bluuebunny/crossref_metadata_2025 huggingface dataset:
Maternal serum alfa‐fetoprotein levels in the pregnancy complicated by hypertension
Authors: Clayton‐Hopkins Judith A. , Olsen Pauline N. , Blake Anne P.
Published: March 2007

Maternal serum alpha‐fetoprotein (MSAFP) was determined in patients 33 to 40 weeks pregnant, and the results were analysed with consideration of the presence and quality of hypertensive disease that complicated many of the pregnancies. Patients with incompletely controlled hypertension had significantly higher MSAFP levels than control patients with pregnancies uncomplicated by any risk factor. MSAFP elevation was greatest in pre‐eclampsia (301·6 ± 147·6 kU/L, n = 35) > chronic hypertension with superimposed pre‐eclampsia (240·4±74.7 kU/L, n = 30) > chronic hypertension (204·1± 105·3 kU/L, n=141). Each was significantly increased (P< 0·0001) over control pregnant patients' levels (104·3 ± 38·8, n= 187). At each gestational week from 33 weeks to term, MSAFP of combined hypertensive women was significantly greater than corresponding control levels (P< 0·003 to < 0·000l). The magnitude and time of onset of MSAFP increase may indicate severe fetal distress.
Fetal death secondary to needle laceration during 2nd trimester aminiocentesis: A case report
Authors: Stock Richard J.
Published: March 2007

A case of fetal death secondary to a needle laceration during a second trimester amniocentesis is presented. The need for careful pathologic evaluation of fetuses lost subsequent to these procedures is stressed.
Rh isoimmunization following genetic amniocentesis
Authors: Golbus Mitchell S. , Stephens John D. , Cann Howard M. , Mann John , Hensleigh Paul A.
Published: March 2007

A series of 8009 genetic amniocenteses were retrospectively examined to evaluate the relationship of the procedure to Rh isoimmunization. Of the 615 Rh negative women giving birth to Rh positive infants and estimated to be at risk, thirteen (2·1 per cent) were sensitized subsequent to the amniocentesis. Eleven of the sensitizations occurred early in the programs, and a combination of experience and ultrasound performed concurrently with the amniocentesis appear to have reduced the risk of isoimmunization to that of control data from the literature.
Prenatal diagnosis of hereditary tyrosinaemia: Measurement of succinylacetone in amniotic fluid
Authors: Gagné R. , Lescault A. , Grenier A. , Laberge C. , Mélançon S. B. , Dallaire L.
Published: March 2007

A method is proposed for prenatal diagnosis in pregnancies at risk of hereditary tryosinaemia. Affected fetuses were detected on the basis of the abnormal presence in the amniotic fluid of succinylacetone, a metabolite previously identified in sera and urines of patients suffering from hereditary tyrosinaemia. Our data show that the forty amniotic control samples had no detectable succinylacetone, while succinylacetone was found in three out of the thirteen cases at risk. Following the parents' decision, these three fetuses were aborted. The ten other mothers who brought their pregnancies to term had normal infants. Enzymatic analysis from two of the aborted fetuses' livers revealed an absence or a low activity of fumarylaceto‐acetate hydrolase (EC 3.7.1.2) compared with control fetal livers of the same age.
Women's experiences with second trimester prenatal diagnosis
Authors: Verjaal Marianne , Leschot Nico J. , Treffers Pieter E.
Published: March 2007

By means of questionnaires, 100 women were asked for their experiences concerning prenatal diagnosis. At four standardized stages of the pregnancy a questionnaire was filled in asking for: expectation, knowledge, attitude towards termination of the pregnancy in case of abnormal findings, reactions to the counselling and the obstetric treatment, interpretation of own risk, experiences since the normal test results were known and ideas to improve the treatment. With regard to the effect of pre‐amniocentesis counselling it is concluded that the counselling had little impact on decision making; the counselling caused an increase of factual knowledge: somewhat more than half of the women who did not give a correct answer before counselling, indicated the right answer some time afterwards. Presumed differences in reaction patterns for a number of characteristics were not affirmed by the study; the reactions during the procedure of prenatal diagnosis seem to be highly individual and difficult to predict. In addition to the reactions of the 100 women described in this study, the responses to the first questionnaire of another 16 patients, declining amniocentesis after counselling, are presented.
Trisomy 20 mosaicism in amniotic fluid cells
Authors: Bösze P. , László J. , Tóth A.
Published: March 2007

