bluuebunny/crossref_metadata_2025_split huggingface dataset:
Multiple marker screen positivity in the presence of hydrops fetalis
Authors: Knowles Simon , Flett Peter 
Published: March 2007

AbstractThree cases of hydrops fetalis presented in the second trimester as screen‐positive for Down syndrome using multiple maternal serum markers. One case was a karyotypically normal female; one case was a monosomy X (Turner syndrome); and one case was a trisomy 21 (Down syndrome). In each case, the maternal serum human chorionic gonadotrophin (hCG) was disproportionately elevated. These cases support the contention that hydrops fetalis of any aetiology may present as screen‐positive when using multiple maternal serum markers for Down syndrome. Further cases will be necessary before it can be determined whether a disproportionately elevated hCG is predictive of hydrops.
Prenatal diagnosis of focal nodular hyperplasia of the liver
Authors: Petrikovsky B. M. , Cohen H. L. , Scimeca Ph. , Bellucci E. 
Published: March 2007

AbstractA case of focal nodular hyperplasia of the liver presenting in a 36‐week‐old fetus is reported. The tumour appeared on antenatal ultrasound as a 4·0 cm × 3·0 cm × 2·7 cm hypoechoic mass at the periphery of the right lobe of the liver. Colour Doppler imaging showed it to have prominent vascularity. Postnatally, sonography confirmed the presence of a vascular mass within the liver. The tumour was removed at laparotomy and was diagnosed as an area of focal nodular hyperplasia on histopathological examination.
Terminal deletion of Xp in a dysmorphic anencephalic fetus
Authors: Plaja A. , Vendrell T. , Sarret E. , Torán N. , Mediano C. 
Published: March 2007

AbstractWe report an anencephalic fetus with acrania, cervicodorsal rachischisis, and a 46,X,del(X)(p22·1) karyotype. Necropsy revealed a left diaphragmatic hernia, ipsilateral lung hypoplasia, and intestinal malrotation. The fetus also had horseshoe kidneys and adrenal gland hypoplasia with absence of the fetal zone.
Humerus and femur length in fetuses with down syndrome
Authors: Biagiotti Roberto , Periti Enrico , Cariati Ettore 
Published: March 2007

AbstractThe aim of the study was to assess the value of sonographic measurement of fetal humerus and femur lengths in the second trimester as a screening tool for Down syndrome (DS). We reviewed retrospectively fetal sonographic biometry made at the time of amniocentesis between 15 and 19 weeks. The study group consisted of 27 DS fetuses. The control group comprised 500 normal fetuses chosen randomly. The expected humeral and femoral lengths for a given biparietal diameter were estimated by linear regression equations from the 500 normal fetuses. Receiver operating characteristic curve analysis was performed to evaluate both the detection rate and the false‐positive rate of different cut‐off values of measured to expected lengths ratios. The median femur and humeral lengths in DS fetuses were 0·91 times the expected values. No significant differences in the detection rate and false‐positive rate were found between the humerus and femur lengths. When the humeral and femoral lengths were combined, we observed a remarkable reduction in the false‐positive rate. A measured to expected length ratio of 0·91 detected 44·4 per cent of DS fetuses with 7·6 per cent false positives. These results suggest that the combination of femoral and humeral lengths may permit a more efficient use of ultrasound in screening for Down syndrome than the use of either alone.
Prenatal diagnosis of fragile X syndrome: Management of the male fetus with a premutation
Authors: Strain Lisa , Porteous Mary E. M. , Gosden Christine M. , Ellis Patricia M. , Neilson James P. , Bonthron David T. 
Published: March 2007

