bluuebunny/crossref_metadata_2025_split huggingface dataset:
Analysis of maternal serum alpha‐fetoprotein and free beta human chorionic gonadotrophin in the first trimester: Implications for down's syndrome screening
Authors: Berry Esther , Aitken David A. , Crossley Jennifer A. , Macri James N. , Michael Connor J. 
Published: March 2007

AbstractThe aim of this study was to determine the maternal population, pregnancy, serum alpha‐fetoprotein (AFP) and free β subunit of human chorionic gonadotrophin (FβhCG) parameters in a large series of women attending prenatal clinics before 15 weeks' gestation and to assess the practical problems of population screening for Down's syndrome in the first trimester using these markers. Serum samples were collected from 8600 women attending prenatal clinic booking visits. Maternal serum AFP and FβhCG medians were calculated for each day of gestation (49–104 days), using both dates and ultrasound estimates of gestation. The effects of maternal weight, twin pregnancies, and threatened abortion on AFP and FβhCG levels were analysed. The median age of the population was 27.1 years and the median weight 62.1 kg. Twenty‐six per cent of samples were collected before 70 days and 50 per cent before 78 days' gestation. Eighty‐nine per cent of all samples had gestational estimates by dates, 60 per cent by ultrasound and 52 per cent by both dates and ultrasound. The AFP median was 5 kU/1 at 49 days, 5.9 kU/1 at 70 days, and 17.9 kU/1 at 100 days. The peak median FβhCG level was 66.4 ng/ml at 64 days, falling to 20.6 ng/ml at 100 days' gestation. Both AFP and FβhCG levels showed log Gaussian distributions but the standard deviation for AFP was 20 per cent greater than that found in the second trimester. AFP and FβhCG levels showed an inverse relationship with maternal weight and were increased in twin pregnancies (1.68 and 1.97 multiples of the median, respectively). AFP and FβhCG can be readily measured in a large screening population in the first trimester. Down's syndrome screening protocols based on these markers could be refined by the use of gestations in individual days but AFP is likely to be a less effective marker and detection rates are likely to be lower than in the second trimester. To realize the potential of first‐trimester screening, more women should be encouraged to attend the prenatal clinic in early pregnancy and ultrasound dating should be carried out for all pregnancies at this stage.
Amniotic fluid analysis in a fetus with laryngeal atresia
Authors: Watson William J. , Munson David P. 
Published: March 2007

AbstractComplete laryngeal atresia is a rare congenital malformation that is known to cause hypertrophy of the fetal lung in utero. A fetus with laryngeal atresia was found to have markedly immature amniotic fluid lung maturity studies at term. Inappropriately low amniotic fluid lung maturity studies may be an important clue to the diagnosis of this condition.
Demonstration of spontaneously dividing male fetal cells in maternal blood by negative magnetic cell sorting and fish
Authors: Zheng Yun‐Ling , Craigo Sabrina D. , Price Cathy M. , Bianchi Diana W. 
Published: March 2007

AbstractWe investigated a case of massive feto‐maternal bleeding by using negative magnetic cell sorting (MACS) and fluorescent in situ hybridization (FISH). A 37‐year‐old pregnant woman had an uncomplicated amniocentesis for advanced maternal age at 16 weeks' gestation. The fetal karyotype was 46, XY. At 19 weeks' gestation, she had a minor car accident and slight vaginal bleeding. A subsequent Kleihauer‐Betke test showed a 140 ml feto‐maternal haemorrhage. Serial sonographic examinations indicated a normal fetus and placenta. We performed FISH analysis on maternal peripheral blood at 25 weeks. Anti‐CD45 and MACS were used to deplete maternal leucocytes, enriching the proportion of fetal nucleated erythrocytes present. The isolated cells were analysed by using dual‐colour FISH with X and Y specific probes. Approximately 65 800 nucleated cells were obtained after MACS depletion. A total of 234 cells were analysed by FISH. The results revealed that 70 of the nucleated cells (30 per cent) were male with one X and one Y signal. Among these cells, six male metaphases were observed in spontaneously dividing cells.
Uniparental isodisomy for chromosome 16 in a growth‐retarded infant with congenital heart disease
Authors: Whiteford M. L. , Coutts J. , Al‐Roomi L. , Mather A. , Lowther G. , Cooke A. , Vaughan J. I. , Moore G. E. , Tolmie J. L. 
Published: March 2007

