bluuebunny/crossref_metadata_2025_split huggingface dataset:
First‐trimester ultrasonic diagnosis of twin reversed arterial perfusion sequence
Authors: Shalev E. , Zalel Y. , Ben‐Ami M. , Welner E. 
Published: March 2007

AbstractTwin reversed arterial perfusion (TRAP) syndrome sequence is a rare specific anomaly of twin gestation with fused placentae and umbilical anastomosis. This syndrome occurs once in very 35 000–48 000 births and has been described in the second trimester (23‐29 weeks of gestation). We report on early sonographic diagnosis (10 and 12 weeks' gestation) of two cases of TRAP sequence, together with their umbilical cord Doppler studies.
Transvaginal chorionic villus sampling using transabdominal ultrasound guidance
Authors: Shulman Lee P. , Simpson Joe Leigh , Felker Richard E. , Emerson Donald S. , Meyers Carole M. , Phillips Owen P. , Elias Sherman 
Published: March 2007

AbstractTransvaginal chorionic villus sampling (CVS) using concurrent transabdominal ultrasound guidance was performed in six women who desired CVS but could not be offered transcervical or transabdominal approaches because of uterine position and placental location. Satisfactory amounts of chorionic villi were obtained in all six cases with no maternal discomfort, an occurrence that contrasts with our experience in transvaginal CVS using endovaginal ultrasound guidance. We believe that transvaginal CVS using concurrent transabdominal ultrasound guidance warrants consideration as an alternative technique for first‐trimester CVS in selected patients.
Prenatal diagnosis of alpha‐1‐antitrypsin deficiency by PCR of linked polymorphisms: A study of 17 cases
Authors: Abbott C. M. , Lovegrove J. U. , Whitehouse D. B. , Hopkinson D. A. , Povey S. 
Published: March 2007

AbstractWe describe our experiences of prenatal diagnosis of alpha‐1‐antitrypsin deficiency using closely linked polymorphisms detected by Southern blotting and the polymerase chain reaction. Prenatal diagnosis was carried out for 17 pregnancies from 15 couples.
Evaluation of prenatal diagnosis by a registry of congenital anomalies
Authors: Stoll Claude , Alembik Yves , Dott Béatrice , Roth Marie‐Paule , Finck Sonja 
Published: March 2007

AbstractPrenatal diagnosis performed by fetal karyotype and ultrasound scan is now a routine part of antenatal care in many countries. How many fetal anomalies are actually detected by these procedures? We have used our registry of congenital malformations to answer this question. In our region, prenatal diagnosis was performed in 23.1 per cent of fetuses with a chromosomal aberration and in 20.1 per cent of fetuses with non‐chromosomal anomalies. Only 6.9 per cent of the pregnancies with fetuses with non‐chromosomal anomalies were terminated. The sensitivity of prenatal diagnosis by ultrasonographic examination was much lower for isolated malformations (fetuses with only one anomaly) than for multiple malformed children, 15.3 and 48.3 per cent respectively, chromosomal anomalies excluded.
Maternal serum alpha‐fetoprotein levels and fetal outcome in early second‐trimester oligohydramnios
Authors: Los Frans J. , Hagenaars Adriana M. , Marrink Jan , Cohen‐Overbeek Titia E. , Gaillard Johannes L. J. , Brandenburg Helen 
Published: March 2007

AbstractEarly second‐trimester oligohydramnios was associated with normal maternal serum alpha‐fetoprotein (MSAFP) levels in nine out of 26 cases (35 per cent). Congenital malformations of the fetal urinary tract resulting in fetal anuria were present in nine cases; in seven of them, normal MSAFP levels were measured. In contrast, normal MSAFP levels were established in only 2 out of the 17 cases without fetal malformations. These data suggest that fetal urine is the major source of elevated AFP in the maternal compartment in early second‐trimester oligohydramnios. This is further supported by the lack of any relationship between concentrations of MSAFP non‐reactive with Concanavalin A, originating mainly from the yolk sacderived amniotic fluid AFP pool, and the presence of fetal diuresis. Three out of 26 women had experienced early second‐trimester oligohydramnios in a previous pregnancy, suggesting the existence of a recurrence risk for this condition.
The risk and efficacy of chorionic villus sampling in multiple gestations
Authors: Pergament E. , Schulman J. D. , Copeland K. , Fine B. , Black S. H. , Ginsberg N. A. , Frederiksen M. C. , Carpenter R. J. 
Published: March 2007

