bluuebunny/crossref_metadata_2025 huggingface dataset:
Prenatal sonographic assessment of early, rapidly growing fetal cervical teratoma
Authors: Sherer David M. , Woods James R. , Abramowicz Jacques S. , Dipreta John A. , Metlay Leon A. , Jaffe Richard
Published: March 2007

Although malignant transformation of fetal cervical teratoma is extremely rare, perinatal morbidity is high and usually related to the size of the tumour, which may compromise fetal swallowing and subsequently lead to upper airway obstruction. We present a case in which mid‐trimester serial sonography demonstrated markedly rapid early growth of a lesion of this type between 17 and 19 weeks' gestation indicating the aggressive nature of this tumour, assisting parental decision to terminate the pregnancy. Histopathology confirmed grade 3 immaturity of the lesion.
Abnormal amniotic fluid levels of CA 125 in second‐trimester Down syndrome pregnancies
Authors: Borri Patrizia , Noci Ivo , Biagiotti Roberto , Torricelli Francesca , D'Agata Alberino , Croci Donatella , Branconi Francesco
Published: March 2007

The aim of this study was to evaluate the concentration of CA 125 in second trimester amniotic fluid from Down syndrome pregnancies. CA 125 was measured in stored amniotic fluid samples from pregnancies of 14–19 weeks' gestation with and without Down syndrome fetuses. CA 125 levels were expressed in multiples of the median (MOM) for normal pregnancies of the same gestational age. Twenty‐one pregnancies with Down syndrome fetuses and 63 unaffected controls matched for maternal age, gestational age, and duration of storage were studied. The median MOM values of the affected pregnancies were significantly higher than those of the controls (1·41 MOM versus 0·99 MOM). These findings show that there is an increased concentration of CA 125 in second‐trimester amniotic fluid from Down syndrome pregnancies.
Co‐amplification of the cystic fibrosis ΔF508 mutation with the HLA DQA1 sequence in single cell PCR: Implications for improved assessment of polar bodies and blastomeres in preimplantation diagnosis
Authors: Wu R. , Cuppens H. , Buyse I. , Decorte R. , Marynen P. , Gordts S. , Cassiman J. J.
Published: March 2007

We have developed a heminested PCR (polymerase chain reaction) method, performed on single cells, for the analysis of the most common cystic fibrosis (CF) mutation (AF508). As a quality control, the polymorphic exon 2 of the HLA DQA1 locus was co‐amplified from the same cell. With a non‐radioactive reverse dot‐blot assay, the genotype of these two loci could be determined. Experiments on 98 single fibroblasts, heterozygous for the CFTR and the DQA1 locus, showed that amplification of either locus could be obtained in 97 per cent of the cases, but only 90 per cent showed heterozygosity for CF, 75 per cent showed heterozygosity for DQA1, and 74 per cent showed heterozygosity for both CF and DQA1. Contaminations detected only after DQA1 typing occurred in 3 per cent of our samples. Error rate calculations based on our experimental PCR data indicate that single blastomere diagnosis would lead to unacceptable errors, i.e., an affected fetus, in less than 1 per cent of the cases. The risk of undetected crossing‐over or the dubious results that crossing‐over could generate, would make isolated polar body diagnosis at the present time very difficult. The combined approach of PCR on polar bodies followed by confirmation of the diagnosis on blastomeres, however, should give a solid base for preimplantation diagnosis of monogenic disorders.
Prenatal diagnosis of a multifocal lymphangioma
Authors: Giacalone P. L. , Boulot P. , Deschamps F. , Nagy P. , Hedon B. , Laffargue F. , Viala J. L.
Published: March 2007

Lymphangiomas or cystic hygromas are malformations of the lymphatic vessels and are characterized by single or multiple cysts which have developed within the soft tissues. They occur most commonly in the neck (75 per cent of cases) and are often associated with hydrops or chromosomal abnormalities (Romero et al, 1988). Mediastinal or abdominal locations are rare and represent less than 5 per cent of cases in the literature (Singh et al, 1971). This paper represents the first reported case of prenatal diagnosis of a lymphangioma in the neck, mediastinum, and abdomen. Diagnosis was made before fetal viability, and allowed us to recommend termination of the pregnancy because of the poor prognosis.
Duchenne muscular dystrophy associated with fetal pleural effusion and polyhydramnios
Authors: Vosatka Robert J. , Brown Gina , Moffitt Stephen T.
Published: March 2007

A case of fetal pleural effusion in a fetus affected with Duchenne muscular dystrophy (DMD) is reported. This case is discussed in the context of the previous observation of frequent stillbirths among male fetuses in DMD families.
Cytogenetic abnormalities among perinatal deaths demonstrating a single umbilical artery
Authors: Saller Devereux N. , Neiger Ran
Published: March 2007

The presence of a single umbilical artery is associated with fetal congenital malformations and cytogenetic abnormalities. The incidence of chromosomal abnormalities in perinatal deaths complicated by a single umbilical artery is unknown. We studied the proportion of cytogenetic abnormalities associated with a single umbilical artery among perinatal deaths undergoing autopsy. Of 1078 autopsies, 42 (3·9 per cent) were identified with a single umbilical artery. Chromosome analysis was attempted in 21 of the 42 cases (50 per cent). There were 16 successful chromosome analyses, of which three (18·75 per cent) were abnormal. All the chromosomally abnormal fetuses had major congenital malformations. These data suggest that in a perinatal death, the presence of a single umbilical artery does not clinically alter the a priori risk of cytogenetic abnormalities.
Prenatal identification of an isochromosome for the short arm of the Y i(Yp), by cytogenetic and Molecular analyses
Authors: Slim Rima , Soulié Joelle , Hotmar Jan , Lecolier Bertrand , Bercau Guy , Bernheim Alain
Published: March 2007