AbstractWe report a growth‐retarded infant with congenital heart disease and maternal isodisomy for chromosome 16. Non‐mosaic trisomy 16 was detected at mid‐trimester chorionic villus sampling, performed because biochemical screening indicated an increased Down's syndrome risk. Further karyotyping analysis of the placenta, after delivery, showed a 50 per cent mosaic trisomy 16. The infant had an atrioventricular (A‐V) canal defect, scoliosis, and several minor dysmorphic features. Although uniparental disomy for chromosome 16 has been reported previously, to our knowledge this is the first case of uniparental isodisomy for chromosome 16 which has been investigated with multiple DNA probes.
Prenatal diagnosis of GM2‐gangliosidosis B1 variant
Authors: Lemos M. , Pinto R. , Ribeiro G. , Ribeiro H. , Lopes L. , Miranda M. C. Sá 
Published: March 2007

AbstractPrenatal diagnosis in a pregnancy at risk for a juvenile B1 variant of GM2‐gangliosidosis was carried out. The biochemical study of the cultured amniocytes and the affected fetal brain is reported. The results obtained show that the sulphated artificial substrate can be used in the diagnosis of B1 variant, but not the neutral one. The accumulation of GM2‐ganglioside in the fetal brain of the B1 juvenile form and an infantile form of GM2‐gangliosidosis (0 variant) was compared.
In utero diagnosis and treatment of fetal goitrous hypothyroidism, caused by maternal use of propylthiouracil
Authors: Van Loon Aren J. , Derksen Joke Th. M. , Bos Arie F. , Rouw Catrienus W. 
Published: March 2007

AbstractA fetal goitre is a potentially dangerous phenomenon because of mechanical obstruction and possible fetal thyroid function disorders. In this report we describe a patient with Graves' disease diagnosed in early pregnancy and treated with propylthiouracil, which resulted in a large fetal goitre and fetal hypothyroidism. The diagnostic problems are discussed and we focus on the need for fetal thyroid hormone serum evaluation. The only reliable way to obtain information about the fetal thyroid status is percutaneous fetal umbilical cord blood sampling, since amniotic fluid levels do not properly represent the fetal thyroid function. Fetal hypothyroidism can thus be diagnosed in utero and treated with intra‐amniotic injections of thyroxine. The recommended dose and frequency of injections are only based on a few case reports and for that reason we performed a second fetal blood sampling 1 week later to evaluate our therapy. Weekly intra‐amniotic injections of 250 μg of thyroxine seem to be sufficient to reduce a fetal goitre and give a normal thyroid hormone level.
Maternal platelet size as a marker for fetal trisomies 18 and 13
Authors: Thilaganathan Baskaran , Meher‐Homji Nilaofer J. , Nicolaides Kypros H. 
Published: March 2007

AbstractMaternal and fetal platelet size and glycoprotein expression were measured in 14 pregnancies complicated by fetal aneuploidy between 20 and 24 weeks' gestation. Flow cytometry was used to determine platelet size and surface glycoprotein Ib (GPIb) and GPIIIa expression both before and after stimulation with adenosine diphosphate (ADP). The data were compared with results obtained from 35 normal paired maternal and fetal controls. In fetuses affected with trisomies 18 and 13, but not trisomy 21, the maternal and fetal platelet sizes were significantly higher than those of the normal controls. Furthermore, the increase in fetal platelet size was significantly associated with the increase in maternal platelet size. Increase in maternal platelet size may be of potential value as a marker for fetal trisomies 18 and 13.
Alpha‐fetoprotein and acetylcholinesterase activity in first‐and early second‐trimester amniotic fluid
Authors: Stener Jørgensen Finn , Sundberg Karin , Loft Anne Gitte Rasmussen , Arends Jørgen , Nørgaard‐Pedersen Bent 
Published: March 2007

