Ori Shen

Long-term follow up of antenatally diagnosed megaureters

AIM We have retrospectively evaluated our 17 years of experience with antenatal diagnosis of hydronephrosis that led to postnatal diagnosis of megaureter, and tried to determine criteria for surgery. PATIENTS AND METHODS Seventy-nine children (64 boys and 15 girls) with antenatal diagnosis of hydronephrosis that led to postnatal diagnosis of megaureter were followed conservatively over a period of 18 years (1988-2006). Right ureterohydronephrosis was seen in 23 children, left in 30 and 26 had bilateral ureterohydronephrosis comprising a total of 105 renal units (RU). According to SFU (Society for Fetal Urology) classification, 8 RU were grade 1, 57 grade 2, 29 grade 3 and 11 grade 4 postnatal hydronephrosis. Mean ureteral diameter was 1.2 cm. Relative renal function was in 82 RU more than 40%, in 18 RU 30-40% and in 5 RU less than 30%. Functional deterioration of the hydronephrotic kidney of more than 5%, worsening of hydronephrosis (SFU upgrade) and a persistent obstructive curve on radionuclide scans were the main indications for surgery. RESULTS Twenty-five (31%) children required surgical correction. Mean age at surgery was 14.3 months (range 3-60). Univariate analysis revealed that gender and side of obstruction are not significant predictive factors for surgery SFU grade 3-4 of postnatal hydronephrosis, Relative renal function less than 30% and ureteral diameter more than 1.33 cm were significant independent risk factors leading to reimplantation. CONCLUSIONS Only 30% of children with antenatal diagnosis of megaureter required surgical correction. Renal function less than 30%, grades 3 and 4 hydronephrosis, and ureteric diameter more than 1.33 cm are statistically significant and independent predictive factors for surgery.

Absent gallbladder on fetal ultrasound: prenatal findings and postnatal outcome

Fetal gallbladder non‐visualization on prenatal ultrasound in the second trimester is uncommon and in most cases the gallbladder is detected eventually. Associations of gallbladder non‐visualization with cystic fibrosis, aneuploidy, agenesis of the gallbladder and biliary atresia have been reported. We present our experience and review the literature.

Does Renal Function Remain Stable After Puberty in Children With Prenatal Hydronephrosis and Improved Renal Function After Pyeloplasty

PURPOSE We evaluated whether improved renal function after pyeloplasty for prenatal ureteropelvic junction obstruction persisted through puberty. MATERIALS AND METHODS A total of 441 males and 137 females with a prenatal diagnosis of hydronephrosis that led to the postnatal diagnosis of ureteropelvic junction obstruction were followed at our department from 1989 to 2008. Of the patients we reviewed the records of 49 who underwent surgery between 1989 and 1992, and completed puberty. Hydronephrosis was on the right side in 18 children (36.7%) and on the left side in 31 (63.3%). According to Society for Fetal Urology classification at first presentation postnatal hydronephrosis was grades 2 to 4 in 18 (36.7%), 23 (46.9%) and 8 children (16.3%), respectively. Initially relative renal function was more than 40% in 18 children (36.7%), between 30% and 40% in 24 (49%), and less than 30% in 7 (14.3%). Preoperatively mean +/- SEM relative renal function was 36.6% +/- 7.8% in all reviewed patients. RESULTS Improvement in hydronephrosis was confirmed in all patients. This remained stable during and after puberty in all except 2 patients, who required endopyelotomy 8 and 10 years following pyeloplasty, respectively, due to deterioration in hydronephrosis without a decrease in relative renal function. They showed improvement in the washout curve pattern after the procedure. Pyeloplasty led to increased relative renal function in the short term from 36.7% +/- 1.2% before surgery to 41.2% +/- 0.91% in all patients (p <0.001). It remained stable at 43.2% +/- 0.75% after puberty in all reviewed patients. CONCLUSIONS To our knowledge our data show for the first time that successful pyeloplasty after the prenatal diagnosis of ureteropelvic junction obstruction is associated with improved renal function throughout puberty.

Transabdominal Sonography Before Uterine Exploration as a Predictor of Retained Placental Fragments

OBJECTIVE To evaluate the diagnostic accuracy of sonography in postpartum patients thought to have retained placental fragments. METHODS The study group consisted of 39 postpartum women in whom inspection of the placenta brought up suspicion of retained placental fragments. All these women underwent manual exploration of the uterine cavity. Before the procedure, all patients had two-dimensional sonographic imaging, after which they were divided into 2 groups. The first group comprised women who were judged to have had an empty uterus or nothing but intrauterine fluid collection. The second group consisted of those in whom sonography showed echoes of what might appear as residual trophoblastic tissue, that is, echogenic, hypoechoic, or mixed echo intracavitary patterns. The sonographic patterns were then correlated with the presence or absence of retained placental fragments as found on uterine manual exploration and pathologic examination. RESULTS In 18 patients, no suspected contents were observed on sonography. In 17 of these patients, the uterus was empty on manual uterine exploration. One of these patients had residual trophoblastic tissue, which was of minimal quantity and clinically unimportant. In 21 patients, sonography suggested retained placental tissue. In 15 of these patients, pathologic examination confirmed residual trophoblastic tissue, and in the remaining 6, the uterus contained blood clots, decidua, or both. CONCLUSIONS Sonography is an effective tool for evaluating postpartum patients thought to have retained placental fragments. Normal sonographic findings might obviate the need for manual exploration of the uterine cavity. A questionable sonographic result is not an effective tool for distinguishing between placental fragments and blood clots.