The significance of trisomy 20 mosaicism in cultured amniotic fluid cells is still confusing. We report a case of amniotic cell normal/trisomy 20 mosaicism diagnosed prenatally. The pregnancy was carried to term and a normal baby girl was delivered. The authors consider that in cases of amniotic fluid cell normal/trisomy 20 mosaicism the termination of pregnancy may not be advised, however, the parents should be fully informed.
Prenatal diagnosis of a heterozygote for mucopolysaccharidosis type VII (β‐glucuronidase deficiency)
Authors: Poenaru L. , Castelnau L. , Mossman J. , Boué J. , Dreyfus J. C.
Published: March 2007

We had the opportunity of investigating a case (BK) of a severe form of mucopolysacchari‐ dosis with nearly total deficiency of β‐glucuronidase in serum, leucocytes and fibroblasts.

We here report results obtained by prenatal diagnosis of a clinically normal child (BK's sister), and point out the difficulty in interpreting a heterozygous level of β‐glucuronidase activity in cultured amniotic cells.

Four successive passages of amniotic cells were tested for β‐glucuronidase and α‐mannosidase activity in at‐risk and control cells. In different passages, enzyme activity was between 8 and 49 per cent of controls but 2 to 18 times higher than fibroblasts from the affected brother (BK).

The highest activity was observed in the first passage and the lowest in the third.

The electrophoretic separation of GAGS from at‐risk amniotic fluid showed a normal pattern. We discuss the correlation between enzyme levels in different passages of cultured cells and that found in leucocytes and fibroblasts from the propositus and parents.

From a practical point of view, we conclude that the first passage gives the most reliable results for prenatal diagnosis.
Maternal alphafetoproteln screening by the polypropylene tube immunoradiometric assay on dried blood
Authors: Dallaire L. , Grenier A. , Ducharme G. , Melancon S. B. , Potier M. , Des Rochers M.
Published: March 2007

The polypropylene tube immunoradiometric assay for alphafetoprotein (AFP) determination was applied to maternal serum along with a radioimmunoassay technique during the second trimester of pregnancy. Blood from pregnant women was collected by finger prick on strips of chromatography paper (Schleicher and Schuell No. 903C) and air dried. A 4·75 mm disc spot was eluted in anti‐AFP coated tubes containing 1·0 ml of assay medium. After one hour the medium was vortexed and the tubes washed and counted on a Concept 4tm (Micro‐ medic Systems, Horsham, PA.19044). The sensitivity of the technique is about 9 μg/l (35 ng/l in the assay) by the Rodbard formula. The concordance between the dried blood and the serum RIA tests in normal pregnancies was over 90 per cent at the 95th and 97th percentiles. This assay on dried blood spotted on chromatography paper was tested on 1003 patients and proved to be an ideal alternative to whole serum screening techniques: it minimizes sample manipulations and can easily be integrated into an existing newborn screening programme.
A case of prenatal paternity discrimination
Authors: Roberts D. F. , Coleman D. V.
Published: March 2007

A case is described in which prenatal paternity determination was required, on account of suspected incest. Chromosome heteromorphisms were uninformative, but discrimination was achieved by HLA typing.
Amylo‐1,6‐glucosidase activity in cultured cells: A deficiency in type III glycogenosis with prenatal studies
Authors: Besley Guy T. N. , Cohen Patricia T. W. , Faed Michael J. W. , Wolstenholme John
Published: March 2007

Deficiency of amylo‐1,6–glucosidase activity was expressed in parallel in liver and skin fibroblasts from a patient with type III glycogenosis. In crude extracts of control liver and muscle, amylo‐1, 6–glucosidase (M.W. 164000) was identified by immunoprecipitation; no cross‐reacting material was found in the patient's liver.

