bluuebunny/crossref_metadata_2025 huggingface dataset:
A comparison of amniotic fluid alpha‐fetoprotein and acetylcholinesterase in the prenatal diagnosis of open neural tube defects and anterior abdominal wall defects
Authors: Loft Anne Gitte Rasmussen , Høgdall Estrid , Larsen Severin Olesen , Nørgaard‐Pedersen Bent
Published: March 2007

Amniotic fluid samples received for routine prenatal diagnosis of open neural tube defects were used for a study to compare amniotic fluid acetylcholinesterase (AChE) determination using a monoclonal antibody (4F19) enzyme antigen immunoassay and amniotic fluid alpha‐fetoprotein (AFP) measurement as diagnostic tests for open neural tube defects. The study was based on 9964 women with singleton pregnancies and known outcome (including 6 with anencephaly and 18 with open spina bifida) having an amniocentesis at 14–23 weeks of gestation. The AChE immunoassay yielded detection rates for anencephaly of 100 per cent (95 per cent confidence interval (CI) 54·07–100 per cent), for open spina bifida of 100 per cent (95 per cent CI 81·47–100 per cent), for anterior abdominal wall defects of 20 per cent (95 per cent CI 0‐51‐71‐64 per cent), and a false‐positive rate of 0·22 percent (95 per cent CI 0·14–0·34 per cent) excluding anencephaly, open spina bifida, and anterior abdominal wall defects. For similar detection rates the false‐positive rate of the AFP test was significantly higher, 0·74 per cent (95 per cent CI 0·58–0·94 per cent). On the basis of these findings, it is recommended that the technically simple AChE immunoassay should be used on all samples; the AFP test should only be used on the 0·5 per cent of the samples with concentrations of AChE activity ⩾ 8·5 nkat/1 for clear samples and blood‐stained samples becoming clear after centrifugation, and ⩾ 25·0 nkat/1 for blood‐stained samples that are discoloured after centrifugation; an AFP cut‐off level of 2·0 MOM is recommended for this policy. Thereby, the detection rates for anencephaly, open spina bifida, and anterior abdominal wall defects would be 100, 100, and 20 per cent, respectively (95 per cent CIs 54·07–100, 81·47–100, and 0·51–71·64 per cent, respectively), and the false‐positive rate would be 0·08 per cent (95 per cent CI 0·03–0·16 per cent) (excluding anencephaly, open spina bifida, and anterior abdominal wall defects).
Prenatal diagnosis and management of anterior abdominal wall defects in the West of Scotland
Authors: Morrow R. J. , Whittle M. J. , McNay Margaret B. , Raine P. A. M. , Gibson A. A. M. , Crossley Jenny
Published: March 2007

An attempt was made to identify all the cases of abdominal wall defects occurring in the West of Scotland over a 7‐year period to determine the current incidence, prenatal diagnosis, management, and prognosis for fetuses and neonates with abdominal wall defects. Cases were identified because they presented either for prenatal diagnosis, or to the Department of Pathology following termination or spontaneous pregnancy loss, or as neonates to the Neonatal Surgical Department. The incidence of abdominal wall defects was found to be 1 in 2500 births. Exomphalos was diagnosed before birth in 66 per cent of cases, and in 30 per cent of cases it was associated with another major abnormality. There was a 20 per cent intact survival in the cases diagnosed prenatally who had no fetal anomaly and who opted to continue with the pregnancy. Gastroschisis was diagnosed before delivery in 70 per cent of cases, and in the group who continued with the pregnancy there was an intact survival of 77 per cent. Body stalk anomalies were all diagnosed prenatally and terminated. Maternal serum alpha‐fetoprotein was elevated in 89 per cent of the cases with exomphalos and in 100 per cent of the cases with gastroschisis and body stalk anomalies in which it was tested.
Low‐dose sulprostone for pregnancy termination in cases of fetal abnormality
Authors: Kanhai Humphrey H. H. , Keirse Marc J. N. C.
Published: March 2007

Thirty‐two pregnancies (11 primi‐ and 21 multi‐gravid) with an abnormal fetus were terminated between 16 and 35 weeks (mean 22 weeks; median 20 weeks) and a continuous intravenous infusion of 1 μg of the prostaglandin analogue sulprostone. All pregnancies were terminated vaginally, 31 of them with this regimen in a median induction‐expulsion interval of 23 h (range 8–52 h). Complete expulsion of the placenta occurred in 72 per cent of cases. Median blood loss was 100 ml (range 20–2000 ml). There were only a few side‐effects. We conclude that this induction regimen is both appropriate and safe for pregnancy termination in cases of fetal anomaly.
Preterm delivery rate and fetal outcome in structurally affected twin pregnancies: A retrospective matched control study
Authors: Heydanus R. , Santema J. G. , Stewart P. A. , Mulder P. G. H. , Wladimiroff J. W.
Published: March 2007

Data from 23 twin pregnancies with one structurally affected fetus were compared with data from 23 twin pregnancies with proven absence of structural fetal anomalies and matched for maternal age, parity, and year of delivery. The preterm delivery rate ( < 37 weeks) was high in both groups but not significantly different (57 vs. 48 per cent). Perinatal mortality was significantly higher in the structurally affected twin pregnancies (65 vs. 9 per cent). In the affected twins, birth weight of the anomalous fetus was significantly lower than that of the normal co‐twin. Since there was no difference in the incidence of maternal disease (hypertensive disorders, diabetes), it was concluded that the higher perinatal mortality was determined mainly by the nature of the anomaly and not by the preterm delivery rate.
Complex mosaicism associated with trisomy 9
Authors: Smoleniec J. S. , Davies T. , Lunt P. , Berry P. J. , James D.
Published: March 2007