A case of 45,X/46,X,+mar mosaicism was detected in a male fetus (27 weeks' gestation) referred for karyotype analysis following the observation of a short femur at the ultrasound scan. Analysis of 12 Y‐chromosome loci by fluorescent in situ hybridization (FISH) and polymerase chain reaction (PCR) demonstrated that the marker chromosome is of Y origin and corresponds to an authentic isochromosome for the short arm of the Y chromosome, i(Yp). The breakpoint on this marker is in YQ11·1 close to the centromere. The present report illustrates the importance of FISH and PCR techniques as a complement to cytogenetic methods for accurate identification and characterization of chromosome rearrangements in prenatal diagnosis.
Methylenetetrahydrofolate reductase deficiency: Prenatal diagnosis and family studies
Authors: Marquet J. , Chadefaux B. , Bonnefont J. P. , Saudubray J. M. , Zittoun J.
Published: March 2007

Prenatal diagnosis of methylenetetrahydrofolate reductase (MTHFR) deficiency and family studies were performed because of a severely affected first child in this family. The fetus at risk was found to be heterozygous as confirmed by the enzymatic activity assay performed several times after birth. In the father, MTHFR activity was normal in lymphocytes and decreased in fibroblasts, whereas in the asymptomatic mother, the activity was not detectable in fibroblasts and was very low in lymphocytes. The absence of any clinical symptoms in the mother despite a clear MTHFR deficiency and hyperhomocystinemia emphasizes the heterogeneity of this disease.
Implications of maternal serum alpha‐fetoprotein elevation caused by transabdominal and transcervical CVS
Authors: Smidt‐Jensen Steen , Philip John , Zachary Julia M. , Fowler Sarah E. , Nørgaard‐Pedersen Bent
Published: March 2007

Of 2882 women allocated to either transabdominal CVS (TA) or transcervical CVS (TC) at two large obstetric centres in Denmark, 2707 had blood samples drawn before and 30 min after CVS for maternal serum‐alpha‐fetoprotein (MSAFP) measurement. 2535 of these women had cytogenetically normal pregnancies and 2091 of them went on to have samples drawn at the 18–20 week follow‐up. Post‐procedure MSAFP values were correlated to the biopsy method used, with mean MSAFP values significantly higher after TA than TC, 33 and 15 kU/l, respectively (P<0·001). Following TA procedures, 18 per cent of cases had feto‐maternal transfusion higher than 0·1 ml; this occurred in only 5 per cent of TC cases. MSAFP levels were associated with spontaneous fetal loss in the TA group but not in the TC group. TC, however, was followed by more losses than TA. The post‐CVS MSAFP value was positively correlated with the amount of villi aspirated. The difference in post‐procedure elevation in MSAFP 30 min later (average 18 kU/l higher for TA than for TC) was not reflected in raised levels at the 18–20 week follow‐up. Study medians at mid‐trimester did not differ from reference group medians established from a group of singleton pregnancies with sonographically determined gestational age who did not experience invasive procedures and delivered normal infants. Our findings suggest that CVS does not compromise mid‐trimester MSAFP for screening for neural tube defects (NTDs). Extremely high mid‐trimester MSAFP values in the TC group could predict imminent loss.
First‐trimester prenatal diagnosis in twin pregnancies
Authors: Christiaens G. C. M. L. , Oosterwijk J. C. , Stigter R. H. , Deutz‐Terlouw P. P. , Kneppers A. L. J. , Bakker E.
Published: March 2007

Two twin pregnancies at risk for a sex‐linked disorder are described. Both pregnancies were dichorionic. Transabdominal sampling was chosen for prenatal diagnosis. Molecular genetic techniques raised suspicion with regard to the accuracy of the samples in one case. Second‐trimester amniocentesis confirmed the error. Selective feticide of the affected fetus was performed. When first‐trimester prenatal diagnosis is offered in dichorionic twin pregnancies, confirmation through molecular genetic testing can confirm that villi have been obtained from different fetuses. All parties must be aware that additional invasive diagnostic procedures in the second trimester may be required in cases of doubt.
Hereditary multiple intestinal atresia—ultrasound findings and outcome of pregnancy in an affected case
Authors: Boyd P. A. , Chamberlain P. , Gould S. , Ives N. K. , Manning N. , Tsang T.
Published: March 2007

A case of multiple intestinal atresia is described. Dilatation of the bowel was observed at 17 weeks' gestation during routine ultrasound scan of a healthy Caucasian primigravida from a non‐consanguineous marriage. Amniocentesis was performed. The karyotype was normal male and cystic fibrosis screening was negative. Regular scans were performed throughout the pregnancy and a simple bowel obstruction was suspected. The baby was delivered at 37 weeks' gestation in good condition. Initial clinical examination was normal but abdominal distension developed during the first day. At laparotomy, prepyloric septal atresia, a distal duodenal membrane, and multiple intestinal atresia were found. The baby died aged 4 days. Post‐mortem examination of the abdomen confirmed the absence of lumen from long segments of the small intestine together with areas of colonic atresia. Histology and distribution were consistent with those reported in familial multiple intestinal atresia. The pitfalls in the interpretation of prenatal ultrasound scans and the possibility of prenatal diagnosis in future pregnancies are discussed.
Evaluation of X, Y, 18, and 13/21 alpha satellite DNA probes for interphase cytogenetic analysis of uncultured amniocytes by fluorescencein situhybridization
Authors: Cacheux V. , Tachdjian G. , Druart L. , Oury J. F. , Sérero S. , Blot P. , Nessmann C.
Published: March 2007

