bluuebunny/crossref_metadata_2025 huggingface dataset:
Neurophysiologic studies of the penilo‐cavernosus reflex: Normative data
Authors: Podnar Simon
Published: March 2007

Aims

To determine normative values for the penilo‐cavernosus reflex on single and double pulse electrical, and mechanical stimulation.

Methods

All men without neurologic disorder, with normal neurologic examination, and with bilaterally normal quantitative electromyography of the external anal sphincter muscles referred for sacral neurophysiologic studies in the years 2003–2005 were included. The penilo‐cavernosus reflex was studied on single and double electrical, and mechanical stimulation. Responses were detected by a needle electrode inserted consecutively into the left and right bulbocavernosus muscle. In each subject, latency of the response, and using electrical stimulation, the sensory threshold, reflex threshold and stimulation strength, were determined. Normative values were calculated using parametric statistics and optimal data transformations.

Results

In all 26 men with minor non‐neurogenic sacral dysfunction reflex responses were recorded using each stimulation technique. Minimal latencies of reflex responses (in msec) were 29.88 ± 5.65 (upper limit: 39.4), 30.00 ± 4.11 (36.0), 28.16 ± 5.80 (35.5) on single electrical, double electrical and mechanical stimulation, respectively. Sensory thresholds (in mA) were 7.80 ± 2.73 (upper limit: 14.5) and 6.08 ± 2.30 (10.5), and reflex thresholds (in mA) 25.36 ± 11.04 (upper limit: 49.6) and 12.78 ± 6.06 (26.9) on single and double electrical stimulation, respectively.

Conclusions

The obtained normative values for latency on single electrical and mechanical stimulation were similar to those previously published. Additional data on latency on double electrical stimulation, and on the sensory and reflex thresholds on single and double electrical stimulation are expected to increase the diagnostic utility of the penilo‐cavernosus reflex. Neurourol. Urodynam. 26:864–869, 2007. © 2007 Wiley‐Liss, Inc.
Modification of silica nanoparticles and their application in UDMA dental polymeric composites
Authors: Du Minhui , Zheng Ying
Published: March 2007

Advancements in nanocomposites are highly dependent on the compatibility between the organic matrix and inorganic fillers, and the dispersion level of fillers throughout the matrix. Silane coupling agents are widely used to change the chemical structure of particles' surface in order to improve their compatibility and dispersion properties of particles. SiO2 nanoparticles were modified by ζ potential, turbidity, and relative viscosity. The results indicate that the stability and dispersion degree in organic solvents have been improved after the modification. In addition, the mechanical properties of composites with modified silica were also studied, which indicated that, after the predispersion of particles in organic media, the mechanical properties of materials could be improved, even at low filler content. POLYM. COMPOS., 28:198–207, 2007. © 2007 Society of Plastics Engineers
Apolipoproteins in human fetal blood and amniotic fluid in mid‐trimester pregnancy
Authors: Fainaru Menahem , Deckelaum Richard , Golbus Mitchell S.
Published: March 2007

To examine the potential for prenatal diagnosis of genetic lipoprotein metabolic defects (e.g. abetalipoproteinemia, Tangier disease) we determined the normal concentrations of apolipoproteins (apo) A‐I, A‐II, B, and E in mid‐trimester amniotic fluid and fetal plasma. The concentrations of apo A‐I and apo A‐II in amniotic fluid were 1−2 per cent of the respective levels in the mother's plasma, whereas apo B and apo E were undetectable in amniotic fluid. In contrast to amniotic fluid, all four apolipoproteins were detectable in fetal plasma, and the levels of apo A‐I, apo B and apo E were in the range observed in the mothers: 160·2 ± 103·1, 59·8 ± 35·7 and 5·7 ± 3·5 mg/dl respectively (mean ± SD, n=13). The fetal plasma level of apo A‐II (28·3 ± 12·4 mg/dl) was two‐thirds that observed in the mother's plasma. The normal levels of these apolipoproteins in fetal plasma are well above the sensitivity of the methods, and their quantification requires only 10−20 μl of fetal plasma. Determination of apolipoproteins in fetal blood obtained by fetoscopy thus may provide a method for the prenatal diagnosis of congenital apolipoprotein deficiences.
Prenatal morphology in meckel's syndrome (with special reference to polycystic kidneys and double encephalocele)
Authors: Rehder Helga , Labbé Francois
Published: March 2007

Prenatal morphology of Meckel's syndrome was studied in five fetuses of different gestational age, that had been aborted because ultrasonography and elevated amniotic AFP‐levels indicated neural tube defect. Histologically, the enlarged polycystic kidneys were completely alike with respect to the type of involvement and differed only in the severity of changes. They could be identified as type III cystic kidneys according to the classification of Potter. Proliferation of hepatic bile ducts and slight cystic dilatation of pancreatic ducts is already evident in the youngest fetus. Additional cyst formation in the epididymis was found in one of the cases. Occipital encephalocele, located within an apical occipital bone defect was always associated with a second mostly occult encephalocele protruding through a separate defect of the basal occipital squame and of the first and second vertebral arch. It is assumed that double encephalocele represents a constant finding in Meckel's syndrome, indicating a specific pattern within the disturbance of neural tube closure.
Fetal marfan syndrome: Prenatal ultrasound diagnosis with pathological confirmation of skeletal and aortic lesions
Authors: Koenigsberg Mordecai , Factor Stephen , Cho Sangho , Herskowitz Ahvie , Nitowsky Harold , Morecki Rachel
Published: March 2007