AbstractChorionic villus sampling (CVS) in the first trimester of pregnancy provides a safe and effective method for the early prenatal diagnosis of cytogenetic abnormalities in multiple gestations. In this multicentre study involving 126 twin and 2 triplet gestations primarily at risk because of advanced maternal age, the overall success rate of obtaining an adequate villus sample from each fetus was 99.2 per cent. For women of advanced maternal age, the rate of combined losses of chromosomally normal fetuses due to spontaneous abortion, stillbirths, and neonatal deaths was 5.0 per cent, compared with a 4.0 per cent total loss rate following CVS in singleton pregnancies derived from the same population (Rhoads et al., 1989). There was a 100 per cent success rate in obtaining a cytogenetic analysis; a cytogenetic abnormality was present in five of the multiple gestations (3.9 per cent) and involved seven fetuses (2.7 per cent). There were no diagnostic errors and no cases of normal cytogenetic diagnosis followed by the birth of a cytogenetically abnormal newborn. Based on cases of XX/XY admixture, cell contamination derived either from maternal decidua or the other twin occurred in 6 of 256 samples (2.3 per cent), giving an overall estimate of the frequency of cell contamination of 4.6 per cent; these cases did not present a diagnostic problem. However, there were two cases (0.8 per cent) in which the fetal sex was incorrect, due either to complete maternal cell contamination or to the possibility that in error one twin was sampled twice.
Trisomy 5 mosaicism detected prenatally with an affected liveborn
Authors: Sciorra Leonard J. , Hux Charles , Day‐Salvadore Debra , Lee Ming‐Liang , Mandelbaum David E. , Brady‐Yasbin Sheila , Frybury Julie , Mahoney Maurice J. , Dimaio Miriam Schoenfeld 
Published: March 2007

AbstractThis paper reports a case of chromosomal mosaicism for trisomy 5 recovered from amniotic fluid cells and from skin fibroblasts of a liveborn dysmorphic male. Routine amniocentesis was performed at 16 weeks' gestation because of parental concern. Trisomy 5 cells were measured from 25 per cent of amniocytes from two culture vessels. No further invasive testing was performed until 32 weeks' gestation, at which time ultrasound examination showed fetus with intrauterine growth retardation. Fetal blood sampling was then performed, with only karyotypically normal cells recovered. At birth, the child was found to have multiple dysmorphic features and congenital anomalies, including an eventration of the diaphragm and ventricular septal defect, both of which required surgical correction. Chromosomal analysis of cord blood lymphocytes indicated 46,XY; however, 20 per cent of the cultured fibroblasts obtained from the chest skin at the incision site for diaphragmatic repair had a 47,XY,+5 karyotype. Trisomy 5 mosaicism may be another example of tissue‐limited mosaicism. Fetal blood sampling can then be falsely reassuring. Furthermore, because some cell lines rarely appear in lymphocyte populations, cytogenetic analysis of multiple tissues warranted as part of the evaluation of individuals with developmental delay and dysmorphic features.
A further prenatal diagnosis of mosaic tetrasomy 12p (Pallister‐Killian syndrome)
Authors: Tejada M. I. , Uribarren A. , Briones P. , Vilaseca M. A. 
Published: March 2007

AbstractA case of mosaic tetrasomy 12p was detected in amniotic fluid cell cultures from a 28‐year‐old woman referred to us at 26 weeks' gestation because of hydramnios. The fetus was shown on ultrasonography to have an omphalocele and a short femur length. Labour was induced at 32 weeks. An infant with multiple congenital anomalies was delivered and died after 10 min. The diagnosis of i(12p) or Pallister‐Killian syndrome was confirmed cytogenetically in fibroblast and lymphocyte cultures. Increased LDH‐B activity was demonstrated in fibroblasts.
Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies
Authors: Hsu Lillian Y. F. , Kaffe Sara , Jenkins Edmund C. , Alonso Lita , Benn Peter A. , David Karen , Hirschhorn Kurt , Lieber Ernest , Shanske Alan , Shapiro Lawrence R. , Schutta Edward , Warburton Dorothy 
Published: March 2007

