bluuebunny/crossref_metadata_2025_split huggingface dataset:
First‐trimester maternal serum human chorionic gonadotrophin as a marker for fetal chromosomal disorders
Authors: Van Lith J. M. M. ,   For the Dutch Working Party on Prenatal Diagnosis
Published: March 2007

AbstractThe Dutch Working Party on Prenatal Diagnosis has initiated a study on the possibilities of first‐trimester screening for fetal chromosomal disorders. We report on maternal serum human chorionic gonadotrophin (MS‐hCG) measurements in 1348 pregnancies with a chromosomally normal fetus and 53 pregnancies with a chromosomally abnormal fetus. The median MS‐hCG concentration in 24 pregnancies with Down's syndrome was 1.19 multiples of the normal median (MoM). The MS‐hCG distributions in normal and Down's syndrome pregnancies did not differ significantly (t‐test: t = 1.945, p >0.05). We also found no difference between normal pregnancies and pregnancies with other chromosomal disorders (six cases of trisomy 18, MoM = 0.80; four cases of sex chromosome abnormality, MoM = 1.01; 17 cases of chromosomal mosaicism in chorionic villi, MoM = 1.11). Selecting an upper limit at the 90th centile could detect 25 per cent of pregnancies with Down's syndrome. We conclude that, in the first trimester, MS‐hCG as a screening factor for Down's syndrome is of minor value. However, MS‐hCG could be a useful factor in a first‐trimester screening programme based on a combination of markers.
Variation in the levels of pregnancy‐ specific β‐1‐glycoprotein in maternal serum from chromosomally abnormal pregnancies
Authors: Graham G. W. , Crossley J. A. , Aitken D. A. , Connor J. M. 
Published: March 2007

AbstractHuman pregnancy‐specific β‐1‐glycoprotein (SP1) was assayed retrospectively in stored maternal serum (MS) samples from 82 chromosomally abnormal pregnancies and 377 matched controls. The median MSSP1 concentration in 48 Down's syndrome pregnancies was significantly elevated at 1.17 multiples of the control median (MOM), and significantly reduced (0.5 MOM) in a group of eight cases of unbalanced translocations. There was no significant difference in median SP1 concentrations in cases of trisomy 18, trisomy 13, balanced translocations, or sex chromosome abnormalities. A comparison with human chorionic gonadotrophin results in the same series of samples indicates that SP1 is a less sensitive predictor of Down's syndrome pregnancies.
Prenatal diagnosis of autosomal dominant polycystic kidney disease using flanking DNA markers and the polymerase chain reaction
Authors: Turco Alberto , Peissel Bernard , Quaia Piero , Morandi Raffaella , Bovicelli Luciano , Pignatti Pier Franco 
Published: March 2007

AbstractA prenatal diagnosis was carried out on a 9‐week‐old fetus at risk for autosomal dominant polycystic kidney disease (ADPKD). Ten members of the family were previously typed using five DNA markers linked to the PKD1 locus on chromosome 16, and one marker linked to the putative PKD2 locus on chromosome 2. The polymerase chain reaction (PCR) was used to amplify the D16S125 locus. Pairwise and multipoint lod scores indicated that the family was most likely segregating a PKD1 mutation. The fetus inherited the disease haplotype from the affected parent. Diagnostic accuracy was greater than 99 per cent, taking into account the possibility of genetic heterogeneity.
A rare case of a false‐negative finding in both direct and culture of a chorionic villus sample
Authors: Pindar Lesley , Whitehouse Melanie , Ocraft Kevin 
Published: March 2007

AbstractA discrepancy is reported between the karyotype of both direct and cultured chorionic villus cells (46,XX) and a fetal skin biopsy (47,XX,+18). The significance of this result is discussed and compared with similar discordant findings reported in the literature.
Prenatal sonographic diagnosis of diastematomyelia in a diabetic woman
Authors: Pachí A. , Maggi E. , Giancotti A. , Forleo S. , Torregrossa G. , Roggini M. , Bosman C. 
Published: March 2007