AbstractDirect detection of the fragile X mutation by DNA analysis has greatly simplified prenatal diagnosis of this disease. However, women carrying a fragile X premutation may pass their expanded trinucleotide repeat to sons without expansion to a full mutation. Such sons are predicted to be intellectually normal. In this situation, the accuracy with which the fetal status can be inferred from analysis of chorionic villus sample (CVS) DNA is unclear. We describe such a case, in which it was felt necessary to proceed to fetal blood sampling despite technically unambiguous DNA results from the CVS. The lack of prospective data means that this dilemma may be expected to recur over the next few years when performing prenatal diagnosis on fragile X premutation carriers.
Comparison of chorionic villus sampling and amniocentesis: Current status of prenatal diagnosis in Japan
Authors: Suzumori K. , Okada S. , Adachi R. , Iida T. , Sumi T. , Tanemura M. , Yagami Y. 
Published: March 2007

AbstractData were tabulated and compared for cases involving prenatal diagnostic procedures performed in the 8 years between January 1985 and December 1992. Of a total of 2781 pregnancies, 2546 cases (91·5 per cent) were diagnosed by amniocentesis, and 235 (8·5 per cent) by chorionic villus sampling (CVS). These findings reflect the fact that amniocentesis has taken deep root as the prenatal diagnostic procedure widely acknowledged by society, whereas even the existence of CVS has yet to be generally recognized. Analysis of our clinical and laboratory results and complication rates, however, suggests that CVS is a safe and accurate alternative to amniocentesis which should and can be positively presented to all patients who are candidates for prenatal diagnosis.
Prediction of an abnormal karyotype in fetuses with omphalocele
Authors: de Veciana M. , Major C. A. , Porto M. 
Published: March 2007

AbstractThe aim of this study was to assess the value of ultrasonographic evaluation in predicting abnormal karyotypes in fetuses with omphalocele. Forty fetuses with antenatally diagnosed omphalocele and available karyotype results were reviewed. Ultrasound evaluation included herniation contents and size, and the detection of other anomalies. Nine of 40 consecutive fetuses had abnormal karyotypes: trisomy 18 (n = 5), trisomy 13 (n = 3), 47,XXX (n = 1). Only 1/25 with an extracorporeal liver versus 8/15 with an intracorporeal liver had abnormal chromosomes [P = 0·0006, RR = 0·14 (0·02 < RR <0·9)]. Small defects (<3 cm) were associated with abnormal karyotypes [P = 0·01, RR = 4·7 (1·4<RR <15·6)]. Finding concurrent malformations was highly associated with chromosomal anomalies [P = 0·00004, RR = 4·4 (2·3 < RR < 8·5)]. The presence of associated malformations, an intracorporeal liver, and a small herniation size are highly suggestive of an associated abnormal karyotype.
A new RFLP marker, SP282, at the btk locus for genetic analysis in X‐linked agammaglobulinaemia families
Authors: Kwan Sau‐Ping , Walker Ann P. , Hagemann Tracy , Gupta Sudhir , Vayuvegula Bharathi , Ochs Hans D. 
Published: March 2007

AbstractX‐linked agammaglobulinaemia is an inherited recessive disease in which the primary defect lies in the failure of pre‐B cells to develop into mature circulating B cells, due to a defective B‐cell cytoplasmic tyrosine kinase (btk). For this study we introduced a new RFLP marker, SP282, which is tightly linked to the XLA locus. In conjunction with the marker DXS178, SP282 was used to identify a carrier female and predict her male offspring to be normal. Subsequently the fetus was shown to have a normal number of circulating B cells, and at 2·5 years of age, the non‐affected phenotype of the child was confirmed.
Early amniocentesis—a cytogenetic evaluation of over 1500 cases
Authors: Eiben B. , Goebel R. , Hansen S. , Hammans W. 
Published: March 2007

