bluuebunny/crossref_metadata_2025_split huggingface dataset:
Determinants of parental decisions to abort for chromosome abnormalities
Authors: Drugan Arie , Greb Anne , Johnson Mark Paul , Krivchenia Eric L. , Uhlmann Wendy R. , Moghissi Kamran S. , Evans Mark I. 
Published: March 2007

AbstractParental decisions concerning the continuation of pregnancy following prenatal detection of abnormal chromosomes were evaluated for 80 patients whose diagnosis and prenatal counselling were performed in our centre. Twenty‐two anomalies were diagnosed by chorionic villus sampling (CVS) and 58 by amniocentesis. The severity of the chromosome anomaly and associated ultrasound findings in the first vs. second trimester were correlated with patients' decisions. No difference was found in the likelihood of parental decisions to interrupt or continue a pregnancy between CVS and amniocentesis for either the‘severe’ or the‘questionable’ group of chromosome anomalies. Ninety‐three per cent of patients with severe prognosis and 27 per cent with questionable prognosis opted for pregnancy termination (p <0·0001). The association of ultrasound anomalies and termination was highly significant (p< 0·001). The severity of the chromosome anomaly, and, to a lesser extent, the visualization of anomalies on ultrasound were the major determinants of parental decisions to terminate the pregnancy. The diagnosis of an anomaly in the first trimester was no more likely ito lead to a termination of pregnancy than in the second trimester.
Ultrasonographic diagnosis of a fetal abdominal mass: A case of a mesenchymal liver hamartoma and a review of the literature
Authors: Hirata Greigh I. , Matsunaga Marsha L. , Medearis Arnold L. , Dixon Patricia , Platt Lawrence D. 
Published: March 2007

AbstractA case of a prenatally recognized hepatic mesenchymal hamartoma is presented and the literature reviewed. These tumors are benign and usually present in early infancy with symptoms that are related to the mass effect on adjacent organs. Radiologic methods used in the past to image this tumor include angiography and ultrasound. However, there is no specific radiologic finding, and, therefore, the diagnosis is usually made during surgery. Once the tumor is removed, the prognosis is generally good. With the increasing use of high resolution ultrasound in prenatal diagnosis, this rare tumor should be considered in the differential diagnosis of any multicystic mass found in the fetal abdomen. The recognition of a mass should then alert the physician to the need for early neonatal intervention.
Central nervous system damage and other anomalies in surviving fetus following second trimester antenatal death of co‐twin. Report of four cases and literature review
Authors: Anderson R. L. , Golbus M. S. , Curry C. J. R. , Callen P. W. , Hastrup W. H. 
Published: March 2007

AbstractFour cases of multiple gestation with second trimester death of one fetus and subsequent damage to a survivor are reported. Monochorionic placentation was documented in three of the cases. Central nervous system lesions occurred in all cases, and bowel injury was noted in two of the damaged fetuses. Although rare maternal clotting problems have been reported in similar situations, none was noted in any of these four cases. Prior reports have indicated that losses in the first half of gestation were of no consequence to the surviving fetuses. These four cases contradict this suggestion, and indicate that close sonographic observation of the survivors is important in any multiple gestation where one fetus has died.
Prenatal diagnosis of the infantile type of neuronal ceroid lipofuscinosis by electron microscopic investigation of human chorionic villi
Authors: Rapola Juhani , Salonen Riitta , Ämmälä Pirkko , Santavuori Pirkko 
Published: March 2007

AbstractChorionic villus biopsy specimens were studied electron microscopically in six pregnancies at risk of the infantile type of neuronal ceroid lipofuscinosis (INCL). The biopsy was performed in all cases in the first trimester of pregnancy (8–10 gestation weeks) by the transcervical route. In one case, the biopsy was repeated at 17 weeks by the transabdominal procedure. In two pregnancies, the endothelial cells and, to a lesser extent, the mesenchymal cells of the chorionic villi contained unit membrane‐bound inclusions typical of INCL. In both cases, the pregnancy was terminated and in one of them identical inclusions were found in the brains and kidneys of the fetus at 20 weeks of gestational age. The children from the remaining four pregnancies are healthy and have shown no signs of the disease.
Chorionic villus sampling for prenatal diagnosis in wales using DNA probes—5 years' experience
Authors: Upadhyaya Meena , Fryer Alan , Foat Graham , Robinson Denise , Quarrell Oliver , Roberts Adrian , Harper P. S. 
Published: March 2007