Sonography was performed during the second trimester in two pregnancies at risk for the Marfan syndrome. In one, the limbs were significantly longer than expected (p < 0·0025) and a diagnosis of the Marfan syndrome was established. Pathological examination of the fetus after pregnancy interruption showed typical foci of cystic medial necrosis in the ascending aorta.
Short communications normal fetal growth despite persistent amniotic fluid leakage after genetic amniocentesis
Authors: Simpson Joe Leigh , Socol Michael L. , Aladjem Silvio , Elias Sherman
Published: March 2007

Two women not only lost relatively large amounts of amniotic fluid immediately following genetic amniocentesis, but continued to lose fluid for the remainder of their pregnancies. Periodic ultrasonographic assessment confirmed normal fetal growth and presence of some amniotic fluid. Both women were delivered at term of normal offspring who showed no evidence of fetal deformations. Although amnionitis is a risk, cautious surveillance may permit continuation of pregnancies complicated by copious or persistent amniotic fluid leakage following genetic amniocentesis.
Fetal sexing in possible carriers for duchenne muscular dystrophy
Authors: Bundey Sarah , Ebdy Jacqueline
Published: March 2007

Over a five‐year period in the West Midlands there were 34 pregnancies to women who were possible carriers for Duchenne muscular dystrophy and who were known to the Department of Clinical Genetics. Fetal sexing was performed in only ten of 26 pregnancies to women of high or moderate risk, and of the five male fetuses discovered, only two were aborted. Overall, the 34 pregnancies resulted in one miscarriage, 14 males (of whom two were aborted and two were affected) and 19 females. Information was also obtained on five further possible carriers who were ascertained solely because they had an amniocentesis. These five pregnancies led to the birth of one affected male and to the termination of one male fetus.
Prenatal detection of chromosomal mosaicism
Authors: Najafzadeh Touran M. , Cahill Timothy C. , Dumars Kenneth W.
Published: March 2007

A significant problem associated with cytogenetic prenatal diagnosis is distinguishing between true and pseudomosaicism. This becomes a diagnostic dilemma when fetal mosaicism corresponds with a known clinical entity. True mosaicism reportedly occurs with a frequency of 0·2 per cent and pseudomosaicism in 0·7 per cent to 2·7 per cent of cases. In the past 12 months, our laboratory has completed 522 fetal karyotypes. Nine cases were found to demonstrate mosaicism, 4 true mosaics (0·8 per cent) and 6 pseudomosaics (1·1 per cent). One case demonstrated both true and pseudomosaicism. In all cases of true mosaicism, the pregnancy was continued and karyotypes completed at birth. Our results demonstrate a danger of rigid adherence to the criteria for true and pseudomosaicism in the examination of amniotic fluids. It is suggested that the criteria established for true and pseudomosaicism may not be valid when an aberrant cell line is found in a single flask and when that aberrant cell line is compatible with a known clinical entity due to a chromosome anomaly.
Chorion biopsy in early pregnancy: A method of early prenatal diagnosis for inherited disorders
Authors: Kazy Z. , Rozovsky I. S. , Bakharev V. A.
Published: March 2007

Chorion biopsy was performed in 165 cases at 6–12 weeks of pregnancy, following an ultrasonic or embryo‐fetoscopic chorion frondosum localization. One hundred patients had their biopsies taken immediately before induced abortion. In 39 cases abortion was carried out 5–10 days after biopsy. In 26 pregnant patients biopsy was performed for genetic reasons. Fetal sex was determined in ‘native’ smears from biopsy specimens for cytological investigation, using X‐ and Y‐chromatin assays. Fetal sex diagnosis proved correct in all the cases. In 40 observations, the origin of the biopsy specimen was histologically checked. In 16 biopsy specimens, a number of enzymes were simultaneously assayed: β‐D‐ghcosidase, β‐D‐galacto‐sidase, β‐D‐hexosaminidase, β‐D‐glucuronidase, α‐L‐fucosidase, β‐D‐mannosidase, sphingo‐myelinase and arylsulphatase A. The levels of the above enzymes were compared to those observed in tissue cultures of amniotic cells obtained through amniocentesis at 16–18 weeks of pregnancy. The amniotic sac remained intact in all cases of chorion biopsy. If the pregnancy was maintained after the biopsy, no spontaneous abortions were recorded, and pregnancies resulted in the timely delivery of full‐term healthy infants. Therefore, the method described is a valuable means of diagnosing inherited disorders, with promising applications in prenatal medicine.
Prenatal diagnosis of trisomy 18 mosaicism
Authors: Grass Frank S. , Hisley John C. , Parke James C. , Bunn David
Published: March 2007

Trisorny 18 mosaicism was found in multiple primary cultures of amniotic fluid cells and subsequently confirmed by chromosome analysis of several tissues derived from the aborted fetus. The overall frequency of the minority cell line was 25 per cent in the amniotic fluid cultures and 28 per cent in the fetal tissues although much intertissue variations were noted.
Cultivated cells from mid‐trimester amniotic fluids. IV. Cell type identification via one and two‐dimensional electrophoresis of clonal whole cell homogenates
Authors: Johnston Patricia , Salk Darrell , Martin George M. , Hoehn Holger
Published: March 2007

