N. Yanai

Fetal intracranial hemorrhage (fetal stroke): does grade matter?

To determine if the severity of antenatally diagnosed hemorrhagic fetal brain insults and fetal stroke detected by ultrasound and magnetic resonance imaging (MRI) predicts postnatal neurodevelopmental prognosis.

The Role of Magnetic Resonance Imaging in the Evaluation of Isolated Mild Ventriculomegaly

Objective. Isolated mild ventriculomegaly is defined as dilatation of the lateral ventricle from 10 to 15 mm, with no other structural abnormalities observed at the time of diagnosis. Its reported frequency is between 1 per 50 and 1 per 700 deliveries. There are no universal recommendations for evaluation of isolated mild ventriculomegaly. Targeted sonography, karyotype analysis, and viral antigen testing, particularly for cytomegalovirus, are most often used for further investigation of this finding. We studied the role of magnetic resonance imaging as part of the prenatal evaluation of isolated mild ventriculomegaly. Methods. Thirty‐six pregnant women were referred to 2 Hadassah hospitals between 1999 and 2002 for evaluation of isolated mild ventriculomegaly. They underwent targeted sonography to exclude other anomalies, genetic amniocentesis for fetal karyotype, and serologic cytomegalovirus tests. Mild ventriculomegaly was the only pathologic finding diagnosed. Fetal brain magnetic resonance imaging was performed to evaluate the correlation between sonographic and magnetic resonance imaging findings and the additional contribution of magnetic resonance imaging in evaluating isolated mild ventriculomegaly. Results. Thirty‐six magnetic resonance imaging studies were performed. All tests were adequate for evaluation. In 3 (8.3%) of 36 cases, magnetic resonance imaging showed additional findings: in a severely obese woman, ventricular dilatation up to 18 mm and periventricular cystic lesions with abnormal sulcation suggestive of diffuse parenchymal abnormality were diagnosed, and in 2 cases, bleeding in germinal centers was found. On subsequent sonographic examination, no other finding but isolated mild ventriculomegaly was diagnosed. In the remaining 33 women (91.7%), magnetic resonance imaging studies correlated well with sonographic findings. Further sonographic follow‐up in this subgroup failed to reveal any other pathologic findings. Conclusions. Our study supports the view that magnetic resonance imaging should be considered as part of the evaluation of isolated mild ventriculomegaly, especially when objective difficulties preclude detailed sonographic examination.

Application of 3-Dimensional Ultrasonography to Imaging the Fetal Anal Canal

Objective. Ultrasonography has been applied previously to the assessment of the fetal anal canal. We aimed to examine the potential of 3‐dimensional ultrasonography (3DUS) in the evaluation of the fetal anal canal and to obtain normal fetal anal canal measurements. Methods. Patients were recruited from an unselected population of gravidas with known gestational age (by dates or first‐trimester ultrasonography) and without known fetal anomalies presenting for fetal evaluation in the ultrasound units of 2 tertiary care centers between 16 and 39 gestational weeks. In addition to the ordered scan, 3DUS imaging of the fetal anal canal was performed. Transverse and sagittal views and volumes were obtained. Measurements of the fetal anal canal anteroposterior diameter, lateral diameter, and length were performed in transverse and sagittal planes, respectively, and scatterplots of these dimensions were created. Measurements were performed and repeated on raw data sets by 2 independent observers, and the results were analyzed to estimate interobserver and intraobserver reliability. Results. A total of 186 patients were examined for this study at 16 to 39 weeks gestation (mean, 27.4 weeks). The anteroposterior diameter of the fetal anal canal in this study group ranged from 4 to 21 mm (mean, 11.2 mm; SD, ±3.5 mm), whereas the lateral diameter ranged from 7 to 18 mm (mean, 9.1 mm; SD, ±3.0 mm). The length of the fetal anal canal in this study group ranged from 3 to 24 mm (mean, 14.3 mm; SD, ±3.8 mm). Conclusions. Ultrasonographic assessment of the fetal anal canal with 3DUS is feasible. Scatterplots were created for internal anal sphincter width and length measurements from 16 to 39 weeks gestation. Larger studies are necessary to establish nomograms of these measurements and their application to the evaluation of pathologic cases. We speculate that 3DUS assessment of the fetal anal canal may improve detection rates of disorders involving this system.