Fetal karyotypes can be routinely obtained by chorionic villus biopsy, amniocentesis, or fetal blood sampling. Interpretation of results and subsequent counselling can be complicated by pseudomosaicism or mosaicism confined to the placenta or other tissues. We illustrate this by reporting a case of an abnormal fetus with a total of three karyotypically different cell lines (46,XXrpar; 47,XX, + 9; and 47,XX, + del (9) (q11) in different tissues (placenta, lung, gonad, and skin).
Evaluation of amniotic fluid cell filtration: An experimental approach to early amniocentesis
Authors: Kennerknecht Ingo , Krämer Sabine , Grab Dieter , Terinde Rainer
Published: March 2007

Prior to a prospective application of amniotic fluid (AF) cell filtration to early amniocentesis, we tested the technique on a surplus from mid‐trimester samples. By using the same sample size of 5 ml in experiments with a filter and in routine diagnostic procedures (control), we evaluated an optimal filter system. The prolonged culture time of filtered cells and the reduced number of clones are most probably due to mechanical stress (filtration pressure), whereas loss of the cells by adhesion to the filter system, and an AF‐free culture medium (growth factors) are suggested to be less important. The AF cells are very sensitive to mechanical stress. Slow filtration (⩽3 ml AF/min) through filters with a high porosity and the largest possible pore size should be preferred. A mixed cellulose ester filter membrane with a pore size of 5·0 μm proved to be the most efficient, allowing harvest of the filtered cells after only a slight prolongation of the culture time (+2·4 days) compared with unfiltered aliquots. A filter set with a bypass connected by three‐way taps allows cell filtration during either aspiration or reinjection of the AF. Cell filtration after amniocentesis and consecutive reverse flushing of the membrane with the appropriate amount of culture medium proved to be the best with regard to easy handling and reducing the risk of bacterial contamination.
Second‐trimester unconjugated oestriol levels in maternal serum from chromosomally abnormal pregnancies using an optimized assay
Authors: Crossley J. A. , Aitken D. A. , Connor J. M.
Published: March 2007

Second‐trimester unconjugated oestriol (UE3) levels were measured retrospectively in maternal serum from 78 chromosomally abnormal pregnancies and 390 matched controls using a radioimmunoassay kit (Amersham AMERLEX‐M) optimized for use in the second trimester. Reduced levels of UE3 were found in a group of 49 Down's syndrome pregnancies with a median UE3 level of 0·79 multiples of the median (MOM) of the controls. Four trisomy 18 pregnancies had UE3 levels less than 0·7 MOM. There was a highly significant level of correlation between alpha‐fetoprotein (AFP) and UE3 levels in the controls (r = 0·25, P <0·01), the Down's syndrome pregnancies (r = 0·44, p 0·01), and the other chromosome abnormalities (r = 0·61, p0·01). When used as an additional marker to AFP and human chorionic gonadotrophin in screening for Down's syndrome, UE3 does not appear to add to the sensitivity of such screening.
Evidence of a second gamete fusion after the first cleavage of the zygote in a 47,XX, + 18/70,XXX, + 18 mosaic. A remarkable diploid‐triploid discrepancy after CVS
Authors: Tuerlings J. H. A. M. , Breed A. S. P. M. , Vosters R. , Anders G. J. P. A.
Published: March 2007

A 70,XXX, +18 karyotype was found by chorionic villus sampling, while the fetal fibroblast culture of the affected fetus revealed a 47,XX,+ 18 karyotype. From several possible mechanisms, we assume that a second gamete fusion occurred after the first cell division of the zygote. According to this interpretation, the mosaicism arose in very early pregnancy (at the two‐cell stage). This discrepancy can therefore be explained by selection pressure, due to the differentiation processes in the embryonic tissues.
Cytogenetic analysis of human oocytes after subzonal insemination
Authors: Selva Jacqueline , Wolf Jean Philippe , Rince Patricia , Rodrigues Daniel , Frydman René , Jouannet Pierre
Published: March 2007

Subzonal insemination has been proposed to achieve fertilization in cases where standard in vitro fertilization has failed. We present the results of chromosome analysis of oocytes after subzonal insemination. Our data suggest that the main cause (76 per cent) of the absence of cleavage after subzonal insemination is the total absence of sperm nucleus evolution of the injected spermatozoa. Our results also suggest that spermatozoa chromatin development is normal after subzonal insemination. Aneuploidy does not seem to be increased in zygotes after subzonal insemination. However, polyploidy was often more important than predicted by the observation of pronuclei (PN). Pronucleus development might be asynchronous and can appear earlier or later than after standard IVF. The cytogenetic risk after subzonal insemination might therefore be triploidy (if a triploid egg is transferred, because only 2 PN were seen) rather than aneuploidy or structural abnormalities.
Applicability of DNA isolated from syncytiotrophoblast vesicles to gene amplification and molecular analysis
Authors: Colucci G. , Pesenti E. , Molteni E. , Lobbiani A. , De Andreis C. , Pariani S. , Rossella F. , Semprini A. E. , Simoni G.
Published: March 2007

Maternal contamination of fetal DNA represents a major problem when highly sensitive molecular techniques are used in the prenatal diagnosis of genetic diseases. For this reason, we have studied the possibility of using DNA isolated from syncytiotrophoblast vesicles as a target of gene amplification (PCR). Three PCR systems were selected which included a repetitive 149 bp fragment of the Y chromosome, the VNTR locus D1S80, and a portion of the β‐globin gene. The results of these experiments indicate that DNA isolated from syncytiotrophoblast vesicles is free of maternal contamination and is suitable for gene amplification and DNA analysis.
False‐positive amniotic fluid acetylcholinesterase analysis in the third trimester
Authors: Suchy Sharon F. , Yeager Maria T.
Published: March 2007