Clones of cultivated amniotic fluid cells that have distinct morphologic and growth characteristics (F, AF and E‐type) were examined by one‐dimensional SDS polyacrylamide gel electrophoresis (SDS‐PAGE) and by two‐dimensional electrophoresis employing isoelectric focusing and SDS‐PAGE (IEF‐PAGE). No qualitative differences in band pattern were observed in SDS‐PAGE between the various amniotic fluid cell types, but consistent quantitative differences in the ratios of four bands of presumed filamentous proteins provided good distinction between amniotic fluid cells and postnatal skin fibroblast‐like cells. By adding separation on the basis of electrical charge to that of molecular size (IEF‐PAGE), we observed reproducible qualitative differences in the protein spot patterns between F and both AF and E‐type amniotic fluid cells. At least eight discrete proteins appear not to be synthesized by prenatal F‐type cells in comparison with their isogenic AF and E counterparts under identical culture conditions. The two‐dimensional electrophoretic patterns thus confirm that F and AF amniotic cells, in spite of their morphologic and growth kinetic similarities, are developmentally distinct cell types that retain their differentiated states in culture.
Influence of extracellular matrix on the proliferation of human amniotic fluid cells in vitro
Authors: Crickard Kent , Golbus Mitchell S.
Published: March 2007

Factors which influence the proliferation of human amniotic fluid cells in vitro have potential importance in reducing the time for prenatal diagnosis. Fibroblast growth factor (FGF) has been shown to be mitogenic for human amniotic fluid cells. The observation that cells which respond to FGF in vitro produce their own extracellular matrix (ECM), led to the use of an ECM as a substrate to assess proliferation. Pooled amniotic fluid cells maintained on an ECM prepared from bovine corneal endothelial cells demonstrated a significant increase in proliferation when compared with cells maintained on plastic substrate in the presence or absence of FGF. If FGF was added to cultures of amniotic fluid cells maintained on ECM, further increases in proliferation were noted compared with cells maintained on ECM in the absence of FGF. These results indicate that the substrate upon which amniotic fluid cells are maintained can have a profound influence on their proliferation.
The influence of obstetricians on the utilization of amniocentesis
Authors: Bernhardt Barbara A. , Bannerman Robin M.
Published: March 2007

A study of 173 Western New York State obstetricians was undertaken to study referral patterns for second‐trimester amniocentesis in 1974–1978. Referral patterns were analysed in relation to obstetrician age, religion, board certification, hospital affiliation and practice location. Forty‐seven per cent of the obstetricians had never referred a patient for amniocentesis. Those referring were overall younger than those not referring and were significantly more often board certified. Obstetrician religion was significantly related to referral with fewer Catholic obstetricians referring. Hospital affiliation (teaching versus non‐teaching) and obstetrician practice location (urban versus rural) were not important factors after controlling for religion and board certification. Obstetrician factors account for a small but important part of the variability in referral, and other factors, such as cost and access to laboratory and obstetric care need further investigation.
The prenatal diagnosis of the 48,xxyy syndrome
Authors: Bibbins Paul E. , Anderson Robert L. , Rary Jack M. , Jones Howard W.
Published: March 2007

A 48,XXYY fetus was diagnosed prenatally in a 34‐year old female who was seen at 18‐5 weeks of pregnancy for genetic counselling and amniocentesis for advanced maternal age. The pregnancy was terminated, and skin and peripheral blood samples were obtained at the time of delivery. These samples also exhibited the 48,XXYY chromosomal complement.
Prenatal diagnosis of mucopolysaccharidosis by two‐dimensional electrophoresis of amniotic fluid glycosaminoglycans
Authors: Mossman Jean , Patrick A. D.
Published: March 2007

Amniotic fluid from 72 pregnancies at risk for mucopolysaccharidosis have been analysed for glycosaminoglycans (GAG) by means of two‐dimensional electrophoresis. Definite results were obtained in all cases and required only 3 days to report. Of the 66 cases for which GAG analysis was accompanied by enzyme assays on cultured amniotic fluid cells, there was agreement of results in 65. In the one case of disagreement the result of GAG analysis proved to be correct. Fourteen pregnancies were predicted to be affected and the predictions were confirmed by studies on fetal tissues and/or cultured cells, or in one case the birth of an affected infant. Of the 58 pregnancies predicted to be unaffected, 48 have so far gone to term and produced healthy infants. There have been no false negative predictions. The analytical method is simple, rapid, and, in this study, has been found completely reliable for prenatal diagnosis.
45,X/46,XY chromosome mosaicism detected by midtrimester amniocentesis in amniocyte clones
Authors: Hecht Frederick , Hecht Barbara Kaiser
Published: March 2007

Amniocyte clones from a mid‐trimester pregnancy disclosed 45,X/46,XY sex chromosome mosaicism. Because of the uncertainty concerning the phenotype of the fetus, the parents elected to terminate the pregnancy. Mixed (asymmetrical) gonadal dysgenesis was not found. The fetus appeared to have a normal male uro‐genital system. No malformations of any type were detected, although as expected, the fetus did have 45,X/46,XY mosaicism.
Identification of acetylcholinesterase and cholinesterase in amniotic fluid by immune absorption technique
Authors: Nørgaard‐Pedersen Bent , Jensen Søren , Wandrup Jesper
Published: March 2007

A method for immunological detection of acetylcholinesterase (AChE) and cholinesterase (ChE) in amniotic fluid is described. By addition of a small amount of antihuman‐erythrocyte membrane antibody or anti‐pseudocholinesterase antibody to the sample before electrophoresis the two esterase bands on polyacrylamide gel (PAG) can be absorbed away. Similar staining results can also be obtained by specific inhibition of the two esterases with either BW 284C51 (AChE inhibitor) or Lysivane (ChE inhibitor). In cases with a faint AChE band and in cases with blood contamination the immune absorption technique makes interpretation easier.

