bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prenatal exclusion of haemophilia a and carrier testing by direct detection of a disease lesion
Authors: Schwartz Marianne , Cooper David N. , Millart David S. , Kakkar Vijay V. , Scheibel Elma 
Published: March 2007

AbstractA novel mutation was detected in the Factor VIII gene of a sporadic case of severe haemophilia A. The lesion, a CGA → TGA transition, converts Arg 795 to Term and adequately accounts for the severe phenotype observed. PCR/direct sequencing was used to confirm the carrier status in the mother. Exclusion of haemophilia A in an at‐risk pregnancy was then achieved by demonstration of the absence of this lesion in fetal DNA from a chorionic villus sample. The mutation was also detectable by chemical cleavage of mismatch (CCM), which both confirmed the prenatal diagnosis and established the carrier status of the proband's sister. This example therefore serves to illustrate the potential of direct gene analysis in sporadic cases of haemophilia A and/or in families uninformative for known RFLPs.
Cystic hygroma and congenital diaphragmatic hernia: Early prenatal sonographic evaluation of Fryns' syndrome
Authors: Bulas Dorothy I. , Saal Howard M. , Allen Jill Fonda , Kapur Sudesh , Nies Barbara M. , Newman Kurt 
Published: March 2007

AbstractWe report a case of cystic hygroma and diffuse lymphangiectasia detected by sonogram at 12 weeks' gestation. Fetal karyotype was normal. At 20 weeks' gestation, herniation of the bowel into the chest was noted. At delivery, the infant was diagnosed as having Fryns' syndrome. This is the first reported case of Fryns' syndrome presenting with cystic hygroma.
Prenatal diagnosis of Chediak‐Higashi syndrome
Authors: Diukman Rony , Tanigawara Shingo , Cowan Morton J. , Golbus Mitchell S. 
Published: March 2007

AbstractWe report the first prenatal diagnosis of an affected fetus with Chediak‐Higashi syndrome (CHS). Diagnosis was accomplished via fetal blood sampling at 17 menstrual weeks and was confirmed after birth. Retrospective measurement of the largest acid phosphatase‐positive lysosomes in cultured amniotic fluid cells and chorionic villus cells showed that in CHS these lysosomes are significantly larger than those in normal cells. This method may be used for prenatal diagnosis of CHS by amniocentesis and chorionic villus sampling (CVS).
Screening for fetal Down syndrome with maternal serum hCG and oestriol: A prospective study
Authors: Herrou Michel , Leporrier Nathalie , Leymarie Pierre 
Published: March 2007

AbstractWe report the preliminary results of a prospective study aimed at evaluating the effectiveness of Down syndrome (DS) screening using second‐trimester measurement of maternal serum human chorionic gonadotrophin (hCG) and unconjugated oestriol (uE3) together with maternal age. Reference values for hCG, uE3, and the hCG/uE3 ratio in normal pregnancies were established from more than 3000 normal gestations and found to follow a log‐normal statistical distribution. Risk evaluation was made using reference values for affected pregnancies from retrospective studies. Screening of 10 000 women under 38 years resulted in 412 amniocenteses and the prenatal diagosis of six cases of DS, whereas four cases remained undetected until term. In a parallel study, diagnostic amniocentesis was performed in women over 38 years and in women with a previous affected child, and an evaluation of the risk of fetal DS based on serum hCG and uE3 levels was made in all cases. Fourteen cases of DS were detected. Median values for hCG and uE3 in the 24 affected pregnancies were close to the 90th and tenth centiles of the normal reference values, respectively, and thus are in good agreement with the values reported by others in retrospective studies.
Prenatal diagnosis of spina bifida aperta after first‐trimester valproate exposure
Authors: Omtzigt Juliette G. C. , Los Frans J. , Hagenaars Adriana M. , Stewart Patricia A. , Sachs Eva S. , Lindhout Dick 
Published: March 2007