AbstractNormal ranges of amniotic fluid alpha‐fetoprotein (AFP) and acetylcholinesterase activity (AChE) are described for gestational weeks 11–14 using rocket gel immunoelectrophoresis for AFP quantitation and a monoclonal antibody (4F19) enzyme antigen immunoassay for AChE activity measurement. The normal ranges were established by the examination of 281 amniotic fluid samples from 281 normal pregnancies. AFP was found to increase from a median level of 14.0 MIU/1 at 11 weeks to a maximum at 13 weeks (median=18.0 MIU/l) (P<0.05), thereafter falling (not significant). No AChE test result exceeded 4.8 nkat/l. In addition, AFP and AChE values for three cases of fetal malformation, identified by the biochemical analyses of amniotic fluid, are given. These cases included two fetuses with a neural tube defect and one fetus with an abdominal wall defect. Amniocentesis was performed at 10, 11, and 14 weeks, respectively. The AFP and AChE values were all high.
The significance of early second‐trimester sonographic detection of minor fetal renal anomalies
Authors: Bronshtein Moshe , Bar‐Hava Itai , Lightman Abraham 
Published: March 2007

AbstractA study of 6350 consecutive transvaginal ultrasound examinations was performed as part of a routine fetal evaluation. Twenty‐one cases (0.33 per cent) of early second‐trimester sonographic detection of minor renal abnormalities (unilateral renal agenesis, pelvic kidney, and double collecting system) are presented. The sonographic diagnosis was made at 14–18 weeks of pregnancy and confirmed, in all of the 21 fetuses, postnatally or by post‐mortem. A high incidence of associated fetal anomalies (24 per cent) and parental renal abnormalities (14 per cent) was demonstrated. Transvaginal sonography was found to be a useful tool for diagnosing these renal anomalies as early as 14 weeks of pregnancy. The likelihood of various associated anomalies and long‐term implications on renal function raise questions concerning the prenatal management of such patients.
Prenatal findings in generalized amyoplasia
Authors: Sepulveda Waldo , Stagiannis Konstantinos D. , Cox Phillip M. , Wigglesworth Jonathan S. , Fisk Nicholas M. 
Published: March 2007

AbstractAmyoplasia is a rare, sporadic condition characterized by different degrees of maldevelopment of the skeletal muscles, which are replaced by fibrous and fatty tissue. In this report, we present a case of generalized amyoplasia presenting at 19 weeks' gestation. The most striking finding was the absence of fetal movements, resulting in severe multiple congenital contractures, hydrops, and polyhydramnios. At autopsy, histological examination of the skeletal muscle showed small groups of poorly developed fibres within areas of fat. This report suggests that generalized amyoplasia could be a common cause of severe forms of multiple congenital contractures, but is probably underdiagnosed at post‐mortem because of inadequate examination of muscles. Definitive diagnosis is important in determining the risks of recurrence in these cases.
Prenatal analysis of the insulin receptor gene in a family with leprechaunism
Authors: Krook A. , Bell J. A. , Robertson M. E. , Brueton L. , O'Rahilly S. 
Published: March 2007

AbstractWe report on the prenatal diagnosis of a fetus at risk of leprechaunism. We had previously determined the nature of the causative mutation in the insulin receptor gene in this family. The mutation removes a restriction site for the enzyme Mbo II. Genomic DNA was extracted from a chorionic villus sample and the 3′ half of exon 2 was amplified by the polymerase chain reaction (PCR) followed by restriction digest. Using this method, we correctly predicted an unaffected child.
Carrier detection of duchenne muscular dystrophy through analysis of dna from deciduous teeth of a dead affected child
Authors: Restagno Gabriella , Ferrone Marina , Doriguzzi Carlo , Palmucci Laura , Mongini Tiziana , Carbonara Angelo 
Published: March 2007