Thirty‐two third‐trimester amniotic fluid samples were studied according to the indication for amniocentesis, result of acetylcholinesterase (AChE) analysis, and outcome, in order to address the issue of the effectiveness of AChE testing late in gestation. The results indicate that third‐trimester AChE analysis is less effective than second trimester in distinguishing open neural tube defects (ONTDs) and ventral wall defects (VWDs) from other abnormalities. False‐positive results occurred in cases of isolated hydrocephaly (four of seven cases), polyhydramnios, and intrauterine growth retardation (IUGR). Caution is recommended in interpreting third‐trimester AChE tests, particularly when neither an ONTD nor a VWD is observed by ultrasound.
First‐trimester diagnosis of duodenal stenosis associated with oesophageal atresia
Authors: Tsukerman G. L. , Krapiva G. A. , Kirillova I. A.
Published: March 2007

Duodenal stenosis associated with oesophageal atresia was diagnosed by ultrasound at 12 weeks' gestation. The diagnosis was made by recognition of a double bubble sign which was more pronounced when a vaginal transducer was used. Post‐abortion autopsy confirmed the diagnosis. Oesophageal and duodenal obstruction in this case had no effect on the amount of amniotic fluid or the alpha‐fetoprotein concentration since swallowing and subsequent utilization of amniotic fluid do not occur before 12 weeks of gestation.
Molecular cytogenetic characterization of marker chromosomes found at prenatal diagnosis
Authors: Verschraegen‐Spae M. R. , Van Roy N. , De Perdigo A. , De Paepe A. , Speleman F.
Published: March 2007

The nature and origin of two de novo small marker chromosomes found at prenatal diagnosis were determined by fluorescence in situ hybridization using chromosome centromere‐specific probes and chromosome‐specific plasmid libraries. One marker was found in a mosaic state and was shown to be an i(18p). The second marker was characterized as an inv dup(22). We conclude that molecular cytogenetic analysis contributes to the identification of marker chromosomes and therefore facilitates genetic counselling and decision‐making for the parents.
Prenatal diagnosis of isolated bilateral microphthalmia with confirmation by evaluation of products of conception obtained by dilation and evacuation
Authors: Shulman Lee P. , Gordon Patricia L. , Emerson Donald S. , Wilroy R. Sidney , Elias Sherman
Published: March 2007

We describe the prenatal diagnosis of isolated bilateral fetal microphthalmia in a woman at increased risk of having a fetus with microphthalmia. Ultrasound examinations at 161 and 19‐5 weeks' gestation demonstrated bilateral fetal microphthalmia with no other associated structural defects. The patient elected to terminate her pregnancy at 19.5 weeks. Pathological evaluation of the products of conception obtained by dilation and evacuation confirmed the prenatal diagnosis of isolated bilateral fetal microphthalmia.
Early prenatal sonographic diagnosis of neuropathic arthrogryposis multiplex congenita with osseous heterotopia
Authors: Gullino Elena , Abrate Mario , Zerbino Ezio , Bricchi Giuseppe , Rattazzi Pier Dino
Published: March 2007

A prenatal diagnosis of arthrogryposis multiplex congenita (AMC) has been carried out on a 19‐week‐old fetus by means of echography. The ultrasonographic characteristics were unnatural position of the four limbs associated with articular anomalies together with absence of active fetal movements. A therapeutic interruption of pregnancy was performed and the diagnosis was confirmed. At autopsy, architectural disorder of the motor neurons of the anterior medullary horn revealed a neuropathic pathogenesis of the arthrogryposis. Moreover, at the lumbar level the spinal cord was progressively replaced by heterotopic bony tissue which caused a more severe deformity of the lower limbs compared with the upper. The aspects of anatomo‐pathological, genetic, and differential diagnosis are discussed showing the precocity of the prenatal diagnosis and the peculiarity of the aetiology of our case.
β‐glucuronidase deficiency: Identification of an affected fetus with simultaneous sampling of chorionic villus and amniotic fluid
Authors: Chabás A. , Guardiola A.
Published: March 2007

Four pregnancies at risk for mucopolysaccharidosis VII were monitored by chorionic villus sampling obtained in the first or second trimester of gestation. One fetus showed reduced β‐glucuronidase activity following simultaneous sampling of chorionic villus and amniotic fluid at 17 weeks of gestation. The pregnancy was terminated. Subsequent assay of β‐glucuronidase activity in the fetal tissues was consistent with a diagnosis of mucopolysaccharidosis VII, thus confirming that chorionic villus samples provide useful information for diagnosis of this condition.
Quantification of human amniotic fluid constituents by high resolution proton nuclear magnetic resonance (NMR) spectroscopy
Authors: Sims Cynthia J. , Fujito Don T. , Burholt Dennis R. , Dadok Josef , Giles Harlan R. , Wilkinson D. Allan
Published: March 2007

We have investigated the ability of high‐resolution proton NMR spectroscopy to provide a biochemical constituent screening of human amniotic fluid (AF). Proton NMR spectra were obtained at 300 MHz on AF from patients undergoing amniocentesis in the mid‐trimester. Only AF from normal pregnancies (normal fetal karyotype, normal a‐fetoprotein levels, normal birth outcome) was used in this study. The AF supernatant was lyophilized and resuspended in deuterated water containing 0.1 mm phosphate buffer and 6.02 mm disodium maleate. Identification of low molecular weight compounds was confirmed by two‐dimensional NMR spectra (primarily correlated spectroscopy, or COSY) and standard addition techniques. A broad profile of compounds were ‘NMR visible’ in a single proton spectrum, including creatinine, glucose, organic acids (acetate, citrate, and lactate) and several amino acids (alanine, histidine, leucine, phenylalanine, tyrosine and valine). The proton spectrum was unaffected by prior freezing/thawing of AF samples. We were able to quantify compounds by comparison with an added concentration standard (maleate) at concentrations as low as 30 μm. Good agreement with literature values based on other analytical techniques was obtained.
Disappearing lung echogenicity in fetal bronchopulmonary malformations: A reassuring sign?
Authors: Meagher Simon E. , Fisk Nicholas M. , Harvey Jonathan G. , Watson Geoffrey F. , Boogert Antheunis
Published: March 2007