The major aneuploidies diagnosed prenatally involve the autosomes 13, 18, and 21, and sex chromosomes. Fluorescencein situhybridization (FISH) allows rapid analysis of chromosome copy number in interphase cells. This prospective study evaluated the use of four commercially available centromeric DNA probes (DXZ1, DYZ1, D18Z1, and D13Z1/D21Z1) for direct analysis of uncultured amniocytes. One hundred and sixteen amniotic fluid samples were analysed by FISH and standard cytogenetics. This evaluation demonstrated that FISH with, X, Y, and 18 alpha satellite DNA probes could accurately and rapidly detect aneuploidies involving these chromosomes and could be used in any prenatal clinical laboratory. In contrast, the 13/21 alpha satellite DNA probe hybridizing both chromosomes 13 and 21 was unreliable for prenatal diagnosis in uncultured amniocytes.
Maternal serum free beta hCG screening: Results of studies including 480 cases of down syndrome
Authors: Macri James N. , Spencer Kevin , Garver Kenneth , Buchanan Philip D. , Say Burhan , Carpenter Nancy J. , Muller Francoise , Boué Andre
Published: March 2007

The median maternal serum free beta human chorionic gonadotropin (hCG) multiple of the median (MOM) of 480 Down syndrome cases in the second trimester was 2·64, significantly greater than the reported median MOM of intact hCG (p<0·0001). In 234 of these cases from retrospective and prospective studies, the effectiveness of maternal serum free beta hCG was evaluated in combination with alpha‐fetoprotein (AFP) and maternal age in second‐trimester Down syndrome screening. Down syndrome detection in the gestational age range of 14–16 weeks was 82 per cent. In all gestational weeks (14–22), a 77·7 per cent Down syndrome detection rate was achieved. In prospective screening of 44 272 patients under the age of 35 years, 69 per cent of Down syndrome cases were detected (73 per cent in gestational weeks 14–16). The false‐positive rate for the prospective study was 3·8 per cent. The use of free beta hCG combined with maternal serum AFP and maternal age‐related risk for Down syndrome in a screening population (i.e., women under 35 years) yields an improved detection efficiency over other protocols.
Carrier detection and microsatellite analysis of duchenne and becker muscular dystrophy in spanish families
Authors: Kruyer Helena , Miranda Merce , Volpini Victor , Estivill Xavier
Published: March 2007

Duchenne and Becker muscular dystrophy (D/BMD) are usually problematical when trying to determine the carrier status of at‐risk women, which usually has to be based on haplotype or dosage analysis on Southern blots. Using multiplex polymerase chain reaction (PCR) analysis, we have detected deletions in 20 out of 44 D/BMD families with living affected members (45·5 per cent), more often in sporadic cases of DMD (14/22 with detectable deletion) than in familial ones (4/15), the majority (15/20) occurring in the distal region of the D/BMD gene. Four highly informative short tandem repeat polymorphisms (STRPs), which lie within the distal deletion hot spot of the D/BMD gene, can show loss of heterozygosity in carrier females, providing direct evidence of their carrier status. These STRPs greatly improve informativity, with a combined heterozygosity of 100 per cent and with the majority of families informative for three of the four STRPs. In 14/15 (93 per cent) of the families with distal deletions, the STRPs provided direct information on carrier status, and in some cases, they provide valuable information on recombination breakpoints and non‐paternity.
Early prenatal direct gene diagnosis of cystic fibrosis in a twin pregnancy and subsequent selective termination
Authors: Jørgensen Finn Stener , Bang Jens , Tranebjærg Lisbeth , Berge Lillian N. , Eik‐Nes Sturla H. , Schwartz Marianne
Published: March 2007

We present a case of prenatal diagnosis of cystic fibrosis (CF) in one twin at 11–12 weeks of gestation. The parents had previously had two children, one of whom is alive and healthy and one who died of CF at the age of 2½ months. The parents were both known to be carriers of the ΔF508 mutation. Chorionic villus sampling (CVS) was performed and direct gene analysis showed that one fetus was homozygous for the ΔF508 mutation, while the other fetus did not have the mutation at all. Both fetuses had normal karyotypes. Selective termination was subsequently performed. The pregnancy continued without complications except for mild pre‐eclampsia at term. The woman had a Caesarean section. The genetic diagnosis was confirmed after birth.
Transabdominal chorionic villus sampling and amniocentesis for prenatal diagnosis: 5 years' experience at a University Centre
Authors: Palo Pertti , Piiroinen Olli , Honkonen Erkki , Lakkala Taina , Aula Pertti
Published: March 2007

The fetal loss rates and fetal congenital birth defects in 821 transabdominal (TA) chorionic villus sampling (CVS) and 771 amniocentesis (AC) cases were evaluated from a 5‐year period (1987–1991) at the University Central Hospital of Turku. The parents were given the option of choosing between the two sampling procedures. CVS was performed, in most cases, at 11 weeks of gestation; and AC, at 15 weeks. The rate of total post‐procedure loss was 6·7 per cent in the CVS group and 4·4 per cent in the AC group (p=0·08). The rate of spontaneous abortions was 1·9 per cent in the CVS group and 1·0 per cent in the AC group (p=0·10). The number of birth defects was low in both study groups. No limb reduction cases were observed. Mosaicism was noted in 14 CVS cases and in five AC cases. We conclude that TA‐CVS is a safe and practical alternative to AC in prenatal fetal karyotyping.
Tibial hemimelia syndrome: Prenatal diagnosis by real‐time ultrasound
Authors: Ramirez Mildred , Hecht Jacqueline T. , Taylor Suzanne , Wilkins Isabelle
Published: March 2007