A “See and Treat” Office Procedure for Retained Products of Conception Removal After Normal Vaginal Delivery Using Manual Vacuum Aspiration: Preliminary Efficacy and Reproductive Outcomes

STUDY OBJECTIVEnTo compare the efficacy and reproductive outcomes of an ultrasound-guided manual vacuum aspiration (MVA) procedure with the widely accepted operative hysteroscopic (OH) procedure in the removal of retained products of conception (RPOCs) after normal vaginal delivery.nnnDESIGNnA retrospective cohort study (Canadian Task Force classification II-2).nnnSETTINGnA university-affiliated tertiary medical center.nnnPATIENTSnEighty-six patients after normal vaginal delivery diagnosed with RPOCs from 2005 through 2015. This study was approved by the local institutional review board.nnnINTERVENTIONSnTreatment with either MVA or OH for patients diagnosed with RPOCs.nnnMEASUREMENTS AND MAIN RESULTSnOf 86 patients, 23 underwent remnant removal by ultrasound-guided MVA using a 6- to 7-mm catheter in a see and treat office procedure. Sixty-three patients underwent remnant removal using the OH procedure. Follow-up included sonographic examination 3 to 5xa0weeks after the procedure and long-term follow-up on complications and reproductive outcomes. Successful remnant evacuation and the overall complications rates were similar when comparing the MVA group and the OH group (95.7% vs 96.8% and 4.3% vs 4.7%, respectively). Conception rates and miscarriage rates were comparable in the MVA and OH groups (78.6% vs 72.2% and 9.1% vs 14.8%, respectively).nnnCONCLUSIONnPreliminary results from 23 patients suggest that MVA is an efficient procedure with low complication rates and satisfactory reproductive outcomes. It does not require anesthesia or operating room facilities, allowing an immediate and inexpensive see and treat option for RPOCs. Further larger controlled trials are required.

Prenatal observation of nystagmus, cataracts, and brain abnormalities in a case of Zellweger spectrum disorder syndrome

Department of Obstetrics and Gynecology, Shaare Zedek Medical Center, Jerusalem, Israel Department of Genetics, Shaare Zedek Medical Center, Jerusalem, Israel Pediatric Neurology Unit, Shaare Zedek Medical Center, Jerusalem, Israel Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Hospital, Jerusalem, Israel Department of Obstetrics & Gynecology, Hadassah-Hebrew University Hospital, Jerusalem, Israel *Correspondence to: Ori Shen. E-mail: orishen@netvision.net.il

The impact of late amniocentesis in the modern genomic technologies era

Traditionally, amniocentesis is performed between 17 and 23u2009weeks of gestation. This enables decisions regarding the course of pregnancy to be made before viability. Less frequently, amniocentesis is performed in the third trimester. Advanced genomic technologies such as chromosomal microarray analysis (CMA) provide more detailed information about the fetus compared with traditional G‐banded chromosomal analysis. The aim of this study was to assess the indications for and safety of late amniocentesis, genetic‐test results (especially in the context of CMA technology) and outcome of pregnancies that underwent the procedure after 24u2009weeks.