Assay of amylo‐1,6–glucosidase activity in cultured skin fibroblasts from the affected family revealed less than 10 per cent of control value in mutant homozygous cells whereas in cells from the parents, activity was reduced to 40–60 per cent of the control value. Activity in cultured amniotic fluid cells was similar to that of control fibroblasts. In cultured amniotic fluid cells obtained during the mother's subsequent pregnancy, the normal amylo–1,6–glucosidase activity measured, predicted correctly the outcome of this pregnancy prior to the 20th week of gestation.
Prenatal diagnosis of pseudo arylsulphatase a deficiency
Authors: Kihara Hayato , Fluharty Aryan L. , Tsay Katherine K. , Bachman Ronald P. , Stephens John D. , Ng Won G.
Published: March 2007

Prenatal diagnosis was performed on a pregnancy at risk for metachromatic leukodystrophy (MLD) in a family with the pseudo arylsulphatase A deficiency trait. Extracts of cultured amniotic fluid cells were deficient in arylsulphatase A indicating that the fetus was either affected with MLD or had the benign pseudodeficiency trait. In the cerebroside sulphate loading test, the at risk cells hydrolysed sulphatide like control cultured amniotic fluid cells implying that the fetus had pseudodeficiency. The pregnancy was carried to term and a male child was delivered. Placenta, urine and fibroblasts had very low activities of arysulphatase A. However, no sulphatide could be detected in urine and growing fibroblasts responded normally in the cerebroside sulphate loading test, suggesting pseudodeficiency. At 29 months, the infant is healthy and shows no stigmata of MLD. The prediction based on the results of the cerebroside sulphate loading test on cultured amniotic fluid cells appeared to be borne out.
Prenatal diagnosis of X‐linked mental retardation with fragile (X) using fetoscopy and fetal blood sampling
Authors: Webb T. , Gosden C. M. , Rodeck C. H. , Hamill M. A. , Eason P. E.
Published: March 2007

Pure fetal blood, (uncontaminated with maternal blood), was obtained from two male fetuses at risk for X‐linked mental retardation with fragile(X) at Xq27–28 by direct vision fetoscopy and fetal blood sampling. Both were shown to have this fragile site on the X chromosome while nine other fetal blood samples from pregnancies at risk for other X‐linked diseases, or haemoglobinopathies did not show fragile sites at Xq27–28, and a blood sample from an abortus showed only 1 fragile site in 95 mitoses. Both pregnancies were terminated, cultures established from fetal tissues, and the diagnosis confirmed in each case. The problems of demonstrating the fragile site in tissues other than fetal blood in these pregnancies (such as amniotic fluid cells or fibroblasts from fetal tissues) are discussed.
Fetoscopy and fetal blood sampling in the management of a twin pregnancy with 45,X/46,XX amniotic fluid cell mosaicism and a suspected fluid sampling error
Authors: Garreit C. , Blunt S. , Daker M. G. , Sharp J. , Rodeck C. H.
Published: March 2007

A 37 year‐old woman with a twin pregnancy underwent amniocentesis to exclude fetal chromosome abnormality. The results indicated that both fetuses were mosaics, with 45,X and 46,XX, cell lines. Since it was suspected from the ultrasound scan that the twins were dizygotic, the result was questioned. Fetoscopy and fetal blood sampling were performed and karyotyping the fetal lymphocytes confirmed that one twin was indeed a mosaic, 45,X/ 46,XX, but the other had a normal male chromosome complement. The pregnancy resulted in the birth of a phenotypically normal girl, in whom the 45,X/46,XX mosaicism was confirmed, and a normal boy.
Prenatal diagnosis of the hurler syndrome: Report on 40 pregnancies at risk
Authors: Kleijer W. J. , Thompson E. J. , Niermeijer M. F.
Published: March 2007

In 40 pregnancies at risk for the Hurler syndrome 13 affected fetuses were detected by the demonstration of an α‐L‐iduronidase deficiency and an increased level of 35S‐sulphate incorporation. The diagnoses were confirmed by the analysis of fetal tissues and/or cultured fetal skin fibroblasts.