The tibial hemimelia syndrome is a rare autosomal dominant condition associated with limb deficiencies. We recently diagnosed this condition in a pregnancy at 16·5 weeks' gestation by ultrasound and a positive family history. To our knowledge, this represents the first case to be detected prenatally.
A fetus with a parvovirus B19 infection and congenital anomalies
Authors: Tiessen R. G. , van Elsacker‐Niele A. M. W. , Vermeij‐Keers Chr. , Oepkes D. , van Roosmalen J. , Gorsira M. C. B.
Published: March 2007

A fetus with multiple structural defects was seen at prenatal ultrasound examination. After termination of the pregnancy a bilateral cleft lip, alveolus, and palate; micrognathia; and webbed joints were seen. Fetal tissues showed indications of infection, intranuclear inclusion bodies, chronic stress, haemolysis, arterial wall damage, and profuse haemorrhage. Parvovirus B19 DNA was detected in fetal tissues by dot hybridization after polymerase chain reaction. The possibility of parvovirus B19 infection leading to congenital malformations is discussed.
The importance of late pregnancy scans for renal tract abnormalities
Authors: Economou G. , Egginton J. A. , Brookfield D. S. K.
Published: March 2007

A 12‐month prospective population study of antenatal patients was undertaken in a large district general hospital to assess ultrasound scanning in late pregnancy for the detection of non‐lethal fetal renal abnormalities. The rate of false‐negative antenatal scans during the study period was also assessed. Both 18–20 and 28–32 weeks' gestational scans were performed on 6497 pregnant women. Forty fetuses with a suspected abnormality were referred for postnatal examination and 29 neonates were found to have renal abnormalities. Of these, 21 were significant and eight were likely to be extrarenal pelves. In six, there was evidence of an abnormality at the early scan. Nine children, seven with reflux, presented within the study period, all with preceding normal antenatal scans. The incidence (0·46 per cent) of structural renal abnormalities is similar to that reported previously. A late scan is necessary for the antenatal detection of non‐lethal renal abnormalities.
Human parvovirus B19 infection and unbalanced translocation in a case of hydrops fetalis
Authors: Willekes Christine , Roumen Frans J. M. E. , van Elsacker‐Niele Anne‐Marie W. , Weiland Harro T. , Vermey‐Keers Christl , van Krieken Johan H. J. M. , de Die‐Smulders Christine E. M. , Hamers Guus J. H. , Vaes‐Peters Gerrie P. M.
Published: March 2007

In a case of hydrops fetalis, serological examination showed a recent maternal human parvovirus B19 infection. Amniocentesis revealed a unique unbalanced translocation between chromosomes 3 and 11 of the fetus. The mother proved to have a balanced reciprocal translocation between chromosomes 3 and 11. A grossly macerated hydropic male fetus was delivered with a flat nose and low implanted deformed ears. Histopathological examination revealed nuclear inclusion bodies in fetal erythroid cells, confirming human parvovirus B19 infection. Parvovirus B19 DNA was demonstrated by in situ hybridization in the nuclei of heart muscle cells. Our finding of two different disorders in one case illustrates the importance of a complete evaluation of every case of hydrops fetalis, especially concerning counselling on the outcome of future pregnancies. The human parvovirus B19 infection will not recur due to the acquired immunity of the mother, whereas the balanced reciprocal translocation will endanger future pregnancies.
Prenatal diagnosis of congenital diaphragmatic hernia: A retrospective analysis of 28 cases
Authors: Manni M. , Heydanus R. , Den Hollander N. S. , Stewart P. A. , de Vogelaere Ch. , Wladimiroff J. W.
Published: March 2007

In a retrospective analysis of 28 cases of fetal diaphragmatic hernia, overall mortality was 86 per cent, but fell to 70 per cent when multiple anomalies were excluded. Congenital heart disease constituted the majority of associated anomalies. The incidence of an abnormal karyotype was 10·5 per cent, but rose to 20 per cent when only fetuses with multiple anomalies were included. Polyhydramnios, which occurred in 75 per cent, was a poor predictor of fetal outcome. The same applied to the intrathoracic position of the fetal stomach. In all four survivors, diaphragmatic hernia was diagnosed beyond 32 weeks of gestation.
Fetal diagnosis of toxoplasmosis in 190 women infected during pregnancy
Authors: Pratlong Francine , Boulot Pierre , Issert Eric , Msika Martine , Dupont Frédéric , Bachelard Bruno , Sarda Pierre , Viala Jean‐Louis , Jarry Daniel
Published: March 2007

One hundred and ninety women who contracted toxoplasmosis after the seventh week of pregnancy underwent antenatal diagnosis, including ultrasound examination and biological tests. Tests included Toxoplasma isolation in fetal blood and amniotic fluid by mouse inoculation, specific IgM and IgA in fetal blood, and non‐specific tests. Twenty fetuses had positive specific as well as non‐specific tests for Toxoplasma infection. At birth, four of these presented with clinical congenital toxoplasmosis and 12 with subclinical forms. Antenatal diagnosis enabled the detection of 83 per cent of the infected fetuses. Under specific conditions, cordocentesis permits early diagnosis and considerably reduces the number of terminations of pregnancy.
The influence of serum screening on the amniocentesis rate in women of advanced maternal age
Authors: Beekhuis J. R. , de Wolf B. T. H. M. , Mantingh A. , Heringa M. P.
Published: March 2007