AbstractChorionic villi were sampled from 125 women who requested prenatal diagnosis, either for genetic disorders or because of advanced maternal age. Of these, 105 samples were obtained by the transcervical route and 20 were obtained by the transabdominal approach. The sampling success rate was 97 per cent (122/125). The mean maternal age of the patients was 31 years (range 17–44) and the mean gestational age at which the chorionic villus sampling was performed was 10 weeks (range 7–13 weeks). Seventy‐four of these diagnoses involved the use of DNA markers. The minimal size of the sample used for DNA diagnosis was 5 mg. Maternal contamination was detected in two samples. A diagnosis was provided on all but two samples. The fetal loss rate was high initially but fell to 1·9 per cent in 1988.
Correlation between phenotypic expression of de novo marker chromosomes and genomic organization using replicational banding
Authors: Cheung Sau W. , Crane James P. , Beaver Heidi 
Published: March 2007

AbstractIt has been suggested that actively expressed genes are primarily located in early replicating bands. This hypothesis is supported by cytogenetic and pregnancy outcome data from four consecutive cases of prenatally detected de novo marker chromosomes. Two fetuses with major anomalies had large early replicating bands, while the marker in a third phenotypically normal fetus was late replicating. In the fourth case, a ring marker chromosome had only a small early replicating region. Pregnancy termination was elected. While no structural malformations were apparent, potential intellectual function in this case remains unresolved. An understanding of the relationship between genomic organization and chromosome banding is critical in counseling for prenatally detected de novo marker chromosomes. Replicational banding is particularly helpful in recognizing genes that may be actively expressed and result in developmental abnormality.
Reduced fetal hepatic alpha‐fetoprotein levels in Down' S syndrome
Authors: Kronquist Kathryn E. , Dreazen Eli , Keener Sherry L. , Nicholas Thomas W. , Crandall Barbara F. 
Published: March 2007

AbstractIn the majority of pregnancies involving a Down' s syndrome (DS) fetus, the level of alpha‐fetoprotein (AFP) measured in maternal serum and amniotic fluid is reduced to about 70 per cent of the level attained in normal pregnancies. Causes of this decrease may include the production of an altered AFP molecule with modified turnover or transport properties, or a reduction in the level of AFP synthesis. We examined hepatic AFP mRNA transcripts and compared AFP polypeptide isoforms in liver tissue samples obtained from a group of DS and normal abortuses. No difference was detected in the structure of the AFP mRNA transcript or in the charge or mass of AFP polypeptides in the two sample groups. However, the hepatic AFP level, expressed as μg AFP/mg protein, was significantly lower in a group of 28 DS cases relative to a group of 47 normal controls (P = 0·04). This difference in hepatic AFP concentration did not appear to be the result of a general reduction in the level of total protein or total RNA production. The greatest difference between the AFP levels of the DS and normal groups was observed in the earliest samples examined (i.e., at 17–19 weeks of age) where the median AFP levels differed by about 20 per cent.
A revisit of trisomy 20 mosaicism in prenatal diagnosis—an overview of 103 cases
Authors: Hsu Lillian Y. F. , Kaffe Sara , Perlis Theresa E. 
Published: March 2007

AbstractOne hundred and three cases with prenatal diagnosis of trisomy 20 mosaicism through amniocentesis were reviewed. Approximately 90 per cent (90/101) of the cases were associated with grossly normal phenotype. It is likely that, in the majority of cases, cells with trisomy 20 were extraembryonic in origin or largely confined to the placenta. However, in some cases, the cells with trisomy 20 were confined to certain specific fetal organs or tissues such as kidney, skin, etc. Cytogenetic follow‐up studies in liveborns should include a culture from urine sediment.
Prenatal diagnosis of congenital my asthenia with arthrogryposis in a myasthenic mother
Authors: Stoll Claude , Ehret‐Mentre Marie‐Christine , Treisser Alain , Tranchant Christine 
Published: March 2007

AbstractWe studied two children born to a myasthenic mother. The first child, a female, had multiple flexion contractures. She died 1 h after birth. In the second pregnancy, 3 years later, ultra‐sonographic examination at 20 weeks showed decreased fetal movements and multiple flexion contractures. The pregnancy was interrupted. Eight other cases of congenital rnyasthenia with arthrogryposis are known; four of them are siblings. The recurrence risk may be as high as 100 per cent. Our second case demonstrates that prenatal diagnosis is possible early enough to allow termination of pregnancy.
A three‐year follow‐up on a child with low level trisomy 8 mosaicism which was diagnosed prenatally
Authors: Camurri Lamberto , Chiesi Annalisa 
Published: March 2007