AbstractWe report our cytogenetic experience of 1554 early amniocenteses between weeks 11 and 14 of gestation, of which 44 per cent were performed prior to week 14. The mean culture time was 14·5 days. Karyotyping was successful in 99·7 per cent of cases. In 9·9 per cent of cases, there was pseudomosaicism with a high rate of loss of an X‐chromosome and structural aberration of chromosome 1, which may be due to the Chang medium. The mosaic rate was 0·5 per cent. The overall aberration rate was 2·8 per cent. Our data confirm the reliability of early amniocentesis, which is a serious alternative to standard amniocentesis and chorionic villus sampling (CVS).
Prenatal diagnosis of femur‐fibula‐ulna complex by ultrasonography in a male fetus at 24 weeks of gestation
Authors: Capece G. , Fasolino A. , Monica M. Della , Lonardo F. , Scarano G. , Neri G. 
Published: March 2007

AbstractWe present a case of ultrasonographic prenatal diagnosis at 24 weeks of femur—fibula—ulna (FFU) complex. To our knowledge, this is the first report of an early prenatal diagnosis of FFU.
Prenatal ultrasonographic diagnosis of fetal cerebral ventriculitis associated with asymptomatic maternal cytomegalovirus infection
Authors: Achiron R. , Pinhas‐Hamiel O. , Lipitz S. , Heiman Z. , Reichman B. , Mashiach S. 
Published: March 2007

AbstractCytomegalovirus is the most common cause of congenital viral infection. In utero infection is usually suspected in patients with growth‐retarded fetuses or when maternal illness precipitates serological investigations. A case is presented where routine ultrasound examination at 30 weeks' gestation in an asymptomatic patient demonstrated mild fetal ventriculomegaly. Transvaginal ultrasound enabled the visualization of intraventricular adhesions and small periventricular cysts. The suspected diagnosis of in utero cytomegalovirus infection was confirmed by the presence of IgM antibodies in fetal blood and subsequently by isolation of the virus from the infant's urine. The presence of mild fetal ventriculomegaly should prompt transvaginal brain imaging.
Incremental cost‐effectiveness of incorporating oestriol evaluation in down syndrome screening programmes
Authors: Ganiats Theodore G. , Halverson Andrea L. , Bogart Mark H. 
Published: March 2007

AbstractAs screening for Down syndrome becomes increasingly sophisticated, it is important to evaluate the newer technologies in terms of their cost‐effectiveness. One recent addition to Down syndrome screening programmes is maternal serum unconjugated oestriol (uE3), especially when used in conjunction with maternal serum α‐fetoprotein and human chorionic gonadotropin. Using assumptions used in a California proposal to justify an expanded screening programme for Down syndrome, we calculated both the average and the incremental cost‐effectiveness of adding uE3. Using the base case assumptions, including an $8 fee for the uE3, the incremental cost‐effectiveness of adding uE3 to the proposed California programme is $119 100 per case detected, a value that compares favourably with other Down syndrome screening programmes. The sensitivity analysis supports this conclusion over a wide range of assumptions. However, because of the uncertainty with some key data, it is still too early to fully support the inclusion of uE3 in Down syndrome screening programmes.
Down's syndrome screening in multiple pregnancies using alpha‐fetoprotein and free beta hCG
Authors: Spencer K. , Salonen R. , Muller F. 
Published: March 2007

AbstractSecond‐trimester distributions of the free beta human chorionic gonadotrophin (hCG) and alpha‐fetoprotein (AFP) levels in 420 twin and 19 triplet pregnancies were measured and compared with the distributions in 6661 singleton pregnancies. On average, the levels of both analytes were twice as high in twins and over three times as high in triplets. Eight sets of twins discordant for Down's syndrome showed elevated levels of free beta hCG and reduced levels of AFP after correction of the multiple of the median for the presence of a twin pregnancy. Screening for Down's syndrome using the twin correction of the multiple of the median is expected to achieve a 51 per cent detection rate at a 5 per cent false‐positive rate using these two markers.
Early invasive prenatal diagnosis in HBsAg‐positive women
Authors: Grosheide P. M. , Quartero H. W. P. , Schalm S. W. , Heijtink R. A. , Christiaens G. C. M. L. 
Published: March 2007