Microassays for α‐L‐iduronidase, using phenyl α‐L‐iduronide and more recently 4–methyl‐umbelliferyl α‐L‐iduronide, enabled a reliable diagnosis to be made within 15 to 18 days after amniocentesis.

35S‐sulphate incorporation has been a valuable adjunct in cases with a low (heterozygote) enzyme activity.
Early prenatal detection of diastrophic dysplasia
Authors: Kaitila Ilkka , Ämmälä Pirkko , Karjalainen Olavi , Liukkonen Sirkka , Rapola Juhani
Published: March 2007

Diastrophic dysplasia, an autosomal recessive disorder, results in severe short‐limbed dwarfism, progressive spinal and joint problems, and secondary psychosocial disability. The results of treatments are unsatisfactory.

Four pregnant mothers at risk for an affected fetus were studied with an ultrasound scanner at 16 and 19 weeks of gestation. Each mother had a previous child with diastrophic dysplasia. The biparietal distance and the length of the long bones of the extremities were normal in three fetuses, whereas in one fetus there was a 30 per cent shortening of all long bones. The biparietal distance corresponded with the gestational age in all fetuses. In one fetus, diastrophic dysplasia was confirmed by fetoscopy and fetal radiograph at 19 weeks of gestation after the parents had decided to terminate the pregnancy. The skeletal radiograph and autopsy findings of the fetus verified the diagnosis. All other mothers were followed with repeated ultrasound examinations, and they delivered healthy babies.

The retrospective follow‐up of the four previous pregnancies and of the present one with affected fetuses disclosed that two mothers had had vaginal bleeding, two lymphedema, one abdominal pains, and one mother had had polyhydramnios. These complications were, however, mild and transient, and they could not be regarded as specific for pregnancies with affected fetuses.
Cystic hygroma simulating an encephalocele
Authors: Nevin Norman C. , Nevin Jean , Thompson William , O'hara M. Denis
Published: March 2007

An ultrasound examination at 17 weeks gestation on a woman with a family history of spina bifida suggested that the fetus had a closed encephalocele. Amniotic fluid alphafetoprotein, rapidly adhering cells and acetylcholinesterase gel electrophoresis were normal. The pregnancy was terminated and the fetus was found to have a large cystic hygroma. It is suggested that in counselling parents of an infant or fetus with a cystic hygroma and with a normal chromosome constitution, ultrasound examination in future pregnancies is advisable, because of the possibility of autosomal recessive inheritance.
Human chromosomes in prenatal diagnosis: A one step high resolution technique
Authors: Shah J. V. , Verma R. S. , Rodriguez J. , Dosik H.
Published: March 2007

A simple high resolution technique for human chromosomes is described for fibroblasts obtained from amniotic fluid cell cultures. The application and clinical significance of this technique in prenatal diagnosis is discussed.
A simple and reliable method of chromosome banding for prenatal cytogenetics using a bromodeoxyuridine pulse
Authors: Eichenbaum S. Z. , Krumins E. J.
Published: March 2007

An extremely simple, fully defined and reliable technique for banding chromosomes in situ is described. The method uses a pulse of bromodeoxyuridine to produce replication pattern banding complete with G‐ and C‐type banding in the same karyotype. This enables immediate resolution of problems otherwise requiring extra subculturing and the application of conventional banding techniques. The value of routine chromosome banding in prenatal cytogenetics using such an economical technique is discussed.
Prenatal diagnosis of conjoined twins
Authors: Chatterjee Molly S. , Weiss Robert R. , Verma Uma L. , Tejani Nergesh A. , Macri J.
Published: March 2007