Effect of Background Case Characteristics on Decisions in the Delivery Room

Background. The authors investigated whether obstetricians make different decisions about a medical test case depending on the characteristics of background cases that preceded the test case. Methods. Five hypothetical cases were sent to 1247 obstetricians. The outcome of interest was the proportion of physicians who elect to perform a cesarean on a borderline test case, presented with 4 background cases. Participants were randomly assigned to 1 of 3 conditions: 1) pathological background, in which the test case was preceded by abnormal cases, typically requiring cesarean; 2) physiological background, where the test case was preceded by relatively uncomplicated cases, often suggesting a less invasive treatment; and 3) control, where the test case appeared first. Results. A significantly higher proportion of respondents chose a cesarean when the test case was preceded by physiological cases (75.4%) than when it was preceded by pathological cases (52.2%). This tendency was observed among those actively and not actively involved in obstetrics and in physicians with different levels of training. Conclusions. A patient’s chances of undergoing cesarean section can be influenced by the immediately prior experience of the physician. This study with hypothetical vignettes found that background cases can influence physicians’ decisions. The test case was apparently perceived as more grave when it followed uncomplicated cases as compared to when it was preceded by abnormal cases. Such inconsistencies in decision making are unlikely to be fully resolved by expertise, as suggested by the lack of differences between physicians with different training levels. An understanding of such effects may contribute to more informed consideration of unappreciated influences in making decisions.

Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection

Objective: To identify the genetic basis of a recessive syndrome characterized by prenatal hyperechogenic brain foci, congenital microcephaly, hypothalamic midbrain dysplasia, epilepsy, and profound global developmental disability. Methods: Identification of the responsible gene by whole exome sequencing and homozygosity mapping. Results: Ten patients from 4 consanguineous Palestinian families manifested in utero with hyperechogenic brain foci, microcephaly, and intrauterine growth retardation. Postnatally, patients had progressive severe microcephaly, neonatal seizures, and virtually no developmental milestones. Brain imaging revealed dysplastic elongated masses in the midbrain–hypothalamus–optic tract area. Whole exome sequencing of one affected child revealed only PCDH12 c.2515C>T, p.R839X, to be homozygous in the proband and to cosegregate with the condition in her family. The allele frequency of PCDH12 p.R839X is <0.00001 worldwide. Genotyping PCDH12 p.R839X in 3 other families with affected children yielded perfect cosegregation with the phenotype (probability by chance is 2.0 × 10−12). Homozygosity mapping revealed that PCDH12 p.R839X lies in the largest homozygous region (11.7 MB) shared by all affected patients. The mutation reduces transcript expression by 84% (p < 2.4 × 10−13). PCDH12 is a vascular endothelial protocadherin that promotes cellular adhesion. Endothelial adhesion disruptions due to mutations in OCLN or JAM3 also cause congenital microcephaly, intracranial calcifications, and profound psychomotor disability. Conclusions: Loss of function of PCDH12 leads to recessive congenital microcephaly with profound developmental disability. The phenotype resembles Aicardi-Goutières syndrome and in utero infections. In cases with similar manifestations but no evidence of infection, our results suggest consideration of an additional, albeit rare, cause of congenital microcephaly.

Abnormal shape of the cavum septi pellucidi: an indirect sign of partial agenesis of the corpus callosum

To describe and assess the presence of a new indirect sign of partial agenesis of the corpus callosum (pACC): an abnormally shaped cavum septi pellucidi (CSP).

The fetal larynx and pharynx: structure and development on two‐ and three‐dimensional ultrasound

To present a systematic approach for evaluating the fetal pharynx and larynx based on two‐ and three‐dimensional ultrasound (2D‐US and 3D‐US) modalities, describing the sonographic appearance and function of the fetal upper respiratory tract and measuring the anatomical components of the pharynx and larynx.

Evaluating Spatiotemporal Image Correlation Technology as a Tool for Training Nonexpert Sonographers to Perform Examinations of the Fetal Heart

We aimed to evaluate the use of spatiotemporal image correlation (STIC) as a tool for training nonexpert examiners to perform screening examinations of the fetal heart by acquiring and examining STIC volumes according to a standardized questionnaire based on the 5 transverse planes of the fetal heart.

Systematic examination of the fetal abdominal precordial veins: a cohort study

Examination of the fetal venous system is a necessary part of complete fetal organ scanning to confirm landmark anatomy, such as the ductus venosus and course of the umbilical veins, and, whenever cardiovascular anomalies are identified, to exclude associated anomalous development of the fetal veins. We aimed to develop a protocol for systematic examination of the fetal venous system during midtrimester targeted organ scanning.