AbstractThe sister of a child affected by Duchenne muscular dystrophy (DMD) was referred for genetic counselling to assess the risk of her being a carrier. Her brother had died 15 years previously at the age of 8. There were no other affected males in the family. There were no methods for DNA investigation at the time of the child's death and the family had never been studied for linkage with polymorphic probes on the chromosomal region Xp21. The only tissue from which an assessment of the risk could be made by DNA linkage analysis was two of the child's deciduous teeth that the parents had kept. DNA was extracted using a protocol described for the recovery of ancient DNA from museum specimens and archaeological finds. Multiplex amplification did not reveal deletions in 19 exons spanning the hot‐spot regions for deletions within the dystrophin gene in Xp21. Linkage analysis using three highly polymorphic microsatellites demonstrated that the sister had not received the X chromosome borne by her brother. These results show that DNA extracted from teeth is a reliable source for molecular diagnosis.
Crown—rump length in aneuploid fetuses: Implications for first‐trimester biochemical screening for aneuploidies
Authors: Macintosh M. C. M. , Brambati B. , Chard T. , Grudzinskas J. G. 
Published: March 2007

AbstractThis study examined the effect of estimation of gestational age from the menstrual history compared with that from crown—rump length (CRL) measurement on the detection rate of screening for aneuploidies in the first trimester. Pregnancy‐associated plasma protein A (PAPP‐A) was assayed in blood collected prior to chorionic villus sampling in 356 women with unaffected pregnancies and 28 women with an aneuploid pregnancy. There were 14 Down's syndrome (DS) pregnancies. All pregnancies were dated from menstrual history and CRL measurement. The average CRL gestation in the aneuploid population was 2.5 days less than that derived from the LMP (95 per cent confidence interval (CI) for LMP—CRL gestation: using the algorithm based on unaffected pregnancies 0–3.5 days; using the matched case—control approach 1–4.5 days). The average CRL gestation in the DS population was 2 days less but this did not reach statistical significance (95 per cent CI for LMP—CRL gestation: using the algorithm — 1 to 4.5 days; using the matched case—control approach 0 to 5.5 days). The detection rate of aneuploidies in the first trimester using maternal serum PAPP‐A was reduced by 7 per cent (and by 3 per cent for DS) for a 5 per cent false‐positive rate when using CRL rather than LMP to date the pregnancy. This phenomenon is a consequence of an apparent reduction of gestational age when estimated by CRL in the aneuploid population. Further studies are required to evaluate whether CRL is an unbiased estimate of gestation for Down's syndrome pregnancies.
A chromosome 21‐specific cosmid cocktail for the detection of chromosome 21 aberrations in interphase nuclei
Authors: Van Opstal Diane , Van Hemel Jan O. , Eussen Bert H. J. , Van Der Heide Annet , Van Den Berg Cardi , Veld Peter A. In't , Los Frans J. 
Published: March 2007

AbstractFluorescent in situ hybridization (FISH) with a 21q11‐specific probe (CB21c1) consisting of three non‐overlapping cosmids has been applied to interphase amniocytes of pregnancies at increased risk for fetal aneuploidy (N = 78) and to interphase lymphocytes, cultured and uncultured, of patients referred for Down syndrome (N = 19 and 28, respectively). In the uncultured amniocytes, six chromosome aberrations were detected: three cases of trisomy 21, a triploidy, a de novo 46,XX,t(21q21q), and a mosaic 46,XY/47,XY,+dic(21)(q11)/48,XY,+dic(21)(q11), +del(21)(q11). In 15 cultured and 20 uncultured blood samples, FISH correctly diagnosed trisomy 21 (full or mosaic) at the interphase level, which was confirmed in all cases by subsequent karyotyping. Because of specific and strong signals in interphase nuclei, CB21c1 appears to be a useful tool for the rapid detection of chromosome 21 abnormalities.
Molecular prenatal diagnosis of 3‐hydroxy−3‐methylglutaryl coa lyase deficiency
Authors: Mitchell Grant A. , Jakobs Cornelis , Gebson K. Michael , Robert Marie‐France , Burlina Alberto , Dionisi‐Vici Carlo , Dallaire Louis 
Published: March 2007