A case of conjoined twins with open spina bifida prenatally diagnosed at the twenty‐third week of gestation is presented. The early detection of this rare and unusual malformation was initiated by the observation of markedly elevated maternal serum alphafetoprotein values. Ultrasound evidence of a misshaped cephalic pole and the appearance of one fetal body on real‐time ultrasound was strongly suggestive. Elective midtrimester termination confirmed the prenatal diagnosis and was followed by a benign postpartum course.
False elevation of amniotic fluid enzymes of relevance for prenatal diagnosis: Creatine kinase measurement in relation to duchenne muscular dystrophy
Authors: Edwards R. J. , Rodeck C. H. , Watts D. C.
Published: March 2007

The creatine kinase activity of amniotic fluid was measured in samples collected at fetoscopy. In our first study, the control sample range was 0‐25 IU/1, although four samples had activities of 35–85 IU/1. Elevated values did not correlate with the activities in the fetal or maternal circulations. Electrophoresis revealed the presence of the BB isozyme of creatine kinase rather than just the MM form as expected. This suggested that the source of the elevated enzyme activity was from the myometrium, damaged by insertion of the trocar and cannula.

In a further series the first 2 ml of amniotic fluid withdrawn yielded a much higher creatine kinase activity than a second aliquot. A control series of such second samples (first 2 ml discarded) gave an activity range of 0–7 IU/1 with no spuriously high values. This compares favourably with a series from single samplings taken by amniocentesis. Normal creatine kinase activities were found in the amniotic fluids from 20 pregnancies at risk for Duchenne muscular dystrophy.

We conclude that for accurate measurement of amniotic fluid enzyme activity the first portion withdrawn should be discarded. Amniotic fluid creatine kinase activity is of no value for the prenatal diagnosis of Duchenne muscular dystrophy.
Prenatal diagnosis of citrullinemia: Elevated levels of citrulline in the amniotic fluid in the three affected pregnancies
Authors: Kleijer W. J. , Blom W. , Huijmans J. G. M. , Mooyman M. C. T. , Berger R. , Niermeijer M. F.
Published: March 2007

In three pregnancies at risk for citrullinemia affected fetuses were predicted both by strongly increased levels of citrulline in the amniotic fluid and by the reduced incorporation of 14C‐citrulline into TCA‐precipitable material in cultured amniotic fluid cells. The prenatal diagnoses of affected fetuses were confirmed after termination of the pregnancies by direct and indirect assays of argininosuccinate synthetase in the fetal livers and fibroblasts respectively.

Measurement of the citrulline concentration in amniotic fluid appears to be a valuable adjunct in the prenatal diagnosis of citrullinemia.
Amniotic fluid pregnancy‐specific β1‐glycoprotein (SP1) in fetal developmental disorders
Authors: Heikinheimo Markku , Jalanko Hannu , Leisti Jaakko , Kolho Kaija‐Leena , Salonen Riitta , Von Koskull Harriet , Aula Pertti
Published: March 2007

Concentration of pregnancy‐specific β1‐glycoprotein (SP1) was studied in second and third trimester amniotic fluid from pregnancies with various fetal developmental disorders. The material consisted of 26 cases with chromosomal disorders and 19 cases with nonchromosomal fetal malformations. The SP1 concentration was elevated in two cases of Meckel's syndrome (mean + 2.7–4.0 S.D.) as well as in one case of fetal triploidy (mean + 22 S.D.), while it was normal in all other 14 different fetal disorders.
Prenatal diagnosis of chondroectodermal dysplasia with fetoscopy
Authors: Bui The‐Hung , Marsk Lars , Eklöf Ole , Theorell Klas
Published: March 2007

Chondroectodermal dysplasia (Ellis‐van Creveld syndrome) has previously been diagnosed prenatally only once, using fetoscopy. We report on two consecutive pregnancies in a woman at risk of having a child with the syndrome during which fetoscopic visualization was performed. Ellis‐van Creveld syndrome was diagnosed prenatally in one instance, while it could be excluded in the other one. Non‐invasive prenatal diagnosis of the syndrome is discussed.
The effect of oxygen tension on colony formation and cell proliferation of amniotic fluid cellsin vitro
Authors: Held Karsten R. , Sönnichsen Sönke
Published: March 2007