Congenital bronchopulmonary malformations detectable on prenatal ultrasound include cystic adenomatoid malformation (CAM), lobar sequestration, and upper airway atresia. We describe three fetuses with prenatally detected intrathoracic lesions in which the associated pulmonary hyperechogenicity disappeared before delivery. In the first case of pulmonary sequestration, the infant was asymptomatic after birth. However, in a case of CAM and another with laryngeal atresia, respiratory distress developed after delivery, despite recent scans showing apparently normal lung fields. This experience suggests that ultrasonic resolution of hyperechogenic lung lesions in utero does not necessarily indicate resolution of the underlying pathology.
Sonographic diagnosis of fetal congenital cataracts
Authors: Zimmer Etan Z. , Bronshtein Moshe , Ophir Ela , Meizner Israel , Auslender Ron , Groisman Gabriel , Meyer Hava
Published: March 2007

Five fetuses with congenital cataracts diagnosed in utero by ultrasound are reported. The fetuses, who were between 14 and 27 weeks' gestation, also had other severe malformations. The sonographic features of the cataracts are presented.
Prenatal transvaginal diagnosis of the ectrodactyly, ectodermal dysplasia, cleft palate (EEC) syndrome
Authors: Bronshtein M. , Gershoni‐Baruch R.
Published: March 2007

Transvaginal ultrasonography performed at 14 weeks' gestation demonstrated a bilateral cleft lip and lobster‐claw deformities of the hands and feet, in keeping with the diagnosis of EEC syndrome (ectrodactyly or lobster‐claw deformity, ectodermal dysplasia, and cleft lip and palate). The fetus was aborted and the diagnosis of EEC syndrome was confirmed.
A comparison of total and free β‐HCG assays in Down syndrome screening
Authors: Stone S. , Henley R. , Reynolds T. , John R.
Published: March 2007

Free β‐HCG is a new analyte that has been suggested to be superior to total HCG when used in combination with alpha‐fetoprotein (AFP) for Down syndrome risk screening in early pregnancy. We have evaluated this claim on 21 samples collected from Down syndrome pregnancies and 180 samples from unaffected pregnancies. The detection rates for the combination of AFP with free β‐HCG or the combination of AFP with total HCG were identical (71 per cent) but the initial screen positive rate (equivalent to the false‐positive rate) was 7·5 per cent for AFP+free β‐HCG screening compared with 3·5 per cent for AFP+ total HCG screening. We conclude that the case for free β‐HCG is unproven and suggest that further data be collected before free β‐HCG becomes acceptable.
Myasthenia gravis with polyhydramnios in the fetus of an asymptomatic mother
Authors: Verspyck E. , Mandelbrot L. , Dommergues M. , Huon C. , Woimant F. , Baumann C. , Garabedian B. Vernet‐Der
Published: March 2007

Transient myasthenia gravis was observed in an infant whose mother had no signs of neuro‐muscular disease. The case presented with severe polyhydramnios at 31 weeks. Sonographic and invasive work‐up showed only an absence of fetal swallowing. At birth, the infant had severe muscle weakness and respiratory distress. He had high titres of anti‐acetylcholine receptor (anti‐AChR) antibodies of maternal origin. Anti‐AChR antibodies were also found in stored samples of fetal serum and amniotic fluid. To our knowledge, this is the first case of neonatal myasthenia gravis for which neither past nor present evidence of disease could be obtained in the mother. Anti‐AChR antibody testing should be considered in cases of unexplained polyhydramnios.
Fetal renal artery flow velocity waveforms in the presence of congenital renal tract anomalies
Authors: Wladimiroff J. W. , Heydanus R. , Stewart P. A. , Cohen‐Overbeek T. E. , Brezinka Ch.
Published: March 2007

Colour Doppler flow mapping of the renal arteries and subsequent pulsed Doppler measurement of impedance to flow in these vessels were attempted in 33 fetuses with postnatally confirmed renal pathology. The majority presented with unilateral or bilateral hydronephro‐sis (n = 21) and bilateral renal agenesis (n = 8). Renal artery blood flow could be visualized in all, except for the eight cases of bilateral renal agenesis. Bilateral flow velocity recordings were collected in six out of 12 cases of bilateral hydronephrosis and in five out of nine cases of unilateral hydronephrosis. The pulsatility index (PI), as a measure of downstream impedance, was in the normal range in 16 out of 18 kidneys (88 per cent) in bilateral hydronephrosis and in 12 out of 14 kidneys (85 per cent) in unilateral hydronephrosis. The PI was significantly higher in severe hydronephrosis compared with mild hydronephrosis. In four cases of unilateral multicystic kidney, the PI was always higher on the affected side. Colour Doppler flow mapping and pulsed Doppler evaluation may be helpful in our understanding of renal vascularization in renal pathology and in confirming the diagnosis of renal agenesis.
First‐trimester free beta (hCG) screening for Down syndrome
Authors: Macri James N. , Spencer Kevin , Aitken David , Garver Kenneth , Buchanan Philip D. , Muller Françoise , Boue Andre
Published: March 2007