AbstractWe report the first molecular prenatal diagnosis of 3‐hydroxy‐3‐methylglutaryl CoA lyase (HL) deficiency. The proband had a classic but severe presentation with hypoketotic hypoglycaemia and acidosis, secondary mental retardation, and epilepsy, and HL deficiency was documented in cultured fibroblasts. We found him to be homozygous for the frameshift mutation N46fs (+1), which yields a distinct pattern on single‐strand conformation polymorphism (SSCP) analysis. In two subsequent pregnancies, molecular prenatal diagnosis was performed using SSCP. In the first, chorionic villus biopsy was normal. In the second pregnancy, amniocentesis revealed an affected fetus. In both pregnancies, the diagnosis was confirmed enzymatically. HL activity was less than 7 per cent of control values in amniocytes and fetal liver of the affected pregnancy. In the second pregnancy, amniotic fluid metabolite measurements by stable isotope dilution‐selected ion monitoring mass spectrometry showed greater than 100‐fold increases of 3‐hydroxy‐3‐methylglutaric acid and of 3‐methylglutaconic acid levels compared with controls.
Second‐trimester levels of maternal urinary gonadotropin peptide in down syndrome pregnancy
Authors: Canick Jacob A. , Kellner Leonard H. , Saller Devereux N. , Palomaki Glenn E. , Walker Roger P. , Osathanondh Rapin 
Published: March 2007

AbstractUrinary gonadotropin peptide (UGP; β‐core fragment), a major metabolite of human chorionic gonadotropin (hCG), was shown recently to be markedly elevated in Down syndrome pregnancy between 19 and 22 weeks of gestation. To confirm and extend this finding, we obtained maternal urine and matching maternal serum samples from 14 cases of Down syndrome and six other aneuploidies between 17 and 21 weeks of gestation. UGP was measured in all these samples and in 91 singleton control urines. Results were corrected for urinary creatinine level and expressed as multiples of the control median (MOM). hCG levels were assayed in all serum samples from the cases and compared with previously established reference values. The median UGP level in Down syndrome cases was 5.34 MOM (range 2.71–12.57); 88 per cent of the values were above the 95th centile of control levels after modelling. The median maternal serum hCG level for the same cases was 2.20 MOM (range 0.84–3.40); 36 per cent of the values were above the 95th centile. The level of UGP in every case including all other aneuploidies was higher than the comparable maternal serum hCG level. Elevated UGP measurements are strongly associated with fetal Down syndrome during the second trimester and could contribute to improved Down syndrome screening protocols that are more accessible and less expensive than are currently available.
Urinary multiple marker screening for down's syndrome
Authors: Cuckle H. S. , Iles R. K. , Sehmi I. K. , Chard T. , Oakey R. E. , Davies S. , Ind T. 
Published: March 2007