Nearly identical staining results have been obtained by the immune absorption technique and the inhibition technique in the following samples with an AChE band: 34 samples from pregnancies with severe fetal malformation or intrauterine death (2 cases), 4 fetal serum samples, 4 samples of cerebrospinal fluid, 4 samples of fetal erythrolysate and 4 samples of adult erythrolysate. It can be concluded that an antibody prepared against erythrocyte AChE cross‐reacts with AChE in cerebrospinal fluid, and that this antibody can be used for demonstration of AChE in amniotic fluid.
Aseptically collected calf serum as an effective alternative to fetal calf serum in the culture of amniotic fluid cells
Authors: Heaton D. E. , Snape B. M. , Fennell S. J. , Marsden H. B.
Published: March 2007

The growth‐promoting activities of three different bovine sera have been compared in primary and secondary amniotic fluid cell cultures. In secondary amniotic fluid cell micro‐ cultures, aseptically collected calf serum (CS) was slightly, though not significantly more effective than fetal calf serum (FCS) in promoting DNA synthesis, while newborn calf serum (NCS) was significantly less effective than either CS or FCS. All three sera were optimally effective at concentrations of 10 per cent (v/v). Significant variation in quality occurred within four batches of each of CS and FCS, but not within four batches of NCS.

A selected batch of CS was significantly more effective in promoting the growth of primary amniotic fluid cell cultures than were a number of batches of FCS then in routine laboratory use.

It is suggested that CS may serve as an effective and economical alternative to FCS in the culture of amniotic fluid cells, thereby expanding the scope of serum batch testing. A possible explanation for the varying growth‐promoting activities of different sera is discussed.
Prevention of neural tube defects in curly‐tail mice by maternal administration of vitamin A
Authors: Seller Mary J. , Perkins Kathleen I.
Published: March 2007

Various doses of vitamin A were administered on day 9 of pregnancy to the pregnant curly‐tail mouse, a mutant, 60 per cent of which have neural tube defects (NTD). There was a reduction in the incidence of NTD in the fetuses with all doses used. The effect was maximal with 5 mg/kg; it was also marked, but to a lesser degree, with 10 and 20 mg/kg and minimal with 1 mg/kg. The implications of these findings in the mouse to the prevention of NTD in humans by preconception vitamin supplementation are discussed.
Prenatal diagnosis of hemoglobinopathies in twin pregnancies by double simultaneous fetoscopy
Authors: Antsaklis A. , Papantoniou N. , Loukopoulos D. , Kaskarelis D.
Published: March 2007

A new technique for sampling fetal blood in twin pregnancies using two fetoscopes simultaneously is described.

Two fetoscopes were inserted, one after the other, into both amniotic cavities and fetal blood samples were obtained from either the chorionic plate vessels or the umbilical cord insertion area.

The observation of the bright tip of the second fetoscope behind the septum using the first fetoscope assured the successful entry of the two fetoscopes into the two different amniotic sacs.

This technique was performed on 15 out of 17 patients. In all patients the fetuses were at risk of β‐thalassemia major. Sampling was successful in all cases. Double simultaneous fetoscopy seems to be a safe and accurate technique without technical problems or complications.

The simultaneous use of two fetoscopes opens new possibilities in intrauterine fetal surgery and research.
Citrulline in amniotic fluid and the prenatal diagnosis of citrullinemia
Authors: Kamoun P. , Parvy Ph. , Dinh D. Pham , Boué J. , Cathelineau L.
Published: March 2007

We report relatively high citrulline concentration in amniotic fluid of a citrullinemic fetus suggesting that prenatal detection of this condition could be done on this basis in conjunction with a direct or an indirect determination of argininosuccinate synthetase activity in amniotic fluid cells.
Dwarfism associated with prenatal ventriculomegaly
Authors: Shih L. Y. , Filkins K. , Suslak L. , Lieber C. , Roth J. A. , Desposito F.
Published: March 2007

Two infants with ventriculomegaly diagnosed by ultrasound during the third trimester of pregnancy were noted to have lethal short‐limbed dwarfing syndromes at birth. In one instance, a clinical suspicion of hydramnios and in the other follow‐up scan for placental localization revealed ventriculomegaly as an unexpected finding. These observations suggest that when ventriculomegaly is detected during prenatal ultrasound evaluation, limb measurements should be included to exclude a dwarfing syndrome as part of the differential diagnosis.
Increased risk of abortion after genetic amniocentesis in twin pregnancies
Authors: Palle Connie , Andersen J. W. , Tabor Ann , Lauritsen J. G. , Bang J. , Philip J.
Published: March 2007

Forty‐seven twin pregnancies among 3676 patients who had a genetic amniocentesis between 1973 and 1979, are reported. The detection rate of twins at the time of amniocentesis was 62 per cent.

Five (17 per cent) of the 29 women with detected twin pregnancy aborted spontaneously, these are compared with 1 (6 per cent) of 18 women with undetected twin pregnancies and with 3 (3 per cent) of 93 singleton pregnancies, selected as controls as they had amniocentesis performed immediately before and after each of the twin mothers.

Two of 9 (22 per cent) twin pregnancies, who had at least two punctures in at least one sac aborted, while 3 of 20 twin pregnancies with one puncture in each sac aborted (15 per cent). One of 18 (6 per cent) twin pregnancies, where only one sac was punctured, because the twin pregnancies were undetected, aborted.

Amniocentesis of both sacs in twin pregnancies seems associated with an increased risk of spontaneous abortion. The indications for amniocentesis in twin pregnancies should be critically evaluated.
The safety of fetoscopy: (II). Effect on maternal plasma levels of 13,14‐dihydro‐15‐oxo‐prostaglandinf2α
Authors: Nicolaides K. H. , Koullapis E. N. , Rodeck C. H.
Published: March 2007

The concentration of 13,14‐dihydro‐15‐oxo‐prostaglandin Fza (PGFM) was measured by radioimmunoassay in peripheral plasma in 62 pregnant women undergoing diagnostic fetoscopy.