Maternal serum free beta (hCG) levels are elevated (median 2·20 MOM) in the first trimester of pregnancy in 38 Down syndrome cases as compared with appropriate controls. This observation may form the basis for its use as a marker in screening for Down syndrome in the first trimester. Altered levels of the free beta analyte are observed in pregnancy conditions or complications other than Down syndrome.
Walker‐Warburg syndrome: Prenatal ultrasound findings
Authors: Vohra Nidhi , Ghidini Alessandro , Alvarez Manuel , Lockwood Charles
Published: March 2007

The prenatal sonographic findings in a case of Walker‐Warburg syndrome are described. The patient was not at risk for this condition. Ultrasound examination at 34 weeks' gestation revealed hydrocephaly, Dandy‐Walker anomaly, and striking ocular abnormalities. From a review of the literature it appears that while intracranial abnormalities can lead to the diagnosis in cases at risk for this syndrome, ocular abnormalities are rather characteristic for this syndrome and they should be searched for in every case of hydrocephaly or encephalocele.
First‐trimester prenatal diagnosis of osteogenesis imperfecta type II by DNA analysis and sonography
Authors: Dimaio Miriam S. , Barth Richard , Koprivnikar Kathryn E. , Sussman Betsy L. , Copel Joshua A. , Mahoney Maurice J. , Byers Peter H. , Cohn Daniel H.
Published: March 2007

Osteogenesis imperfecta type II was diagnosed prenatally by analysis of DNA obtained from chorionic villus sampling (CVS) performed at 12 weeks of gestation in a woman who previously had had an affected child. The father had been shown to be mosaic for a mutation in the gene (COL1A2) which encodes the α2(I) chain of type I collagen. An affected fetus was predicted by detection of the mutation in amplified chorionic villus genomic DNA. Ultrasound examination at 13 weeks 4 days demonstrated femoral deformity and virtual absence of calvarial mineralization. In pregnancies at risk for osteogenesis imperfecta type II, sonographic evidence of skeletal abnormalities may be evident by 13 weeks' gestation.
Transvaginal sonographic detection of skeletal anomalies in the first and early second trimesters
Authors: Bronshtein M. , Keret D. , Deutsch M. , Liberson A. , Chava I. Bar
Published: March 2007

We report the detection of 42 cases of musculoskeletal anomalies routinely screened by transvaginal sonography at 12‐16 weeks of gestation out of 7325 examined pregnant women (incidence of 0·57 per cent).
Emotional reactions in women in late pregnancy (24 weeks or longer) following the ultrasound diagnosis of a severe or lethal fetal malformation
Authors: Hunfeld J. A. M. , Wladimiroff J. W. , Passchier J. , Uden M. Uniken Venema‐Van , Frets P. G. , Verhage F.
Published: March 2007

We studied the emotional reactions of 41 women in late pregnancy shortly after they had been informed of the diagnosis of ‘severe or lethal fetal malformations’ and 3 months after delivery. In addition, situational variables were explored as determinants of grieving. While grief did not diminish during the study period, psychological instability was less pronounced at 3 months after delivery. More grief reactions were evoked by self‐reported easily versus self‐reported not easily initiated pregnancy, gestational age between 24 and 34 weeks versus beyond 34 weeks, multiparity versus primiparity, and viewing versus not viewing the baby.
Attitudes of women of childbearing age towards prenatal diagnosis in Southeastern France
Authors: Julian‐Reynier Claire , Macquart‐Moulin Genevieve , Moatti Jean‐Paul , Loundou Anderson , Aurran Yvette , Chabal Françoise , Aymé Ségolene
Published: March 2007

The objective of this study was to explore women's attitudes towards prenatal diagnosis of trisomy 21 and to examine some of the factors possibly responsible for these attitudes before implementing in real practice serological screening of pregnant women at risk for trisomy 21. We carried out a telephone survey on a representative sample of women who had recently had a normal livebirth delivery in the Marseille district in 1990. The participation rate was 80 per cent and the average age of the mothers was 28‐9 years. Among the 514 women interviewed, 78 per cent stated that they would ask for an amniocentesis for a 1 per cent risk of trisomy 21 at their next pregnancy. When adjusting for confounding factors, the decision to have or not to have an amniocentesis was found to depend not only on the women's attitude towards induced abortion, but also on their understanding of the risk involved and on the social context (knowing a handicapped child, discussion with the father). It also depended on the women's age and on what they knew about amniocentesis from the medical point of view. The risk of miscarriage can influence a woman's choice but this objection was not found to affect the women's decisions significantly in our survey. The data showed the existence of a high potential demand for fetal karyotyping.
Prenatal diagnosis of gastrointestinal obstruction: A correlation between prenatal ultrasonic findings and postnatal operative findings
Authors: Dell'Agnola C. A. , Tomaselli V. , Teruzzi E. , Tadini B. , Coran A. G.
Published: March 2007

The impact of prenatal sonographic diagnosis of oesophageal and gastrointestinal obstructions has been analysed over a 10‐year period. Three groups of patients were evaluated. The first group consisted of 46 newborns with abnormal prenatal sonogratns, 41 of which were confirmed to have intestinal obstruction postnatally. The second group consisted of 17 neonates with normal prenatal sonograms who had intestinal obstruction postnatally. The third group included 56 newborns who did not undergo a prenatal sonogram but who had intestinal obstruction confirmed at surgery. Polyhydramnios without the appearance of a stomach on ultrasound was diagnostic of pure oesophageal atresia. Polyhydramnios with intestinal dilation was diagnostic of intestinal obstruction. Although surgery was performed earlier in the infants diagnosed prenatally with ultrasound, mortality was no less than in the group that did not undergo a prenatal sonogram, probably because of the high incidence of associated anomalies.
First‐trimester biochemical screening for fetal chromosome abnormalities and neural tube defects
Authors: Aitken David A. , McCaw Gary , Crossley Jennifer A. , Berry Esther , Connor J. Michael , Spencer Kevin , Macri James N.
Published: March 2007