AbstractFrom 1982 to 1989, pregnant women in two large city hospitals in The Netherlands had serum samples screened for hepatitis B surface antigen (HBsAg). Infants of mothers found to be HBsAg‐positive received hepatitis B immune globulin immediately after birth and hepatitis B vaccine in the first year of life. Blood samples of infants were regularly tested for HBsAg and antibodies directed against HBsAg. A retrospective analysis of the pregnancy outcome in HBsAg‐positive women who had invasive tests for prenatal diagnosis was carried out to determine whether amniocentesis and chorionic villus sampling (CVS) are risk factors for the intrauterine transmission of the hepatitis B virus. Amniocentesis was carried out in 17 HBsAg‐positive women and CVS in one case. Only two women were HBsAg‐ and HBeAg‐positive. Prenatal diagnosis led to the termination of pregnancy for fetal chromosome abnormality in three cases. The remaining 15 pregnancies were uneventful; all infants were negative for HBsAg and developed an active immune response to the vaccine. These data suggest that amniocentesis in HBsAg‐positive women constitutes a low risk for the intrauterine transmission of the hepatitis B virus, but definite conclusions in HBeAg‐positive women cannot be drawn.
True trisomy 15 mosaicism, detected by amniocentesis at 12 weeks of gestation and fetal echocardiography
Authors: Sundberg Karin , Brocks Vibeke , Jacobsen Joes Ramsøe , Beck Bjarne 
Published: March 2007

AbstractA case of mosaicism of trisomy 15, with two‐thirds of the cells trisomic, was detected at 12 weeks of gestation in amniotic fluid cell cultures obtained with the filtration technique. Ultrasound examination at 13 weeks showed a nodule protruding into the amniotic cavity which was speculated to be remnants of a co‐twin, causing the trisomic cell line. At 20 weeks of gestation, a malformation scan (level III) was normal, but supplementary fetal echocardiography revealed a severe cardiac defect (mitral atresia and a ventricular septal defect). Fetal lymphocytes obtained by cordocentesis showed trisomy 15 mosaicism, but only in 5 per cent of the mitoses. After termination, the same percentage of trisomy 15 mosaicism was found in cells from skin and tendon as in the original early amniocentesis. No sign of earlier twinning was found in the placenta or membranes. We conclude that mosaicism in early amniotic fluid obtained by the filter technique in this case reflected the true karyotype accurately and that supplementary echocardiography added significantly to the interpretation of the clinical implications.
Prenatal diagnosis of Sjögren‐Larsson syndrome using enzymatic methods
Authors: Rizzo William B. , Craft Debra A. , Kelson Todd L. , Bonnefont Jean‐Paul , Saudubray Jean‐Marie , Schulman Joseph D. , Black Susan H. , Tabsh Khalil , Dirocco Maja , Gardner R. J. McKinlay 
Published: March 2007

AbstractSjögren—Larsson syndrome (SLS) is an autosomal recessive disorder characterized by the presence of congenital ichthyosis, mental retardation, and spasticity. The primary biochemical defect in SLS has recently been identified to be a deficiency of fatty aldehyde dehydrogenase (FALDH), which is a component of fatty alcohol:NAD+ oxidoreductase (FAO). We monitored four pregnancies at risk for SLS by measuring FAO and FALDH in cultured amniocytes or cultured chorionic villus cells. The enzymatic results in one case using amniocytes obtained during the second trimester predicted an affected SLS fetus, which was confirmed at termination of the pregnancy. Another at‐risk fetus was predicted to be affected with SLS using cultured chorionic villus cells obtained in the first trimester, and fetal skin fibroblasts confirmed a profound deficiency of FAO and FALDH. Two other fetuses were correctly predicted to be unaffected. These results demonstrate that SLS can be diagnosed prenatally using enzymatic methods.
Confined placental mosaicism in CVS and pregnancy outcome
Authors: Roland Beth , Lynch Lauren , Berkowitz Gertrud , Zinberg Randi 
Published: March 2007

