bluuebunny/crossref_metadata_2025 huggingface dataset:
Prenatal Diagnosis of a Lethal Multiple Pterygium Syndrome Type II
Authors: Entezami Michael , Runkel Sanyukta , Kunze Juergen , Weitzel Hans Karl , Becker Rolf
Published: April 2003

Advances in ultrasound technology and sonographer’s experience lead to the description of many rare syndromes and malformations through prenatal diagnosis. Diaphragmatic hernia is a rather common malformation but can be an indicator of different syndromes. We report the prenatal diagnosis of lethal multiple pterygium syndrome type II which has been established in the 34th week of pregnancy. The sonographically detectable symptoms consisted of polyhydramnios, hygroma colli, diaphragmatic hernia, scoliosis, short forearms, hypokinesia of the fetus and pterygia over the large joints. Labour was induced in the 34th week of pregnancy; the neonate died shortly after vaginal delivery as a result of the pulmonary hypoplasia. A multidisciplinary approach in prenatal assessment may help to clarify difficult diagnostic problems and may be of direct benefit for the pregnant patient.
Outcome of 116 Moderate Renal Pelvis Dilatations at Prenatal Ultrasonography
Authors: Lepercq Jacques , Beaudoin Sylvie , Bargy Frédéric
Published: April 2003

To determine the incidence of urinary tract abnormalities detected in the presence of moderate fetal renal pelvis dilatation, we followed up pre- and postnatally 116 fetuses and children between 1985 and 1995. At prenatal ultrasound, 50 (43%) fetuses showed regressive dilatations, 57 (49%) a stable pattern, and 9 (8%) an evolutive pattern. In the presence of an evolutive dilatation, urinary tract obstruction was present in 8 cases. When a stable pattern was observed, i.e., a patent uropathy was present, surgical correction was performed in 27 of 53 (51%) cases. Regarding the postnatal evolution of 50 prenatal regressive moderate dilatations, we observed in 12 of 50 (24%) vesicoureteric reflux, of which 5 (10%) required surgical correction, and it is concluded that careful and extensive follow-up is mandatory.
A Simple Method to Estimate Volume for Fetal Intravascular Transfusions
Authors: Giannina Gregg , Moise Jr. Kenneth J. , Dorman Karen
Published: April 2003

We derived a constant termed the transfusion coefficient to simplify the estimation of the fetal intravascular transfusion volume. The product of the estimated fetal weight (g) and 0.02 (transfusion coefficient), estimates the transfusion volume (ml) required to increase the fetal hematocrit by approximately 10 percentage points. Our estimation was comparable to Mandelbrot’s technique and better than Plecas’ method for estimating fetal transfusion volumes. Utilizing the transfusion coefficient to estimate the intravascular transfusion volume for an anemic fetus is simple, rapid and accurate.
Fetal Bladder Catheterization in Severe Obstructive Uropathy before the 24th Week of Pregnancy
Authors: Szaflik K. , Kozarzewski M. , Adamczewski D.
Published: April 2003

Objective: Fetal obstructive uropathy is simple to diagnose before the 24th week of life. Drainage of the pathologically enlarged fetal bladder avoids development of hydronephrosis and destruction of kidneys and, obviously, prevents development of secondary oligohydramnios and pulmonary hypoplasia. The aim of our study was to evaluate the usefulness of a fetal bladder shunt in cases of obstructive uropathy before the 24th week of gestation. Methods: From January 1997 we diagnosed 6 cases of fetal obstructive uropathy before the 24th week of gestation. In all cases oligohydramnios or ahydramnios was also observed. After evaluation of the renal function on the basis of fetal urine samples, we shunted 5 fetuses. After routine preparation of the operative field, a special puncture needle was inserted through the abdominal wall of mother and fetus into the fetal bladder. Through the needle a fetal bladder catheter was inserted between the fetal bladder and the amniotic sac. After shunt placement, fetal urine fills the amniotic sac and the fetal bladder is decompressed. After the procedure, the patients were hospitalized and serial sonographic examinations were performed to evaluate shunt function. Bladder size, presence and size of hydronephrosis, and volume of amniotic fluid were evaluated. Results: The Rocket Medical catheters have an excellent ‘shape memory’. All but 1 newborns had a good perinatal outcome. Mean Apgar score was 8 at 1 min, weight at delivery was between 1,700 and 3,100 g. No pulmonary hypoplasia was observed. All deliveries were after the 33rd week of gestation (range 33–38 weeks). The minimum drainage time was11 weeks, maximum 18 weeks. In 2 cases premature delivery occurred because of premature rupture of the membranes. One newborn died of respiratory distress syndrome. Conclusions: Early bladder drainage (before the 24th week of gestation) enables delivery of newborns with a good perinatal outcome, without pulmonary hypoplasia. This method of therapy limits renal damage and allows time for normal development of the fetal lungs.
Treatment of Twin-Twin Transfusion Syndrome by Laser and Digoxin
Authors: Arabin Birgit , Laurini Ricardo Noberto , van Eyck Jim , Nicolaides Kypros H.
Published: April 2003

Objectives: A combination of surgical and medical approaches may address both the underlying pathophysiological processes and the most threatening symptoms in twin-twin transfusion syndrome (TTTS). Case: A primigravida with monochorionic twin pregnancy was referred with signs of TTTS at 16 weeks. One twin was severely hydropic with normal amniotic fluid, the co-twin had anhydramnios. Laser treatment was performed. Nevertheless, signs of severe cardiac decompensation in the recipient remained unchanged. After treatment with digoxin restoration of congestive heart failure and a resolution of the hydrops were achieved. Activity and inter-twin contacts increased significantly. At 37 weeks 2 healthy boys were delivered. Postnatal computerangiography of the placenta revealed no arteriovenous anastomoses. Conclusions: This case suggests that a combined causal and symptomatic therapy in cases with cardiac decompensation of the recipient can be beneficial as demonstrated by echocardiography, venous Doppler and behavioral analysis. Computer angiography of the placenta may demonstrate the effect of laser treatment.
Antenatal Ultrasonographic Development of Ureteroceles
Authors: Kang Audrey H. , Bruner Joseph P.
Published: April 2003

