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Biomedical subjects

S Rotmensch

Publications and source records attributed to S Rotmensch.

At least 37 records · Page 2Linked to original sources
PubMed1997

Fetal transcerebellar diameter in Down syndrome.

OBJECTIVE: To determine whether cerebellar hypoplasia in Down syndrome is established and clinically recognizable in the second trimester of pregnancy and to evaluate the screening utility of transverse cerebellar diameter measurements for Down syndrome fetuses. METHODS: Ultrasonographic biometry data obtained before genetic amniocenteses on 42 fetuses with Down syndrome and 1161 karyotypically normal fetuses were analyzed. Mean transverse cerebellar diameters stratified by gestational age were compared. A regression equation relating transverse cerebellar diameters to gestational age was calculated for 387 normal fetuses and applied to the remaining normal (n = 774) and all Down syndrome fetuses. Ratios of observed to expected cerebellar diameters were calculated. Sensitivity, specificity, and positive predictive values were calculated for various cutoff points and Down syndrome prevalences. RESULTS: Cerebellar diameters in Down syndrome fetuses were smaller than in normal controls at all gestational ages (P < .005) by an average of 0.67-0.87 mm. A ratio of 0.92 for observed/expected cerebellar diameters yielded a sensitivity of 21%, specificity of 95%, and positive predictive values of 1.66% and 0.56% in populations with a risk for Down syndrome of one in 250 and one in 750, respectively. CONCLUSIONS: Cerebellar hypoplasia is developmentally established and sonographically recognizable in second-trimester Down syndrome fetuses. However, cerebellar size differences between normal and Down syndrome fetuses are too small to be clinically useful.

Anthropometry↗
PubMed1997

Uterine artery Doppler velocimetry in pregnant women with lateral placentas.

The aim of this study was to compare the efficacy of placental, non-placental, mean of both uterine arteries Doppler velocimetry at 22-24 weeks gestation in the prediction of pregnancy induced hypertension (PIH) and intrauterine growth retardation (IUGR). Flow velocity waveforms were obtained by means of color and pulsed Doppler in 481 patients with lateral placentas at 22-24 weeks gestation. Placental location was determined by real time ultrasonography. Comparisons were performed between controls and pregnancies complicated by PIH and IUGR. Sensitivities, false positive rates and positive predictive values for PIH and IUGR of resistance indices (RI) above the 90th percentile, and diastolic notches in placental, non-placental or both uterine arteries were calculated. A mean uterine artery RI > or = 0.66 (90th centile) had better sensitivity than the placental (26.8% vs 17.1% for IUGR and 41.7% vs 33.3% for PIH) and the non-placental uterine artery (26.8% vs 21.9% for IUGR and 41.7% vs 33.3% for PIH). The presence of a diastolic notch in the placental uterine artery increased sensitivity (31.7% for IUGR and 50.0% for PIH) and positive predictive value of the test. In patients with laterally implanted placentas a mean of both uterine arteries RI above the 90th centile and the presence of a diastolic notch in the placental uterine artery at 22-24 weeks have a higher predictive value for the subsequent development of PIH and IUGR than the separate evaluation of the 2 uterine arteries.

Arteries↗
PubMed1997

Cardiotocographic and Doppler velocimetric patterns, pre- and post-thoracentesis, in a case of fetal hydrothorax.

Fetal hydrothorax is associated with elevated perinatal mortality. Management of this condition is controversial given that in utero spontaneous resolution has been described. A case of fetal hydrothorax associated with an extralobar lung sequestration that showed pathologic cardiotocographic patterns and abnormal Doppler velocimetry indices in several fetal vascular beds in reported. All pathologic patterns improved after fetal thoracentesis. It can be concluded that monitoring fetal well-being by means of cardiotocography and Doppler velocimetry may help in timing thoracentesis in cases of fetal hydrothorax.

Adult↗
PubMed1996

Nicked free beta-subunit of human chorionic gonadotropin: a potential new marker for Down syndrome screening.

OBJECTIVE: Our purpose was to investigate maternal serum levels of nicked free beta-subunit in normal and Down syndrome pregnancies. STUDY DESIGN: Serum specimens were obtained from 64 karyotypically normal and 6 Down syndrome pregnancies before amniocentesis. Two immunoenzymometric assays for the beta- subunit of human chorionic gonadotropin were used to determine the level of free beta-subunits with peptide linkage breaks ("nicks") between residues 43 to 48. RESULTS: The mean level of nicked free beta-subunit in Down syndrome was 4.76 multiples of the median, which was significantly elevated compared with normal controls (1.07 multiples of the median, p<0.05). In 5 of 6 cases levels were > or = 2 multiples of the median, with a range of 1.96 to 15.43 multiples of the median, which was 2- to 3-fold higher than the regular free beta-subunit assay (mean level 1.53 multiples of the median, range 0.70 to 3.10 multiples of the median). In one case no nicked free-beta subunits were detectable. CONCLUSION: Our preliminary data indicate that nicked free beta-subunit of human chorionic gonadotropin might be a sensitive marker for Down syndrome screening.

