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Biomedical subjects

J Sonek

Publications and source records attributed to J Sonek.

15 recordsLinked to original sources
PubMed2006

Cardiac axis in fetuses with abdominal wall defects.

OBJECTIVES: To investigate whether fetal cardiac axis is affected by the presence of an abdominal wall defect (AWD) independent of congenital heart disease (CHD). METHODS: Video ultrasound records from fetuses with AWDs identified from 1991-2004 were reviewed. Still images of the fetal cardiac four-chamber view were digitized and two independent examiners measured the cardiac axis. A cardiac axis of >65 degrees or <25 degrees was considered abnormal. Maternal charts were reviewed for fetal echocardiogram results and neonatal charts were reviewed for confirmation of CHD and type of AWD. RESULTS: Of 17 fetuses with omphalocele and 42 fetuses with gastroschisis, 16 (27%) fetuses had an abnormal cardiac axis, while only seven (12%) had CHD. Fifty-nine percent of fetuses with omphalocele had an abnormal cardiac axis and 35% had CHD. Fourteen percent of fetuses with gastroschisis had an abnormal cardiac axis and 2% had CHD. Of 43 fetuses with a normal cardiac axis, only one had CHD. CONCLUSIONS: Fetal cardiac axis is often affected by the presence of an AWD independent of CHD. A normal cardiac axis in fetuses with AWDs is an accurate predictor of the absence of CHD, the negative predictive value being 97.7%.

Abdominal Wall↗
PubMed2004

Maxillary length at 11-14 weeks of gestation in fetuses with trisomy 21.

OBJECTIVE: To determine the value of measuring maxillary length at 11-14 weeks of gestation in screening for trisomy 21. METHODS: In 970 fetuses ultrasound examination was carried out for measurement of crown-rump length (CRL), nuchal translucency and maxillary length, and to determine if the nasal bone was present or absent, immediately before chorionic villus sampling for karyotyping at 11-14 weeks of gestation. In 60 cases the maxillary length was measured twice by the same operator to calculate the intraobserver variation in measurements. RESULTS: The median gestation was 12 (range, 11-14) weeks. The maxilla was successfully examined in all cases. The mean difference between paired measurements of maxillary length was -0.012 mm and the 95% limits of agreement were -0.42 (95% CI, -0.47 to -0.37) to 0.40 (95% CI, 0.35 to 0.44) mm. The fetal karyotype was normal in 839 pregnancies and abnormal in 131, including 88 cases of trisomy 21. In the chromosomally normal group the maxillary length increased significantly with CRL from a mean of 4.8 mm at a CRL of 45 mm to 8.3 mm at a CRL of 84 mm. In the trisomy 21 fetuses the maxillary length was significantly shorter than normal by 0.7 mm and in the trisomy 21 fetuses with absent nasal bone the maxilla was shorter than in those with present nasal bone by 0.5 mm. In fetuses with other chromosomal defects there were no significant differences from normal in the maxillary length. CONCLUSION: At 11-14 weeks of gestation, maxillary length in trisomy 21 fetuses is significantly shorter than in normal fetuses.

Adolescent↗
PubMed2001

Absence of nasal bone in fetuses with trisomy 21 at 11-14 weeks of gestation: an observational study.

BACKGROUND: Prenatal diagnosis of trisomy 21 requires an invasive test in women regarded as being at high risk after screening. At present there are four screening tests, and for a 5% false-positive rate, the sensitivities are about 30% for maternal age alone, 60-70% for maternal age and second-trimester maternal serum biochemical testing, 75% for maternal age and first-trimester fetal nuchal translucency scanning, and 85% for maternal age with fetal nuchal translucency and maternal serum biochemistry at 11-14 weeks. In this study, we examined the possible improvement in screening for trisomy 21 by examining the fetal nasal bone with ultrasound at 11-14 weeks of gestation. METHODS: We did an ultrasound examination of the fetal profile in 701 fetuses at 11-14 weeks' gestation immediately before karyotyping for a possible chromosomal abnormality detected by maternal age and fetal nuchal translucency screening. The presence or absence of a nasal bone was noted. FINDINGS: The fetal profile was successfully examined in all cases. The nasal bone was absent in 43 of 59 (73%) trisomy 21 fetuses and in three of 603 (0.5%) chromosomally normal fetuses. The likelihood ratio for trisomy 21 was 146 (95% CI 50-434) for absent nasal bone and 0.27 (0.18-0.40) for present nasal bone. In screening for trisomy 21, by a combination of maternal age and fetal nuchal translucency, we estimated that inclusion of examination of the fetal profile for the presence or absence of nasal bone could increase the sensitivity to 85% and decrease the false-positive rate to about 1%. INTERPRETATION: In screening for trisomy 21, examination of the fetal nasal bone could result in major reduction in the need for invasive testing and a substantial increase in sensitivity.