AbstractWe report on a case of trisomy 8 mosaicism detected prenatally in a single clone of amniotic fluid culture, and confirmed on fetal blood and on peripheral lymphocytes after birth. A follow‐up was performed over 3 years, showing a clinically normal female with cognitive, neuropsychological, and linguistic development in a normal range.
Analysis of acylcarnitines in maternal urine for prenatal diagnosis of glutaric aciduria type 2
Authors: Sakuma Toru , Sugiyama Naruji , Ichiki Takashi , Kobayashi Masanori , Wada Yoshiro , Nohara Daisuke 
Published: March 2007

AbstractThe urinary acylcarnitine profiles of two mothers whose first children were diagnosed to have glutaric aciduria type 2 (multiple acyl‐CoA dehydrogenation deficiency, electron transfer flavoprotein (ETF) deficiency) were analysed in the second pregnancy. Large volumes of tigrylcarnitine and isovalerylcarnitine and a little glutarylcarnitine were detected. Each fetus was also diagnosed to be abnormal by enzyme activity and immunoassay of ETF protein. The acylcarnitines in the mothers' urine disappeared in 1 week after labour or artificial abortion. Acylcarnitines were never detected in the urine of controls.
Prenatal screening for chromosome abnormalities using maternal serum chorionic gonadotrophin, alpha‐fetoprotein, and age
Authors: Crossley J. A. , Aitken D. A. , Connor J. M. 
Published: March 2007

AbstractHuman chorionic gonadotrophin (hCG) levels were assayed retrospectively in stored maternal serum samples from 78 chromosomally abnormal pregnancies and 410 controls matched for gestation and maternal age. The median serum hCG concentration in 49 pregnancies with Down's syndrome was significantly elevated, at 2.18 multiples of the normal median. Significantly reduced hCG concentrations were found in a group of four trisomy 18 pregnancies (all less than 0.4 multiples of the median). Eight cases of unbalanced chromosome rearrangements appeared to show some lowering of hCG levels, while there was no significant difference in the levels in the cases of trisomy 13, balanced translocations, and sex chromosome abnormalities. Maternal serum hCG alone is a better indicator of Down's syndrome pregnancies than maternal age or maternal serum alpha‐fetoprotein (AFP), either individually or in combination, and provides a further virtually independent measure of risk. On the basis of our findings, screening for Down's syndrome using hCG and AFP results combined with maternal age risks is predicted to result in a higher detection rate (57 per cent) for a lower false‐positive rate (5.0 per cent) than would be attainable by combined AFP and age screening (37 per cent detection at a 6.6 per cent false‐positive rate).
Prenatal diagnosis of severe osteogenesis imperfecta
Authors: Constantine G. , McCormack J. , McHugo J. , Fowlie A. 
Published: March 2007

AbstractThe ultrasound findings in a series of 15 prenatally diagnosed cases of severe osteogenesis imperfecta types IIA, IIB, IIC, and III are described, eleven being detected on routine scans of women with no relevant history. As most cases of osteogenesis imperfecta type IIA are dominant sporadic mutations, the importance of prenatal diagnosis during routine scanning at a local level is emphasized. In addition to characteristic broad, shortened and fractured long bones, striking features of the chest and head are highlighted which may be encountered during a routine scan, prompting further assessment.
PRENATAL DIAGNOSIS OF CYSTIC HYGROMA AND CHORIOANGIOMA IN THE WOLF‐HIRSCHHORN SYNDROME
Authors: Verloes A. , Schaaps J. P. , Kerens C. , Soyeur D. , Hustin J. , Dodinval P. 
Published: March 2007

AbstractWe report the prenatal diagnosis of Wolf‐Hirschhorn syndrome (4p –) in a 24‐week‐old fetus. Echographic features included cystic hygroma, a complex heart defect with right ventricular hypoplasia, and a large placental chorioangioma. We suggest that chorioangioma may be associated with chromosomal imbalance and that systematic careful morphologic examination of the fetus and karyotyping of any pregnancy in which large chorioangioma is detected is advisable. Jugular lymphatic obstruction sequence has not been reported so far in association with 4p– syndrome.
‘False‐negative’ and ‘false‐positive’ prenatal cytogenetic results due to ‘true’ mosaicism
Authors: Hammer P. , Holzgreve W. , Karabacak Z. , Horst J. , Miny P. 
Published: March 2007