Biomarkers↗
PubMed1996

Doppler velocimetry of the uterine and fetal circulations during prostaglandin E2 cervical ripening.

The objective of the study was to investigate flow characteristics of the maternal uterine and fetal umbilical and middle cerebral arteries following intracervical administration of prostaglandin E2 (PGE2). Doppler velocimetry of uterine, umbilical and middle cerebral arteries was performed immediately before and 2 h after PGE2 administration in 28 women with uncomplicated post-term pregnancy and an unfavorable cervix. Placental position was determined in all cases. When all patients were considered jointly, regardless of placental position, the mean uterine artery resistance index (RI) values were 0.41 +/- 0.07 before and 0.48 +/- 0.13 2 h after PGE2 administration (p < 0.05). When patients with lateral placentas (n = 20) were analyzed separately, only the non-placental uterine artery showed a significant increase 2 h after PGE2 administration, whereas no significant differences were found in the placental uterine artery. No changes were observed in uterine RI values of patients with central placentas. No significant differences were observed for umbilical artery and middle cerebral artery before and after PGE2 administration. It is concluded that intracervical PGE2 administration increases uteroplacental resistance but probably does not substantially affect placental perfusion; that the umbilical circulation is not affected; and that there were no signs of redistribution of fetal blood flow.

Adult↗
PubMed1994

Color Doppler flow patterns and flow velocity waveforms of the intraplacental fetal circulation in growth-retarded fetuses.

OBJECTIVE: We examined intraplacental color Doppler flow patterns and spectral Doppler flow velocity waveforms of villous arteries in pregnancies with intrauterine growth retardation. STUDY DESIGN: A total of 192 uncomplicated pregnancies and 29 pregnancies with intrauterine growth retardation between 26 and 41 weeks' gestation were examined in this cross-sectional study. Intraplacental color Doppler flow findings and pulsatility indexes of umbilical and villous arteries were correlated with the presence of intrauterine growth retardation and multiple outcome variables. Villous arteries were identified by their intraplacental color Doppler flow image, and flow velocity waveforms were obtained by superimposition of pulse-wave Doppler. RESULTS: (1) Intraplacental color Doppler flow signals from two or more villous arteries were detected in all 192 normal pregnancies but were undetectable in 8 of 29 fetuses with intrauterine growth retardation (27.6%, p < 0.0001). Absence of intraplacental color Doppler flow signals was associated with fetal distress in 6 of 8 cases (87.5%) and perinatal death in two cases (25.0%), compared with 3 of 21 (14.2%, p < 0.005) and 0 of 21 (not significant) cases of intrauterine growth retardation with detectable intraplacental color Doppler flow. Median Apgar scores at 1 minute were 5 and 8 (p < 0.05), respectively, and at 5 minutes were 8 and 8 (not significant), respectively. (2) Umbilical artery flow velocity waveforms were abnormal (> 95th percentile) in 8 of 21 cases of intrauterine growth retardation (38.0%) with detectable intraplacental color Doppler flow, including two cases with reversed end-diastolic flow. In contrast, the corresponding villous artery flow velocity waveforms were abnormal in only 1 of 21 cases (p < 0.04). CONCLUSION: (1) Failure to detect intraplacental color Doppler flow signals is associated with intrauterine growth retardation and fetal distress. (2) Flow velocity waveforms of detectable villous arteries are usually normal in intrauterine growth retardation, even in the presence of extremely abnormal umbilical artery flow velocity waveforms.

Blood Circulation↗
PubMed1994

Doppler velocimetry of maternal renal interlobar arteries in pregnancy-induced hypertension.