AbstractIn the context of a prospective study on the adverse effects of anti‐epileptic drugs on fetal outcome, we evaluated our experience with prenatal diagnosis by ultrasonography and α‐ fetoprotein (AFP) determination in amniotic fluid. We compared these results with AFP values in maternal serum obtained prior to amniocentesis. From November 1985 to July 1990, amniocentesis at 16–18 weeks of gestation was performed in 267 pregnancies of 237 different women using anti‐epileptic drugs. Among 92 pregnancies with maternal valproic acid use, five (including one concordantly affected monozygotic twin‐pair) were terminated because of a spina bifida aperta, all prenatally diagnosed by AFP determination and acetylcholinesterase electrophoresis in amniotic fluid. The maternal serum AFP level was raised (⩾ 2.5 multiples of the median (MOM) for singleton pregnancies and ⩾ 4.5 MOM for twin pregnancies) in only two of these five affected pregnancies. We emphasize that maternal serum AFP levels may be unreliable for prenatal screening for fetal neural tube defects in women taking valproate and recommend that amniocentesis and fetal ultrasound examination should be offered directly.
Rare non‐mosaic trisomies in chorionic villus tissue not confirmed at amniocentesis
Authors: Dorfmann Andrew D. , Perszyk Jeane , Robinson Patricia , Black Susan H. , Schulman Joseph D. 
Published: March 2007

AbstractThis paper reports eight cases of non‐mosaic, rare, and typically lethal trisomies diagnosed in chorionic villi and not confirmed by amniocentesis. Four cases were 47,XX, + 16; two cases were 47,XX, +2; one was 47,XX, + 12; and one was 47,XY, +7. There have been no known complications in any of these gestations. These eight cases were found in a series of approximately 12 000 samples processed in our laboratory (0.07 per cent). We conclude that (1) rare non‐mosaic trisomy not reflecting the fetal condition is an occasional source of diagnostic ambiguity in chorionic villus sampling; and (2) when encountered, a follow‐up amniocentesis should be recommended to the patient to confirm or rule out the abnormality. We propose the term ‘confined placental abnormality’ to describe non‐mosaic trisomies and other related abnormalities found only in chorionic tissue.
Analysis of chromosome 21 copy number in uncultured amniocytes by fluorescence in situ hybridization using a cosmid contig
Authors: Zheng Y. L. , Ferguson‐Smith M. A. , Warner J. P. , Erguson‐Smith M. E. , Sargent C. A. , Carter N. P. 
Published: March 2007

AbstractA comparison of the use of chromosome 21‐specific libraries, DOP‐PCR 21 paints, yeast artificial chromosome (YAC) clones, single cosmids, and a 21q cosmid contig as probes for the detection of the copy number of chromosome 21 in interphase cells by fluorescence in situ hybridization shows that the cosmid contig is a satisfactory probe for interphase analysis of chromosome 21. The contig cCMP21.a, which is 55 kb in length, is highly chromosome 21‐specific and produces intense, compact signals in a high proportion of interphase cells. A retrospective blind analysis of coded uncultured amniotic fluid samples correctly detected four trisomy 21 cases out of 49 samples.
Prenatal diagnosis of monosomy 18 and ring chromosome 18 mosaicism
Authors: Eiben B. , Unger M. , Stoltenberg G. , Rutt G. , Goebel R. , Meyer A. , Gamerdinger U. , Hammans W. , Hansen S. , Hauss H. , Vogel M. , Schwanitz G. 
Published: March 2007

AbstractThe case of monosomy 18/ring chromosome 18 mosaicism which was detected prenatally by amniocentesis is presented. The pregnancy was terminated in week 18. Autopsy showed complex malformation of the fetus consisting of cebocephaly, hypotelorism, microphthalmia, severe defects of brain development, and arrest of placental maturation.
Prenatal diagnosis of metabolic diseases on chorionic villi obtained before the ninth week of pregnancy
Authors: Minelli A. , Piantanida M. , Simoni G. , Rossella F. , Romitti L. , Brambati B. , Danesino C. 
Published: March 2007