Alpha‐fetoprotein (AFP), unconjugated oestriol (UE3), intact human chorionic gonado‐trophin (intHCG), and the free β subunit of chorionic gonadotrophin (FβHCG) were investigated in a series of 21 chromosomally abnormal and 14 open neural tube defect pregnancies ascertained from a series of 14 000 prospectively collected maternal serum samples at 6–14 weeks' gestation. In 16 cases of Down's syndrome, significant reductions were found for AFP (0.65 multiples of the normal median) and UE3 (0.67 MOM). IntHCG levels were unaltered (0.97 MOM) but a significant increase was found for FβHCG (1.96 MOM). Significant correlations were found for AFP and UE3 in the controls and for int HCG and FβHCG in both the control and the Down's syndrome pregnancies. In a group of five trisomy 18 pregnancies, median MOMs were for AFP 0.71, for UE3 0.34, for intHCG 0.27, and for FβHCG 0.15. None of 13 pregnancies with open neural tube defects at 8‐13 weeks gestation had elevated maternal serum AFP levels, whereas matched second‐trimester samples from the same pregnancies at 16‐18 weeks gestation all had significantly elevated AFP levels. Thus, biochemical screening for chromosome abnormalities may be practicable in the first trimester using free β human chorionic gonadotrophin in combination with AFP and maternal age. However, a separate screening protocol using AFP at 15‐18 weeks gestation would still be required for effective detection of neural tube defects.
Women's opinions on the offer and use of maternal serum screening
Authors: Roelofsen E. E. C. , Kamerbeek L. I. , Tymstra Tj. , Beekhuis J. R. , Mantingh A.
Published: March 2007

We studied the opinions and experiences concerning maternal serum screening of two groups of women: (A) women who were not eligible for prenatal diagnosis; and (B) women for whom prenatal diagnosis was available because of advanced maternal age, and who either underwent chorionic villus sampling or amniocentesis. Many of the women were in favour of the availability of serum screening and would apply for this test in a future pregnancy. This applied also to many respondents who had previously undergone prenatal diagnosis. Most of these women, however, did not intend to decline diagnostic amniocentesis if the screening results did not indicate an increased risk. The majority of the group of respondents of 36 years and over did not consider it acceptable if age indication was dropped altogether.

A system based on serum screening will have other implications than a policy based on age indication, since specific individual risk assessment is perceived as being of more significance than a risk statistically derived from age alone. Serum screening is often seen as a means of reassurance and many women are not aware of the possible drawbacks. As technology becomes increasingly complicated, counselling has to be adjusted correspondingly. Further research is needed to establish whether and how distress can be minimized and well‐considered individual choice can be achieved.
On the parental origin of the X's in a prenatally diagnosed 49,XXXXX syndrome
Authors: Martini G. , Carillo G. , Catizone F. , Notarangelo A. , Mingarelli R. , Dallapiccola B.
Published: March 2007

A 49,XXXXX fetus was detected in amniotic fluid cell cultures from a 39‐year‐old mother. On ultrasonography, growth retardation and bilateral radioulnar synostosis were found. Additional clinical manifestations were mild facial anomalies and hypoplastic ovaries depleted of oocytes. Molecular analysis showed that this aneuploidy arose by successive maternal non‐disjunction.
Prenatal cystic fibrosis carrier screening: Factors in a woman's decision to decline testing
Authors: Mennie M. E. , Gilfillan A. , Compton M. E. , Liston W. A. , Brock D. J. H.
Published: March 2007

Among 2207 women eligible to be screened for cystic fibrosis (CF) carrier status during pregnancy, 325 (15 per cent) declined to be tested. Of these, 260 (80 per cent) answered a questionnaire soliciting their reasons for not participating. The main factor was opposition to termination of pregnancy, with 43 per cent being against termination for any reason and another 11 per cent against termination of a CF fetus. Other reasons given were partner's disapproval or non‐participation (10 per cent), perceived risk of a CF child being low (7 per cent), the error rate of the test (6 per cent), and the generation of unacceptable levels of anxiety (5 per cent). Eleven women (4 per cent) said that they did not wish to be tested during pregnancy, but only six of these would have accepted screening at another time.
Application of fluorescent in situ hybridization for ‘de novo’ anomalies in prenatal diagnosis
Authors: Van Opstal D. , Eussen H. J. , Van Hemel J. O. , Sachs E. S.
Published: March 2007

Fluorescent in situ Hybridization (FISH) was carried out for three cases of abnormal karyotypes in prenatal studies. Two concerned de novo structural anomalies and the third a marker chromosome. The origin of the extra material could be defined in all three cases, which gives a better insight into the relationship between genotype and phenotype and makes more adequate genetic counselling possible.
Prenatal diagnosis of gall bladder anomalies—report of 17 cases
Authors: Bronshtein M. , Weiner Z. , Abramovici H. , Filmar S. , Erlik Y. , Blumenfeld Z.
Published: March 2007

