bluuebunny/crossref_metadata_2025_split huggingface dataset:
Magnetic resonance imaging of the fetus: A study of 20 cases performed without curarization
Authors: Revel M. P. , Pons J. C. , Lelaidier C. , Fournet P. , Vial M. , Musset D. , Labrune M. , Frydman R. 
Published: March 2007

AbstractTwenty patients underwent magnetic resonance imaging (MRI) at a mean gestational age of 32 weeks. There were 12 patients with suspected fetal brain abnormality and four with intrauterine growth retardation (IUGR), while the remaining four cases were studied for other reasons. The MRI examinations were performed on a 0.5 Tesla machine, with surface coils. One minute acquisition time T1 sequences were used. All the studies were performed without fetal curarization, and only under maternal sedation using flunitrazepam given per os 1 h before MRI examination. Three examinations were incomplete because of fetal movement artefacts. In the remaining cases, MRI allowed the examination of fetal brain anatomy. In five cases, it helped to differentiate isolated hydrocephalus and corpus callosum agenesis. Sub‐ependymal nodules were depicted in a case of fetal tuberous sclerosis. One suspected arachnoid cyst was proved to be an ultrasound artefact. Decreased fetal fat on MR images was correlated with low birth weight in cases of IUGR. Due to its better spatial resolution, ultrasonography was more accurate for the diagnosis of facial and lumbar anomalies.Fetal MRI may be performed without curarization. Surface coils allow the detailed analysis of brain parenchyma, and thus MRI is especially useful in the difficult prenatal diagnosis of fetal brain abnormalities.
Cytogenetic analysis of 1375 amniotic fluid specimens from pregnancies with gestational age less than 14 weeks
Authors: Lockwood David H. , Neu Richard L. 
Published: March 2007

AbstractOur laboratory has received 1375 early amniotic fluid (EA) specimens during the past 5‐year period for cytogenetics analysis. The gestational ages of the EA specimens were less than 14 weeks as estimated by ultrasound. The average volume of specimen received was 16 ml. Specimens were typically received in two collection tubes and cultured in Chang A and in supplemented MEM media using the in situ technique. Of the 1375 EA specimens received, 1356 were successfully cultured and yielded results. Abnormal results were found in 67 (4.9 per cent) of the cases. Nineteen specimens (1.4 per cent) failed to yield a result. The mean turn‐around time (TAT) for all EA specimens was 8.28 days. In 1991, the average TAT for the EA specimens was 8.00 days compared with a TAT of 6.59 days for all specimens received over 14 weeks gestational age. The number of EA specimens received has increased from 1.5 per month in 1986 to 57 per month in 1991. In summary, our experience with EA specimens for cytogenetic analysis has demonstrated that the success rate is 98.6 per cent and that an increasing number of obstetricians are performing early amniocentesis as they seek to provide their patients with earlier results and an alternative to chorionic villus sampling.
Rapid detection of numerical aberrations of chromosomes 13, 18 and 21 in chorionic mesenchymal cells
Authors: Bryndorf Thue , Christensen Britta , Xiang Yang , Lind Anne‐Marie , Philip John 
Published: March 2007

AbstractWe have devised and evaluated a rapid screening method for the detection of numerical aberrations of chromosomes13, 18 and 21 in chorionic villus cells. We used non‐radioactive in situ hybridization (ISH) with three chromosome‐specific probes on overnight‐attached mesenchymal cells from chorionic villi. A blind study was performed of 47 karyotypically normal samples, one triploid sample, two samples trisomic for chromosome 21, and two samples from a fetus with putative mosaicism (46/47, +21). All samples were hybridized with the chromosome 18‐ and 21‐specific probes. Thirty samples were additionally hybridized with the chromosome 13‐specific probe. The test could be completed within 3‐4 days of sampling. In samples disomic with respect to the probed chromosomes, an average of 2 per cent (range 0‐9 per cent) had three hybridization signals. By contrast, in the samples trisomic for the probed chromosome(s), 57 per cent (chromosome 13), 51 per cent (chromosome 18), and an average of 74 per cent (55‐86 per cent) (chromosome 21) of the nuclei exhibited three signals. In the putative mosaic samples, the number of nuclei with three chromosome 21‐specific signals ranged from 41 to 69 per cent. We conclude that this technique rapidly and clearly distinguishes between normal and trisomic/triploid samples, and consequently may be of use in future prenatal diagnosis.
Fetal tissue involvement in the late infantile type of neuronal ceroid lipofuscinosis
Authors: Chow C. W. , Borg J. , Billson V. R. , Lake B. D. 
Published: March 2007