AbstractA 37‐year‐old gravida was referred for CVS because of advanced maternal age. A trisomy 21 was present in all cells after short‐term incubation (direct processing (DP)) and long‐term culture. According to our policy, a retap was offered for confirmation of the result during the legally required 3‐day waiting period between communication of the result and termination of pregnancy. Unexpectedly all cells after DP showed a normal male chromosome complement. Further investigations revealed mosaicism in trophoblast tissue and a normal karyotype in amniotic fluid cells and fetal blood (50 mitoses each). The parents elected to continue the pregnancy after extensive ultrasound examinations did not show suspicious findings. After the birth of a healthy child, cell cultures from ten different placental sites confirmed mosaicism. Four out of 100 mitoses from a lymphocyte culture showed an additional chromosome 21. The child had no dysmorphic features and the development was normal at the age of 10 weeks. This case demonstrates the restricted validity of prenatal cytogenetic analysis in the presence of true fetal mosaicism. It also stresses the benefit of our policy to offer a retap in cases with abnormal cytogenetic results prior to termination of pregnancy which is considered unnecessary by many cytogeneticists.
Prenatal diagnosis of lissencephaly
Authors: Saltzman Daniel H. , Krauss Celeste M. , Goldman Janet M. , Benacerraf Beryl R. 
Published: March 2007

AbstractWe report two cases of prenatal detection of lissencephaly by high‐resolution ultrasound. The first case studied was referred for high‐risk obstetrical management and serial antenatal ultrasounds because of a family history of lissencephaly in an unresolved chromosomal abnormality. Diagnosis of a smooth gyral pattern consistent with lissencephaly was made at 32 weeks' gestation. The second case was referred for prenatal ultrasound because of a size versus dates discrepancy. The ultrasound examination showed a smooth gyral pattern at 31.5 weeks. In light of this ultrasound finding, a fetal blood sample was obtained and a chromosomal abnormality reported, confirming the diagnosis. To our knowledge, these cases represent the first report of the sonographic prenatal diagnosis of cerebral agyria or lissencephaly.
Prenatal diagnosis for huntington's disease: A molecular and psychological study
Authors: Spurdle Amanda , Kromberg Jennifer , Rosendorff Jennifer , Jenkins Trefor 
Published: March 2007

AbstractTwo linked probes were used to determine the Huntington's disease status of the fetus conceived by a woman affected with the condition. The fetus was found to be unaffected with a certainty of 97 per cent. The ethical issues associated with presymptomatic testing were avoided since the mother presented with initial symptoms of Huntington's disease, but other psychological and ethical issues arose. The concerns of an affected woman planning a pregnancy, and the dilemmas involved in decision‐making regarding prenatal diagnosis and possible selective abortion were exposed and explored with the patient and her husband.
Astomia‐agnathia‐holoprosencephaly association. Prenatal diagnosis of a new case
Authors: Rolland M. , Sarramon M. F. , Bloom M. C. 
Published: March 2007

AbstractA case of agnathia‐astomia‐holoprosencephaly with prenatal ultrasound diagnosis at 23 weeks is reported and discussed. This lethal neurocristopathy, well known in mammalians, is rarely observed in humans. Prenatal diagnosis features are intrauterine growth retardation, mandible absence or major hypoplasia, holoprosencephaly, cyclopia or hypotelorism, and in some instances frontal proboscis. This malformation is usually sporadic, but may be genetically determined as an autosomal recessive trait, since two cases in the same sibship have been reported.
First‐trimester diagnosis of an unusual case of α‐mannosidosis
Authors: Petushkova N. A. 
Published: March 2007

AbstractChorionic villi obtained in the first trimester from a pregnancy at risk for α‐mannosidosis were shown to have reduced α‐mannosidase (EC 3.2.1.24) activity. The pregnancy was terminated and subsequent enzyme studies of the fetal tissues were consistent with the diagnosis of α‐mannosidosis. Like the enzyme in the child's fibroblast, α‐mannosidase of the chorionic villi from a pregnancy at risk for α‐mannosidosis was activated by high substrate concentration and by Zn2 +, and displayed a Km value two‐fold higher than normal. Our results confirm that chorionic villi can be used for early prenatal diagnosis of α‐mannosidosis.
Randomized clinical trial of transabdominal versus transcervical chorionic villus sampling methods
Authors: Brambati Bruno , Terzian Emanuela , Tognoni Gianni 
Published: March 2007