AbstractNine pregnancies at risk for various metabolic disorders were monitored by prenatal diagnosis on chorionic villi obtained between the sixth and ninth weeks of pregnancy. A diagnosis of an affected fetus was made in five cases (Sandhoff, Tay—Sachs (2), Pompe's, GMI), while metachromatic leukodystrophy, GM1 (2), and Pompe's were excluded in four cases. It is concluded that chorionic villi are a reliable tissue for prenatal diagnosis of metabolic disorders also when obtained before the ninth week.
Chromosomal abnormalities associated with a single umbilical artery
Authors: Khong T. Y. , George K. 
Published: March 2007

AbstractA single umbilical artery was seen in 10 out of 117 cytogenetically abnormal pregnancies. The abnormal karyotypes found to be associated with a single umbilical artery were trisomy 18 (n = 5), monosomy X (n = 2), triploidy (n = 1), sex chromosome (47,XYY; n = 1) and translocation (46t(X,5)(q13p15); n = 1). With the exception of the translocation case, all cases with a single umbilical artery had anatomical defects which were detectable ultrasonographically. This suggests that a single umbilical artery alone is not an indication for prenatal fetal karyotyping.
Prenatal diagnosis of Pallister–Killian syndrome: Resolution of cytogenetic ambiguity by use of fluorescent in situ hybridization
Authors: McLean S. , Stanley W. , Stern H. , Fonda‐Allen J. , Devine G. , Ellingham T. , Rosenbaum K. 
Published: March 2007

AbstractWe report a case of Pallister‐Killian syndrome initially diagnosed prenatally as tetrasomy 21. A 33‐year‐old primiparous woman was noted at 24 weeks' gestation to have moderate polyhydramnios. Ultrasonography showed diminished fetal stomach filling, hydronephrosis, and prominence of the cisterna magna. Cytogenetic analysis of cultured amniocytes was initially interpreted as mosaic tetrasomy 21: 46,XX/47,XX,+i(21q). The patient was then referred to our centre for genetic counselling. At 34 weeks' gestation, a dysmorphic infant was delivered and died within 30 min. Physical features were consistent with the Pallister‐Killian syndrome. Renal, gastrointestinal, and central nervous system anomalies were found at post‐mortem examination. Analysis of peripheral lymphocytes revealed 5 per cent of cells with a marker chromosome, while 92 per cent of cultured fibroblasts had this same marker. Fluorescent in situ hybridization (FISH) using an alpha‐satellite probe for chromosomes 13 and 21 failed to hybridize to the marker, while a chromosome 12 centromeric probe unequivocally identified it as an i(12p). Use of FISH can provide rapid, specific prenatal diagnosis of ambiguous marker chromosomes and improve prenatal counselling.
Fetal presentation of morquio disease type A
Authors: Beck Michael , Braun Susanne , Coerdt Wiltrud , Merz Eberhard , Young Elisabeth , Sewell Adrian C. 
Published: March 2007

AbstractA fetus with mucopolysaccharidosis type IV A (Morquio type A) is described. The family had one affected child exhibiting symptoms of classical Morquio A disease, and late in the subsequent pregnancy prenatal diagnosis was requested. At 23 weeks' gestation, moderate ascites was detected by detailed ultrasound scan and keratan sulphate was found in the amniotic fluid. The pregnancy was terminated by prostaglandin induction and the diagnosis of mucopolysaccharidosis type IV A was confirmed by demonstration of a deficiency of N‐acetylgalactosamine‐6‐sulphate (GalNac‐6‐S) sulphatase in cultured amniotic cells and in post‐mortem fibroblast cultures. The activities of β‐galactosidase and arylsulphatase A were normal, ruling out Morquio disease type B and multiple sulphatase deficiency. These results indicate that mucopolysaccharidosis IV A (a disease that predominantly affects the skeletal system) may produce ascites in the fetus to such an extent that it can be detected by ultrasound.
Reproductive behaviour and prenatal diagnosis following genetic termination of pregnancy in women of advanced maternal age
Authors: Brandenburg H. , De Koning W. , Jahoda M. G. J. , Stijnen Th. , De Ridder M. A. J. , Sachs E. S. , Wladimiroff J. W. 
Published: March 2007