Adolescent↗
PubMed1995

Femoral-facial syndrome--prenatal diagnosis--autosomal dominant inheritance.

Fetal micrognathia and short, bowed femora were found on a routine prenatal ultrasonogram. At birth, a cleft palate and the characteristic facial appearance confirmed the diagnosis of the femoral-facial syndrome. (The femoral-facial syndrome [McKusick 137840] was first delineated by Daentl et al. [1975: J Pediatr 86:197-211] and called the "femoral hypoplasia-unusual facies syndrome." We prefer the "femoral-facial syndrome" because it is shorter, more easily translated, and because the McKusick catalog is the most widely recognized standard of nomenclature.) A paternal great uncle, deceased at age 4 years, seems to have had the same condition.

Female↗
PubMed1995

Cervical competence as a continuum: a study of ultrasonographic cervical length and obstetric performance.

OBJECTIVE: Our purpose was to investigate the hypothesis that cervical competence is a continuum that is related to cervical length and is reflected by pregnancy history. STUDY DESIGN: A cross-sectional study was performed of cervical length measured by transvaginal ultrasonography in women with prior preterm delivery at < or = 26 weeks, 27 to 32 weeks, and 33 to 35 weeks compared with women with cervical incompetence and normal controls delivered at term. RESULTS: Transvaginal cervical length was measured during pregnancy in 32 subjects with cervical incompetence, 98 with previous preterm birth < or = 26 weeks, 98 with previous preterm birth at 27 to 32 weeks, 127 with previous preterm birth at 33 to 35 weeks, and 106 normal controls. The relationship between obstetric history and cervical length was evaluated by analysis of variance. The gestational age at the first preterm delivery was significantly correlated with cervical length in the current pregnancy at each gestational interval between 20 and 30 weeks in a continuous manner. CONCLUSION: Cervical competence is a continuous rather than categoric variable and is indicated indirectly by measurement of the length of the cervix.

Adult↗
PubMed1994

The role of cordocentesis in the diagnosis of fetal well-being.

One of the most important parameters that any antenatal testing technique is measured against is the fetal acid-base balance. Cordocentesis is a relatively safe invasive method that can be used to evaluate the fetal acid-base status directly. The knowledge of these parameters is always invaluable under research conditions and, in select instances, can contribute significantly to clinical management.

Acid-Base Imbalance↗
PubMed1991

Morphologic changes in the human amnion epithelium that accompany labor as seen with scanning and transmission electron microscopy.

Scanning and transmission electron microscopy were used to assess the influence of normal, active labor on the ultrastructure of the human amnion epithelial membrane. Amnion membranes (reflected and placental portions) were obtained from patients either in active labor who were delivered vaginally or by cesarean section after 6 to 12 hours of labor or from patients who underwent elective cesarean section before clinical signs of overt labor. Scanning electron microscopy revealed that reflected amnion membranes that were obtained from patients who were not in labor consisted of a uniform single layer of epithelial cells with numerous microvilli on the apical surface and closely associated cellular borders. In contrast, amnion membranes that were obtained from patients who were in labor consisted of a single layer of epithelial cells, which was interrupted by wide intercellular gaps and extracellular extrusions. Transmission electron microscopy showed that intercellular junctions tended to be less complex in patients who were in labor versus patients who were not in labor. Although lipid droplets were prevalent in both patient groups, specimens that were obtained from patients who were in labor had more lipid droplets per cell than specimens from patients who were not in labor. These results support the theory that the complex biochemical events that culminate in parturition are accompanied and/or preceded by demonstrable morphologic changes in the amnion membrane.