AbstractPrenatal diagnosis in a pregnancy at risk for late infantile neuronal ceroid lipofuscinosis (Batten's disease) was undertaken at 17 weeks' gestation by ultrastructural examination of amniotic fluid cells. The presence of curvilinear profiles indicated an affected fetus and the diagnosis was confirmed, after the pregnancy was terminated, by the finding of many typical curvilinear profiles in multiple tissues which included skin, amnion, umbilical vessels, blood, liver, and brain. Comparison between the involved cells in the amniotic fluid and fetal tissues suggests that these cells are probably derived from the periderm, and possibly also from the amnion. The prominent presence of cytosomes in the periderm and intermediate cells of the fetal epidermis and occasionally also in the endothelial cells of the dermis suggests that fetal skin may be a useful alternative site for assessing fetal involvement. Control specimens of the amniotic fluid, fetal skin, amnion, and liver showed no similar cytosomes. However, some control amniotic fluid samples did contain cells with large collections of irregular trilaminar membranes, and these could be open to misinterpretation. It is important that only typical curvilinear profiles are considered as an indication of an affected pregnancy.
Expanding multiple marker screening for Down's syndrome to include Edward'S syndrome
Authors: Barkai G. , Goldman B. , Ries L. , Chaki R. , Zer T. , Cuckle H. 
Published: March 2007

AbstractInformation on maternal age and maternal serum alpha‐fetoprotein, unconjugated oestriol (uE3), and human chorionic gonadotrophin (hCG) levels was used to investigate retrospectively the effect of estimating Edward's syndrome risk in women having multi‐marker screening for Down's syndrome. The screened population comprised 15 pregnancies affected by Edward's syndrome, 15 with Down's syndrome and 5472 unaffected pregnancies. The use of all three markers to estimate Edward's syndrome risk would have led to the detection of 10–12 (67–80 per cent) cases with a false‐positive rate of 0.3–0.6 per cent depending on the risk cut‐off. A further case would have been detected as a result of screening for Down's syndrome alone. Similar results were obtained when the Edward's syndrome risk was based on uE3 and hCG only. These data suggest that extending Down's syndrome screening to include Edward's syndrome risk will yield a high detection rate with only a small increase in the false‐positive rate.
The early diagnosis of neural tube defects
Authors: Blumenfeld Zeev , Siegler Ephraim , Bronshtein Moshe 
Published: March 2007

AbstractThe sonographic diagnosis of fetal neural tube defects (NTDs) has been enhanced by the recognition of associated brain and skull anomalies. Previous reports have found these anomalies to be accurate in predicting spina bifida after 16 weeks' gestation, and an inverse correlation was suggested between the presence of these sonographic markers and gestational age. Therefore, we assumed that early second‐trimester sonography would be at least as accurate as that performed after 16 weeks' gestation. To examine this hypothesis, we looked for the presence of these cranial sonographic markers suggestive of open NTDs in 8011 low‐risk cases, using transvaginal sonography (TVS), between the 12th and 17th week of gestation (menstrual age). Fetal NTDs were identified in ten cases (l.25%o). The NTDs were cervico‐cranial in three, lumbo‐sacral in six, and thoracal in one of the ten cases. None of the seven cases examined was dyskaryotic. Cerebellar dysmorphism, ‘banana’ sign, cerebellar absence, and hypoplasia were detected in all the low NTDs, usually before the detection of the spinal lesion. All the sonographically diagnosed malformations were confirmed by post‐abortal examination except in one case, where the patient decided to continue the pregnancy and refused follow‐up. We therefore conclude that transvaginal sonographic examination of the fetal skull before the 17th week of gestation is an accurate method for the detection of low NTDs.
Polymerase chain reaction analysis of the cystic fibrosis ΔF508 mutation in human blastomeres following oocyte injection of a single sperm from a carrier
Authors: Liu Jiaen , Lissens Willy , Devroey Paul , Van Steirteghem Andre , Liebaers Ingeborg 
Published: March 2007