We describe here 17 cases of fetal gall bladder anomalies, detected as early as the 14th week of gestation, out of 10 016 fetal systemic examinations performed by us in the last 6 years (015 per cent). In seven cases, agenesis of the fetal gall bladder was detected. The diagnosis was confirmed by post‐abortal examination in five cases and in two post‐partum. In six other cases, a left‐sided gall bladder and in one case, a ‘floating’ gall bladder were detected at 15 weeks' gestation. In two cases, a septated or bilobed gall bladder was visualized. None of these 15 cases was dyskaryotic, but in five cases, two with agenesis and three left‐sided gall bladders were associated with other fetal malformations. In two other cases, the gall bladder appeared dysmorphic on sonographic examination and in both of them intrauterine growth retardation and other anomalies were detected. Trisomy 18 was diagnosed by amniocentesis in one of them. According to our experience, failure to visualize the fetal gall bladder by the 15th gestational week is diagnostic of its absence and should raise the differential diagnosis between gall bladder atresia, which has a good prognosis, and external biliary atresia, which has a poor prognosis. Further experience is needed to characterize the various gall bladder malformations and their prognosis.
Prenatal diagnosis of DHPR deficiency by direct detection of mutation
Authors: Smooker Peter M. , Cotton Richard G. H. , Lipson Anthony
Published: March 2007

Prenatal diagnosis was requested by a family carrying a 3 base‐pair insertion in the dihydropteridine reductase (DHPR) coding region. A chorionic villus sample was obtained and fetal DNA was isolated directly from this. Diagnosis was performed by a polymerase chain reaction (PCR)‐based technique, with a simple electrophoretic assay for the insertion. The fetus was found to be heterozygous for the insertion. This is the first time that prenatal diagnosis of DHPR deficiency has been performed by direct detection of the mutation.
Cytogenetic diagnoses after chorionic villus sampling are less reliable in very‐high‐ or very‐low‐risk pregnancies
Authors: Kennerknecht Ingo , Barbi Gotthold , Wolf Michael , Djalali Mahmoud , Grab Dieter , Terinde Rainer , Vogel Walther
Published: March 2007

An increasing number of cytogenetic prenatal diagnoses are performed on chorionic villus samplings. The accuracy of this method is influenced by chromosomal mosaicism, mostly confined to direct preparation methods. Especially those investigators who have experienced false‐negative and false‐positive findings propagate the combined use of direct and culture methods. Yet large collaborative studies have shown that in approximately two‐thirds of diagnostic cases only one procedure is applied. Moreover, the accuracy of a cytogenetic investigation depends not only on the ontogenetic origin of the tissues investigated, but also on interacting factors such as the ‘a priori risk’ and the ‘predictive value of a cytogenetic finding’. On this basis a differentiated prenatal diagnostic procedure is discussed, including either sole short‐term culture (STC), combined STC and long‐term culture (LTC), primary amniocentesis (AC), or primary percutaneous umbilical blood sampling (PUBS). The predictive value of the cytogenetic diagnosis from CVS varies significantly dependent on the a priori risk of a chromosome aberration and, in the case of an abnormal karyotype, on the specific chromosome involved. A non‐mosaic and ‘non‐lethal’ trisomy detected in STC is highly representative of the embryo/fetus, but there are exceptions of limited predictive value, e.g., trisomy 18. Guided by the strategy of an optional follow‐up by LTC, AC, or PUBS in 1317 successive CV samplings, we are not aware of a false‐negative diagnosis, but probably had one false‐positive diagnosis: 47,XXY after STC; 46,XY after LTC. When referring to the rate of fetuses with an unbalanced karyotype expected in the different indication groups, a relative increase of false‐positive findings in the very‐low‐risk group (maternal age ⩽35 years of age) and of false‐negative findings in the very‐high‐risk group (abnormal ultrasonographic findings) of pregnant women when only performing CVS becomes obvious. Because of this dilemma, AC or—especially in the latter group—PUBS might be primarily offered to these indication groups instead of CVS.
Transabdominal chorionic villus sampling in the second and third trimesters of pregnancy: Chromosome quality, reporting time, and feto‐maternal bleeding
Authors: Smidt‐Jensen Steen , Lundsteen Claes , Lind Anne‐Marie , Dinesen Kirsten , Philip John
Published: March 2007

Transabdominal chorionic villus sampling (TA‐CVS) was performed in 210 pregnancies from 13 to 38 weeks using a double‐needle technique. The sampling success was comparable to first‐trimester TA‐CVS and the diagnostic success rate was 98.2 per cent for the short‐term technique and 99.3 per cent for cultured villi. Two fetuses could not be karyotyped. We found the chromosome quality to be similar to that in the first trimester, comparing the number of G‐bands and other chromosome attributes. There were no unintended losses in a group (n = 142) with no sonographic abnormality, except for one death in utero at 38 weeks, 20 weeks after sampling. Chromosomal aberrations were seen in 19 per cent of cases with abnormal sonograms (n = 58). One case of a discordant karyotype was found (false‐negative prediction of Down's syndrome by the short‐term preparation). There were no cases of fetal demise due to feto‐maternal bleeding. It is suggested that double‐needle TA‐CVS in advanced pregnancies combines the advantages of rapid karyotyping of chromosomes of good quality and low risk for the fetus, and seems to be easier to practise and is probably safer than cordocentesis.
False non‐paternity in a family for prenatal diagnosis of β‐thalassaemia
Authors: Chan Vivian , Chan T. P. T. , Lau K. , Todd D. , Chan T. K.
Published: March 2007

Initial screening for the common β‐thalassaemia mutations with allele‐specific oligonucleo‐tide probes in an at‐risk family suggested non‐paternity. Subsequent DNA fingerprinting of the members proved otherwise. The mother had a codon 41/42 frameshift mutation and the father's defect, determined by direct sequencing of PCR‐amplified β gene, was a codon 43 nonsense mutation. In the affected children, the close proximity of these two defects resulted in the absence of a hybridization signal to the normal probe in that region and a wrong assumption of homozygosity for the codon 41/42 mutation. The non‐reactivity of the father's amplified DNA to the codon 41/42 thalassaemic probe accounted for the initial wrong conclusion of non‐paternity. Since prior screening for β‐thalassaemia mutations is done in all prenatal diagnosis programmes and concomitant inheritance of these two defects is relatively common in the Chinese, this ‘artefact’ of false non‐paternity is worth noting.
Transcervical CVS sample size: Correlation with placental location, cytogenetic findings, and pregnancy outcome
Authors: McIntosh Nathalie , Rubin Cathi , Wang Boris , Williams John
Published: March 2007