Amnion↗
PubMed1991

Sonographic measurement of fetal humeral soft tissue thickness in pregnancy complicated by GDM.

Sonographic measurement of fetal humeral soft tissue thickness (STT) was performed in 93 women with gestational diabetes mellitus during the third trimester. STT measurements revealed accelerated growth in large for gestational age infants at 31 wk gestation. This new measurement proved to be the most accurate predictor of excessive fetal size compared with other standard ultrasound parameters (sensitivity 82%, specificity 95%, positive predictive value 90%). Asymmetrical growth was more evident in infants with large STT measurements in utero. Humeral STT measurement may distinguish large fetuses with truncal obesity from those that are symmetrically large, thereby allowing prediction of risk for birth trauma before delivery.

Diabetes, Gestational↗
PubMed1991

Development and initial experience with a manually controlled spring wire device ("Cordostat") to aid in difficult funipuncture.

Funipuncture has evolved as a useful tool in prenatal diagnosis and treatment. The ease with which it can be performed depends on placental implantation site, amniotic fluid volume, fetal presentation and activity, gestational age, and operator experience. Under select circumstances, such as hydramnios, oligohydramnios/anhydramnios, a back-up fetus/posterior placenta, or gestation of fewer than 20 weeks, funipuncture can be difficult or impossible. We have developed a new instrument, the "Cordostat," which can help the operator perform difficult funipuncture by providing stabilization and allowing intrauterine manipulation of the umbilical cord. The instrument consists of a deflecting wire guide threaded through a 19.5-guage trochar needle, which can be manually controlled to coil around and stabilize a free loop of cord. Conventional funipuncture can then be performed through a second uterine puncture. We describe use of this instrument in 12 patients undergoing second-trimester induced abortion.

Blood Specimen Collection↗
PubMed1990

Evidence of a role for protein kinase C in epidermal growth factor-induced prostaglandin E2 synthesis in amnion cells.

Human amnion cells synthesize and release prostaglandin E2 in response to epidermal growth factor. The protein kinase C activator, phorbol 12-myristate, 13-acetate also stimulates amnion cell prostaglandin E2 synthesis. We used a human amnion cell line (WISH) to conduct in vitro experiments to investigate a potential role of protein kinase C in the signal transduction pathway leading to epidermal growth factor-induced prostaglandin E2 production. Pretreatment of cultured amnion cells with a low, nonstimulating dose of phorbol 12-myristate, 13-acetate potentiated the action of epidermal growth factor in causing prostaglandin E2 production as measured by radioimmunoassay. The protein kinase C-selective inhibitor staurosporine inhibited epidermal growth factor-induced prostaglandin E2 production, further suggesting a role for protein kinase C in epidermal growth factor action. Experiments were conducted in which amnion cells were rendered protein kinase C-deficient by chronic exposure to phorbol ester, which has been shown to down-regulate the enzyme. In these cells, epidermal growth factor caused prostaglandin E2 synthesis at levels comparable to native (non-protein kinase C-deficient) cells. We conclude that protein kinase C plays a more modulatory than direct role in the epidermal growth factor signal transduction cascade that leads to prostaglandin E2 production by amnion cells. We propose a bifurcating transduction scheme in which, under conditions of protein kinase C inactivation, epidermal growth factor alone causes prostaglandin E2 synthesis. When protein kinase C is activated by as yet unknown endogenous substances, the epidermal growth factor responsiveness of the amnion cells is greatly enhanced. This pathway could have important implications in a feed-forward mechanism regulating the level of prostaglandin E2 production during the onset of labor.

Alkaloids↗
PubMed1989

Articulated needle guide: report on the first 30 cases.

This report represents our initial experience with a new type of needle guide for amniocentesis, transabdominal chorionic villus biopsies, and funipuncture developed at the Ohio State University and tested at the Harris Birthright Centre for Fetal Medicine. This articulated needle guide is designed to combine the advantages of the existing needle guides and the freehand technique. The needle guide offers improved maneuverability compared with standard needle guides and maintains easy visualization of the needle.

Amniocentesis↗