AbstractCurrently, accepted protocol which has been developed at the Prenatal Diagnosis Laboratory of New York City (PDL) requires that when a chromosome abnormality is found in one or more cells in one flask, another 20–40 cells must be examined from one or two additional flasks. Chromosome mosaicism is diagnosed only when an identical abnormality is detected in cells from two or more flasks. In a recent PDL series of 12 000 cases studied according to this protocol, we diagnosed 801 cases (6.68 per cent) of single‐cell pseudomosaicism (SCPM), 126 cases (1.05 per cent) of multiple‐cell pseudomosaicism (MCPM), and 24 cases (0.2 per cent) of true mosaicism. Pseudomosaicism (PM) involving a structural abnormality was a frequent finding (2/3 of SCPM and 3/5 of MCPM), with an unbalanced structural abnormality in 55 per cent of SCPM and 24 per cent of MCPM. We also reviewed all true mosaic cases (a total of 50) diagnosed in the first 22000 PDL cases. Of these 50 cases, 23 were sex chromosome mosaics and 27 had autosomal mosaicism; 48 cases had numerical abnormalities and two had structural abnormalities. Twenty‐five cases of mosaicism were diagnosed in the first 20 cells from two flasks, i.e., without additional work‐up, whereas the other 25 cases required extensive work‐up to establish a diagnosis (12 needed additional cell counts from the initial two culture flasks; 13 required harvesting a third flask for cell analysis). Our data plus review of other available data led us to conclude that rigorous efforts to diagnose true mosaicism have little impact in many instances, and therefore are not cost‐effective.On the basis of all available data, a work‐up for potential mosaicism involving a sex chromosome aneuploidy or structural abnormality should have less priority than a work‐up for a common viable autosomal trisomy.We recommend revised guidelines for dealing with (1) a numerical versus a structural abnormality and (2) an autosomal versus a sex chromosome numerical aneuploidy. Emphasis should be placed on autosomes known to be associated with phenotypic abnormalities. These new guidelines, which cover both flask and in situ methods, should result in more effective prenatal cytogenetic diagnosis and reduced patient anxiety.
Mutation analysis for prenatal diagnosis and heterozygote detection of Gaucher disease type III (norrbottnian type)
Authors: Dahl Niklas , Wadelius Claes , Annerén Göran , Gustavson Karl‐Henrik 
Published: March 2007

AbstractA single base substitution in exon 10 of the glucocerebrosidase gene was detected in families affected by Gaucher disease (GD) type III. This mutation, which results in the substitution of proline for leucine in position 444 of glucocerebrosidase, has been shown to result in type III GD in a Swedish population. Three fetuses at risk for GD type III were diagnosed as homozygous for the mutation and the pregnancies were terminated. In a fourth pregnancy, one parent was excluded as being a carrier and the risk of having a child affected by GD was ignored. Direct analysis of common mutations causal to GD is now available and improves prenatal diagnosis in families where the molecular defect has been characterized.
Meconium peritonitis: Extrusion of meconium and different sonographical appearances in relation to the stage of the disease
Authors: Chalubinski Kinga , Deutinger Josef , Bernaschek Gerhard 
Published: March 2007

AbstractBy chance, we had the opportunity to make serial sonographic observations of the extrusion of meconium in a case of meconium peritonitis. Inflammation leads to exudative processes and production of fluid (ascites) in the fetal abdomen. Sonography at that stage of the disease may lead to a misdiagnosis such as ‘fetal ascites’ or ‘non‐immune hydrops’. After bowel perforation and extrusion of meconium, the latter appears as a solitary mass inside fetal ascites or as disseminated echogenic masses distributed subdiaphragmatically or perihepatically. Within a couple of days, in most cases the echogenicity of the masses increases. Calcifications lead to distinct shadowing. These calcifications are often the only visible signs of a previous meconium peritonitis. Serial sonograms are essential for the management of pregnancies with meconium peritonitis. If the amount of fetal ascites does not increase and no signs of cardiovascular stagnation appear, no invasive intrauterine diagnostic and therapeutic steps are required. In none out of the nine cases was a cause found.
Increased maternal serum alpha‐fetoprotein and human chorionic gonadotropin in compromised pregnancies other than for neural tube defects or Down syndrome
Authors: Beekhuis J. R. , Van Lith J. M. M. , De Wolf B. T. H. M. , Mantingh A. 
Published: March 2007