Ureteroceles associated with a duplex collecting system may lead to obstructive uropathy, the most common genitourinary anomaly of the fetus. Although most frequently presenting as hydronephrosis, damage from obstruction is a progressive process which may even develop into bilateral renal dysfunction. Antenatal intervention for preservation of fetal renal function may be considered, but must be balanced against procedural risks. Therefore, accurate documentation of the progression may be necessary. In these cases, the development of the classic findings of two ureteroceles are documented over a period of several weeks using serial ultrasonographic evaluation. Postnatal evaluation of the infants confirmed the antenatal findings. The importance of serial ultrasonographic evaluation of fetal obstructive uropathies is dramatically illustrated.
Posterior Urethral Valves: Inaccuracy of Prenatal Diagnosis
Authors: Abbott Jodi F. , Levine Deborah , Wapner Ronald
Published: April 2003

This study was undertaken to determine the specificity of prenatal diagnosis of posterior urethral valves. Twenty-two fetuses were diagnosed in utero with posterior urethral valves due to the presence of persistent megacystis and hydronephrosis. Ten cases had oligohydramnios and 12 had normal or increased fluid. Confirmation of diagnosis was not available in 3 fetuses. Only 8 of 19 fetuses had postnatal confirmation of posterior urethral valves. Other anomalies included urethral atresia, ureteral duplication, megacystis/megaureter, reflux and multicystic dysplastic kidney. We conclude that in utero evidence of megacystis and hydronephrosis with or without oligohydramnios is not diagnostic of posterior urethral valves.
Congenital Rapidly Fatal Form of Nemaline Myopathy with Fetal Hydrops and Arthrogryposis
Authors: Vardon D. , Chau C. , Sigodi S. , Figarella-Branger D. , Boubli L.
Published: April 2003

A new lethal case of nemaline myopathy is reported. The diagnosis was made by postmortem muscle biopsy. The child died before his first day of life. This is one of the very rare cases of nemaline myopathy with severe antenatal ultrasonographic signs: fetal hydrops and arthrogryposis. In a review of the literature other cases of the congenital rapidly fatal form are found, some of them with clinical decrease of fetal movements but only few authors report ultrasonographic signs. The diagnostic, histopathogenic, genetic and evolutive aspects of this heterogeneous disorder are analyzed. This congenital nonprogressive myopathy is not as benign as previously thought and may be an etiology of the lethal form of arthrogryposis multiplex congenita. The existence of ultrasonographic antenatal signs seems to be a factor of poor prognosis. In spite of recent genetic discoveries, there is at present no specific antenatal diagnosis. Consequently, muscle biopsy in lethal cases is very important to allow a genetic counselling; however, in utero fetal biopsy has never been performed in such cases.
Rapid Prenatal Diagnosis of Trisomy 21 by Polymerase Chain Reaction- Associated Analysis of Small Tandem Repeats and S100B in Chromosome 21
Authors: Yang Young Ho , Kim In Kyu , Oh Sang Hwan , Kim Chang Kyu , Kim Jin Yeong
Published: April 2003

Objectives: The incidence of Down syndrome increases with maternal age and a rapid and accurate method for prenatal diagnosis is a necessity. This study was devised to evaluate and compare the methods for detecting trisomy 21 by polymerase chain reaction (PCR)-associated analysis of small tandem repeats (STR) of D21S11 and semiquantitative analysis of S100B of chromosome 21. Methods: PCR was performed with DNA template obtained from 20 normal samples (10 blood, 10 amniotic fluid) and 12 Down sydrome samples (10 blood, 2 amniotic fluid). 32P-labelled primers for D21S11 and S100B were used. PCR products for D21S11 were subjected to polyacrylamide urea gel (6%) electrophoresis, followed by exposure to X-ray film, and then the densities of signals were recorded by densitometer. PCR products for S100B and insulin-like growth factor-I (IGF-I) as an internal control were subjected to agarose gel (2%) electrophoresis and the relative amounts of radioactivity in their products were measured to assess the quantitation of template DNA. Results: Analysis of D21S11 STR showed equivalent triplets in 4 cases and unequivalent doublets (1:2) in 8 Down syndrome samples. The normal control group showed singlets in 5 cases and equivalent doublets in 15 cases. In the analysis of S100B, the ratios of S100B to IGF-I was 1.4–1.6 in 7 of 12 Down syndrome samples, while the ratios of S100B in all normal samples were close to 1.0. All the results were obtained within 24 h. The D21S11 STR analysis managed to distinguish more clearly between normal and trisomy 21, while semiquantitative PCR analysis of S100B was less able to assess trisomy 21. Conclusion: Prenatal diagnosis of trisomy 21 by PCR-associated STR analysis of D21S11 and semiquantitative analysis of S100B are useful, innovative, accurate and rapid diagnostic methods, while D21S11 STR analysis is more discriminating in detecting trisomy 21 and also may be employed in preimplantation diagnosis of Down syndrome.
Variability of Adjustments to Indices in Determining Patient Risk in Biochemical Screening
Authors: Brooks Kathryn , Chik Lawrence , O’Brien JosephE. , Ayoub Mazin , Johnson MarkPaul , Evans MarkI.
Published: April 2003