P05.01: Chromosomal microarray: beyond copy number variations: Poster discussion hub abstracts

Objectives: Chromosomal microarray analysis (CMA) is the modality of choice for prenatal diagnosis when fetal malformations are found. Microdeletion/microduplication syndromes diagnosed by CMA contribute to the diagnostic rate, beyond that of chromosomal analysis, by 3-8%. However, the CMA platform can also provide diagnoses of monogenic diseases, imprinting disorders and uniparental disomy (UPD). Methods: Three unrelated expectant couples underwent amniocentesis for varying reasons: IUGR, very abnormal maternal serum analytes, and patient’s request. Fetal genomic DNA was extracted from amniocytes and high resolution CMA analysis was performed using Affymetrix CytoScan array. Results: CMA analysis revealed a microdeletion of 75kbp encompassing the BLM gene in the IUGR fetus. Further investigation established a fetal diagnosis of Bloom syndrome upon observation of maternal deletion of one allele of the gene and paternal founder Ashkenazi mutation on the other fetal allele. A 14q32.2q32.31deletion encompassing 3.4-Mbp was found in the fetus referred following a finding of abnormal maternal serum analytes. Further SNP analysis indicated that the deleted segment originated from the maternal copy of chromosome 14, leading to the diagnosis of Kagami Ogata syndrome, an imprinting disorder. The figure shows the dysplastic corpus callosum, placentomegaly, DV agenesis draining to IVC, and CMA results of this case. The third fetal CMA, performed at parental request, revealed maternal UPD of most of chromosome 11q without any clear clinical significance. Conclusions: Comprehensive CMA analysis including both platforms of oligo and SNP array may establish the diagnosis of a spectrum of disorders that is much broader than copy number variations.

Ultrasound findings provide clues to investigate founder mutations expressed as runs of homozygosity in chromosomal microarray studies

Chromosomal microarray analysis is effectively applied prenatally to detect copy number changes. Single nucleotide polymorphism (SNP) probes included in the microarray platform can detect regions of excessive homozygosity and identical‐by‐descent genomic stretches. The utility of the latter as part of prenatal diagnosis is not well established. Recessive founder mutations are well recognized within distinct ethnic groups. Combining these data with prenatal sonography provides accurate focused molecular diagnoses quickly. We aimed to evaluate the application of this approach in expectant families presenting to our unit.

OP22.08: Integrating ultrasound findings with chromosomal microarray stretches of homozygosity and principles in founder populations

3.4% and 4.2% to 2.7% and 2.8% respectively. But there was no increase in IPD rate for fetal structural abnormalities (p=0.7771). The number of IPD required to detect one significant chromosomal abnormality decreased from 1 in 15 to 1 in 9 (p=0.003). There was no significant change in the prenatal detection rate of Down syndrome during the study period (average 92.1%; p=0.4219). However, the proportion of atypical aneuploidies detected by using NIPT as a contingent approach was non-significantly smaller than without (0.4% vs 1.1%, p>0.05). Conclusions: Introduction of NIPT as a contingent approach resulted in more judicious use of IPD, without reducing the detection rate of Down syndrome but with a decreasing trend of detecting atypical aneuploidies.

OP14.10: Congenital CMV infection: prenatal predictors and outcome

Methods: We reviewed all cases of prenatally diagnosed VGAM managed in our referral center during a 10-year period. VGAM was categorized into isolated forms and forms associated with any other abnormality, based on fetal ultrasound and MRI findings. Poor outcomes comprised termination of pregnancy with confirmation of antenatal findings, perinatal death, and severe cardiac and/or neurological impairment in survivors. Results: 21 cases of prenatally diagnosed VGAM were managed in our center. Four cases were isolated (19%) and 17 (81%) were associated with other anomalies. There were 9 terminations (43.0%) and 6 neonatal deaths (28.5%). Six children (28.5%) were still alive at last follow-up. Among them, three were considered prenatally as isolated VGAM. They have good outcome at four, three and one years of follow up. The three other were considered prenatally as associated VGAM. One child has a severe developmental and mental retardation at the last follow-up (2 years of age). The two other children have moderate mental retardation as assessed by physical and neurological examination at last examination (six month and 18 months respectively). VGAM associated with other anomalies was strongly associated with a poor outcome as compared to isolated forms (P < 10-4). Conclusions: Fetuses with VGAM and any associated ultrasound or MRI abnormality have a poor outcome, while those with strictly isolated VGAM tend to have a normal outcome.