AbstractIntrauterine fetal death occurred in four women who were ‘screen‐positive’ in a screening programme for neural tube defects (NTDs) and Down syndrome (DS). These women had very high levels of maternal serum alpha‐fetoprotein (MSAFP) and maternal serum human chorionic gonadotropin (MShCG). Therefore, we evaluated all ‘screen‐positive’ women in whom both of these markers were ⩾ 2.0 multiples of the median. The cases fulfilling these criteria totalled 11, and only one of them had no complications. High concentrations of both MSAFP and MShCG in a number of these cases might have been caused by an increased placental volume, which, in turn, might have been induced by decreased perfusion of the placenta. We conclude that screening programmes wrongly determine a high risk of fetal NTD or DS if the concentrations of both these parameters are very high. Invasive diagnostic procedures should be avoided in these cases, particularly in view of the increased risk of an adverse pregnancy outcome.
Prenatal demonstration of a cervical myelocystocele
Authors: Bhargava Ravi , Hammond D. Ian , Benzie Ronald J. , Ventureyra E. Carlos G. , Higgins Michael J. , Martin David J. 
Published: March 2007

AbstractMyelocystocele is a rare spinal cord disorder and has not been described prenatally. We report a case in which prenatal ultrasound and magnetic resonance imaging (MRI) demonstrated a posterior cervical mass which was initially thought to be a meningocele or an atypical cystic hygroma. Surgery performed at 1 day of age showed this to be a myelocystocele. Therefore, the differential diagnosis of an extracranial cystic mass in the posterior cervical region should be expanded to include myelocystoceles.
Introduction of early amniocentesis to routine prenatal diagnosis
Authors: Djalali M. , Barbi G. , Kennerknecht I. , Terinde R. 
Published: March 2007

AbstractWith growing awareness of the problems associated with prenatal cytogenetic diagnoses after CVS, attempts have been made to provide early amniocentesis as an alternative to CVS. Since 1990, at our clinic the gestational age limit for routine diagnostic amniocentesis has been successively lowered, first to 14 and then to 13 weeks of gestation. Thus, 811 prenatal diagnoses were performed after early amniocentesis at 13 weeks (n = 217) and at 14 weeks of gestation (n = 594). No problems were encountered. Culture failure was never observed in the early samples. Using the criteria ‘number of colonies’ and ‘culture duration until harvest’, early samples taken at 14 weeks did not differ significantly from the controls after standard amniocentesis performed at 15 and 16 weeks, respectively, whereas a minority of samples taken at 13 weeks experienced some delay in culturing. However, in each group at least 85 per cent of samples led to a diagnosis fulfilling our standard criteria of a safe diagnosis (at least 20 metaphases of at least five colonies from at least one primary culture after trypsinization) within 15 days. Some differences between the different groups can be recognized: culture duration of less than 11 days tends to be increasing after standard amniocentesis, whereas long culture duration (more than 20 days) is more often associated with early amniocentesis. However, this trend is only minimal and did not result in an increased risk of missing a diagnosis.
Pseudomosaicism, true mosaicism, and maternal cell contamination in amniotic fluid processed with in situ culture and robotic harvesting
Authors: Moertel Cheryl A. , Stupca Peggy J. , Dewald Gordon W. 
Published: March 2007

AbstractThis study was designed to test the usefulness of the common definitions for maternal cell contamination, true mosaicism, and pseudomosaicism for amniotic fluid specimens processed by in situ culture and robotic harvesting. We prospectively studied 4309 consecutive amniotic fluid specimens processed with these methods and found that 0.84 per cent had maternal cell contamination, 0.28 per cent had true mosaicism, and 5.4 per cent had pseudomosaicism. Although the frequencies of maternal cell contamination and true mosaicism were comparable to those in similar published studies, the frequency of pseudomosaicism was more than twice as high as that in previous reports. This finding is most likely not due to the method, but rather to a more accurate estimate of the actual frequency of pseudomosaicism in amniotic fluid cultures than reported heretofore. Follow‐up clinical information was available on 72 per cent of the cases. In three cases of true mosaicism involving structural anomalies, the results of cytogenetic follow‐up studies on the neonates were normal. None of the pseudomosaic cases involving trisomy 8, 13, 18, or 21; triple X; or monosomy X were associated with newborns who had birth defects.
Spontaneous cessation of umbilical blood flow in the acardiac fetus of a twin pregnancy
Authors: Cox M. , Murphy K. , Ryan G. , Kingdom J. , Whittle M. , McNay Margaret 
Published: March 2007