It has long been appreciated that the measurement of biochemical parameters for prenatal screening for neural tube defects, and later aneuploidy, is not as simple as measuring hemoglobin or hematocrit. Early in the game, it was recognized that there are gestational age curves, and that since α-fetoprotein (AFP), for example, is a fetal product, its distribution varies as a function of maternal plasma volume, and therefore the weight of the mother. A number of different adjustment factors have been used for AFP and other parameters for years, with varying degrees of consistency and reliability. Here we review a number of adjustments that have been used, and try to give priority to those that have been most effective. Furthermore, laboratories and programs need to be cognizant that with newer parameters being added, the specifics of requirements will vary on a case-by-case parameter basis, and optimal screening can only be achieved with the appropriate adjustments.
Ontogeny of Clenched-Hand Development in Trisomy 18 Fetuses: A Serial Transabdominal Fetoscopic Observation
Authors: Quintero Rubén A. , Johnson Mark P. , Mendoza Gustavo , Evans Mark I.
Published: April 2003

Malpositioning of the fingers is a characteristic anomaly in fetuses with trisomy 18. The defect results in part from muscle variations along the radial margin of forearm and hand, absence of the thenar muscles, anomalous tendons and attachments among the forearm groups, and fusions among the arm flexor group. These variations result in radial or ulnar displacement of the tendons of extensor digitorum and digiti minimi, with overlapping of the fourth and fifth fingers radially and second finger in an ulnar direction. The ontogeny of these changes is unknown. We performed serial transabdominal thin-gauge fetoscopy in a patient with increased nuchal thickening at 12 weeks of pregnancy at the time of genetic testing and again at 14 weeks at the time of termination of pregnancy. Changes in the positioning of the fingers were not apparent at 12 weeks, but were evident at 14 weeks. The findings were beyond the resolution of ultrasound. We conclude that malpositioning of the fingers in trisomy 18 occurs some time between 12 and 14 weeks of gestation. Noninvasive confirmation of these findings may be possible with new and improved ultrasound imaging capabilities or perhaps with three-dimensional ultrasound.
Alteration in the Low-Frequency Domain in Power Spectral Analysisof Fetal Heart Beat Fluctuations
Authors: Ohta Tsukasa , Okamura Kunihiro , Kimura Yoshitaka , Suzuki Toshiaki , Watanabe Takanori , Yasui Tomoharu , Yaegashi Nobuo , Yajima Akira
Published: April 2003

Objective: Spectral analysis was conducted on fetal heart rate fluctuations for the purpose of investigating the change in gestational age and examining the usefulness as a method of estimating fetal blood gas. Study Design: Five hundred and twenty-nine pregnant women with a single normal fetus and 26 women with intrauterine growth restriction (IUGR) were studied during the 20th to 38th gestational weeks. In cases of IUGR, fetal blood gas levels were evaluated with percutaneous umbilical blood sampling. A time series of fetal heart rate fluctuation was obtained with a 1.15-MHz ultrasonic transducer, and power spectral analysis of 200 consecutive stable beats was performed with an autoregression method. Integrated areas of 0.025–0.125 cycles/beat were defined as low-frequency areas (LFAs) and were examined in normal fetuses. In addition, the relation between LFA and fetal blood gas values was studied. Results: As pregnancy progressed, LFA increased with a cubic regression equation (Y = 6.484 – 0.764X + 0.029X2 – 0.00034X3). The correlation coefficient was 0.625 (p < 0.05). In the cases of IUGR, ΔLFA was highly correlated with ΔpO2 and ΔpH (correlation coefficient, 0.650 and 0.618, respectively). Conclusions: Measurement of LFA provides insight into the development of fetal autonomic function and also may serve as a quantitative index of fetal well-being in mid-pregnancy.
Fetoscopy in the Pregnant Rabbit at Midgestation
Authors: Papadopulos Nikolaos A. , Dumitrascu Irina , Ordoñez Jose L. , Decaluwé Herbert , Lerut Toni E. , Barki Gerard , Deprest Jan A.
Published: April 2003

Objective: To develop a small animal model for fetoscopy. Methods: In 12 time-dated pregnant rabbits at 22 days’ gestational age (term 32 days) one amniotic sac in each uterine horn (n = 24) was used for a fetoscopic procedure. After laparotomy, a 2- to 3-mm microsurgical myometrial incision was made to expose the chorionic and amniotic membrane. Under microscopic control, a 2-mm needle was inserted into the amniotic sac. Through this a 1.2-mm endoscope was passed to carry out fetoscopy during maximally 10 min, using 5–10 ml saline amnioinfusion. Mean outcome measurements were ability to visualize the placenta, umbilical cord and the different fetal elements during fetoscopy, as well as fetal survival and weight at second-look operation at 30 days. The untreated amniotic sacs served as negative controls. Results: In all cases, fetoscopy could be carried out successfully, and all fetuses survived till delivery without significant influence on fetal birth weight. Conclusion: The midgestational rabbit can be used to perform fetoscopy.
In utero Fetal Muscle Biopsy: A Precious Aid for the Prenatal Diagnosis of Duchenne Muscular Dystrophy
Authors: Heckel Sergine , Favre Romain , Flori Jean , Koenig Michel , Mandel Jean-Louis , Gasser Bernard , Chaigne Denis
Published: April 2003

Prenatal diagnosis for Duchenne muscular dystrophy can usually be performed using DNA analysis. This approach would be impossible when there is only one prior affected male and no identifiable gene deletion. Therefore, in utero fetal thigh muscle biopsy with direct examination of muscle by dystrophin analysis may provide the only means of prenatal diagnosis. We report such a case in which fetal muscle biopsy was able to exclude Duchenne muscular dystrophy. A detailed literature review of the topic is provided.
Three-Dimensional Imaging of the Postmortem Fetus by MRI: Early Experience
Authors: Brookes Jocelyn A.S. , Deng Jing , Wilkinson Iain D. , Lees William R.
Published: April 2003