AbstractOne hundred and fifty‐one women of advanced maternal age who underwent genetic termination of pregnancy (TOP) were studied for their reproductive behaviour and the type of procedure for prenatal diagnosis in a subsequent pregnancy. A total of 59 women (39 per cent) had a further pregnancy. In all continuing pregnancies prenatal diagnosis was performed, of which 75 per cent consisted of chorionic villus sampling (CVS). Reproductive behaviour following a genetic termination was negatively correlated with maternal age and parity. Both reproductive behaviour and the choice to undergo a diagnostic procedure in the next pregnancy were independent of the type of diagnostic procedure in the previous affected pregnancy.
Prenatal detection of 45,X/46,XX/47,XXX mosaicism through amniocentesis: Mosaicism confirmed in cord blood, amnion, and chorion
Authors: Schwartz S. , Raffel L. J. 
Published: March 2007

AbstractSex chromosome mosaicism in amniotic fluid cells poses a serious dilemma in prenatal diagnosis. Chromosome analysis of 56 primary clones of amniocytes revealed three distinct cell lines. Nine cells (16.1 per cent) demonstrated a 45,X karyotype, 11 cells (19.6 per cent) a 47,XXX karyotype, and the remaining 36 cells (64.3 per cent) had a modal number of 46 chromosomes (46,XX). Cytogenetic evaluation of 100 cells from cord blood, amnion, and chorion following delivery confirmed this triple mosaicism. However, the distribution of the three karyotypes in the pre‐ and postnatal samples was not found in the same proportions. The cord blood had the most similar frequency to that of the amniotic fluid sample, while the chorion had a significantly increased frequency of 47,XXX cells (41 per cent) and a decreased frequency of 45,X cells (2 per cent). Physical examination of the infant at birth revealed no discernible phenotypic abnormalities. Parental karyotypes were normal. This case highlights the difficulty in determining whether a prenatally detected abnormality will be associated with postnatal phenotypic deviation.
Prenatal diagnosis of Huntington's disease (HD): Experiences with six cases and PCR
Authors: Thies Ulrike , Zühlke Christine , Bockel Barbara , Schröder Kirsten 
Published: March 2007

AbstractIn the course of a 2‐year predictive testing programme for Huntington's disease (HD), six couples from a total of 52 applicants requested prenatal testing. In each case, the pregnancy was in the first or second trimester when the couples were referred for DNA diagnosis. In five cases, exclusion testing was offered; in one case, a person at risk with an increased risk of being a gene carrier requested prenatal diagnosis. In all cases, informative markers for prenatal testing could be determined. Whenever possible, the newer technique of polymerase chain reaction (PCR) for D4S125 was applied to perform rapid prenatal diagnosis. Two couples withdrew before chorionic villus sampling was undertaken; prenatal diagnosis was completed in the remaining four cases. After exclusion testing, two pregnancies were determined to have an increased risk and two fetuses to have a low risk of being HD gene carriers.
Second‐trimester cancer antigen 125 and Down's syndrome
Authors: Van Blerk M. , Smitz J. , De Catte L. , Kumps C. , Van Der Elst J. , Van Steirteghem A. C. 
Published: March 2007

