Prenatal examination and postmortem findings in fetuses with gastroschisis and omphalocele

Abstract

Objectives: We studied the rate of chromosomal cytogenetic abnormalities of fetuses with abnormal sonographic findings detected in the late second or third trimester. Methods: Retrospective analysis of all women at or beyond 23 gestational weeks at a single medical centre, who underwent amniocentesis during January 2012 to December 2015, indicated for abnormal sonographic findings that first appeared and were diagnosed at late second or third trimester. Primary endpoints were the results of fetal karyotype and chromosomal microarray analysis (CMA). Results: 102 women with 103 fetuses underwent amniocentesis due to late onset abnormal sonographic findings. All fetuses had a normal karyotype. Ninety-five women also had CMA performed. The detection rate of abnormal CMA (5/95, 5.3%) was similar to that of women who underwent amniocentesis due to abnormal early onset ultrasound findings detected at routine prenatal screening tests during the 1st or early 2nd trimester (7.3%, p=.46) and significantly higher than that for women who performed amniocentesis and CMA upon request, without having any fetal abnormal sonographic findings or medical indication for CMA (0.99%, p<.0001). Conclusions: Late onset sonographic findings are an indication for amniocentesis. We suggest that if amniocentesis is performed, CMA should be applied to evaluate fetuses with late onset abnormal sonographic findings. Objectives: To assess the value of genetic testing and morphological examination in a cohort of patients with gastroschisis.

A Retrospective Study of Cytogenetic Results From Amniotic Fluid in 5328 Fetuses With Abnormal Obstetric Sonographic Findings

“…One point that should be mentioned is that we did not see isolated micrognathia cases; all 20 cases had multiple‐system anomalies. Also, the detection rates for holoprosencephaly and cystic hygroma were lower in our study than those reported previously, and the detection rates for fetuses with gastroschisis were in the range of 0% to 4%, whereas our result was higher than that. Maybe the amount of sample sizes and selection biases were the reasons for this difference.…”

Triploidy/Diploidy Mosaisizm, Diandry and Uniparental Isodisomy: Fetus with Omphalocele and Contracted Finger

“…Omphalocele is an abdominal wall defect that bowel and/or other visceral organs herniate from umbilical ring which is covered by peritoneal sac. The prevalence for 11-14 weeks is 1:1000 and the incidence for live-born is 1-2, 5:10000 [1]. Omphalocele pathogenesis is not clear but familial and genetical factors play an important role to development of omphalocele [1].…”

“…The prevalence for 11-14 weeks is 1:1000 and the incidence for live-born is 1-2, 5:10000 [1]. Omphalocele pathogenesis is not clear but familial and genetical factors play an important role to development of omphalocele [1]. In the 11-14 weeks, it can be diagnosed easily by ultrasound scan used for nuchal translucency.…”

Omphalocele—What should we tell the prospective parents?

“…Sonographic detection of an omphalocele can be made as early as 12 weeks' gestation ( Figure 4). [11][12][13][14] Earlier diagnosis is discouraged as normal physiologic herniation of the fetal small bowel can lead to false positives. Although an exception is the presence of extracorporeal liver which would indicate the presence of an omphalocele.…”

“…Missed diagnosis or late diagnosis of omphalocele in the third trimester is rare (5%-7%). 13,[15][16][17][18][19] The principal sonographic finding is the presence of a membrane covered mass adjacent to the fetal abdomen at the level of the umbilical cord insertion (Box 1). 2 Virtually, all omphaloceles contain small bowel loops and up to 80% contain parts of the liver.…”