Objective: The feasibility and significance of three-dimensional (3D) visualization of the postmortem fetus using magnetic resonance imaging (MRI) was investigated. Methods: 3D reconstruction of sectional MRI data sets from 8 postmortem fetuses was performed. Results: Fetal configurations and internal structures, both normal and pathological, were clearly demonstrated by 3D display. Conclusion: This new technique provides high quality fetal 3D images for postmortem morphological diagnosis and interactive visual teaching. It may eventually have applications in prenatal diagnosis and the preoperative simulation of fetal surgery.
Impact of Demographic Factors on Prenatal Diagnosis and Elective Pregnancy Termination because of Abdominal Wall Defects, Hawaii, 1986–1997
Authors: Forrester Mathias B. , Merz Ruth D.
Published: April 2003

Objective: The intent of this study was to investigate the impact of various demographic factors on the antenatal diagnosis and elective termination of abdominal wall defect pregnancies. Method: Data were obtained from a birth defects registry in Hawaii between 1986 and 1997. Results: The antenatal diagnosis rate was higher for gastroschisis than for omphalocele (76 vs. 60%). However, gastroschisis pregnancies were substantially less frequently electively terminated than omphalocele pregnancies (8 vs. 29%). Factors such as year of diagnosis and delivery, maternal age, race/ethnicity, residence, and maternal serum α-fetoprotein screening affected the prenatal diagnosis and/or elective termination of both omphalocele and gastroschisis pregnancies, but frequently in different ways. Conclusion: This investigation determined that antenatal diagnosis and elective termination varied with the type of abdominal wall defect and selected demographic factors.
Improvement of Fetal Cell Recovery from Maternal Blood: Suitable Density Gradient for FACS Separation
Authors: Sekizawa Akihiko , Farina Antonio , Zhen Dong Kai , Wang Ji Yi , Falco Vincent M. , Elmes Sarah , Bianchi Diana W.
Published: April 2003

Objective: To improve the recovery of fetal nucleated erythrocytes (NRBCs) from maternal blood for noninvasive prenatal genetic diagnosis. Methods: Blood samples were obtained from 10 women at 8–22 weeks of gestation. Samples were split and mononuclear cells were isolated using 1.083 and 1.090 g/ml of Percoll solution. Flow sorting with antibody to fetal hemoglobin and fluorescence in situ hybridization (FISH) analysis were used to evaluate the number of fetal cells recovered. Results: In samples separated with the 1.090 density gradient, the yield of true γ-hemoglobin-positive cells (median 21.0, range 2.2–303.8) was 1.9 times higher than that in the 1.083 density (median 11.1, range 1.1–87.5), although it took 2.1-fold longer time to flow sort the γ-hemoglobin-positive cells. In 7 out of 10 cases, the number of γ-hemoglobin-positive cells recovered from the 1.090 density gradient was 3 times or greater than that from 1.083 gradient. After FISH analysis, we detected a median of 13.3 (range 2.2–98.8) fetal NRBCs per 10-ml maternal blood in the 1.090 density gradient, whereas a median of 11.0 fetal NRBCs were detected in the 1.083 gradient (range 1.1–35.0). The number of fetal NRBCs in the 1.090 density was significantly higher than that in the 1.083. Conclusion: Increased Percoll density results in improved fetal cell recovery in fresh posttermination maternal samples. The increased yield of fetal cells using this gradient may permit better noninvasive detection of fetal chromosome as well as DNA abnormalities in maternal blood.
Effects of Fetal Endotoxin Administration on Plasma Prostaglandin F2α and Cortisol Levels in Late-Gestation Fetal Goats
Authors: Kijima Kazuhiro , Yoneyama Yoshio , Sawa Rintaro , Araki Tsutomu
Published: April 2003

Objective: Fetal plasma prostaglandin F2α (PGF2α) and cortisol responses to fetal endotoxin administration were evaluated in late-gestation goats (n = 9). Methods: After endotoxin (Escherichia coli, O111:B4 lipopolysaccharide) administration, fetal plasma PGF2α and cortisol levels, fetal blood gases and pH were measured periodically. Results: After endotoxin administration, fetal plasma cortisol levels increased to 9.8 ± 1.4 and 9.4 ± 1.2 ng/ml after 1 and 3 h, respectively (p < 0.05) and PGF2α levels did not change throughout the study. Conclusions: These results suggest that absent PGF2α and attenuated cortisol responses to fetal endotoxin administration, relative to the adult, may be a self-protective mechanism which diminishes the likelihood of premature delivery.
Fetal Hydrocephalus Secondary to Intraventricular Hemorrhage Diagnosed by Ultrasonography and in utero Fast Magnetic Resonance Imaging
Authors: Hashimoto Ichiro , Tada Katsuhiko , Nakatsuka Mikiya , Nakata Takakimi , Inoue Nanako , Takata Masayo , Kudo Takafumi , Joja Ikuo
Published: April 2003

Although fetal hydrocephalus is commonly detected by prenatal ultrasonographic examination, posthemorrhagic hydrocephalus has rarely been observed in the fetus. We report a case of hydrocephalus secondary to intraventricular hemorrhage (IVH) diagnosed by in utero magnetic resonance imaging (MRI) at 37 + 1 weeks of gestation. Ultrasonography revealed enlargement of the bilateral ventricles and an irregular mass measuring 20 × 12 × 10 mm in the right lateral ventricle. T1-weighted images with two-dimensional fast low-angle shot (2D-FLASH) and T2-weighted images with half-Fourier single-shot turbo spin echo (HASTE) demonstrated that an old hemorrhagic clot existed in the right lateral ventricle of the fetus. Hydrocephalus secondary to IVH was confirmed by postnatal MRI and ventriculoscopy. Fast MRI is especially useful for prenatal diagnosis of fetal brain abnormalities because it minimizes the artifact of fetal movement.
Management of Acute Chylothorax with Hydrops fetalis Diagnosed in the Third Trimester of Pregnancy
Authors: Takeuchi Kyousuke , Moriyama Toshitake , Oomori Shinya , Masuko Kazuhisa , Maruo Takeshi
Published: April 2003