AbstractThe efficiency of the polymerase chain reaction (PCR) in detecting the cystic fibrosis (CF) ΔF508 mutation (which is the most common mutation of CF) was assessed in single human blastomeres. Twenty‐one human immature oocytes (germinal‐vesicle‐stage oocytes) that had been donated for research were matured in vitro and a single spermatozoon from a carrier of the CF ΔF508 mutation was injected into the ooplasm. Fourteen embryos were obtained after intracytoplasmic sperm injection (ICSI). PCR analysis was carried out on 70 single blastomeres isolated from these 14 embryos. The results showed that the efficiency of DNA amplification by PCR in single nucleate blastomeres was 94 per cent (59/63). There were no false‐positive results since none of the blank samples or the blastomeres without a nucleus showed an amplified signal. We found that nine embryos were homozygous for the unaffected genotype and that four embryos were heterozygous since they contained both the unaffected and the ΔF508 genotype. In a four‐cell embryo, we observed the homozygous unaffected genotype in one blastomere and a heterozygous ΔF508/unaffected genotype in the other three blastomeres.
Familial congenital diaphragmatic hernia: Prenatal diagnosis, management, and outcome
Authors: Narayan Harini , De Chazal Richard , Barrow Margaret , McKeever Patricia , Neale Edmund 
Published: March 2007

AbstractCongenital diaphragmatic hernia (CDH) is a developmental defect of as yet unknown aetiology which accounts for 8 per cent of all major congenital anomalies and is associated with up to 80 per cent mortality despite optimal postnatal treatment. The risk of recurrence of CDH for future sibs after one affected infant is about 2 per cent. A multifactorial/threshold inheritance pattern with an observed high male:female sex ratio is currently favoured for the rare occurrence of familial CDH, although other modes of inheritance have also been described. We report three cases of familial CDH, two of whom were brother and sister sibs and the third was a first cousin, born within 18 months of each other. The diagnosis was by ultrasound and there were several factors predicting a poor outcome. The mortality in this group was 100 per cent. The prenatal diagnosis, treatment options, the unusual genetic aspects, outcome, and the pathology involved are discussed.
Serum PAPP‐A measurements in first‐trimester screening for Down syndrome
Authors: Hurley P. A. , Ward R. H. T. , Teisner B. , Iles R. K. , Lucas M. , Grudzinskas J. G. 
Published: March 2007

AbstractSerum PAPP‐A measurements taken from 254 women in the first trimester are reported. Eleven chromosomal abnormalities were detected. The mean serum PAPP‐A levels in cases of Down syndrome were 0.44 MOM at 9 weeks gestation, 0.15 MOM at 10 weeks, and 0.29 MOM at 11 weeks. The PAPP‐A level at 10 weeks was below those of pregnancies which aborted spontaneously. At 11 weeks, the pregnancies with Down syndrome recorded the lowest PAPP‐A levels at that gestation. On this small sample, offering chorionic villus sampling to women with singleton pregnancies and a PAPP‐A level below 0.3 MOM (approximately 6.5 per cent of this at‐risk group) would have detected all the Down syndrome fetuses at 10 weeks and 50 per cent at 11 weeks without selecting those cases destined to abort. This suggests that serum PAPP‐A should continue to be investigated as a potential first‐trimester screening test for Down syndrome.
Preaxial ray reduction defects as part of valproic acid embryofetopathy
Authors: Sharony Reuven , Garber Ann , Viskochil David , Schreck Rhona , Platt Lawrence D. , Ward Robert , Buehler Bruce A. , Graham John M. 
Published: March 2007

AbstractIt is well known that prenatal exposure of valproic acid (VPA) may be associated with the occurrence of neural tube defects (Robert and Gibaud, 1982). Additional adverse effects related to VPA exposure include craniofacial abnormalities, skeletal defects, brain defects, cardiovascular defects, and urogenital defects (DiLiberti et al, 1984; Winter et al, 1987; Huot et al, 1987; Jager‐Roman et al, 1986; Martinez‐Frias, 1990). Recently, radial ray reduction has been reported as a severe type of skeletal defect associated with VPA exposure (Jager‐Roman et al, 1986; Huot et al, 1987; Verloes et al, 1990). We report two additional cases of this severe limb reduction defect as part of a broader pattern of altered morphogenesis in fetuses exposed to VPA and to confirm an association between such severe specific skeletal defects and VPA exposure. We briefly review teratologic studies in experimental animals which document the biologic plausibility of this association, and suggest that fetuses exposed to VPA undergo detailed prenatal ultrasonographic evaluation of the limbs.
Randomized trial comparing first‐trimester transcervical chorionic villus sampling and second‐trimester amniocentesis
Authors: Ämmälä Pirkko , Hiilesmaa Vilho K. , Liukkonen Sirkka , Saisto Terhi , Teramo Kari , Koskull Harriet Von 
Published: March 2007