The mean concentration of PGFM before fetoscopy was 410.1 ± 115.8 pmol/1 (mean±S.D.) and the corresponding values at 10 and 20 min following the procedure were 440.9 ± 125.6 and 394.4 ± 103.3 pmol/1 respectively; these differences were not statistically significant. Neither was there a significant change in the pre‐fetoscopy concentration of PGFM in relation to gestational age between the 14th and 23rd week of pregnancy.
Prenatal exclusion of homocystinuria (cystathionine β‐synthase deficiency) by assay of phytohaemagglutinin‐stimulated fetal lymphocytes
Authors: Fensom A. H. , Benson P. F. , Crees M. J. , Ellis Marie , Rodeck C. H. , Vaughan R. W.
Published: March 2007

Homocystinuria due to cystathionine β‐synthase deficiency was excluded in a fetus at 23 weeks' gestation by demonstrating activity of the enzyme in fetal lymphocytes after stimulation by phytohaemagglutinin. Fetal blood sampling was carried out because two determinations of enzyme activity on cultured amniotic cells gave low, not fully diagnostic values.
Immediate and unexplained fetal death during mid‐trimester amniocentesis
Authors: Shapiro Lawrence R. , Singer Niecee , Mannor Shlomo M.
Published: March 2007

Immediate and unexplained fetal death during mid‐trimester amniocentesis for prenatal diagnosis was found to be an uncommon though real phenomenon. A survey of programmes in the United States detected 5 cases from 7524 at 4 centres. Postmortem examination was not helpful and a neurogenic mechanism is postulated. Awareness of this phenomenon and routine pre‐ and post‐amniocentesis ultrasound monitoring may clarify the actual prevalence and etiology.
Amniotic fluid protease activity and the prenatal detection of cystic fibrosis
Authors: Poenaru L. , Vinet M. C.
Published: March 2007

Changes in the protease activity in amniotic fluid has been proposed as a valid method for the prenatal detection of cystic fibrosis (CF).

We have studied by quantitative and qualitative procedures, sixty four amniotic fluids: two of them from CF‐affected fetuses.

Interpretation of the benzoyl arginine ethyl ester (BAEE)‐staining patterns after isoelectric focusing was often difficult, and repeated experiments gave variable results. In order to improve gel discrimination, we performed amniotic fluid electrofocusing in the presence of detergents: 0.1 per cent Triton X‐100, 0.1 per cent DOC, or 0.1 per cent SDS. In these conditions, the pattern revealed by BAEE was modified, but no differences were observed between CF and normal amniotic fluids.
Fetal chromosome analysis: Screening for chromosome disease?
Authors: Philip John , Tabor Ann , Bang Jens , Madsen Mette
Published: March 2007

The aim of the study was to investigate the rationale of the current indications for fetal chromosome analysis. 5372 women had 5423 amniocenteses performed, this group constituting a consecutive sample at the chromosome laboratory, Rigshospitalet, Copenhagen from March 1973 to September 1980 (Group A + B).

Pregnant women 35 years of age, women who previously had a chromosomally abnormal child, families with translocation carriers or other heritable chromosomal disease, families where the father was 50 years or more and women in families with a history of Down's syndrome (group A), were compared to women having amniocentesis, although considered not to have any increased risk of fetal chromosome abnormality (1390 pregnancies, group B). They were also compared with 750 consecutive pregnancies in women 25–34 years of age, in whom all heritable diseases were excluded (group Q.

The risk of unbalanced chromosome abnormality in group A (women with elevated risk) is significantly higher than in group B + C (women without elevated risk) (relative risk 2–4). Women with a known familial translocation and women 40 years or more have a relative risk of 5–7 of having an unbalanced chromosome abnormality compared with women without elevated risk.

Spontaneous abortion rate and prematurity rate did not differ from rates expected without amniocentesis.

It is concluded that current indications may be characterized as a mixture of evident high risk factors and factors with only a minor influence on risk.

Indications for amniocentesis should therefore be reconsidered. Because it must be considered impractical and ethically wrong to limit amniocentesis to the two mentioned real high risk groups, and illogical to continue the present policy, which is not based on clearcut evidence, the possibility of offering amniocentesis to all who want it, is discussed. Screening for chromosome disease in all pregnancies is not without problems, but may be reasonable in some localities.
Prenantal diagnosis of X‐linked hydrocephaly
Authors: Van Egmond‐Linden A. , Wladimiroff J. W. , Jahoda M. G. J. , Niermeijer M. F. , Sachs E. S. , Stefanko S.
Published: March 2007

A case of X‐linked hydrocephaly is presented. Early second trimester evaluation of the size of the lateral cerebral ventricles resulted in onemale fetus cfontinuing further normal developmentand one male fetus being abroted because of progressive hydrocephaly. The affected fetus was characterized by cerebral ventricular dilation without aqueductal stenosis. This case history shows the feasibility of early monitoring of pregnancies at risk of X‐linked hydrocephaly. In some cases, ventricular enlargement rather than aqueductal stenosis may be the primary lesion.
Prenatal exclusion of late infantile metachromatic leucodystrophy in a late‐presenting pregnancy by assay of fetal leucocytes
Authors: Rodeck C. H. , Fensom A. H. , Benson P. F. , Ellis Marie
Published: March 2007