AbstractDiastematomyelia is a structural anomaly which concerns primarily the spine and secondarily the nervous structures contained in it. A case of early prenatal diagnosis (20th week) by ultrasound of diastematomyelia with associated diplomyelia in a diabetic woman is reported. Radiological and pathological examination of the fetus after therapeutic abortion confirmed the diagnosis.
Ultrasonic diagnosis of mediastinal cystic hygroma
Authors: Zalel Y. , Shalev E. , Ben‐Ami M. , Mogilner G. , Weiner E. 
Published: March 2007

AbstractThe incidence of cystic hygroma, which represents dilated obstructed jugular lymph sacs, is 1 in 6000 pregnancies. Cystic hygromas can be located in the nuchal area or in any other location. The prenatal ultrasonic diagnosis of a cystic hygroma in the mediastinum is presented.
Five years' experience of prenatal diagnosis of cystic fibrosis in the former U.S.S.R.
Authors: Baranov V. S. , Gorbunova V. N. , Ivaschenko T. E. , Shwed N. Yu. , Osinovskaya N. S. , Kascheeva T. K. , Lebedev V. M. , Mikhailov A. V. , Vakharlovsky V. G. , Kuznetzova T. V. 
Published: March 2007

AbstractFrom a total of 490 cystic fibrosis (CF) high‐risk families under supervision (mostly Russian Slavs from the European part of the country), DNA data including both direct screening for some CF gene(CFTR)mutations(deIF508, G551D and 1677delTA) and allelic polymorphism studies with tightly CF linked DNA markers were collected from 261 families. All full families (129) and 86 CF families with a deceased index child were found to be either fully (42 per cent) or partially (40 per cent) informative for DNA analysis. Prenatal diagnosis (PD) was carried out in 161 CF families. Microvillar enzyme (MVE) assay was applied to all 140 PD at the second trimester either as a single test (88) or in conjunction with DNA analysis (52). The frequency of false‐negative results of the MVE assay was 1.3 percent and that of false‐positive results, as judged by the albumin meconium test, was 5.0 per cent. Ambiguous results of MVE analysis were found in 30 cases, 12 of which were verified by DNA analysis. Molecular diagnosis of CF at the first trimester was carried out in 21 cases and four pregnancies were terminated. Altogether, 39 pregnancies with a predicted high risk of CF fetuses were terminated. The low average frequency of delF508 in CF chromosomes of Russian Slavs (50 per cent), its remarkable inter‐population variation, and the significant proportion of at‐risk families without an affected child determine the necessity of combined molecular and biochemical (MVE assay) approaches for efficient prenatal diagnosis of CF in the former U.S.S.R.
Transvaginal sonography—detection of findings suggestive of fetal chromosomal anomalies in the first and early second trimesters
Authors: Bronshtein Moshe , Blumenfeld Zeev 
Published: March 2007

AbstractOver a 4‐year period, 14 dyskaryotic fetuses were diagnosed by amniocentesis, performed after early detection of malformations using transvaginal sonography (TVS). These 14 dyskaryotic fetuses were detected out of 4878 sonographic screenings performed by TVS between 9 and 16 weeks' gestation. Twenty‐eight per cent of the referrals were at high risk and 72 per cent were at low risk for fetal malformations. Two hundred and twenty‐nine fetuses (4.7 per cent) of the screened population had 265 anomalies, 39 per cent of them being transient. In 7 of the 14 dyskaryotic fetuses (50 per cent), the sonographically detected anomalies were transient, being undetected by follow‐up sonographic screenings at later gestational ages (⩾18 weeks). Postponing the first sonographic scan aimed at malformation detection to a later gestational age may lead to transient anomalies and their associated dyskaryosis being missed.
First trimester amniocentesis between the seventh and 13th weeks: Evaluation of the earliest possible genetic diagnosis
Authors: Kennerknecht I. , Baur‐Aubele S. , Grab D. , Terinde R. 
Published: March 2007