A fetus with large pleural effusion and hydrops fetalis diagnosed in the third trimester was successfully treated with prompt vaginal delivery followed by drainage of the pleural cavity, after confirmation of congenital chylothorax and re-expansion of the lung with prenatal thoracentesis.
Recombinant Erythropoietin in the Prevention of Late Anaemia in Intrauterine Transfused Neonates with Rh-Haemolytic Disease
Authors: Zuppa A.A. , Maragliano G. , Scapillati M.E. , Florio M.G. , Girlando P. , Noia G. , De Santis M. , Cavaliere A.F. , Romagnoli C. , Tortorolo G.
Published: April 2003

Objective: To evaluate the efficacy of recombinant human erythropoietin (rHuEPO) in prevention of late anaemia due to Rh-haemolytic disease in neonates subjected to one or more intrauterine transfusions (IUTs). Study Design: Six neonates (GA 28–38 weeks, BW 980–3,360 g), subjected to one or more IUTs for Rh-haemolytic disease, were treated for 3 weeks with rHuEPO (200 U/kg/day, s.c.) after the second week of life to prevent late anaemia and consequently reduce the need for blood transfusions. All treated neonates were supplemented weekly with iron, vitamin E and folinic acid, intramuscularly. Results: Of the 6 patients studied, 4 preterm neonates, after commencement of rHuEPO treatment, showed a decrease in Hct values with persistent reticulocytopenia, and consequent need for one or more transfusions with packed and filtered red cells (PFRC). These 4 neonates had received a greater blood volume with IUTs than the 2 other term neonates, who, after starting rHuEPO treatment, showed an increase in Hct values and in reticulocyte count, with no transfusion requirements after birth (247 ± 47 vs. 84 ± 76 ml). Conclusions: Our results seem to correlate the efficacy of erythropoietin treatment in prevention of late anaemia resulting from Rh-haemolytic disease to the severity of intrauterine anaemia and to gestational age. Erythropoietin, in fact, was less effective in cases of severe intrauterine anaemia requiring a high volume of PFRC; it was also less effective in the preterm babies, because of the simultaneous presence of anaemia of prematurity and other major diseases.
Twenty-Four Cordocenteses in One Woman
Authors: Ulm Barbara , Ulm Martin R. , Deutinger Josef , Bernaschek Gerhard
Published: April 2003

We report on 2 consecutive pregnancies in a woman with a history of neonatal death secondary to Rhesus alloimmunization. Her first subsequent pregnancy was complicated by fetal hydrops at 20 weeks of gestation. The fetus received a total of 11 intrauterine transfusions, and was delivered at 38 weeks. In the patient’s next pregnancy, the fetus developed hydrops at 18 weeks of gestation. Thirteen intrauterine transfusions were given to correct fetal anemia, and a healthy baby was delivered at 38 weeks of gestational age. Continuation of intravascular transfusion therapy may represent a reasonable alternative to selective premature delivery even in cases with highly aggressive maternal Rhesus alloimmunization.
Prenatal Orogastric Gene Delivery Results in Transduction of the Small Bowel in the Fetal Rabbit
Authors: Wu Ying , Liu Jing , Woo Savio , Finegold Milton J. , Brandt Mary L.
Published: April 2003

Background: Gene therapy for meconium ileus, or other genetic diseases involving the gastrointestinal epithelium, may be possible with prenatal delivery of the CFTR gene to the gastrointestinal tract. Although minimally invasive techniques will probably be used for any future therapy of gastrointestinal disease, it is important to first test this strategy with a reliable animal model. Methods: The technique of orogastric fetal gene delivery was assessed using 7 pregnant rabbits (22 days’ gestation n = 1, 25 days’ gestation n = 4, 28 days’ gestation n = 2). Four fetuses from each litter were given an adenoviral vector carrying a marker gene by instilling it into the posterior pharynx with an animal feeding needle (1 × 1010 particles of ADV/RSV/LacZ suspended in 0.3 ml of saline), with the untreated fetuses serving as control animals. Results: There were no recoverable fetuses from the does that had surgery at 22 and 28 days (n = 3) due to maternal death (n = 2) and premature delivery (n = 1). Among the 4 does that underwent hysterotomy at 25 days of gestation, 1 underwent cesarean section 2 days after fetal gene delivery and 3 delivered at term, 5 (n = 1) or 6 (n = 2) days following gene delivery. Eleven of the 16 experimental pups and 7 untreated control animals were collected alive, and were sacrificed at delivery for study. Nine of the 11 experimental pups (82%) showed positive blue (LacZ+) nuclei in the small intestine by X-gal staining. No positive cells were found in 7/7 control animals. The presence of the reporter gene LacZ was confirmed in 8/11 (73%) virus-treated pups by PCR with 5/5 control animals negative for LacZ by PCR. Conclusions: There was significant maternal and fetal loss related to anesthetic and husbandry issues when surgery was performed at 22 or 28 days of gestation. Based on these preliminary results, we conclude that orogastric gene delivery in the rabbit fetus at 25 days’ gestation is an encouraging animal model to study fetal delivery to the gastrointestinal tract.
Biometry of the Fetal Heart between 10 and 17 Weeks of Gestation
Authors: Gembruch Ulrich , Shi Chun-yan , Smrcek Jan M.
Published: April 2003