Metachromatic leucodystrophy was excluded in a fetus at risk, by assay of fetal blood collected at fetoscopy. Isolated fetal leucocytes were shown to have activities of arylsulphatase A and cerebroside sulphatase in the heterozygous range. The prediction was confirmed in the newborn.
Prenatal diagnosis of lethal osteogenesis imperfecta (OI) by ultrasonography
Authors: Patel Z. M. , Shah H. L. , Madon P. F. , Ambani L. M.
Published: March 2007

Ultrasonography was performed during the second trimester (17 weeks) in a pregnancy at risk for osteogenesis imperfecta congenita (OI). The scan showed that the femur was short, bent and dense. Radiologic examination of the fetus after interruption of pregnancy showed typical X‐ray changes of OI.
Prenatal ultrasound diagnosis of congenital heart disease associated with intrauterine growth retardation. A report of 2 cases
Authors: Stewart P. A. , Wladimiroff J. W. , Essed C. E.
Published: March 2007

Two fetuses with extreme growth retardation (IUGR) of 31 and 34 weeks gestation were studied using a combination of two dimensional echocardiography (2DE), pulse wave Doppler (PWD) and differential measurement of the instantaneous vessel diameter techniques. The first fetus was diagnosed as having univentricular heart or possible double outlet right ventricle (DORV). Descending aorta blood flow was reduced as was indexing for weight. The second fetus was diagnosed as having univentricular heart with periodic bigeminal and trigeminal rhythm. Descending aorta blood flow was measured on two occasions and was reduced both times. Indexing for weight was within normal limits the first time and showed gross reduction on the second occasion prior to fetal demise. Fetal death occurred in both cases at 34 weeks gestation. Cardiovascular evaluation in fetuses with IUGR is useful as the detection of severe congenital cardiac abnormalities may substantially alter the management of these pregnancies, in particular caesarean section may be avoided when the prognosis for the fetus is considered hopeless.
A fetus with a chromosome 13 ring and placenta with chromosome 13 rod/ring mosaicism
Authors: Benn P. A. , Warburton D. , Byrne J. M. , Rudelli R. , Shonhaut A. , Yeboa K. , Mootabar H. , Hsu L. Y. F.
Published: March 2007

A fetus was identified by prenatal cytogenetic diagnosis as having a karyotype 46,XY,r(13) (p11q13). Termination of the pregnancy yielded a severely malformed fetus. Fetal abnormalities included anencephaly, imperforate anus and urethral meatus, severe talipes, syndactyly, cardiac defects and other anomalies.

Confirmatory studies on cultured placental villi cells indicated a second cell line, 46,XY, −13,+ 13qter→cen::13ql3→qter. This cell line was not detectable in cells derived from the fetus despite extensive studies. It seems likely that the two cell lines arose simultaneously with selection favouring the 46,XY,r(13) line. How the chromosome rearrangements may have arisen is discussed.

We are unaware of other cases where a cell line identifiable by a chromosome abnormality appeared to be confined to placental tissue. However, studies on placental tissue may be helpful in understanding the origin of other unbalanced de novo rearrangements.
Analysis of normal and abnormal amniotic fluid cells in vitro by cinemicrography
Authors: Medina‐Gomez P. , Bard J. B. L.
Published: March 2007

Time‐lapse cinemicrography has been used to study cell behaviour and movement in long‐and short‐term amniotic fluid cultures from various types of fetus. These included several with a neural tube defect (9 anencephalics, 5 spina bifidas, 2 encephaloceles), 1 with an abdominal wall lesion (omphalocele) and 9 controls with no open lesion. In short‐term (<3 days) amniotic fluid cultures from normal fetuses, non‐adherent squamous cells dominate, but there is a small population of cells which, in the longer term (∼4 weeks), will form colonies of epithelioid and fibroblastic cells. In addition, there is a further group, called ‘AF’ by Hoehn et al. (1974), which have the ability to form syncitial strands and are often multinucleated; these cells seem to be trophoblastic in origin. In contrast to the controls, short‐term anencephalic cultures contained many adherent cells; these were mainly latex‐particle‐phagocytosing macrophages and neural cells. In long‐term cultures, the neural cells dominate and differentiate into a range of recognizable forms whose type and behaviour seem to depend on cell density, time in culture and extent of cell‐cell contacts. In the spina bifida and encephalocele cultures, there were initially far fewer adherent cells than in the anencephalic ones, but, after ∼2 weeks in vitro, a range of neural cell types could be recognized in addition to those seen in the controls.

In the context of prenatal diagnosis, the presence of neural cells certainly indicates that the fetus has a NTD, but the difficulty of standardizing culture conditions implies that any differential diagnosis on the basis or morphology and movement will be difficult. If, as seems likely, the AF cells of Hoehn et al. (1974) are indeed trophoblastic, amniotic fluids from the second trimester may provide a useful source of these cells.
Prenatal tests for Sanfilippo disease type B in four pregnancies
Authors: Mossman Jean , Young Elisabeth P. , Patrick A. D. , Fensom A. H. , Ellis Marie , Benson P. P. , Der Kaloustian V. M.
Published: March 2007

We report the prenatal diagnosis of two fetuses with Sanfilippo disease type B. In both pregnancies there were excessive amounts of heparan sulphate in amniotic fluid and the activity of N‐acetyl‐α‐D‐glucosaminidase was undetectable in cultured amniotic fluid cells. The predictions were confirmed by enzyme assay of cultured skin fibroblasts from the aborted fetus or the affected infant. The disorder was excluded for two other pregnancies at risk and the predictions are considered to be correct because of the normal progress of the healthy children.
Prenatal diagnosis of chromosome mosaicism
Authors: Benn Peter , Hsu Lillian Y. F. , Perlis Theresa , Schonhaut Amy
Published: March 2007