AbstractAmniocentesis performed at the 12th week and later gives reliable results. The procedure can be performed using regimens developed for mid‐trimester amniotic fluid (AF) cells. Extension to the 10th–11th week is, in principle, feasible. However, the high cytogenetic failure rate is a difficulty and despite a high clone count, the culture time is prolonged. The problem of the relatively high loss of AF could be overcome by cell filtration techniques and replacement of the fluid. Because of the short turnover rate of the AF, this may be unnecessary or replacement with an isotonic solution may be sufficient. (Pseudo)mosaicism appears to occur more frequently in early than in late amniocentesis. As yet, data are too sparse to allow a comparison with chorionic villus sampling. There are no reliable follow‐up data from which to estimate the abortion rate and the number of embryonic malformations.
First‐trimester amniotic fluid and extraembryonic coelomic fluid acetylcholinesterase electrophoresis
Authors: Campbell James , Cass Peter , Wathen Neville , Stone Rosana , Wald Nicholas 
Published: March 2007

AbstractAcetylcholinesterase (AChE) gel electrophoresis was performed on samples of amniotic fluid and extraembryonic coelomic fluid obtained by high resolution transvaginal ultrasound‐guided amniocentesis from 38 women between 8 and 12 weeks of pregnancy. AChE was positive in 33 per cent (12/36) of the amniotic fluid samples; the percentage of positive results decreased as gestation advanced. AChE was positive in 32 per cent (9/28) of the extraembryonic coelomic fluid samples. In 81 per cent (21/26) of matched samples, the AChE results were identical in the two fluids. Amniotic fluid and extraembryonic coelomic fluid AChE electrophoresis cannot be used to diagnose neural tube defects prior to 12 weeks of gestation.
Cytogenetic experience in prenatal fra(X) detection on amniotic fluid cultures
Authors: Devillard F. , Prieur F. , Delhomme‐Bachy M. , De Freminville B. , Lauras B. , Brizard C. P. , Fraisse J. , Bertheas M. F. 
Published: March 2007

AbstractSince 1987, we have had experience with 13 prenatal diagnoses of 11 women at risk for the fragile X syndrome by cytogenetic studies on amniotic fluid cultures. The induction method included TC 199 medium and methotrexate. Results were obtained in all cases. Ten were males and three were prenatally diagnosed as being affected. Three were females and none of them was fra(X)‐positive. Results were confirmed in 10/13 cases. In these cases, we had neither false‐positive nor false‐negative results.
hCG, AFP, and uE3 patterns in the 14–20th weeks of Down's syndrome pregnancies
Authors: Mancini Giuliana , Perona Marco , Dall'Amico Concetta Daniela , Bollati Carla , Fulvia Albano , Carbonara Angelo Oscar 
Published: March 2007

AbstractA marked gestational‐age‐dependent variation in the 15‐20th week pattern of human chorionic gonadotropin concentrations in Down's syndrome (DS) pregnancies is described and its weight in DS screening is discussed.
Radiographic, haematological, and biochemical findings in a fetus with Caffey disease
Authors: Lécolier B. , Bercau G. , Gonzalés M. , Afriat R. , Rambaud D. , Mulliez N. , De Kermadec S. 
Published: March 2007

AbstractAn early case of prenatal Caffey disease is reported. Ultrasound examination performed at 20 weeks showed major angulations of long bones, but both ultrasound scan and X‐rays failed to make the differential diagnosis between Caffey disease and lethal osteogenesis imperfecta. A cordocentesis allowed us to find important biological abnormalities. The pregnancy was terminated after the rapid development of hydrops fetalis. The definitive diagnosis of Caffey disease was obtained by special X‐ray and pathological study.
Alpha‐fetoprotein levels and yolk sac size in the first trimester of pregnancy
Authors: Wathen N. C. , Cass P. L. , Campbell D. J. , Wald N. , Chard T. 
Published: March 2007