AbstractA total of 800 patients were randomized at the 9th to 11th week of pregnancy either for transcervical chorionic villus sampling (CVS) on the day of trial entry or for amniocentesis (AC) at the 16th week. The indication for fetal karyotyping was maternal age in 94 per cent of the cases; the mean maternal age was 39.2 years. An adequate sample was obtained in 98.3 per cent of the cases in the CVS group and in all cases in the AC group. Retesting was indicated in 3.3 per cent of the CVS cases. An abnormal karyotype was found in 6.1 per cent of the CV samples and in 4.5 per cent of the amniotic fluid samples. There was one false‐positive chromosome result in both groups. Twelve (3.1 per cent) miscarriages occurred by the 22nd week of pregnancy in the CVS group in pregnancies intended to continue. No difference was seen between the groups for total fetal loss rates. The number of surviving infants in the CVS group was 92.2 per cent and in the AC group 91.7 per cent (rate difference 0.5 per cent (95 per cent confidence interval − 3.3 to 4.3)). In our study, both the diagnostic accuracy and the risk of fetal loss were equal in the CVS and AC groups.
Oral teratoma (epignathus) with intracranial extension: A report of two cases
Authors: Smith N. M. , Chambers S. E. , Billson V. R. , Laing I. , West C. P. , Bell J. E. 
Published: March 2007

AbstractEpignathi are unusual congenital tumours presenting as oropharyngeal masses, often resulting in rapid asphyxia following birth. Occasionally, intracranial extension of the tumour is present, and two such cases are described. The presence of this complication, diagnosable by ultrasound examination, indicates that aggressive surgical treatment is inappropriate.
Cleft palate: Confirmation of prenatal diagnosis by colour Doppler ultrasound
Authors: Sherer David M. , Abramowicz Jacques S. , Jaffe Richard , Woods James R. 
Published: March 2007

AbstractWe present a case of a twin with trisomy 47,XX+i(9p) in whom the diagnosis of cleft palate was confirmed by colour Doppler imaging demonstrating abnormal fluid flow across the fetal pharyngeal bone defect. Application of this technique in cases predisposed for this congenital lesion may prove beneficial in the diagnosis of the more subtle types of isolated cleft palate.
Rapid prenatal diagnosis of Patau's syndrome in a fetus with an abdominal wall defect by 72 hour culture of cells from amniotic fluid
Authors: Roberts Selwyn H. , Little Elizabeth , Vaughan Merle , Creasy Michael R. , Jones Anthony , Powell Teyrnon G. , Dawson Andrew J. 
Published: March 2007

AbstractA woman in the 32nd week of pregnancy was referred for investigation because of fetal abnormalities, including an abdominal wall defect, detected by ultrasonography. In view of the increased risk of chromosome abnormality, amniocentesis was performed to enable informed decisions about the management of the pregnancy and delivery to be taken. Cells from the liquor were inoculated into standard lymphocyte culture medium and incubated for 72 h. Slides with a high mitotic index and good quality metaphases, comparable to those from a blood culture, were obtained after harvesting. Cytogenetic analysis showed the karyotype to be 46,XY,—14,+t(13ql4q), which is consistent with Patau's syndrome. This technique appears to be an option for rapid karyotyping in cases of abdominal wall defect, where a chromosomal abnormality is suspected.
Prenatal diagnosis of a fetus with partial monosomy 7(q34→qter) and partial trisomy 18(q21→qter)
Authors: Pluchon E. , Giovangrandi Y. , Labbe F. , Le Bris M. J. , Collet M. , Brettes J. P. , Riviere D. , Riviere M. R. 
Published: March 2007

AbstractUltrasound examination of a 31‐year‐old woman at 27 weeks' gestation revealed fetal growth retardation, a bilateral cleft lip and palate, and the absence of median cerebral structures. Chromosome analysis after cordocentesis showed an abnormal karyotype with a structural abnormality of the long arm of chromosome 7: 46,XX,—7,+der(7), t(7;18) (q34;q21.3)mat. The pregnancy was terminated at week 29. The ultrasound findings were confirmed by post‐mortem examination, which also revealed a semilobar holoprosencephaly.
Doppler echocardiographic diagnosis of intrauterine closure of the ductus arteriosus
Authors: Chao Rong‐Chieh , Ho Esther Shih‐Chu , Hseeh Kai‐Sheng 
Published: March 2007

AbstractA case of in utero closure of the ductus arteriosus was detected by Doppler echocardio‐graphy at 31 weeks of gestation. It presented as a non‐hydropic distressed fetus with ultrasound detection of tricuspid regurgitation. Pulsed Doppler ultrasound showed markedly decreased blood flow through the tricuspid and pulmonary valves and absent blood flow at the ductus arteriosus. These, as well as the resultant increased right‐to‐left shunting across the foramen ovale, were reaffirmed by colour flow mapping.
Prenatal diagnosis of anatomical connections in conjoined twins by use of contrast magnetic resonance imaging
Authors: Zoppini Cinzia , Vanzulli Angelo , Kustermann Alessandra , Rizzuti Tommaso , Selicorni Angelo , Nicolini Umberto 
Published: March 2007