AbstractThis study explores if assay of cancer antigen 125 (CA 125) in maternal serum might aid the detection of Down's syndrome in the second trimester of pregnancy. CA 125 levels were determined retrospectively in stored maternal serum samples from ten Down's syndrome pregnancies and 78 controls matched for gestational and maternal age. In addition, second‐trimester amniotic fluid samples from nine Down's syndrome and 109 unaffected pregnancies were analysed for CA 125. Maternal serum CA 125 values for Down's syndrome pregnancies were lower, with the median being 0.72 multiples of the unaffected population median. The medians for affected and unaffected pregnancies did not differ significantly and there was a considerable overlap in the range of values of cases and controls. The distribution of amniotic fluid CA 125 levels for Down's syndrome pregnancies resembled that for controls. From our present results, we could not find an association between Down's syndrome and second‐trimester maternal serum or amniotic fluid CA 125 levels.
Prenatal detection of multiple copies of a familial supernumerary marker chromosome
Authors: Wolstenholme J. , Brummitt J. A. , English C. J. , Goodship J. A. 
Published: March 2007

AbstractDirect preparations and long‐term cultures from a chorion villus biopsy, taken because of a known maternal additional marker chromosome, showed a 48,XX,+mar,+mar karyotype in all cells examined. The same karyotype was revealed in a subsequent amniotic fluid sample and in cord blood at delivery. Detailed examination of the child at delivery and at 1 year of age showed no evidence of phenotypic abnormality or developmental problems.
Fetal blood sampling and cytogenetic abnormalities
Authors: Liou Jui‐Der , Chen Chih‐Ping , Breg W. Roy , Hobbins John C. , Mahoney Maurice J. , Yang‐Feng Teresa L. 
Published: March 2007

AbstractFrom September 1984 to April 1991, we performed cytogenetic analysis on fetal blood samples from 214 second‐and third‐trimester pregnancies. One hundred and thirty‐four cases were referred to consider the possibility of chromosomal mosaicism following amniocyte studies. The confirmation rate of mosaicism is at 0 per cent (0/9), 1·4 per cent (1/70), and 40 per cent (22/55) for cases of level I, level II, and level III mosaicism, respectively. Four out of 17 cases were positive for the diagnosis of fragile X syndrome. Of 63 cases with abnormal ultrasound findings, blood disorders, or other genetically related clinical conditions, 11 were found to have a chromosome abnormality. Fetal blood sampling is a valuable adjunct to other methods in the prenatal diagnosis of chromosomal mosaicism or pseudomosaicism. It is also useful when rapid cytogenetic diagnosis is desired because of malformations detected in pregnancies at a late gestational age.
An association between fetal abdominal wall defects and elevated levels of human chorionic gonadotropin in mid‐trimester
Authors: Schmidt D. , Rose E. , Greenberg F. 
Published: March 2007

AbstractWe analysed maternal serum human chorionic gonadotropin (hCG) in 16 pregnancies with fetal abdominal wall defects previously identified prenatally by elevated maternal serum alpha‐fetoprotein (AFP) or at birth. The AFP levels had a mean of 6·38 MOM (range 0·34–15·65), as expected with these defects. The hCG levels had a mean of 1·82 MOM (range 0·23–4·11). The hCG levels in five pregnancies (31·25 per cent) were above 2·30 MOM. Elevated levels of hCG may be associated with fetal abdominal wall defects.
Early genetic amniocentesis—4 years' experience
Authors: Kerber S. , Held K. R. 
Published: March 2007