OBJECTIVES: To evaluate whether Doppler velocimetry of maternal renal interlobar arteries is altered in patients with hypertensive disorders of pregnancy (PIH). METHODS: Flow velocity waveforms (FVWs) were obtained, by means of color and pulsed Doppler ultrasound, from the renal artery and two interlobar arteries in the right kidney of 46 normal pregnant women and 10 patients with PIH between 20 and 39 weeks' gestation. Statistical analyses of resistance indices (RI) were performed by regression analysis, paired and unpaired t-tests. RESULTS: RI values of renal and interlobar arteries in normal patients did not change significantly with gestational age. Interlobar arteries had significantly lower RI values than corresponding main renal arteries (T = 3.88, P < 0.001). No significant differences in FVWs of renal (T = 1.86, P = 0.068) and interlobar arteries (T = 0.85, P = 0.399) were found between normal and hypertensive patients. A statistical power analysis confirmed that our sample size was sufficient to detect a difference in RI of 0.10, with alpha = 0.05 and beta = 0.80. CONCLUSIONS: FVWs of the renal and interlobar arteries are not altered in patients with mild PIH.

Blood Flow Velocity↗
PubMed1993

Vasa previa: prenatal diagnosis with transvaginal color Doppler flow imaging.

Vasa previa carries a significant risk for fetal exsanguination and death at the time of membrane rupture. The diagnosis is rarely made before the onset of vaginal bleeding. We report the prenatal diagnosis of vasa previa with transvaginal color Doppler flow imaging in an asymptomatic patient with a succenturiate placenta.

Adult↗
PubMed1993

Gaining access to the embryonic-fetal circulation via first-trimester endoscopy: a step into the future.

OBJECTIVE: To assess the feasibility of gaining access to the embryonic-fetal circulation via first-trimester transcervical embryoscopy. METHODS: A fiberoptic endoscope with a 3.5-mm, wide-angle lens was passed transcervically through the chorion and into the exocoelomic cavity of women undergoing pregnancy termination. A 26-gauge heparinized needle was passed through the sideport of the endoscope and inserted into the blood vessels of the chorionic plate or umbilical cord to obtain blood samples. RESULTS: With a modified endoscope, we have been able to gain access into the embryonic-fetal circulation and obtain a small aliquot of blood in five of eight cases. CONCLUSIONS: Our experience establishes the feasibility of gaining access to the human embryonic-fetal circulation. This work is expected to serve as a basis for further studies of the diagnosis and treatment of congenital diseases in early pregnancy.

Cordocentesis↗
PubMed1992

Atelosteogenesis type II: sonographic and radiological correlation.

Atelosteogenesis type II is a lethal chondrodysplasia characterized by severe micromelia, spinal abnormalities, talipes equinovarus, and abducted thumbs and toes. We present a case diagnosed at 21 weeks of gestation in which antenatal sonographic and post-mortem radiological findings were correlated. The patient had a recurrence of this disorder in a subsequent pregnancy which was terminated at 15 weeks, supporting previous reports of an autosomal recessive inheritance pattern. The feasibility of diagnosing the following morphological features by prenatal ultrasonography is demonstrated: coronal clefts of the vertebral bodies, metaphyseal and epiphyseal abnormalities, spinal deviations such as cervical kyphosis and a horizontal sacrum, additional ossification centres in the pelvis, and preaxial deviation of the thumbs and toes. The differential diagnosis of this disorder from other skeletal dysplasias with similar features is discussed.

Abnormalities, Multiple↗
PubMed1992

Embryoscopy: a closer look at first-trimester diagnosis and treatment.

Advancing technology has made the fetus and its environment even more accessible to prenatal diagnosis and treatment. The current approach to prenatal diagnosis relies mainly on the use of high-resolution ultrasonography. However, as attempts are made to conduct antenatal diagnoses earlier in gestation, the limits of ultrasonography are approached. Embryoscopy allows for direct visualization of the first-trimester fetus with a fiberoptic endoscope. A customized side channel enables the operator to pass a variety of diagnostic tools and gain access into the fetal circulation. The further development and refinement of this technology are expected to change early prenatal diagnosis and treatment considerably. The potential contribution of this technique to perinatal medicine is readily apparent when it is placed in historic context. Undoubtedly, many ethical, legal, and regulatory questions will have to be addressed before the full potential of embryoscopy is realized. The responsibility for the judicious use of this powerful technology for prenatal intervention will have to be shared by the scientific community and a well-informed public.

Endoscopes↗
PubMed1992

Fetal humeral length to detect Down syndrome.