The effects of reduced oxygen concentrations in the gas phase over the culture medium on colony formation and cell proliferation were investigated in high and low cell density primary and secondary cultures of amniotic fluid cells. Using two standard culture methods (25 cm2 plastic flasks and Leighton type tubes) a significantly reduced culture time was observed at high cell density for mass cultures by incubation within a low oxygen tension gas phase (2.5 per cent to 7.5 per cent O2) instead of conventional air (18 per cent O2). At low cell density colony formation was significantly enhanced in cultures grown at reduced oxygen tension. Using gas permeable membranes as support, lowering the oxygen tension from 7.5 per cent to 2.5 per cent yielded an increase in plating efficiency of cells from approximately 5 per cent to 25 per cent, whereas plating efficiency was less than 2 per cent for cells grown at ambient 18 per cent O2.

It is suggested that low oxygen tension in the gas phase is an effective means of enhancing clonal growth in amniotic fluid cell cultures, thereby reducing both culture time and risk of culture failure.
Prenatal diagnosis of hunter syndrome
Authors: Archer I. M. , Kingston H. M. , Harper P. S.
Published: March 2007

Sixteen pregnancies at risk for Hunter syndrome have been monitored by amniocentesis. Iduronate 2‐sulphate sulphatase levels were measured in amniotic fluid, cultured amniotic fluid cells and cord blood. Thirteen of the pregnancies resulted in normal livebirths, two are continuing and one affected pregnancy was terminated. Reduced enzyme levels were observed in either amniotic fluid, cells or cord blood for four female fetuses. Such fetuses are likely to be carriers expressing reduced enzyme levels. The affected male fetus had reduced enzyme activity in amniotic fluid; insufficient cells were cultured for enzyme estimation, however no enzyme activity was detected in fetal liver after termination. Eight cord blood enzyme estimations have been performed, five confirming normal male infants.
Improved direct molecular diagnosis and rapid fetal sexing
Authors: Hoar David I. , Haslam David B. , Starozik Deborah M.
Published: March 2007

Adaptations of the techniques of modern molecular biology to prenatal diagnosis has opened new avenues for the detection of genetic diseases. We have taken advantage of the rapid adhesion of colony forming cells in cultured amniotic fluid samples to develop an improved method for molecular diagnosis. By employing the cell adherence regime sickle cell diagnosis using Mst II can be undertaken directly. In addition, hybridization with a cloned repetitive sequence that is of Y origin and has limited autosomal homology permits rapid fetal sexing in 3 to 4 days without compromising conventional cytogenetic or biochemical analysis. This combination of techniques provides a useful adjunct to convential prenatal genetic diagnosis in the second trimester.
Prenatal detection of the congenital nephrotic syndrome (Finnish type) by trehalase assay in amniotic fluid
Authors: Morin Pierre R. , Potier Michel , Dallaire Louis , Melançon Serge B.
Published: March 2007

We report relatively high trehalase activity in the amniotic fluid of two fetuses affected with the congenital nephrotic syndrome of the Finnish type. The results suggest that prenatal detection of this condition can be done on this basis in conjunction with the α‐fetoprotein and acetylcholinesterase tests in amniotic fluid.
Creatine kinase estimation in pure fetal blood samples for the prenatal diagnosis of duchenne muscular dystrophy
Authors: Edwards R. J. , Watts D. C. , Watts R. L. , Rodeck C. H.
Published: March 2007