We investigated the effect of maternal serum screening on the amniocentesis (AC) rate in women of advanced maternal age. The AC rate after maternal serum screening was compared in two groups of women with a singleton pregnancy, 855 women of 30–35 years and 98 of 36 years and older. In our population, 34·1 per cent of the women of 36 years or older were ‘screen‐positive’ for Down syndrome. Only 41·2 per cent of these women chose to undergo AC as opposed to 88·2 per cent in the younger age group. Within the older age group, the tendency to avoid AC increased with increasing age. Maternal serum screening led to a significant decrease in the AC rate in the older women. In this group, a comparison between the ‘a priori’ and the calculated risk might have had more influence on the decision to undergo AC than being screen‐positive or screen‐negative as such. We conclude that maternal serum screening had a major effect on the AC rate in women of advanced maternal age. This is of importance in a society in which the average maternal age is steadily increasing.
Maternal serum human chorionic gonadotrophin and pregnancy‐associated plasma protein a, markers for fetal down syndrome at 8–14 weeks
Authors: Macintosh M. C. M. , Iles R. , Teisner B. , Sharma K. , Chard T. , Grudzinskas J. G. , Ward R. H. T. , Muller F.
Published: March 2007

Maternal serum levels of human chorionic gonadotrophin and its subunits (intact, α, and free βhCG) and pregnancy‐associated plasma protein A (PAPP‐A) were measured in 279 women between 8 and 14 weeks' gestation. This group included 23 pregnancies in which the fetus had Down syndrome (DS), diagnosed either at birth or during the second trimester (n=17) or from chorionic villus sampling (CVS) (n=6). Normal medians were determined from the 258 apparently normal pregnancies. The median levels of intact hCG (1·4 MOM) and free βhCG (2·1 MOM) were significantly raised, whereas the median level of PAPP‐A (0·39 MOM) was significantly lower in the DS pregnancies when compared with the control group. Levels of αhCG were similar in both the control and the DS pregnancies. Analysis of samples taken prior to 14 weeks' gestation demonstrated that only PAPP‐A (0·34 MOM) was significantly altered in DS pregnancies. However, after the exclusion of DS cases diagnosed at CVS, the median intact hCG (1·56 MOM), free βhCG (2·27 MOM), and αhCG (1·8 MOM) were all raised in DS pregnancies. This emphasizes the problem of the interpretation of biochemical markers when DS cases are diagnosed at CVS.
Significance of septations in isolated fetal cystic hygroma detected in the first trimester
Authors: Shulman Lee P. , Raafat Nabil A. , Mace Phyllis C. , Emerson Donald S. , Felker Richard E. , Simpson Joe Leigh , Elias Sherman
Published: March 2007

Recent reports have indicated an increased risk for fetal chromosome abnormalities, especially autosomal trisomy, in fetuses with isolated cystic hygroma, or prominent nuchal membranes, detected by ultrasonography during the first trimester. However, these reports present contradictory information regarding the prognostic significance of septations within the cystic hygroma. We evaluated, in blind fashion, 55 consecutive cases of isolatd fetal cystic hygroma detected at or before 13·9 weeks' gestation to determine the association between septations and fetal chromosome complement. Septations were associated (P<0·05) with an increased risk for fetal chromosome abnormalities. However, the incidence of chromosome abnormalities was also increased (12·5 per cent) among cases not characterized by septations. Thus, we believe it prudent to offer invasive prenatal testing to all women found to be carrying fetuses with cystic hygroma, irrespective of the presence or absence of septations.
A quantitative estimation of the effect of prenatal diagnosis in dizygotic twin pregnancies in women of advanced maternal age
Authors: Brandenburg H. , Van Meulen J. H. P. Der , Jahoda M. G. J. , Wladimiroff J. W. , Niermeijer M. , Habbema J. D. F.
Published: March 2007

Genetic counselling in a dizygotic twin pregnancy is complicated by the large number of possible pregnancy outcomes and by the conceivable differences in the parental valuation of these outcomes. We present the probability distributions of the pregnancy outcomes in dizygotic twin pregnancies for women from 35 to 45 years old without prenatal diagnosis and with transabdominal chorionic villus sampling (TA‐CVS) or amniocentesis (AC), using data from the literature. TA‐CVS always gives a higher probability of a favourable pregnancy outcome (the birth of one or two infants with a normal karyotype) than AC. For a 35‐year‐old woman, a 0·7 per cent risk of an unfavourable pregnancy outcome without prenatal diagnosis has to be weighed against the 2·1 per cent excess risk of loss of the entire pregnancy after TA‐CVS. For a 45‐year‐old woman, a 10·2 per cent risk of an unfavourable pregnancy outcome without TA‐CVS has to be balanced against a 4·4 per cent excess risk of pregnancy loss after TA‐CVS. This study provides a quantitative tool for the support of individual parents with respect to the decision to undergo prenatal diagnosis in a dizygotic twin pregnancy.
The predictive value of cytogenetic diagnosis after CVS based on 4860 cases with both direct and culture methods
Authors: Pittalis M. C. , Dalprà L. , Torricelli F. , Rizzo N. , Nocera G. , Cariati E. , Santarini L. , Tibiletti M. G. , Agosti S. , Bovicelli L. , Forabosco A.
Published: March 2007