Objectives: Assessment of the dimensions of the cardiac chambers and the great arteries in the human fetus may be helpful in the prenatal diagnosis of congenital heart disease. The purpose of this prospective cross-sectional study was to compile normative data in fetal cardiac measurements in early pregnancy. The structure of the fetal heart was examined in 136 normal singleton fetuses between 10 and 17 weeks of gestation. Methods: The transversal heart diameter, both ventricular dimensions, interventricular septal thickness, heart area, heart circumference, thoracic diameter, thoracic circumference and thoracic area were measured in the four-chamber view during diastole. Diameters of the pulmonary trunk and ascending aorta were obtained in the short axis and long axis view during systole. Ultrasound examinations were performed with a 5.0-MHz transvaginal and/or transabdominal phased-array sector scanner. Results: The four-chamber view and the cross-over of the pulmonary artery and the aorta were adequately visualized in 44% of the fetuses at 10 weeks of gestation, in 75% at 11 weeks of gestation, in 93% at 12 weeks of gestation and in 100% of the fetuses at 13–17 weeks of gestation. Before 14 weeks of gestation transvaginal sonography was superior to the transabdominal sonography in visualization of the fetal heart and great arteries. After 14 weeks of gestation transabdominal sonography accurately demonstrated the structure of the fetal heart. The ratio of right and left ventricle (RV/LV) and the ratio of the pulmonary trunk and aorta (PT/AO) were constant during this period of gestation (approximately 1.00 and 1.10, respectively). The ratio of the cardiac and thoracic area showed only a slight increase with advancing gestational age, but with significant correlation. The fetal heart rate showed a slow decrease from 167 to 150 bpm in this period of gestation. The transversal heart diameter, both ventricular dimensions, interventricular septal thickness, heart area, cardiothoracic diameter ratio, aortic diameter and the pulmonary trunk diameter showed a highly significant linear correlation to the gestational age and the biparietal diameter. Conclusion: The advancing quality of ultrasound images allows fetal echocardiography in the first and early second trimester. Our normative data could be the basis of studying the development of cardiac structures in congenital heart disease and it might be helpful in the detection of some congenital heart defects in early pregnancy.
Does Amniotomy Influence the Prognosis of Babies in Cases with Severe Chorioamnionitis?
Authors: Suzuki Yoshikatsu , Shikada Tomomi , Yamamoto Tamao , Kojima Kazuhisa , Murakami Isamu , Okajima Kazuki , Goshima Akira , Suzumori Kaoru
Published: April 2003

We report our experience in a woman with a twin pregnancy. The patient suffered severe Escherichia coli chorioamnionitis and the outcomes were different between the two babies after birth. The first baby had only a mild infection, but the second suffered sepsis and subsequent perinatal death. These differences in outcome appeared to be due to amniotomy performed for the first baby after late labor stage I to augment uterus contractions. Removal of infectious amniotic fluid from the amniotic cavity might thus have prevented the spread of the chorioamnionitis. E. coli sometimes causes severe infection during pregnancy and the perinatal period. In this case, a large number of enteropathogenic E. coli (serotype O-6) was cultured from blood, stool, pharyngeal swab, gastric juice and puncture fluid from the thoracic cavity of the second baby. O-6 is classified an enterotoxigenic strain mainly causing diarrhea because of endotoxin released from bacteria. O-6 has not hitherto been reported as a cause of severe infection in chorioamnionitis and perinatal sepsis.
Transvaginal Assessment of Fetal Anatomy at 11 to 16 Weeks of Gestation in Relation to Fetal Position
Authors: Rosati Paolo , Guariglia Lorenzo , Bertuzzi Alessandro
Published: April 2003

Objective: To investigate the ability of the high-frequency transvaginal scanning technique to assess embryo-fetal anatomy in early pregnancy in relation to fetal position and in comparison with transabdominal scan. Methods: A study population of 1,402 pregnant women were examined by transvaginal ultrasonography performed at 10+1 to 16+0 weeks of pregnancy. At 14+1 to 16+0 weeks of gestation, an ultrasonographic examination was performed in 247 pregnant women by transvaginal and transabdominal route. The criteria necessary for an adequate visualization of fetal organs and structures were met. Results: The visualization rate of complete fetal anatomy increased with increase in menstrual age and fetal position affected this possibility. A detailed brain anatomy was more easily viewed with the fetus in the cephalic or transverse position than in the breech position, whereas the thoracic and abdominal anatomy were viewed more easily with the transverse position compared to the cephalic or breech position. Complete surveys of fetal anatomy were possible in 50% and 62% of women with transabdominal scan and in 85% and 85% with transvaginal one at 15 and 16 weeks’ gestation, respectively (p < 0.001). Conclusion: A detailed assessment of fetal structures was possible in most cases at 13 weeks of gestation. Fetal position can influence this capability. At 14+1 to 15+0 weeks’ gestation more anatomical surveys were completed with a transvaginal scan compared to a transabdominal one and this was influenced by fetal position.
Maternal Serum Screening for Down Syndrome by Using Alpha-Fetoprotein and Human Chorionic Gonadotropin in an Asian Population
Authors: Jou Hei-Jen , Shyu Ming-Kwang , Chen Shih-Ming , Shih Jin-Chung , Hsu Jenn-Jeih , Hsieh Fon-Jou
Published: April 2003

The purpose of the present study is to evaluate the efficacy of second-trimester maternal serum screening program by using α-fetoprotein (AFP) and total human chorionic gonadotropin (hCG) in an Asian population. During June 1994 to July 1998, we conducted a prospective study of serum screening protocol for Down syndrome. The cut-off point for a positive result in this analysis was a risk of ≥1/270. A total of 17,742 pregnant women with singleton pregnancy were screened, and 1,153 (6.5%) had positive result. Sixteen of the 17,742 pregnancies had Down syndrome, and 10 of them had positive result. The positive rate and detective rate for Down syndrome were 6.5 and 62.5%, respectively. However, the detective rate will reduce to 47.6% after being adjusted by age-specific risk. It is indicated that the double-marker test using AFP and total hCG is an effective screen strategy for second-trimester detection of Down syndrome in Asian women.
Efficacy of Maternal Serum Screening in the Prenatal Detection of Fetal Chromosome Abnormalities in Japanese Women
Authors: Kishida Tatsuro , Hoshi Nobuhiko , Hattori Rifumi , Negishi Hiroaki , Yamada Hideto , Okuyama Kazuhiko , Hanatani Kaoru , Takagi Tsukasa , Sagawa Tadashi , Fujimoto Seiichiro
Published: April 2003