AbstractFour hundred and thirty early amniocenteses (EAC) from 10 to 14 weeks' gestation were compared with 300 routine amniocenteses (RAC) from 15 weeks' gestation (control A) and 733 routine amniocenteses from 16 to 18 weeks' gestation (control B) with regard to success rates, various growth parameters, and cytogenetic results. Using both in situ and trypsiniz‐ation techniques, the success rate was 99·8 per cent for EAC versus 100 per cent for RAC. The average turn‐around time for establishing a diagnosis was 8·4 days in EAC versus 8·3 days in 15 weeks' specimens (n.s.) and 7·7 days in 16 to 18 weeks' specimens (p ≦ 0·0001) for the last 200 samples. The banding quality of early specimens compared favourably with that of controls (both 500–550 bphs) and was much better than that in long‐term cultured chorionic villus sampling (CVS) (350–400 bphs). For level I and level II mosaicism, no statistically significant differences were noted between EAC and control group A. Comparing EAC with control group B, a significant increase in the number of numerical and structural single cell aberrations was observed (p ≦ 0·025 and p ≦ 0·001, respectively), whereas for multiple cell aberrations only the increase in numerical aberrations was statistically significant (p ≦ 0·001) (x2‐test). Clinical problems arising from the detection of mosaicism were solved in all cases by investigating parallel cultures. It is concluded that early amniocentesis is a reliable procedure which permits prenatal diagnosis of numerical and structural chromosome aberrations to a high standard.
Prospective maternal serum human chorionic gonadotropin screening for the risk of fetal chromosome anomalies and of subsequent fetal and neonatal deaths
Authors: Muller Françoise , Aegerter Philippe , Boue André 
Published: March 2007

AbstractA prospective study of maternal serum human chorionic gonadotrophin (hCG) measurement for the selection of pregnancies with an increased risk of fetal trisomy 21 was undertaken in 24 000 pregnancies from 1 January 1989 to 31 December 1990. Maternal serum was sampled at 15‐18 weeks of gestation. hCG was measured in one laboratory, with one technique. This ‘hCG high level’ technique was developed for this screening. Amniocentesis was offered to each woman with a maternal serum hCG level above the cut‐off. The follow‐up of the pregnancies is known in 92 per cent of cases. The combination of hCG values and maternal age gave a detection efficiency of 63 per cent for trisomy 21 with rates of amniocentesis of 30 per cent for patients aged 37 years, 20 per cent for patients aged 35 or 36 years, and 5 per cent for patients under 35 years of age. Based on this prospective study, an individual risk was calculated combining the serum hCG value and maternal age. Seventy‐four per cent of trisomy 13, trisomy 18, triploidy, and 5p‐ deletion were detected either in the same selected group of women or in combination with ultrasonography performed when hCG values were very low. The follow‐up study showed that women who had high or low hCG values represented a group at high risk for fetal or perinatal death.
Detection of both the normal and mutant alleles in single cells of individuals heterozygous for the sickle cell mutation—prelude to preimplantation diagnosis
Authors: Monk Marilyn , Kenealy Mary‐Rose , Mohadjerani Soad 
Published: March 2007

AbstractAs a preliminary step to preimplantation diagnosis of sickle cell disease in unfertilized eggs or 8‐cell embryos of heterozygous parents, we established quality control for detection of the mutant and normal alleles of the beta‐haemoglobin gene using single buccal cells. Efficient polymerase chain reaction (PCR) amplification of a 680 base pair sequence of the beta‐globin gene spanning the site of the sickle cell mutation was obtained for 79 per cent of single heterozygous cells. In 71 per cent of cases, both alleles were detected. With this current efficiency, we predict that a clinical preimplantation diagnosis at the 8‐cell embryo stage could be carried out safely and reliably for a couple at risk of transmitting sickle cell disease to their children.
Umbilical cord haemangioma associated with an eruptive cutaneous haemangioma in a female infant
Authors: Weyerts Leah K. , Jones Marilyn C. , Grafe Marjorie , Scioscia Angela L. 
Published: March 2007

AbstractWe report a female infant noted prenatally to have an umbilical cord mass. At birth, a labial strawberry haemangioma was noted. She subsequently developed an abdominal mass which was discovered to be a proliferating haemangioma, continuous with both the labial and the umbilical stump lesions.
Prenatal diagnosis of Dandy‐Walker malformation in a family displaying X‐linked inheritance
Authors: Cowles T. , Furman P. , Wilkins I. 
Published: March 2007

AbstractThe diagnosis of Dandy‐Walker malformation was made on the ultrasonographic evaluation of a 33‐week male fetus. Pedigree analysis revealed a family history of isolated Dandy‐Walker malformation in three other males, suggesting an X‐linked recessive inheritance pattern.