Cytogenetic analysis was performed in 4860 chorionic villus samples by means of both direct preparation and long‐term culture. The results of the analysis were compared with a classification including all theoretical types of combinations between the chromosomal constitution of the cytotrophoblast, extraembryonal mesoderm, and fetus, with the aim of evaluating the cytogenetic variability along the trophoblast—embryo axis. Eighteen of 29 possible combinations were found demonstrating a considerable heterogeneity. A mosaic conceptus was found in 1·5 per cent of cases, with generalized mosaicisms and confined mosaicisms in 0·2 and 1·3 per cent, respectively. Cytogenetic variability along the trophoblast—embryo axis was found in 1·42 per cent of cases. Results possibly leading to diagnostic errors (false‐positive and false‐negative results) were found in only 1·38 per cent. False‐positive results of direct preparation were the most commonly observed discrepancy (0·8 per cent), while the incidence of false‐positive results of the culture method and of both methods was 0·31 and 0·16 per cent respectively. The incidence of false‐negative results was 0·1 per cent, with false‐negative results of direct preparation 0·08 per cent and false‐negative results of both methods 0·02 per cent. False‐negative results of the culture method were not found. Our data confirm the high diagnostic accuracy of chorionic villus sampling and the utility of the combined use of the two methods in minimizing diagnostic errors and in reducing the need for follow‐up amniocentesis.
Prenatal diagnosis of X‐linked retinitis pigmentosa (RP) in five pregnancies at risk
Authors: Iampieri Maria Paola , Mingarelli Rita , Guern Eric Le , Novelli Giuseppe , Dallapiccola Bruno
Published: March 2007

Five pregnancies at risk for X‐linked retinitis pigmentosa (RP) have been monitored by first‐trimester prenatal diagnosis using DNA markers flanking the RP2 and RP3 loci. Three affected and two unaffected fetuses, including a female carrying a wild‐type genotype, were predicted on the basis of marker segregation and estimation of the recombination fraction.
Prenatal echocardiographic diagnosis of right atrial isomerism
Authors: Colloridi V. , Pizzuto F. , Ventriglia F. , Giancotti A. , Pachi A. , Gallo P.
Published: March 2007

A prenatal diagnosis of right atrial isomerism is often inferred through the recognition of a constellation of cardiac anomalies on the four‐chamber view or by the detection of visceral heterotaxy and asplenia. However, the actual occurrence of discordance between the arrangement of the atria and thoracic and abdominal organs makes the identification of the morphology of both atrial appendages the only reliable way to make a final diagnosis of atrial isomerism. Three cases of right atrial isomerism with visceral heterotaxy and a complex cardiac defect, diagnosed in utero by cross‐sectional and colour flow Doppler echocardiography, are reported. In all the patients, the right atrial isomerism was associated with an atrioventricular septal defect, a single aortic outlet from the right ventricle, and total anomalous venous return. The diagnosis of right atrial isomerism, always confirmed by neonatal re‐evaluation and/or by post‐mortem examination, was made through identifying two pyramidal atrial appendages in an echocardiographic transverse plane at the level of the atria and of the origin of the great arteries. This report demonstrates that a final intrauterine diagnosis of atrial isomerism is possible, whatever the visceral situs is.
Hepatic calcifications in a fetus with trisomy 9 that underwent cordocentesis
Authors: Satge D. , Gasser B. , Geneix A. , Malet P. , Stoll C.
Published: March 2007

Foci of calcification were observed at autopsy in the liver of a fetus with complete trisomy 9 on which two cordocenteses had been performed. It is suggested that liver calcifications are a possible complication of the procedure. As several other cases of calcifications in the liver and other organs of fetuses with autosomal trisomies have been described without a history of cordocentesis, further studies should be carried out to determine whether fetuses with chromosomal anomalies are more prone to thrombus formation and embolization.
Prenatal diagnosis of twin zygosity by DNA ‘fingerprint’ analysis
Authors: Appelman Z. , Manor M. , Magal N. , Caspi B. , Shohat M. , Blickstein I.
Published: March 2007

A twin pregnancy with one hydrocephalic fetus with oligohydramnios is presented. Sonographic evaluation could not exclude monochorionicity. Before considering selective feticide, blood samples from both fetuses were examined for DNA ‘fingerprint’ analysis. The different banding patterns of the blood samples established dizygosity. This procedure is suggested in cases where sonography fails to determine chorionicity.
A rare case of cytogenetic discrepancy between extraembryonic and fetal tissue
Authors: Torricelli F. , Lisi E. , Brizzi L. , Mariani M. , Nannini R. , Cariati E.
Published: March 2007

We present a case of false‐negative discrepancy between extraembryonic and fetal tissue sampled at 14 weeks of amenorrhoea when ultrasound examination showed morphological anomalies of the fetus. The same cytogenetic characteristic was confirmed on tissue samples after abortion.
Chorionic villus sampling utilization following reports of a possible association with fetal limb defects
Authors: Cutillo Denise M. , Hammond Elizabeth A. , Reeser Suzanne L. , Kershner Melissa A. , Lukin Barbara , Godmilow Lynn , Donnenfeld Alan E.
Published: March 2007

Prenatal diagnosis choices were reviewed in 473 women who presented for genetic counselling prior to 11 weeks' gestation for the indication of advanced maternal age. Group A consisted of 336 patients who were unaware of a possible association between chorionic villus sampling (CVS) and limb defects. Group B consisted of 137 patients who were provided this information. Fifty‐one per cent of patients in group A and 45 per cent of patients in group B chose CVS. This difference was not significant by χ2 analysis (P = 0·7). Patterns of prenatal diagnosis procedure utilization from 1987 to 1992 revealed a significant reduction in CVS utilization accompanied by a corresponding increase in amniocentesis after the association between CVS and limb defects was publicized. Referrals for CVS counselling also significantly declined. However, acceptance rates did not change for those patients who received genetic counselling. First‐trimester genetic counselling, including a discussion regarding a possible association between CVS and limb defects, helps patients make informed decisions concerning prenatal diagnosis options, and, in our population, resulted in no change in CVS acceptance rates.
Prenatal diagnosis of glutaryl‐CoA dehydrogenase deficiency: Experience using first‐trimester chorionic villus sampling
Authors: Christensen Ernst
Published: March 2007