AbstractTransvaginal ultrasound measurement of the yolk sac and transvaginal amniocentesis were carried out on 94 women prior to first‐trimester termination of pregnancy. Maternal serum and fluids from the amniotic cavity and extraembryonic coelom were analysed for alpha‐fetoprotein (AFP). No correlation was found between the yolk sac size and the levels of AFP in any of these sites.
The significance of choroid plexus cysts in fetuses at 18–20 weeks. An indication for amniocentesis?
Authors: Howard Richard J. , Tuck Susan M. , Long Joanne , Thomas Valerie A. 
Published: March 2007

AbstractOver a period of 25 months, all antenatal patients were offered a detailed ultrasound scan at 18–20 weeks' gestation. The lateral cerebral ventricles were scanned for the presence of choroid plexus cysts. Fifty‐one patients found to have choroid plexus cysts were offered amniocentesis to exclude chromosomal abnormalities. One pregnancy, in which the only abnormality found was bilateral choroid plexus cysts, was terminated after trisomy 18 was detected on amniocentesis at 19 weeks. The other 50 pregnancies had normal fetal outcomes. The significance of the isolated finding of choroid plexus cysts is reviewed.
Morphological features of a case of retinoic acid embryopathy
Authors: van Maldergem Lionel , Jauniaux Eric , Gillerot Yves 
Published: March 2007

AbstractA case of retinoic acid embryopathy which was retrospectively diagnosed after delivery is presented. The affected fetus was exposed to the drug during the first month of pregnancy and second‐trimester sonographic examination showed hydrocephalus and cardiacmalformation. The diagnosis was made on the basis of autopsy findings and genetic enquiry.
Neonatal form of the hyperornithinaemia, hyperammonaemia, and homocitrullinuria (HHH) syndrome and prenatal diagnosis
Authors: Shih Vivian E. , Laframboise Rachel , Mandell Roseann , Pichette Jeanne 
Published: March 2007

AbstractWe describe here the first case of neonatal death due to the hyperornithinaemia, hyperammonaemia, and homocitrullinuria (HHH) syndrome and the first prenatal diagnosis of this disorder in a subsequent pregnancy in this family.
Atelosteogenesis type II: Sonographic and radiological correlation
Authors: Nores Jose A. , Rotmensch Siegfried , Romero Roberto , Avila Cecilia , Inati Mona , Hobbins John C. 
Published: March 2007

AbstractAtelosteogenesis type II is a lethal chondrodysplasia characterized by severe micromelia, spinal abnormalities, talipes equinovarus, and abducted thumbs and toes. We present a case diagnosed at 21 weeks of gestation in which antenatal sonographic and post‐mortem radiological findings were correlated. The patient had a recurrence of this disorder in a subsequent pregnancy which was terminated at 15 weeks, supporting previous reports of an autosomal recessive inheritance pattern. The feasibility of diagnosing the following morphological features by prenatal ultrasonography is demonstrated: coronal clefts of the vertebral bodies, metaphyseal and epiphyseal abnormalities, spinal deviations such as cervical kyphosis and a horizontal sacrum, additional ossification centres in the pelvis, and preaxial deviation of the thumbs and toes. The differential diagnosis of this disorder from other skeletal dysplasias with similar features is discussed.
Fetal nuchal fluid‐physiological or pathological?—In pregnancies less than 17 menstrual weeks
Authors: Wilson R. D. , Venir N. , Farquharson D. F. 
Published: March 2007