Objective: This prospective study assesses the efficacy of maternal serum screening for use in prenatal diagnosis of fetal anomaly and chromosome imbalance in Japanese women. Methods: Maternal serum α-fetoprotein, human chorionic gonadotropin, and unconjugated estriol were measured in 1,055 singleton pregnant women between 14 and 20 weeks of gestation. A calculated risk for trisomy 21 of ≥1/299 or α-fetoprotein ≥2.5 multiples of the median was adopted as positive. Results: Three hundred and seventy-eight of the 1, 055 women screened (35.8%) were identified as positive. Sensitivity, false-positive rate, and positive predictive value in women aged <35 years were 60.0, 10.6, and 6.8%, respectively, and these values were 87.5, 49.3, and 4.2%, respectively, in women aged ≥35 years. The false-positive rate in women aged <35 years was significantly lower than that for women aged ≥35 years (p < 0.001). Chromosomal abnormalities were identified in 21 cases, including 10 with trisomy 21, 5 with trisomy 18, 2 with trisomy 13, and 4 with other chromosomal disorders. Seventeen of the 21 cases (81.0%) showed screen-positive results, and among these all 10 cases with trisomy 21 were detectable. Two cases with trisomy 18, 1 with trisomy 13 and 1 with isochromosome X showed extremely low human chorionic gonadotropin levels (0.4 ± 0.1 multiples of the median, mean ± SE), although they were screen negative. Of the 264 women who did not undergo amniocentesis, none had any clinical findings consistent with aneuploidy after birth. Conclusions: Our results suggest that the evaluation of each serum marker, as well as of the calculated risk, was significantly important in the prenatal detection of fetal aneuploidy.
B19 Parvovirus-Induced Fetal Hydrops:Good Outcome after Intrauterine Blood Transfusion at 18 Weeks of Gestation
Authors: Bousquet Frantz , Segondy Michel , Faure Jean-Michel , Deschamps Françoise , Boulot Pierre
Published: April 2003

We report a successful treatment of a B19 parvovirus-induced fetal hydrops diagnosed at 16 weeks of gestation. This disease could be corrected by means of a unique intraperitoneal blood transfusion performed at 18 weeks, once diagnosis was established. The delivery occurred at 36 weeks, leading to the birth of a healthy baby. This case suggests that transfusion should be attempted, as the spontaneous fetal recovery remains uncertain and shows that intraperitoneal blood transfusion is an effective therapeutic option of the B19 parvovirus-induced anemia, in the absence of a viral myocarditis.
Fetal Impact of Cholestasis of Pregnancy: Experience at Tenon Hospital and Literature Review
Authors: Gaudet Rodolphe , Merviel Philippe , Berkane Nadia , Schouppe Sophie , Cocheton Jean Jacques , Uzan Serge
Published: April 2003

Cholestasis of pregnancy is a liver disorder that occurs during the second half of pregnancy, causing pruritus and elevated serum bile acid levels. Its etiology remains unknown but probably involves vascular and humoral immune responses, mediated by bile acids. This disorder is associated with substantially increased fetal morbidity and mortality. The most satisfactory treatment consists in delivering the fetus as soon as pulmonary maturation has occurred.
Usefulness of Fluorescence in situ Hybridization for the Diagnosis of Turner Mosaic Fetuses with Small Ring X Chromosomes
Authors: Siffroi Jean Pierre , Dupuy Olivier , Joye Nicole , Le Bourhis Corine , Benzacken Brigitte , Portnoi Marie-France , Berkane Nadia , Franco Jean Claude , Studer Christophe , Carbonne Bruno , Gonzales Marie , Bucourt Martine , Uzan Serge , Uzan Michèle , Milliez Jacques , Wolf Jean Philippe , Taillemite Jean-Louis , Dadoune Jean Pierre
Published: April 2003

Objective: To emphasize the usefulness of fluorescence in situ hybridization (FISH) techniques on uncultured amniocytes for the diagnosis of abnormal mosaic karyotypes. Methods: In the course of three prenatal diagnoses, specific fluorescent probes, coding, respectively, for chromosomes X, Y, 18, 13, and 21, were applied on amniocyte preparations directly after amniocentesis. At least 50 nuclei were counted in each case. Parallel to the FISH procedure, cell cultures were set up in order to obtain karyotypes. FISH and cytogenetic results were then compared. Results: In each case, FISH showed an abnormal mosaic chromosomal constitution, 45,X/46,XX, which was related to the existence of tiny ring X chromosomes in karyotypes. Conclusion: Because very small ring X chromosomes can escape identification when standard cytogenetic techniques are used alone, we show that misdiagnosis can be avoided when FISH is performed beforehand.
Parvovirus as a Differential Diagnosis of Hydrops fetalis in the First Trimester
Authors: Sohan Karen , Carroll Stephen , Byrne Dominic , Ashworth Michael , Soothill Peter
Published: April 2003

We report a case of fetal parvovirus B19 infection which appears to have resulted in hydrops in the first trimester. An ultrasound scan performed at the booking visit of a woman in the first trimester showed generalised oedema. Karyotyping to exclude a fetal abnormality was normal. Maternal radioimmunoassay serological investigations showed parvovirus B19 IgG and IgM. Post-mortem analysis revealed intranuclear inclusion bodies typical of parvovirus in the erythroid cells in the liver and in the myocardium.
Congenital Cystic Adenomatoid Malformation of the Lung: Antenatal Ultrasound Findings and Fetal-Neonatal Outcome
Authors: De Santis M. , Masini L. , Noia G. , Cavaliere A.F. , Oliva N. , Caruso A.
Published: April 2003