We have performed prenatal diagnosis for glutaryl‐CoA dehydrogenase (GDH) deficiency in 16 pregnancies at risk by measuring the enzyme activity in chorionic villus samples. In most cases, GDH activity was measured both in uncultured chorionic villus samples and in cultured chorionic cells. In 4 of the 16 cases, an affected fetus was predicted, while the remaining cases were found to be normal. In three of the four affected cases, GDH activity was measured in both uncultured and cultured chorionic cells and the correct diagnosis established by both measurements. In the fourth case, only cultured cells were investigated because the chorionic villus sample was too small for the direct assay. All four pregnancies predicted to be affected were interrupted and the diagnoses confirmed on the aborted material in three of the cases. In the fourth case, no material was available for investigation. Of the 12 pregnancies predicted to be unaffected, ten cases resulted in the birth of healthy unaffected babies while two pregnancies are still in progress.
Confined placental mosaicism, IUGR, and adverse pregnancy outcome: A controlled retrospective U.K. collaborative survey
Authors: Wolstenholme J. , Rooney D. E. , Davison E. V.
Published: March 2007

In a retrospective collaborative study involving 21 U.K. laboratories and 11775 CVS prenatal diagnostic procedures, a total of 73 cases of confined placental mosaicism (CPM) were identified among the 8004 first‐trimester referrals because of advanced maternal age, a previous child with a numerical chromosome abnormality, or a family history of the same. Data were collected on subsequent cytogenetic follow‐up and pregnancy outcome for each case and a referral matched control. Comparison with the control population failed to demonstrate a marked increase in adverse pregnancy outcome in the CPM group, but a significant increase in both low and high birth weight infants was recorded. In a parallel study, 7 out of 108 cases, referred for prenatal diagnosis because of ultrasound detection of isolated intrauterine growth retardation (IUGR) in the second or third trimester, were shown to have a chromosome abnormality restricted to the extraembryonic tissues. These included cases of CPM involving trisomy 9 and del(13)(q13), neither of which has previously been reported in association with IUGR.
Cytogenetic analysis of chorionic villi for prenatal diagnosis: An ACC collaborative study of U.K. data
Authors:   ASSOCIATION OF CLINICAL CYTOGENETICISTS WORKING PARTY ON CHORIONIC VILLI IN PRENATAL DIAGNOSIS
Published: March 2007

A prospective 3‐year collaborative study was undertaken in 1987 to collect cytogenetic data from diagnostic chorionic villus samples (CVS) in the U.K. in order to determine the predictive value of the chromosome abnormalities encountered. Twenty‐seven laboratories contributed a total number of 7595 cases, of which 97·6 per cent were successful. Excluding single cell anomalies, a total of 480 cytogenetic abnormalities were reported, of which 137 were familial structural rearrangements and 343 were de novo problems. Non‐mosaic trisomies of chromosomes 13, 18, and 21 (n=157), non‐mosaic sex chromosome abnormalities (n=33), and triploidy (n=6) were all confirmed in cells of fetal origin where follow‐up information was available. Of the nine remaining non‐mosaics including tetraploidy, trisomies of other autosomes, and extra markers, only a trisomy 16 and a case of a supernumerary marker proved genuine. Eighty‐eight cases of mosaicism were reported to the study, of which only nine were confirmed as genuine: two cases involving chromosome 13, one trisomy 18, two examples of extra marker chromosomes, three 45,X, and one 47,XXX. There were no reports of false‐negative findings. Presumptive maternal cell contamination was encountered in 39 cases, a detected incidence of 0·5 per cent. Four cases of presumptive ‘vanishing twin’ were recorded: in three of these, direct preparations showed a female karyotype, whereas cultures indicated a male (with male fetuses in two cases). The fourth case was of a female fetus with male and female cells in the CVS cultures. Subtle structural chromosome abnormalities were missed in three instances. Accurate prediction of the fetal karyotype was shown to require detailed knowledge of both the nature and the distribution of abnormal cells in the extra‐embryonic tissues. In many cases, this could only be made where results from direct preparations and cultured cells were available. A number of conclusions were reached from these and similar data in the literature regarding the reliability of chromosome findings in CVS.
Examination of fetuses after induced abortion for fetal abnormality—a follow‐up study
Authors: Medeira A. , Norman A. , Haslam J. , Clayton‐Smith J. , Donnai D.
Published: March 2007

In the North‐Western Region we offer a service to examine fetuses aborted after the diagnosis of fetal abnormalities. Many obstetricians use this service. We examined 343 mid‐trimester fetuses over the last 5 years: 215 following an abnormal scan and 128 abnormal amniotic fluid or villus findings. When necessary, investigations were performed. A post‐mortem examination was always required. As a result of fetal investigation, the scan diagnosis was modified or refined in 91 cases (42·3 per cent). In three of these cases, no fetal abnormality was found. For the fetuses diagnosed as abnormal by amniocentesis or chorionic villus biopsy, in one (0·8 per cent) the pre‐termination diagnosis was not confirmed. The results were similar to those of our previous 5‐year study except (a) diagnosis of neural tube defects was rarely based on amniocentesis in the present study (2/62, 3·2 per cent) compared with the previous one (32/103, 31 per cent), and (b) renal abnormalities were more often diagnosed in the pre‐termination scan in the present study. We conclude that the examination of aborted mid‐trimester fetuses by dysmorphologists continues to improve diagnosis, allowing more accurate genetic counselling for the families.
Maternal serum inhibin levels in second‐trimester down's syndrome pregnancies
Authors: Cuckle H. S. , Holding S. , Jones R.
Published: March 2007