AbstractThe acardiac fetus is a rare entity found only in monozygotic multiple pregnancy. Although the acardiac fetus is non‐viable, the perinatal mortality rate for the normal fetus may be as high as 50 per cent, and is usually associated with fetal heart failure and hydrops fetalis, or as the result of prematurity. In this communication, we describe a case of spontaneous cessation of blood flow to an acardiac fetus and discuss the management of this condition with special reference to optimizing the outcome for the normal fetus.
Early second‐trimester sonographic appearance of occipital haemangioma simulating encephalocele
Authors: Bronshtein M. , Bar‐Hava I. , Blumenfeld Z. 
Published: March 2007

AbstractEncephalocele is the most common cause of occipital midline extracranial mass associated with hydrocephalus. A case is presented where an occipital extracranial mass associated with hydrocephalus which was detected on second‐trimester ultrasound examination turned out to be a haemangioma, a relatively benign lesion. We suggest that haemangioma should be considered in the differential diagnosis of extracranial masses detected prenatally.
Amiodarone treatment in pregnancy for dilatative cardiomyopathy with ventricular malignant extrasystole and normal maternal and neonatal outcome
Authors: Valensise Herbert , Civitella Concettina , Garzetti Giuseppe Gioele , Romanini Carlo 
Published: March 2007

AbstractAmiodarone treatment in pregnancy might be difficult to handle because of the long half‐life of the drug (14–28 days up to 2 months) and because it reduces maternal and neonatal thyroid activity. Although short‐term use in pregnancy has been described in cases of fetal supraventricular tachycardia, there are few reports on the chronic use of the drug. In this paper we describe our experience with amiodarone treatment in two pregnant sisters with familial dilatative cardiomyopathy and ventricular malignant extrasystole. Prolonged administration of amiodarone (400–200 mg/die) since the beginning of pregnancy did not have any adverse effects; maternal and neonatal thyroid function was normal, as was the neurological and motor development of the neonates.
Prenatal application of fluorescent in situ hybridization (FISH) for identification of a mosaic Y‐chromosome marker, IDIC(Yp)
Authors: Bernstein Renée , Steinhaus Kathryn A. , Cain Mary Jo 
Published: March 2007

AbstractAn amniocentesis was performed at 13.3 weeks' gestation for advanced maternal age. A mosaic sex chromosome pattern was found: of 50 cells examined, 34 had a 45,X karyotype. In 14 cells with a modal number of 46, a recognizable Y was substituted by a small non‐fluorescent marker. C‐banding identified the marker as an isodicentric in 12 cells. In two cells, the non‐fluorescent marker appeared to be monocentric and looked like a non‐fluorescent del (Yq), but could have been an isodicentric Y with inactivation of one of the centromeres. Two cells with a modal number of 47 showed two copies of the monocentric marker. Fluorescent in situ hybridization with an alpha satellite Y‐specific centromeric probe confirmed the Y‐chromosome origin of the markers and allowed for more accurate prenatal diagnostic information.
Diagnosis and prenatal diagnosis of epidermolysis bullosa herpetiformis (Dowling‐Meara) in a mother, two affected children, and an affected fetus
Authors: Holbrook Karen A. , Wapner Ronald , Jackson Laird , Zaeri Nayere 
Published: March 2007

AbstractIn utero skin biopsy was performed on a fetus at risk of an uncertain form of epidermolysis bullosa (EB). The mother had produced two affected offspring diagnosed variously as having junctional or dystrophic EB. The two offspring and the fetus were products of different fathers. The mother claimed to have no disease and on clinical examination was without blisters. Examination of the fetal skin biopsy by light and electron microscopy revealed separation of the epidermal sheet from the majority of the biopsy sample, although occasional remnants of basal cells remained associated with the basement membrane. Aggregations of keratin filaments were observed within basal cells of the detached epidermis and in the attached basal cell remnants. The diagnosis was thus suggested to be epidermolysis bullosa Dowling‐Meara. Re‐review of the clinical and laboratory data from the affected infants revealed a clinical and histological pattern consistent with this diagnosis. Further discussion with the mother revealed that her skin had blistered as a child and that she presently had hyperkeratotic palms and soles. This history is consistent with the autosomal dominantly inherited epidermolysis bullosa herpetiformis (Dowling‐Meara). This is the first reported prenatal diagnosis of EB Dowling—Meara. The morphological criteria of intraepidermal blistering and clumped keratin filaments within basal and immediately suprabasal cells characteristic of an affected individual postnatally also identified an affected fetus. There is, however, insufficient experience to be certain that these findings will hold from region to region in the body or among all affected fetuses, and thus prenatal diagnosis on a morphological basis should still be made with caution.