AbstractThe perinatal outcome of 26 patients with confined placental mosaicism (CPM) detected in chorionic villus sampling (CVS) who wished to continue their pregnancies was compared with that of two controls per patient matched for age and parity (n=52). There were no significant differences in birth weight or gestational age at delivery between patients with CPM and controls. There were no cases of intrauterine growth retardation (IUGR) in the CPM patients as compared with two (2/52, 3·8 per cent) in the control group (P>0·05). There was no significant increase in fetal loss between the study group (1/26, 3·6 per cent) and the controls (1/52, 1·9 per cent) (P>0·05).
Congenital nephrosis in low‐risk pregnancies
Authors: Ghidini Alessandro , Alvarez Manuel , Silverberg Gittel , Ainbender Eugene , Lockwood Charles J. 
Published: March 2007

AbstractCongenital nephrosis is an autosomal recessive disorder requiring neonatal renal transplant for survival. The postnatal diagnosis rests upon the electron microscopic evaluation of the epithelial foot processes and basal membrane of the glomeruli. The prenatal diagnosis can be suspected in the presence of a positive family history with an amniotic fluid (AF) alpha‐fetoprotein level greater than 5 standard deviations (SD) above the population mean accompanied by a negative AF acetylcholinesterase, absent haemoglobin F, and an unremarkable fetal sonographic examination. We reviewed our series of seven cases of congenital nephrosis fulfilling the above criteria; four cases had negative family histories, and in two cases the diagnosis of congenital nephrosis was further supported by the presence of elevated AF albumin concentrations. We conclude that (1) the prenatal diagnosis of congenital nephrosis is feasible in a low‐risk population, and (2) an elevated AF albumin concentration may represent an additional marker for the diagnosis of congenital nephrosis, even though false‐negative results have been reported.
Antenatal diagnosis of a congenital nasolacrimal duct cyst by ultrasonography: A case report
Authors: Alper Cuneyt M. , Chan Kenny H. , Hill Lyndon M. , Chenevey Paula 
Published: March 2007

AbstractWith proximal and distal obstruction to the lacrimal drainage system, mucus accumulates forming a cyst. In order to diagnose a nasolacrimal duct cyst antenatally, the sonographer must image the region adjacent to the orbits.
Do racial differences exist in second‐trimester maternal hCG levels? a study of 23 369 patients
Authors: Muller Françoise , Bussières Laurence , Pèlissier Marie‐Christine , Oury Jean‐François , Boué Claire , Uzan Serge , Boué André 
Published: March 2007

AbstractIn Down syndrome screening by maternal serum human chorionic gonadotropin (hCG) determination at 15, 16, 17, and 18 weeks of gestation, we prospectively examined 23 369 sera from white (21 549), North African (970), black African (525), and Asian (325) patients. When expressed as multiples of the median (MOM), no difference was observed between white, North African, and black African patients. However, higher serum hCG concentrations were noted in Asians, for whom we therefore recommend correction of hCG values before calculation of the risk of Down syndrome.
Prenatal diagnosis of congenital cystic adenomatoid malformation of the lung by fetal lung biopsy
Authors: Murotsuki Jun , Uehara Shigeki , Okamura Kunihiro , Yajima Akira , Murakami Kazuhiro 
Published: March 2007

AbstractA case of type III congenital cystic adenomatoid malformation of the lung was successfully diagnosed prenatally by fetal lung biopsy. We performed this procedure at 22 weeks of gestation, using a biopsy gun system under ultrasound guidance. The pregnancy was undisturbed by the procedure but as the condition was incompatible with life, an abortion was performed. The diagnosis was confirmed at post‐mortem examination. Fetal lung biopsy appears to be a useful method for prenatal diagnosis of fetal lung disorders.
Monosomy 8q: Prenatal diagnosis and autopsy findings
Authors: Ariel I. , Anteby E. , Soffer D. , Tobias M. , Yagel S. 
Published: March 2007