AbstractThe relative advantages and disadvantages of transabdominal (TA) and transcervical (TC) chorionic villus sampling (CVS) in terms of fetal risks and efficacy were evaluated in a clinical trial conducted on 1194 women randomized at 7–12 weeks' gestation. The results of the study indicate that, if any, the relative risk of fetal loss following either procedure is less than double that of the alternative technique when performed by a skilled operator. Overall, the fetal loss rate (spontaneous abortions following randomization, terminations of pregnancy, and perinatal deaths) is 16.5 and 15.5 per cent, respectively, among women allocated to TA‐ and TC‐CVS. The two procedures are equally effective, although TA‐CVS is associated with a significantly lower rate of repeat device insertions; on the other hand, a higher weight of chorionic tissue is obtained, on average, with TC‐CVS. Bleeding is more common following TC‐CVS, while peritoneal reaction developed only after TA‐CVS. No diagnostic problems specifically related to one sampling technique were identified.
Expression of fragile‐x in a female fetus diagnosed after chorionic villus sampling
Authors: Webb Tessa 
Published: March 2007

AbstractStudy of different tissues of an aborted female fetus showed similar levels of fragile‐X expression (6.3–9.2 per cent) and of early replication of the FRAXA‐positive cells (50–66 per cent) in fetal tissues. Different culture media did not significantly affect either investigation. It is suggested that the distribution of X‐inactivation in FRAXA‐positive chorionic villus cells of a female fetus might indicate her future phenotype.
Partial trisomy 22q12→qter in prenatal diagnosis
Authors: Tolkendorf Erika , Mehner Gunter , Prager Bettina 
Published: March 2007

AbstractUltrasound examination of a 27‐year‐old primigravida at 26 weeks' gestation revealed fetal growth retardation, malformation of the ventricular septum, and a neck fold. Chromosome analysis of the amniotic fluid showed an abnormal 46,XY karyotype with an obvious meta‐centric chromosome 17. Chromosome analysis of the mother revealed a balanced t (17;22) (p13;q12) translocation. The fetus thus has a rare familial duplication 22q12→qter. Eight live‐born and severely malformed infants with this duplication have been reported in the literature.
Enhancement of amniocyte growth on a precoated surface
Authors: Chang Hsiao‐Chen , Jones Oliver W. 
Published: March 2007

AbstractThis study investigates whether cell‐free amniotic fluid facilitates cell attachment to the surface of culture plates and thereby promotes rapid amniocyte growth. Isolated or pooled cell‐free amniotic fluid samples at different volumes were added to culture plates. Trypsinized subcultures, grown in Eagle's minimum essential alpha medium supplemented with fetal bovine serum (4–20 per cent), were monitored by cell counts. The results demonstrated growth stimulation on culture plates precoated with amniotic fluid. The minimal time for coating the culture plates was 6h. Maximal coating was observed after an overnight incubation with 2–3 ml of the fluid per culture vessel. No synergistic effect from addition of fetal bovine serum to amniotic fluid was observed. A freshly coated surface provided the best amniocyte growth.When primary cultures are grown on a precoated surface, there is an increase in colony counts in 80 per cent of the samples tested. This method may be used to improve amniocyte growth, especially in samples with relatively small numbers of cells.
β‐Glucuronidase deficiency as a cause of prenatally diagnosed non‐immune hydrops fetalis
Authors: Lissens W. , Dedobbeleer G. , Foulon W. , de Catte L. , Charels K. , Goossens A. , Liebaers I. 
Published: March 2007

AbstractWe describe a case of β‐glucuronidase deficiency presenting as a non‐immune hydrops fetalis diagnosed at 26 weeks of gestation. The deficiency was disclosed on cultured amniotic fluid cells and in fetal plasma and was confirmed post‐abortion. In a second pregnancy, a normal β‐glucuronidase activity was found in extracts of chorionic villi obtained at 10 weeks of gestation. The pregnancy is continuing uneventfully. We conclude that it is of great importance to verify the presence of metabolic disease whenever the major causes of hydrops fetalis have been excluded.
The efficacy of maternal age screening for Down's syndrome in Wessex
Authors: Youings Sheila , Gregson Nina , Jacobs Patricia 
Published: March 2007

AbstractThe uptake of amniocentesis in Wessex for the period 1986–1988 was 36 per cent (2873 of 8004 births), a proportion that has not altered significantly since 1984. There is a large difference in uptake between women in the lower risk age group, 35–36 years, and those in the higher risk group, 37 + years, and very considerable differences in uptake among different districts. The prenatal detection over the 3‐year study period for women aged 35 or more, after correction for spontaneous loss of Down's syndrome fetuses between prenatal detection and birth, is 53 per cent, a figure that must be inflated due to our failure to ascertain all liveborn Down's syndrome patients.