' gestation is presented. The potential for early second trimester detection of both CNS and non-CNS structural defects by diagnostic ultrasound is discussed "High risk" groups for fetal structural defects can be identified for screening purposes.

Unusual autosomal recessive lymphatic anomalies in two unrelated Amish families

“…Recurrence of cystic hygroma in the absence of extra-lymphatic anomalies was reported in seven families [Morgan et al, 1975;Bieber et al, 1979;Dallapiccola et al, 1984;Reuss et al, 1987;Watson et al, 1990;Tricoire et al, 1993]. One of the sibs in the report of Morgan et al [1975] had encephalocele in addition to the cystic hygroma (phenotypic female). The other sib had only cystic hygroma and phenotypic sex was not reported.…”

Fetal Cystic Hygroma and Turner's Syndrome

“…However, in the absence of generalized edema, it is less certain what the chromosome complement and risk of recurrence will be. Both trisomy 21 and trisomy 18 have been reported in association with fetal cystic hygroma, and additional chro¬ mosomal anomalies may be found in future studies.13,14 Familial occurrence of fetal cystic hygroma is sometimes associated with cases demonstrating normal karyotype. In such cases, par¬ ents can be advised of a possible autosomal recessive inheritance pattern and encouraged to monitor future pregnancies with prenatal ultrasound.…”

Cystic hygroma simulating an encephalocele

“…An elevated amniotic fluid AFP would not have confirmed a fetal NTD, as inadvertent aspiration of the cystic hygroma may give raised amniotic fluid AFP (Sutherland et al, 1977;Sellar, 1977;Cowchock et al, 1982). On ultrasound examination, the presence of trabeculae within the cystic mass may favour a cystic hygroma rather than an encephalocele (Morgan et al, 1975;Cowchock et al, 1982). Cystic hygromas usually occur in Turner's syndrome, monosomy X (Sellar, 1977) but may also occur in Noonan's syndrome (McKusick, 1978), and in trisomy 21 (Stephens and Shepard, 1981).…”