Obstetric and neurodevelopmental outcome in fetal cerebral ventriculomegaly.

PURPOSE: The purpose of this study is to establish the obstetric and early neurological outcomes of fetuses diagnosed with intrauterine ventriculomegaly (VM). MATERIALS AND METHODS: This retrospective study included 27 fetuses with VM diagnosed by ultrasound (US) and referred for in utero magnetic resonance imaging (MRI). US and MRI reports and laboratory test results were obtained including chromosome analysis, congenital infections, and first and second trimester screening tests. Infants were evaluated for clinical outcome for six to 24 months of age. RESULTS: Twenty (51%) fetuses had mild and 19 (49%) fetuses had severe VM. Accompanying central nervous system (CNS) anomalies were statistically significantly more common in severe VM group. The outcome of mild VM group was statistically significantly better than in the severe VM group. CONCLUSIONS: The authors conclude that ventricular dimension is a significant prognostic factor to detennine the outcome of fetal cerebral VM. The presence of accompanying CNS anomalies is more common with severe VM and may be considered as an unfavorable indicator for a better outcome.

Prenatal karyotype results of fetuses with nuchal edema, cystic hygroma, and non-immune hydrops.

PURPOSE: Subcutaneous edema detected sonographically in the forms of nuchal edema, cystic hygroma (CH), or non-immune hydrops (NIH) may be a sign of chromosomal abnormalities. The aim of this study was to investigate the chromosome abnormality incidence in fetuses with nuchal edema, CH, or NIH. MATERIALS AND METHODS: The authors performed cytogenetic analysis of 218 singleton fetuses with ultrasound diagnosis of subcutaneous edema in the forms of nuchal edema in the first and second trimesters. RESULTS: Chromosomal abnormality rates were 30.4, 10.4, 36.8, 34.1, and 60% in the nuchal translucency (NT), nuchal fold thickness (NF), CH, NIH, and CH with NIH groups, respectively. In 71 cases with detected chromosomal abnormalities, 37%, 44%, 15%, and 4% of the pathologic karyotypes were identified as monosomy X, trisomy 21, trisomy 18, and trisomy 13, respectively. CONCLUSIONS: This study confirms that subcutaneous edema detected sonographically, in the forms of nuchal edema, CH, or NIH, is a significant indicator of abnormal karyotype and deserves further investigation.

Fetal abdominal wall defects: six years experience at a tertiary center.

The authors' aim was to detect the associated anomalies and their effect on the management of the fetuses with omphalocele and gastroschisis. Between the period of 2007-2013, the data of fetuses with abdominal wall defects were analyzed. Chromosomal abnormalities and associated morphologic anomalies diagnosed by ultrasonography and autopsy were evaluated. Of the. 61 fetuses, ten (20.4%) omphalocele cases and nine (75%) gastroschisis cases were isolated. Chromosomal abnormalities were found in seven fetuses with omphalocele cases. All fetuses with abnormal karyotypes had multiple additional anomalies. Termination rate was 65.3% for omphalocele group versus none in the gastroschisis group. To give better counseling about the prognosis and outcome of the fetuses with abdominal wall defects, detection of additional anomalies as well as type of the defect are essential tools even if the karyotype is normal.

Cytogenetic analysis of 6,142 amniocentesis cases: A 6-year single centre experience.

The aim of our study was to evaluate the incidences and chromosomal abnormality detection rates of various indications for genetic amniocentesis. We retrospectively analysed 6,142 amniocentesis cases performed in a single centre between January 2007 and April 2013. We assessed the indications for prenatal diagnosis, fetal karyotypes, maternal ages, fetal ultrasound findings and maternal serum screening results. The most common indication for genetic amniocentesis was an abnormal maternal serum-screening test (36.6%), followed by advanced maternal age (28%), advanced maternal age and an abnormal maternal serum screening test (14.9%) and abnormal ultrasound findings (11.2%). The highest positive predictive values obtained from the indications included abnormal ultrasound findings and abnormal maternal serum screening test (12.9%) and advanced maternal age (12.2%). Although advanced maternal age and abnormal maternal serum screening tests were the most common indicators, their association with abnormal ultrasound findings should be identified to increase the efficacy of genetic amniocentesis.

Chromosome abnormality incidence in fetuses with cerebral ventriculomegaly.

Ventriculomegaly (VM) is a marker of aneuploidy and warrants a detailed examination of fetal anatomy. Chromosomal abnormalities worsen the fetal and neonatal prognosis significantly and karyotyping of fetuses is critically important when accompanying anomalies are detected. Here, we report the genetic results of 140 fetuses with isolated and non-isolated VM detected during a second trimester ultrasound examination followed by invasive in utero diagnostic procedures for karyotyping. VM was diagnosed in seven (5%) fetuses with abnormal karyotype and the chromosomal abnormality incidence was higher in severe VM (6.8%) than mild (4.2%). Higher chromosomal abnormality rates were detected when VM was isolated (8.6%), rather than associated with any anomaly (3.8%). These results suggest that karyotype analysis should be offered to all patients with any degree of VM, regardless of its association with structural anomalies.

Chromosomal and structural anomalies in fetuses with open neural tube defects.

The aim of this study is to evaluate the frequency and types of associated anomalies with the results of ultrasonographic and postmortem examination and identify the necessity of prenatal karyotyping among fetuses with open neural tube defects (NTD). Fetuses diagnosed with NTDs between 2008 and 2012 were retrospectively analysed. A total of 167 fetuses that were prenatally karyotyped, terminated and examined at postmortem were evaluated. Associated anomalies were detected and classified by detailed ultrasonography and autopsy findings. In total, 57 fetuses (34.1%) had associated anomalies. Prenatal ultrasonography detected 73.1% of additional anomalies compared with autopsy. Three fetuses had chromosomal abnormalities with multiple additional anomalies. A complete anatomical survey and genetic evaluation is needed for the fetuses with NTDs. We found lower chromosomal abnormality rates but due to some factors specific to NTDs, ultrasonography may not be predictive as to whether the fetus is isolated or not. We still therefore also offer chromosome analysis in isolated cases.