Seventeen cases of congenital cystic adenomatoid malformation of the lung (CCAM) are reported. They were followed up over a period of 1 month to 15 years. Diagnosis was made by prenatal ultrasound. Our purpose was to evaluate the fetal-neonatal outcome and the prognostic elements observable through ultrasound techniques, and to compare all types of CCAM. The outcome observed ranged from total prenatal resolution to postnatal spontaneous regression of the lesion, to complications due to the presence of nonimmune fetal hydrops (NIFH), intrauterine death and the necessity of surgical intervention. In our experience only hydrops represented a negative predictor of outcome since death occurred in all cases with this pathology. In the absence of NIFH, counselling should stress the prevalence of a positive outcome, even in cases of surgical intervention.
Twin-Twin Transfusion Syndrome: The ‘Select’ Procedure
Authors: Feldstein Vickie A. , Machin Geoffrey A. , Albanese Craig T. , Sandberg Per , Farrell Jody A. , Farmer Diana L. , Harrison Michael R.
Published: April 2003

Objectives: Twin-twin transfusion syndrome (TTTS) is associated with a high risk of perinatal morbidity and mortality. The condition results from intertwin vascular connections in the shared placenta. We report here a case of early, severe TTTS that failed to respond to serial amniocenteses and that was successfully treated by means of superselective laser coagulation. Methods: A causative arteriovenous anastomosis was identified by means of prenatal obstetrical sonography, using color and spectral Doppler techniques. At fetoscopy, performed at 23 weeks’ gestation, laser occlusion of only this connection was achieved. Results: This therapeutic intervention resulted in rapid resolution of all evidence of TTTS and a successful pregnancy outcome, with subsequent delivery of 2 healthy infants at 33 weeks’ gestation. Conclusions: The potentially fatal pathophysiology of TTTS was reversed by interruption of a single arteriovenous connection. We have termed this the sonographically evaluated, laser-endoscopic coagulation for twins (‘Select’) procedure.
3D Real-Time Imaging of the Fetal Heart
Authors: Scharf Alexander , Geka Fani , Steinborn Andrea , Frey Holger , Schlemmer Alfred , Sohn Christof
Published: April 2003

Objective: The aim of this study was to evaluate the clinical utility of a novel 3D scanner system for real-time 3D fetal echocardiography. Method: In a prospective study, 13 single, healthy 20- to 24-week-old fetuses were examined with conventional 2D and real-time 3D echocardiography. The visualization rates and imaging quality of standard cardiac views were compared between both methods. Results: The visualization rates of standard cardiac planes were found to be slightly increased and more easily obtainable in 3D imaging whereas the image quality showed better results with conventional 2D echocardiography. Conclusion: Our data show that real-time 3D fetal echocardiography can be considered a useful tool in the evaluation of the fetal heart with the necessity for further refinement of the resolution quality
Waterbirths: A Comparative Study
Authors: Geissbühler Verena , Eberhard Jakob
Published: April 2003

Background: Waterbirths were introduced in 1991 as part of a new birth concept which consisted of careful monitoring and birth management, restrictive use of invasive methods and free choice of different birth methods. Methods: After the introduction of this new birth concept a prospective observational study was initiated. All parturients of the region give birth in our clinic without preselection, ours being the only birth clinic of the region. 2% of the parturients will be referred to a larger birth clinic (university clinic) mainly because of preterm births before the end of the 33rd week of pregnancy. Every one of the 7,508 births between November 1991, and May 21, 1997, was analyzed. In this article the birth parameters of mother and child in the most often chosen spontaneous birth methods will be compared to assess the safety of alternative birth methods in general and of waterbirths in particular. 2,014 of these 5,953 spontaneous births were waterbirths, 1,108 were Maia-birthing stool births and 2,362 bedbirths (vacuum extractions not included). Results: The parity and age of the mother as well as the newborn’s birth weight are comparable in all 3 groups: waterbirth, Maia-birthing stool, and bedbirths. An episiotomy was performed in only 12.8% of the births in water, in 27.7% of the births on the Maia-birthing stool and in 35.4% of the bedbirths. These differences are statistically significant. In spite of the highest episiotomy rates, the bedbirths also show the highest 3rd- and 4th-degree laceration rates (4.1%), thus the difference between the rates for bedbirths and alternative births methods for severe lacerations is significant. The mothers’ blood loss is the lowest in waterbirths. Fewer painkillers are used in waterbirths and the experience of birth itself is more satisfying after a birth in water. The average arterial blood pH of the umbilical cord as well as the Apgar scoring at 5 and 10 min are significantly higher after waterbirths. Infections of the neonate do not occur more often after waterbirths. No case of water aspiration or any other perinatal complication of the mother or child which might be water-related was reported. Conclusion: Waterbirths and other alternative forms of birthing such as Maia-birthing stool do not demonstrate higher birth risks for the mother or the child than bedbirths if the same medical criteria are used in the monitoring as well as in the management of birth.
Increased Nuchal Translucency in a Case of Long-Chain 3-Hydroxyacyl- Coenzyme A Dehydrogenase Deficiency
Authors: Tercanli Sevgi , Uyanik Gökhan , Hösli Irene , Cagdas Arzu , Holzgreve Wolfgang
Published: April 2003

We present a case where the embryo showed an increased nuchal edema and a metabolic disorder. At 31 weeks of gestation the fetus developed a cardiomegaly and a hydrops. In this case, a long-chain 3-hydroxacyl-coenzyme A dehydrogenase deficiency (LCHAD deficiency) was confirmed by biochemical investigations in cultured chorionic villus cells and by DNA analysis. This metabolic disease causes a reduced production of mitochondrial trifunctional proteins and is a very rare autosomal-recessive disease.