Maternal serum inhibin levels were measured in 19 second‐trimester pregnancies affected by fetal Down's syndrome and 95 unaffected control pregnancies matched for gestational age. A statistically significant elevation was found in the affected pregnancies compared with the controls (Wilcoxon rank sum test: one‐tail P=0·02). The median level in the cases was 1·3 times that in the controls, with 95 per cent confidence limits of 0·9–1·9. Although the inhibin levels were unrelated to those of alpha‐fetoprotein and unconjugated oestriol in the same samples, there was a statistically significant correlation with human chorionic gonadotropin. This together with the relatively small elevation in cases suggests that inhibin would be of limited value in maternal serum screening for Down's syndrome.
Multiple marker screen positivity in the presence of hydrops fetalis
Authors: Knowles Simon , Flett Peter
Published: March 2007

Three cases of hydrops fetalis presented in the second trimester as screen‐positive for Down syndrome using multiple maternal serum markers. One case was a karyotypically normal female; one case was a monosomy X (Turner syndrome); and one case was a trisomy 21 (Down syndrome). In each case, the maternal serum human chorionic gonadotrophin (hCG) was disproportionately elevated. These cases support the contention that hydrops fetalis of any aetiology may present as screen‐positive when using multiple maternal serum markers for Down syndrome. Further cases will be necessary before it can be determined whether a disproportionately elevated hCG is predictive of hydrops.
Prenatal diagnosis of focal nodular hyperplasia of the liver
Authors: Petrikovsky B. M. , Cohen H. L. , Scimeca Ph. , Bellucci E.
Published: March 2007

A case of focal nodular hyperplasia of the liver presenting in a 36‐week‐old fetus is reported. The tumour appeared on antenatal ultrasound as a 4·0 cm × 3·0 cm × 2·7 cm hypoechoic mass at the periphery of the right lobe of the liver. Colour Doppler imaging showed it to have prominent vascularity. Postnatally, sonography confirmed the presence of a vascular mass within the liver. The tumour was removed at laparotomy and was diagnosed as an area of focal nodular hyperplasia on histopathological examination.
Terminal deletion of Xp in a dysmorphic anencephalic fetus
Authors: Plaja A. , Vendrell T. , Sarret E. , Torán N. , Mediano C.
Published: March 2007

We report an anencephalic fetus with acrania, cervicodorsal rachischisis, and a 46,X,del(X)(p22·1) karyotype. Necropsy revealed a left diaphragmatic hernia, ipsilateral lung hypoplasia, and intestinal malrotation. The fetus also had horseshoe kidneys and adrenal gland hypoplasia with absence of the fetal zone.
Humerus and femur length in fetuses with down syndrome
Authors: Biagiotti Roberto , Periti Enrico , Cariati Ettore
Published: March 2007

The aim of the study was to assess the value of sonographic measurement of fetal humerus and femur lengths in the second trimester as a screening tool for Down syndrome (DS). We reviewed retrospectively fetal sonographic biometry made at the time of amniocentesis between 15 and 19 weeks. The study group consisted of 27 DS fetuses. The control group comprised 500 normal fetuses chosen randomly. The expected humeral and femoral lengths for a given biparietal diameter were estimated by linear regression equations from the 500 normal fetuses. Receiver operating characteristic curve analysis was performed to evaluate both the detection rate and the false‐positive rate of different cut‐off values of measured to expected lengths ratios. The median femur and humeral lengths in DS fetuses were 0·91 times the expected values. No significant differences in the detection rate and false‐positive rate were found between the humerus and femur lengths. When the humeral and femoral lengths were combined, we observed a remarkable reduction in the false‐positive rate. A measured to expected length ratio of 0·91 detected 44·4 per cent of DS fetuses with 7·6 per cent false positives. These results suggest that the combination of femoral and humeral lengths may permit a more efficient use of ultrasound in screening for Down syndrome than the use of either alone.
Prenatal diagnosis of fragile X syndrome: Management of the male fetus with a premutation
Authors: Strain Lisa , Porteous Mary E. M. , Gosden Christine M. , Ellis Patricia M. , Neilson James P. , Bonthron David T.
Published: March 2007

Direct detection of the fragile X mutation by DNA analysis has greatly simplified prenatal diagnosis of this disease. However, women carrying a fragile X premutation may pass their expanded trinucleotide repeat to sons without expansion to a full mutation. Such sons are predicted to be intellectually normal. In this situation, the accuracy with which the fetal status can be inferred from analysis of chorionic villus sample (CVS) DNA is unclear. We describe such a case, in which it was felt necessary to proceed to fetal blood sampling despite technically unambiguous DNA results from the CVS. The lack of prospective data means that this dilemma may be expected to recur over the next few years when performing prenatal diagnosis on fragile X premutation carriers.
Comparison of chorionic villus sampling and amniocentesis: Current status of prenatal diagnosis in Japan
Authors: Suzumori K. , Okada S. , Adachi R. , Iida T. , Sumi T. , Tanemura M. , Yagami Y.
Published: March 2007

Data were tabulated and compared for cases involving prenatal diagnostic procedures performed in the 8 years between January 1985 and December 1992. Of a total of 2781 pregnancies, 2546 cases (91·5 per cent) were diagnosed by amniocentesis, and 235 (8·5 per cent) by chorionic villus sampling (CVS). These findings reflect the fact that amniocentesis has taken deep root as the prenatal diagnostic procedure widely acknowledged by society, whereas even the existence of CVS has yet to be generally recognized. Analysis of our clinical and laboratory results and complication rates, however, suggests that CVS is a safe and accurate alternative to amniocentesis which should and can be positively presented to all patients who are candidates for prenatal diagnosis.