The frequency of mosaicism and pseudomosaicism in the prenatal diagnosis of cytogenetic disorders is reported, based on 3000 pregnancies studied in our laboratory. Diagnosis of true mosaicism was only made when an abnomality was detected in two or more independent cultures established from an amniotic fluid sample. On this basis, 0.37 per cent of all cases were diagnosed as true mosaics. 1.07 per cent of all cases had pseudomosaicism involving more than one cell from the same culture with an identical abnormality. 4.13 per cent of cases had a single abnormal cell with an extra chromosome, loss of a sex chromosome (or part of a sex chromosome), or translocation. Details of the outcome and follow‐up of cases is given.

Particularly problematical were cases where multiple cells from one culture contained an abnormality which could have been clinically significant. A crude estimate of the extent to which true mosaicism might currently be misinterpreted as pseudomosaicism or entirely missed has been made, based on data from the U.S. survey (Hsu and Perlis, in press). It was concluded that even when two, and if necessary a third culture is extensively analysed with an average of 24 cells per culture counted, at least 4.5 per cent of cases of true mosaicism may be completely missed and at least 7 per cent could be misdiagnosed as pseudomosaicism.

There is an urgent need for improved laboratory techniques which allow growth of a greater number of cell colonies and therefore a more broadly based analysis. Detailed long term follow‐up of prenatally diagnosed mosaics is also essential for assessing the clinical significance of the laboratory findings.
Normal ultrasonic size and characteristics of the fetal adrenal glands
Authors: Jeanty P. , Chervenak F. , Grannum P. , Hobbins J. C.
Published: March 2007

Utilizing real‐time ultrasound we define the normal fetal adrenal glands from the 20th week of gestational age. The normal acoustic characteristics of the adrenals are described. Potential applications of the nomogram derived from this study are suggested.
Prenatal diagnosis of endocardial fibroelastosis
Authors: Bovicelli L. , Picchio F. M. , Pilu G. , Baccarani G. , Orsini L. F. , Rizzo N. , Alampi G. , Benenati P. M. , Hobbins J. C.
Published: March 2007

In a case of fetal heart failure caused by endocardial fibroelastosis, prenatal echocardiography clearly demonstrated; a thickened endocardium. We therefore suggest that an abnormal endocardium may be detected in utero by ultrasound, thus representing an important clue in the differential diagnosis of fetal nonimmune hydrops and in the evaluation of pregnancies at risk for endocardial fibroelastosis.
Mosaicism or pseudomosaicism: The problem of hypermodal cells in amniotic fluid cell culture
Authors: Zhang Yunjing , Garver Kenneth L. , Marchese Sandra G. , Diggans Gerard R. , Muracca‐Clemens Michele , Flecker David
Published: March 2007

A series of 2029 consecutive amniotic fluid specimens studied for prenatal genetic diagnosis were reviewed and reassessed so as to evaluate the frequency and clinical significance of hypermodal cells in amniotic fluid cell cultures. Hypermodal cells were defined as those with more than 46 chromosomes, and were characterized by an additional structurally normal or structurally abnormal chromosome. Of 2029 specimens, 47 (2.31 per cent) contained a total of 167 hypermodal cells. True fetal mosaicism was detected in three cases (0.14 per cent). All had hypermodal cells in more than one culture flask or colony which contained the same aberrant chromosome complement. In all but one case the babies were normal when only one cell was hypermodal, or when several cells were hypermodal but present in only one colony or one culture vessel. One case had an extra No. 20 chromosome in one cell. Although the child had multiple anomalies, they were not characteristic of trisomy 20, and subsequent chromosomal study on the baby postnatally revealed a 46,XX karyotype. The in situ coverslip technique is recommended as the preferred method for prenatal diagnosis, and it is useful as an aid in differentiating true mosaicism from pseudomosaicism.
The prenatal diagnosis of transient cysts of the fetal choroid plexus
Authors: Chudleigh Patricia , Pearce J. Malcolm , Campbell Stuart
Published: March 2007

Ultrasound scanning during the second trimester of pregnancy revealed cysts of the choroid plexus in the posterior horn of the lateral ventricle in five cases. All disappeared spontaneously between 20 and 23 weeks and normal infants were subsequently delivered.
Chemical analysis of succinylacetone and 4‐hydroxyphenyllactate in amniotic fluid using selective ion monitoring
Authors: Jakobs Cornelis , Sweetman Lawrence , Nyhan William L.
Published: March 2007

A method for the measurement of the concentration of succinylacetone and 4‐hydroxyphenyllactic acid in amniotic fluid was developed for the prenatal diagnosis of hereditary tyrosinemia. Succinylacetone was converted to 5‐methyl‐3‐isoxazolepropionic acid and isolated with 4‐hydroxyphenyllactic acid by liquid partition chromatography and the trimethylsilyl derivatives quantified by ammonia chemical ionization selected ion monitoring gas chromatography‐mass spectrometry with 2‐hydroxy‐n‐caproic acid as the internal standard. The concentration of 4‐hydroxyphenyllactic acid in normal amniotic fluid was 1.97±0.75 (S.D.) μmol/l while succinylacetone was undetectable.