AbstractFor pregnancies less than 17 menstrual weeks, increasing amounts of nuchal fluid increase the risks of chromosome abnormalities with localized nuchal fluid, diffuse nuchal fluid, cystic hygroma, and fetal hydrops having chromosomal risks of 12, 23, 50, and 78 per cent, respectively. The ultrasound appearance of localized or diffuse nuchal fluid is not a specific discriminator, but a fluid depth of greater than or equal to 5 mm may be an indicator of increased risk of fetal chromosomal abnormalities. If the fluid depth is less than 5 mm, there is a stronger negative predictive value and negative likelihood risk of a fetal chromosome abnormality. Gestational age did not improve the fluid depth predictive value. Differentiation of physiological from pathological requires chromosome analysis, serial ultrasound evaluation, and good clinical examination as a newborn and possibly as a young child. Long‐term follow‐up of those cases identified with resolving nuchal fluid abnormalities is not available and is required for a complete understanding of physiological and pathological aetiologies. Genetic counselling for fetal nuchal fluid would be recommended.
Aplasia cutis congenita associated with epidermolysis bullosa and pyloric atresia: The diagnostic role of prenatal ultrasonography
Authors: Achiron R. , Hamiel‐Pinchas O. , Engelberg S. , Barkai G. , Reichman B. , Mashiach S. 
Published: March 2007

AbstractAplasia cutis congenita associated with epidermolysis bullosa and pyloric atresia is a rare congenital disease in which localized or widespread areas of skin are absent at birth. Alpha‐ fetoprotein (AFP) and skin biopsy have been used for prenatal diagnosis of this condition. A patient in whom normal levels of amniotic AFP at 16 weeks' gestation presumably excluded the disease and who was at risk for aplasia cutis congenita associated with epidermolysis bullosa and pyloric atresia is described. However, 10 weeks later, ultrasonographic examination revealed hydramnios, a dilated stomach, a deformed external ear, and a contracted fisted hand. All signs were confirmed postnatally. The role of ultrasonography and the value of other diagnostic methods in this congenital disease are discussed.
Second‐trimester maternal serum immunoreactive inhibin as a marker for fetal Down's syndrome
Authors: Van Lith J. M. M. , Pratt J. J. , Beekhuis J. R. , Mantingh A. 
Published: March 2007

AbstractWe measured immunoreactive inhibin in the maternal serum of 80 pregnancies with a chromosomally normal fetus and ten Down's syndrome pregnancies in the second trimester. The inhibin level in all Down's syndrome pregnancies was above the normal median; the multiple of the normal median (MoM) was 1.9. We found a statistically significant difference between the levels of inhibin in unaffected and affected pregnancies (Kolmogorov–Smirnov test: p <0.002). Using an arbitrarily chosen cut‐off of 2.4 MoM, 40 per cent of Down's syndrome and 5 per cent of the normal pregnancies were found. We conclude that immunoreactive inhibin may be useful as a marker for fetal Down's syndrome.
Fumarylacetoacetase activity in cultured and non‐cultured chorionic villus cells, and assay in two high‐risk pregnancies
Authors: McCormack M. J. , Walker E. , Gray R. G. , Newton J. R. , Green A. 
Published: March 2007

AbstractWe describe further development of the fumarylacetoacetase (FAA) assay for the prenatal diagnosis of tyrosinaemia type 1 using chorionic villus sampling (CVS). We have established a reference range for FAA activity in cultured villus cells and have confirmed previously reported data on the FAA activity in uncultured chorionic villus cells. This should allow confirmation of results using CVS, without the need for further invasive procedures. We report the FAA enzyme stability at −70°C, +4°C, and at room temperature, and we have shown no obvious difference in enzyme activity with gestational age. We have analysed cultured and non‐cultured CVS activity of FAA in two pregnancies at risk of tyrosinaemia type 1. In both, the fetus was designated unaffected, and these results were confirmed postnatally.
Transabdominal chorionic villus sampling: Fetal loss rate in relation to maternal and gestational age
Authors: Monni Giovanni , Ibba Rosa M. , Laj Rosalba , Giuseppina Cau , Silvia Mura , Olla Giovanni , Cao Antonio 
Published: March 2007