AbstractThe autopsy findings of a fetus with deletion of the long arm of chromosome 8 are described. Many of the features are similar to those of the tricho‐rhino‐phalangeal syndromes, types I and II, which are associated with deletions on chromosome 8q24. Other findings in this case, such as total absence of the corpus callosum and intestinal malrotation, have not been described in these syndromes. Genes involved in the development of the latter malformations may reside in adjacent regions on the long arm of chromosome 8. An elevated serum level of beta human chorionic gonadotropin (βhCG) was found during pregnancy. This aberration should be included with other chromosomal disorders which may be detected by this test.
The 48,XXYY syndrome: A case detected by maternal serum alpha‐fetoprotein screening
Authors: Nyberg Reita H. , Karhu Riitva , Karikoski Riitta , Simola Kalle O. J. 
Published: March 2007

AbstractA 17‐year‐old woman was referred for amniocentesis due to a low maternal serum alpha‐fetoprotein (AFP) concentration in a voluntary screening test. The fetal karyotype was 48,XXYY, and the pregnancy was terminated. Autopsy of the fetus disclosed agenesis of the corpus callosum and unusual facial features.
Results from a reference laboratory for prenatal diagnosis of sickle cell disorders in Cuba
Authors: Granda Hilda , Gispert Suzana , Martinez Gisela , Gomez Manuel , Ferreira Raul , Collazo Teresa , Magariño Carlos , Heredero Luis 
Published: March 2007

AbstractA nationwide programme for the prevention of sickle cell (SS and SC) disorders was initiated in Cuba in 1983. Couples at risk were identified by screening pregnant women and the partners of those who carry an abnormal haemoglobin, followed by genetic counselling and the offer of prenatal diagnosis. Prenatal diagnosis was performed in one laboratory, which had carried out 1068 prenatal tests for Hb SS and SC disorders by the end of 1992. The centralization of the service has permitted rapid identification and resolution of problems.
Isolated choroid plexus cysts—the need for routine offer of karyotyping
Authors: Walkinshaw Stephen , Pilling David , Spriggs Alan 
Published: March 2007

AbstractThe management of isolated fetal choroid plexus cysts remains controversial. We have prospectively studied 15 565 pregnancies at two large obstetric units for the presence of choroid plexus cysts. In all cases where cysts were present at 19 weeks' gestation or greater, and were multiple, bilateral or solitary and greater than 5 mm maximum diameter, women were offered amniocentesis or placental biopsy, irrespective of the presence or absence of other abnormalities. Choroid plexus cysts were present in 152 (0·98 per cent) of cases. Four cases (2·6 per cent) of autosomal trisomy (three of trisomy 18, one of trisomy 21) were detected on prenatal karyotyping. In all cases, choroid plexus cysts were the only detectable prenatal anomaly. This study and a review of other large studies do not support the view that isolated choroid plexus cysts are a benign variant, the risk of trisomy being 1 in 82. Until further evidence is available, we recommend that cases of isolated fetal choroid plexus cysts at 19 weeks' gestation or greater should be offered prenatal karyotyping.
Body stalk anomaly associated with maternal cocaine abuse
Authors: Martinez J. M. , Fortuny A. , Comas C. , Puerto B. , Borrell A. , Palacio M. , Coll O. 
Published: March 2007

AbstractA case of body stalk anomaly diagnosed prenatally by ultrasound during the 24th week of pregnancy in a cocaine abusing mother is presented. Accurate visualization of the fetal organs was difficult due to the severe oligohydramnios caused by premature rupture of membranes, probably related to the cocaine use. The sonographic findings were an omphalocoele, fetal attachment to the placenta, kyphoscoliosis, and absence of a floating umbilical cord. The prenatal diagnosis of the syndrome and the possible relationship with cocaine abuse are discussed.