AbstractWe have examined the possibility of using multiple markers in maternal urine rather than serum in order to screen for Down's syndrome. Urine samples were available from 36 cases (24 Down's syndrome, five Edwards' syndrome, three Turner's syndrome, one Klinefelter's syndrome, one triploidy, one triple‐X, one twin discordant for Down's syndrome) and 294 controls, including three twins. Three markers were tested: the β‐core fragment of human chorionic gonadotrophin (hCG), total oestrogen (tE) and the free a subunit of hCG. Levels were corrected for creatinine excretion and expressed as multiples of the gestation‐specific median (MOM) level from the singleton controls. The median value for the singleton Down's syndrome cases was 6.02, 0.74, and 1.08 MOM for β‐core‐hCG, tE, and a‐hCG, respectively. The increases in β‐core‐hCG and the reduction in tE levels were highly significant (P<0.0001 and 0.005, respectively; Wilcoxon rank sum test) but the increase in free a‐hCG was not (P=0.40). On the basis of a mathematical model, the expected detection rate for a 5 per cent false‐positive rate was 79.6 per cent for β‐core‐hCG alone, which increased to 82.3 per cent when combined with tE. Aneuploidies other than Down's syndrome were characterized by low levels of tE and either low or high β‐core‐hCG.
Prenatal diagnosis of metatropic dwarfism
Authors: Manouvrier‐Hanu S. , Devisme L. , Zelasko M. C. , Bourgeot Ph. , Vincent‐Delorme C. , Valat‐Rigot A. S. , Puech F. , Farriaux J. P. 
Published: March 2007

AbstractWe present a case of prenatal diagnosis of severe metatropic dysplasia at 20 weeks' gestation. The characteristic prenatal features of this rare autosomal recessive chondrodysplasia appear to be significant dwarfism with an enlarged head and a narrow thorax associated with enlargement of the hands and feet, and the radiographic ‘dumb‐bell’ appearance of the long bones.
Apparent segregation of null alleles ascribed to deletions of the ornithine transcarbamylase gene in congenital hyperammonaemia
Authors: Segues Bertrand , Rozet Jean‐Michel , Gilbert Brigitte , Saugier‐Veber Pascale , Rabier Daniel , Saudubray Jean‐Marie , Carré Mireille , Rouleau Françoise Parrot , Menget Alain , Bonardi Jean‐Michel , Lyonnet Stanislas , Bonnefont Jean‐Paul , Munnich Arnold 
Published: March 2007

AbstractOrnithine transcarbamylase (OTC) deficiency is an X‐linked disorder of the urea cycle mapped to chromosome Xp21.1. Here, we show that apparent segregation of null alleles at the OTC locus and flanking polymorphic loci mimicked false maternity or false paternity in three affected families. Based on these observations, we suggest giving consideration to gene deletion when dealing with segregation of null alleles in OTC deficiency.
Ultrasound diagnosis of the pena shokeir phenotype at 14 weeks of pregnancy
Authors: Ajayi R. A. , Keen C. E. , Knott P. D. 
Published: March 2007

AbstractThis report describes the early prenatal diagnosis of the Pena Shokeir phenotype in an at‐risk patient at 14 weeks' gestation. The diagnosis was based on an abnormal fetal movement profile, in association with an abnormal position of the fetal limbs. Pena Shokeir phenotype describes an inherited condition characterized by arthrogryposis and dysmorphic features as a result of fetal akinesia. It is a lethal abnormality and early diagnosis allows safer surgical methods of termination.
Prenatal diagnosis of trisomy 8 mosaicism in cvs after abnormal ultrasound findings at 12 weeks
Authors: Guichet A. , Briault S. , Toutain A. , Paillet C. , Descamps P. , Pierre F. , Body G. , Moraine Cl. 
Published: March 2007

AbstractWe describe a case of trisomy 8 mosaicism in which fetal chromosome analysis was prompted by ultrasound abnormalities, i.e., hygroma colli and dilatation of the renal pelves. Chorionic villus sampling (CVS) was performed, with a false‐negative result on direct karyotype analysis, although cultured trophoblasts revealed trisomy 8 mosaicism. Fetal autopsy confirmed the abnormalities found on ultrasound examinations and fetal tissue examination showed different levels of trisomy 8 mosaicism. To our knowledge, this is the first prenatal diagnosis of trisomy 8 made on ultrasound findings.