Prenatal Diagnosis of Body Stalk Anomaly at 9 Weeks of Gestation

Abstract

We report on a case of embryonic anomaly detected at 9 + 5 gestational weeks. The lower part of the embryo was located in the coelomic cavity. Lower extremities could not be depicted. The abdominal wall showed the appearance of omphalocoele. After termination of pregnancy at 10 weeks, autopsy confirmed the anomaly of the lower embryonic parts consistent with the diagnosis of body stalk anomaly. To our knowledge, this is the first observation of this condition before 10 gestational weeks.

Three-dimensional multiplanar ultrasound in a limb-body wall complex fetus: Clinical evidence for counseling

“…Moreover, the diagnosis of body stalk anomaly (BSA) has also been reported before the 10th week of gestation [3]. In this study the embryo abdomen finding was similar to omphalocele but the lower embryonic body was located in the celomic cavity confirming BSA.…”

Concordant body stalk anomaly in a monoamniotic twin pregnancy at 9 weeks

“…Out of 23 fetuses with body stalk anomaly at 10–14 weeks described in these three series, 17 (74%) had a nuchal translucency above the 95th percentile . We are aware of only one case report of body stalk anomaly diagnosed before 10 gestational weeks: at 9 +5 weeks the embryo was visualized within the coelomic cavity outside an apparently intact amniotic membrane and had multiple anomalies including a skull and brain defect, abdominal wall defect, kyphoscoliosis, and gross deformities of the lower limbs. Most published cases of twin pregnancies complicated by body stalk anomaly have been reviewed by Vidaeff et al .…”

Body-stalk anomaly. A case report and review of the literature

“…BSA is a rare syndrome, with an incidence difficult to estimate. Different studies showed different prevalence: Body-stalk anomaly one multicenter study found the prevalence around 1 in 7500 foetuses at 10-14 weeks of gestation (2) , while in another the prevalence was reported at1 per 32000 births (18)(19)(20)(21)(22)(23)(24) . With more pregnancies obtained by in vitro fertilization techniques secondary to progresses made in this direction, BSA cases are currently being reported in twin pregnancies, either monozygotic or dizygotic (21,25,26) and even in triplet pregnancy (4,8) .…”

“…With the progress made in early ultrasound assessment of the pregnancy, nowadays the BSA is being diagnosed in the first trimester. Since 2000, when the first case of BSA was diagnosed at 9+5 weeks (22) , the literature reports of cases discovered in early first trimester increased (3,5,21,23,25,27) . Using the nuchal translucency as maker for first trimester anomalies, we found a 2009 and two 2011 studies stating the importance of first trimester screening in early detection of BSA (5,28,29) .…”