AbstractIn this paper we report the fetal loss rate in relation to both maternal and gestational age in 1764 pregnant women who underwent transabdominal chorionic villus sampling (TA‐CVS) between January 1986 and August 1990. The fetal loss rate, considered as a proportion of continuing pregnancies, decreased with advancing gestational age at sampling from 4.3 per cent before 9 weeks to 0.4 per cent at or after 13 weeks, the difference being statistically significant (p <0.025). The fetal loss rate increased from 1.6 per cent in women under 30 to 2.4 per cent in women of 40 years or over, but the difference was not statistically significant. Considering that the total fetal loss rate before 28 weeks' gestation was on average 1.91 percent (1.3 per cent under 35 years and 2.8 per cent in women of 35 or over), we believe that TA‐CVS is a safe and effective technique for prenatal diagnosis of genetic diseases.
Effect of introducing prenatal diagnosis on the reproductive behaviour of families at risk for cystic fibrosis. A Cohort study
Authors: Borgo Graziella , Fabiano Teresa , Perobelli Sandra , Mastella Gianni 
Published: March 2007

AbstractWe studied 101 couples to determine how far their reproductive behaviour was affected by the diagnosis of cystic fibrosis (CF) on its first occurrence in the couple's progeny and by the availability of prenatal diagnosis (PD). The couples were all resident in the Veneto and Trentino regions and attending the Verona CF Centre. CF had been diagnosed in the first affected child, during the period 1 January 1980‐1 July 1990, before the age of 1 year.Couples received a questionnaire regarding socio‐demographic status, reproduction data, and awareness of PD. Reproductive history was divided into three phases: prior to diagnosis of CF in the first affected child; from this time until PD was made available; and after the couples had learned of PD. In phase 2 (awareness of the genetic risk but not of PD), 54 couples showed a marked decrease in reproduction, none of the few pregnancies that occurred being taken to term. When couples became aware of PD, some resumption of reproductive activity occurred and 11 per cent of the 101 couples had another child; PD was used in 65 per cent of pregnancies and the abortion rate decreased to 35 per cent. All couples who opted for PD had no children without CF.
Anencephaly in a fetus with osteogenesis imperfecta: Early diagnosis by transvaginal sonography
Authors: Bronshtein Moshe , Weiner Zeev 
Published: March 2007

AbstractEarly prenatal diagnosis of osteogenesis imperfecta at 14 weeks' gestation by transvaginal sonography is reported. An anencephalic fetus was found at autopsy, although on sonographic examination complete brain tissue had been observed. A possible explanation for these findings and theories on the pathogenesis of anencephaly are discussed.
Prenatal analyses in a pregnancy at risk for β‐mannosidosis
Authors: Kleijer W. J. , Geilen G. C. , Van Diggelen O. P. , Wevers R. A. , Los F. J. 
Published: March 2007

AbstractPrenatal analyses were performed in the pregnancy of the mother of a patient with β‐mannosidase deficiency. Partial deficiency of β‐mannosidase activity in the chorionic villi indicated a heterozygous fetus and this first‐trimester diagnosis was subsequently confirmed by amniocentesis.
Appearance of excessive lipids in amniotic fluid as a sign of fetal hyperlipidaemia
Authors: Lurie S. , Hagay Z. 
Published: March 2007

AbstractThe appearance of excessive lipids in amniotic fluid during Caesarean section raised the suspicion of a hyperlipidaemic fetus. The amniotic fluid had elevated cholesterol (53 mg/dl) and triglycerides (81 mg/dl). At the age of 2 months, the infant was hyperlipidaemic (cholesterol of 161 mg/dl and triglycerides of 84 mg/dl). The case suggests the possibility of prenatal diagnosis of hyperlipidaemia, a major risk factor for atherosclerosis.