A pregnancy at risk for tyrosinemia type II was monitored. The concentration of 4‐ hydroxyphenyllactic acid was within the normal range and a healthy child was born.
Prenatal diagnosis of mandibulofacial dysostosis
Authors: Nicolaides K. H. , Johansson D. , Donnai D. , Rodeck C. H.
Published: March 2007

Four fetuses at risk of the autosomal dominant Treacher—Collins syndrome were examined by fetoscopy in the second trimester of pregnancy. Findings were normal in two cases and healthy babies were delivered after uneventful pregnancies. Mandibular hypoplasia and abnormalities of the palpebra and auricles were seen in the other two fetuses; one had an associated cleft palate. These pregnancies were terminated and the diagnoses confirmed by post‐mortem examination.
Changes in maternal serum alpha‐fetoprotein levels associated with intrauterine genetic diagnostic procedures
Authors: Simpson Gary F. , Sun Nian‐Hu , Golbus Mitchell S.
Published: March 2007

The amount of fetal—maternal transfusion during invasive intrauterine diagnostic instrumentation was determined by measuring the increase in maternal serum alpha‐fetoprotein (Δ AFP) caused by the procedure. Fetal liver biopsy or fetoscopy for purposes other than blood sampling caused a mean Δ AFP of 11.4 ng/ml and 34.2 ng/ml, respectively. Fetoscopy with fetal blood sampling produced a mean Δ AFP of 211.8 ng/ml, while fetoscopy followed by placentesis caused a mean Δ AFP of 462.8 ng/ml (representing a 1.07 ml fetal—maternal transfusion). Although this magnitude of fetal—maternal transfusion is an acceptable risk for the fetus, it is a sufficient transfusion to cause blood cell antigen sensitization.
Amniotic band syndrome in second trimester associated with fetal malformations
Authors: Børlum Karl‐Gerhardt
Published: March 2007

The Possibility of severe fetal malformations, including neural tube defects, secondary to early amniotic rupture followed by formation of fibrous bands (amniotic band syndrome) is a well‐known entitity. The fact that these pregnancies are usually uneventful makes prenatal diagnosis difficult, but routine determination of serum alphafetoprotein, followed by ultrasound scanning, may detect some of the malformations.

We present a case, where detection of a neural tube defect led to induced second trimester abortion of a fetus severely affected by this syndrome. There appeared to be a causal relationship between maternal trauma and the amniotic rupture.
Maternal serum alpha fetoprotein in monozygotic and dizygotic twin pregnancies
Authors: Thom H. , Buckland C. M. , Campbell A. G. M. , Thompson B. , Farr V.
Published: March 2007

Maternal serum α‐fetoprotein (MSAFP) values in the second trimester have been related to pregnancy outcome for 100 normal twin pairs, 42 monozygous (MZ) and 58 dizygous (DZ), liveborn after 28 weeks gestation.

The median MSAFP value was 1.9 multiples of the median value (MOM) for uncomplicated singleton pregnancies. Both very low and very high MSAFP values were associated with twins of low birthweight.

MSAFP values were higher in MZ than DZ twin pregnancies particularly those with dizygotes of like‐sex. This effect was even more marked when only dichorionic like‐sex twin pairs were compared.
Sonographic diagnosis of thoracic gastroenteric cyst in utero
Authors: Newnham John P. , Crues John V. , Vinstein Arnold L. , Medearis Arnold L.
Published: March 2007

A case of prenatal sonographic detection of a posterior mediastinal cyst in an otherwise normal fetus is presented. Following surgical excision 5 days after birth, histological examination confirmed the cyst to be gastroenteric. The differential diagnosis and clinical value of prenatal detection are discussed.
Maternal age specific rates for chromosome aberrations and factors influencing them: Report of a collaborative european study on 52 965 amniocenteses
Authors: Ferguson‐Smith M. A. , Yates J. R. W.
Published: March 2007

Maternal age specific rates for all major chromosome aberrations have been determined in 52 965 pregnancies in mothers 35 years of age and over at the time of amniocentesis. Rates increase exponentially with advancing maternal age for trisomies 21, 18 and 13, and for the XXX and XXY syndromes, but in the autosomal trisomies this rise appears to be followed by a levelling off at the upper end of the age range. A significant inverse relationship with maternal age is found for 45,X cases. It is postulated that these various patterns are the result of the interaction of three principal factors: a maternal age effect acting particularly on first meiotic nondisjunction: a higher spontaneous abortion rate with advancing maternal age for aneuploid as compared to euploid conceptions; and an increased probability of spontaneous abortion before the time of amniocentesis for conceptions with more extensive chromosome imbalance. A stepwise logistic regression analysis of 13 299 pregnancies in which both parental ages are known shows that the father's age does not influence these maternal age specific rates, with the possible exception of the 47,XXY syndrome.
Risk for chromosome abnormality at amniocentesis following a child with a non‐inherited chromosome aberration a european collaborative study on prenatal diagnoses 1981
Authors: Stene Jon , Stene Eeva , Mikkelsen Margareta
Published: March 2007

Based on 2890 prenatal diagnoses from 12 European countries the risk for a chromosomally abnormal fetus at amniocentesis after the birth of a child with a chromosome abnormality has been estimated to be 1.3 per cent when the mother's age is 34 years or less at amniocentesis and 1.8 per cent if the mother is older. This risk does not depend on paternal age, and it is independent of the type of the chromosome abnormality of the index child. Some geographical heterogeneities were detected. Therefore, the overall risk has to be considered as a rough estimate. The chromosome constitution of the abnormal fetus differed from that of the index patient in 21 of 41 cases. Several explanations for the higher risk have been discussed. If the index child had trisomy 18, 13 or a sex chromosome abnormality, the fetus tended to be a female. If the index child was a trisomy 21, the fetal sex ratio was normal.