Data from 2907 transcervical CVS cases performed on singleton pregnancies were reviewed retrospectively and villus sample size was correlated with cytogenetic results, placental location, maternal age at the expected date of confinement (EDC), gestational age at the time of sampling, birth weight, gestational age at the time of delivery, and pregnancy outcome. No correlation was noted between villus sample size and maternal age, gestational age at sampling, gestational age at delivery, birth weight, or pregnancy outcome. An inverse correlation between villus sample size and percentage of abnormal cytogenetic findings was statistically significant (X2 = 8·53, p <0·01). The percentage of small samples was greater when the placenta was anterior, lateral, or fundal than when the placenta was posterior.
Serum hCG assay: A method for detection of contamination of fetal blood samples
Authors: Dommergues M. , Bunduki V. , Muller F. , Mandelbrot L. , Morichon‐Delvallez N. , Dumez Y.
Published: March 2007

Serum human chorionic gonadotrophin (hCG) can be assayed in specimens obtained by percutaneous fetal blood sampling to check for the absence of maternal blood or amniotic fluid contamination. In order to assess the accuracy of this approach, we measured serum hCG in 44 pure fetal blood samples obtained by intracardiac puncture. The mean fetal serum hCG concentration was 52 IU/l, and the ratio of maternal to fetal serum hCG concentration never exceeded 1 · 1 per cent, which represents the smallest contamination rate detectable by this method.
An unusual tricentric X chromosome detected prenatally
Authors: Caine A. , Mason G. , Daly H. A. , Ricketts S. M.
Published: March 2007

We describe a female fetus with ade novoX chromosome rearrangement detected prenatally in both chorion villi and a pleural effusion. Chromosome painting showed the chromosome to be composed entirely of X chromosome material, while G‐banding indicated a duplication of X short arms, four copies of the proximal long arm, and deletion of the distal long arm of the X. C‐banding showed the presence of one active and two inactive centromeres and X‐inactivation studies demonstrated the tricentric chromosome to be late replicating in all cells examined. The origin of this complexde novorearrangement appears to have involved two separate breakage events, the first leading to the production of a dicentric X chromosome and the second generating the tricentric X.
Rapid karyotyping in prenatal diagnosis: A comparative study of the ‘pipette method’ and the ‘in situ’ technique for chromosome harvesting
Authors: Claussen Uwe , Ulmer Renate , Beinder Ernst , Voigt Hans‐Joachim
Published: March 2007

Rapid karyotyping in the second and third trimesters has important implications for the management of pregnancies at risk. From September 1985 to March 1992, 735 amniotic fluid samples sent to our laboratory for rapid karyotyping from 64 different diagnostic centres of the Federal Republic of Germany were included in a comparative study on harvesting for chromosome analysis using the ‘pipette method’ or the ‘in situ’ technique. The average time between preparation of the amniotic fluid and verbal notification of the analysed karyotype was 5·41 days. The ‘pipette method’ needed on average 4·65 days, and the ‘in situ’ technique 5·97 days. In comparison with other more invasive techniques available for rapid karyotyping such as cordocentesis and placental biopsy, amniocentesis and subsequent chromosome harvesting using the ‘pipette method’ and/or the ‘in situ’ technique proved very useful and efficient. The overall incidence of chromosome aberrations was 15·3 per cent. The high rate of structural chromosome aberrations and uncommon aneuploidies found in our investigation (12 per cent) indicates that for rapid karyotyping in the second and third trimesters, conventional cytogenetic techniques cannot be replaced by faster techniques based on fluorescent in situ hybridization on interphase cells in the near future.
Filtration and recirculation of early amniotic fluid. Evaluation of cell cultures from 100 diagnostic cases
Authors: Sundberg Karin , Smidt‐Jensen Steen , Lundsteen Claes , Agerbæk Kirsten , Philip John
Published: March 2007

Due to the low cell concentration, cultures from early amniotic fluid specimens usually require 2–3 weeks in culture prior to karyotyping. The purpose of this study was to evaluate the culture quality of amniotic fluid cells from early pregnancy, obtained by a new filter technique. The hypothetical advantage of the technique was that the increased cell yield might reduce the culture time before karyotyping. Culture quality was assessed by the number of colonies, the percentage of colonies containing mitoses in filter and control cultures, and the culture time. The setting was a consecutive clinical trial. One hundred samples were obtained from ongoing pregnancies at 11–14 weeks of gestation (mean 12·8 weeks). By circulating a mean of 26 ml of amniotic fluid through a cell filter system leading the cell‐free fluid back to the amniotic cavity, the cell yield was increased in the sample of 7 ml corresponding to the dead space of the filter system. The culture results were compared with control cultures from 5 ml samples drawn from the same pregnancies prior to recirculation. The cultures from the first flushing of the filter system yielded 2·6 times more colonies and in total 4·2 times more colonies were found in the three cultures grown from each filter sample when compared with the control cultures. Moreover, the filter cultures showed significantly more colonies with mitoses. The mean culture time was 8·0 days for the filter cultures, from which the karyotypes were analysed. The controls would have needed more time in culture to fulfil the diagnostic criteria for karyotyping. One case of 47,XY, + 21 was found; the rest had normal karyotypes. We conclude that the filter technique improves the culture quality of early amniotic fluid samples and allows early arrest of the cultures.