OBJECTIVE: Our aim was to evaluate the utility of ultrasonographic humeral length measurements for detection of fetuses with Down syndrome in the midtrimester of gestation. STUDY DESIGN: Ultrasonographic biometry data obtained before genetic amniocenteses on 43 fetuses with Down syndrome and 204 randomly chosen normal fetuses were analyzed. Regression equations relating biparietal diameter to humeral length and femoral length were used to calculate ratios of observed-to-expected length and sensitivity and specificity at various cutoff points. RESULTS: Humeral length in Down syndrome fetuses was significantly shorter than in normal controls (p less than 0.001). A ratio of 0.90 for observed/expected humeral length yielded a sensitivity of 28%, a specificity of 91%, and positive predictive values of 1.23% and 0.41% in populations at risk for Down syndrome of 1 in 250 and 1 in 750, respectively. The equivalent ratio for femoral length yielded a sensitivity of 19%, a specificity of 91%, and positive predictive values of 0.87% and 0.28% for baseline risks of 1 in 250 and 1 in 750, respectively. CONCLUSIONS: The sensitivity of fetal humeral length measurements for Down syndrome detection in our hands was remarkably lower than previously reported. Independence of this parameter from currently used serum screening markers has not been established; therefore implementation in screening programs is not advisable at this point.

Down Syndrome↗
PubMed1992

Bilateral choroid plexus cysts in trisomy 21.

Whether karyotyping is indicated in a fetus with choroid plexus cysts who is otherwise structurally normal is still controversial. Many authors have suggested basing the decision on cyst size, bilaterality, persistence with advancing gestational age, and association with other anomalies. We report a case of large bilateral choroid plexus cysts in a fetus with trisomy 21 who had no evidence of congenital anomalies or ultrasonographic signs of Down syndrome. Cyst sizes diminished by half over a 3-week period of follow-up. It appears that diminishing size alone should not be considered sufficient reassurance about the normality of the fetal karyotype. A similar case has been previously reported, and it is conceivable that choroid plexus cysts are associated not only with trisomy 18 but also with trisomy 21.

Adult↗
PubMed1992

Monitoring of intravascular fetal transfusions with Doppler velocimetry.

Intravascular fetal transfusions are occasionally complicated by extravascular deposition of transfused blood or by fetal bradycardia on penetration of the needle into the umbilical cord. It is desirable therefore to continuously monitor the intravascular location of the needle and the fetal heart rate. This can be achieved by Doppler velocimetry of the umbilical vein and artery during the procedure. The technique is easily performed, does not require moving of the ultrasonography transducer, and appears to be time efficient.

Blood Transfusion, Intrauterine↗
PubMed1991

The role of von Willebrand factor in pre-eclampsia.

The von Willebrand factor (vWF) has gained considerable interest in recent years as a marker of endothelial cell activation or insult and by virtue of its interactions with platelets and vessel walls. Altered patterns of vWF multimers were found to occur frequently in patients with thrombotic thrombocytopenic purpura in the acute and chronic stages. This disorder shares some clinical and laboratory findings with pre-eclampsia, including thrombocytopenia. Recent studies have also suggested that abnormalities of endothelial cell metabolism play a central role in the pathophysiology of pre-eclampsia. In order to determine if vWF could be instrumental in the disease process and the thrombocytopenia of pre-eclampsia we analyzed the ante- and postpartum structural and functional distribution of vWF. This data was correlated with hematological parameters such as platelet counts and the clinical severity of the disease. We found no consistent changes of vWF in association with thrombocytopenia or clinical severity. However, functional vWF was lower in postpartum samples of severely affected pre-eclamptics as compared to normal controls. This finding may reflect endothelial cell exhaustion after stimulation or cellular injury. Elevated titers of fibrin split products and thrombocytopenia were evident in severe pre-eclampsia, as seen in DIC, despite factor VIII coagulant levels within the normal range. Our data is consistent with the hypothesis of endothelial cell dysfunction in pre-eclampsia. However, the mechanism of thrombocytopenia in this disorder does not appear to be related to alterations in the structure or biological function of vWF.

Adult↗
PubMed1991

Prenatal diagnosis of a fetus with terminal deletion of chromosome 1 (q41)

Many authors have suggested that individuals affected by a terminal 1q deletion display a phenotypically definable and recognizable syndrome. In all of the 27 cases reported to date, the breakpoints were at band q42 or distally to it. To our knowledge, we report the first case of a terminal 1q41 deletion. Diagnosis was made prenatally by amniocentesis, following ultrasonographic diagnosis of omphalocele, cerebral ventriculomegaly, and increased nuchal fold thickness in a 19-week female fetus. Multiple facial and extremity features were consistent with the proposed distal 1q deletion syndrome; omphalocele, however, has not been reported previously. The absence of liver herniation into the omphalocele sac in this case supports the previously reported association of this finding with chromosomal anomalies.

Abnormalities, Multiple↗