AbstractOmphalopagus conjoined twins were diagnosed by ultrasonography in a pregnant woman at 21 weeks' gestation. In order to clarify the anatomical connections, magnetic resonance imaging (MRI) was performed, having achieved fetal paralysis by intravascular injection of 100 mg of pancuronium into each twin. Prior to MRI, 2 ml of a 0.0001 mmol/ml solution of gadolinium DTPA was also injected into the stomach of one twin. The contrast agent opacified the bowel loops of both twins, indicating bowel to bowel anastomosis. Following pregnancy termination, autopsy confirmed the prenatal diagnosis.
Prenatal diagnosis of trisomy 9 mosaicism: Two new cases
Authors: Merino A. , De Perdigo A. , Nombalais F. , Yvinec M. , Le Roux M. G. , Bellec V. 
Published: March 2007

AbstractWe present two prenatal cases of trisomy 9 mosaicism, both of which presented intrauterine growth retardation (IUGR) and other abnormal ultrasound findings. In case A, mosaicism was found in amniotic fluid cell cultures, of which 65 per cent were trisomic cells, on average. In case B, trisomic cells were present in amniotic fluid cell cultures (12 per cent) but none were found in fetal cord blood. After autopsy, cytogenetic findings were confirmed in different tissue cultures. It is concluded that echographic indicators are a very useful tool for a correct prenatal diagnostic interpretation of trisomy 9. Suspected trisomy 9 mosaicism always requires further investigation and fetal cord blood cytogenetic analysis may not be considered as providing an accurate diagnosis of fetal trisomy 9.
Fetal akinesia/hypokinesia sequence: Prenatal diagnosis and intra‐familial variability
Authors: Bacino Carlos A. , Platt Lawrence D. , Garber Ann , Carlson Dru , Pepkowitz Samuel , Lachman Ralph S. , Sharony Reuven , Rimoin David L. , Graham John M. 
Published: March 2007

AbstractIntrauterine fetal movement plays a key role in normal embryonic and fetal development (Moessinger, 1983). When movement is absent or decreased, abnormal development takes place which can be appreciated in newborns and/or fetuses with the fetal akinesia/ hypokinesia sequence. This sequence is caused by a number of heterogeneous entities which result in decreased fetal movements by the action of intrinsic or extrinsic factors. Prenatal diagnosis of the akinesia/hypokinesia sequence may be possible during the second trimester through the use of real‐time ultrasonographic evaluation of fetal movement. We report a family with three consecutive affected pregnancies in which the prenatal presentation of this sequence varied. Based on the phenotypic findings of the three affected fetuses, we believe that although they superficially resemble those features found in the New–Laxova syndrome, they are probably affected with a distinctly different lethal form of akinesia/ hypokinesia transmitted in an autosomal recessive fashion.
Prenatal diagnosis of congenital cytomegalovirus infection: False‐negative amniocentesis at 20 weeks' gestation
Authors: Catanzarite Val , Dankner Wayne M. 
Published: March 2007

AbstractCytomegalovirus (CMV) is the most common cause of congenital infection. Recent studies show amniocentesis to be a 100 per cent sensitive and 100 per cent specific predictor of congenital infection, and recommend that it be offered in the at‐risk pregnancy. However, these publications have focused on pregnancies at or beyond 22 weeks' gestation. Here, we report a case of maternal CMV hepatitis at 7–8 weeks' gestation, in which culture and polymerase chain reaction testing for CMV in amniotic fluid at 20 weeks' gestation were negative, but the infant had a positive CMV urine culture shortly after delivery. Implications for the prenatal diagnosis of CMV infection are discussed.
DNA confirmation of congenital myotonic dystrophy in non‐immune hydrops fetalis
Authors: Stratton Robert F. , Patterson Robert M. 
Published: March 2007

AbstractWe report on the prenatal diagnosis of congenital myotonic dystrophy in a case of nonimmune hydrops fetalis. DNA analysis of amniocytes revealed expansion of the trinucleotide (CTG) repeat within the myotonin PK gene, associated with myotonic dystrophy. The fetus was found to have approximately 1730 copies, while the normal population has between 5 and 27 copies, and minimally affected individuals have at least 50 copies.