This paper compares the results of a survey of plasma creatine kinase (CK) activity measured in fetuses at‐risk for Duchenne muscular dystrophy (DMD) with a reliable control series. Only pure fetal blood samples obtained by fetoscopy at between 17–24 weeks gestational age were used. Of the at‐risk group 19 male pregnancies, mostly at low risk for DMD, proceeded to term with a normal outcome; there was no significant difference between their fetal plasma CK activities and the control group. Another 21 male pregnancies were terminated. This group included the highest risk mothers and hence was expected to contain a significant proportion of affected fetuses. The fetal plasma CK activity range was overlapping but significantly higher than the control group. No grossly elevated CK value was obtained. We conclude that, on average, DMD fetuses at this gestational age have higher plasma CK activity than controls. The problems of applying this finding to the prenatal diagnosis of DMD are discussed.
S‐100 protein in amniotic fluid of anencephalic fetuses
Authors: Sindic C. J. M. , Freund M. , Van Regemorter N. , Verellen‐Dumoulin Ch. , Masson P. L.
Published: March 2007

S‐100 protein, which is found essentially in the astrocytes of the nervous system, was assayed in amniotic fluids by Particle Counting Immuno Assay. It was present in 19 cases of anencephaly out of 26, in 1 case of open spina bifida out of 5 and in each of the 4 cases of fetal death, whereas it was not detected in the 48 control amniotic fluids collected between the 16th and the 35th week of gestation. Thirty‐one amniotic fluids from fetuses with other congenital malformations were devoid of detectable S‐100. The presence of S‐100 in amniotic fluid of anencephalic fetuses can presumably be considered as a biological sign of necrosis of the exencephalic brain and seems specific to damage of the central nervous system accompanied by neural tube defect.
Prenatal diagnosis of atypical tay‐sachs disease by chorionic villi sampling
Authors: Besançon A. M. , Belon J. P. , Castelnau L. , Dumez Y. , Poenaru L.
Published: March 2007

We studied a family at risk for atypical TSD in which the index case showed, clinically, a late onset and a gradual psychomotor deterioration and biochemically, a residual hex. A activity in leucocytes.

Two prenatal diagnoses of affected fetuses were made in this family, The first one on amniotic cells, the second one on trophoblast biopsy samples. Both of them were confirmed after abortion on cultured cells.

Prenatal diagnosis of TSD, even of some atypical forms is possible using trophoblast biopsy, but formal confirmation should be obtained on cultured trophoblasts.
Cystic hygromata in trisomy 18 and 21
Authors: Pearce J. Malcolm , Griffin David , Campbell Stuart
Published: March 2007

Prenatal diagnosis of cystic hygromata by means of ultrasound examination is possible and highly accurate. Although this is usually associated with Turner's syndrome especially if there is co‐existent hydrops fetalis we report three cases in which cystic hygromata were associated with trisomies; two cases of trisomy 21 and one of trisomy 18.
Prenatal diagnosis of recurrence of cystic hygroma with normal chromosomes
Authors: Dallapiccola Bruno , Zelante Leopoldo , Perla Gianni , Villani Giuseppe
Published: March 2007

Cyst‐like masses in the neck and back region, simulating an encephalocele, were detected by midtrimester ultrasound examinations in two sib fetuses. After termination, the fetuses were found to have large cystic hygromas.

The present observation strongly suggests the existence of an autosomal recessive type of cystic hygroma.
Prenatal diagnosis of trisomy 9 mosaicism possibly limited to fetal membranes
Authors: Pfeiffer R. A. , Ulmer R. , Kniewald A. , Wagner‐Thiessen E.
Published: March 2007

In repeat amniotic fluid cultures mosaicism due to trisomy 9 was noted. Autopsy of the aborted female fetus showed a sinus urogenitalis and gonadal dysgenesis with absence of germ cells only. Fetal lymphocytes and skin fibroblasts had a normal karyotype but trisomy 9 was found in cells grown from placenta. It is likely that trisomic cells were limited to fetal membranes.
Prenatal detection of rubella‐specific IgM in fetal sera
Authors: Morgan‐Capner P. , Rodeck C. H. , Nicolaides K. H. , Cradock‐Watson J. E.
Published: March 2007

Serum specimens were obtained by fetoscopy at 19–25 weeks' gestation from four fetuses whose mothers had had confirmed rubella earlier in pregnancy. They were tested for rubellaspecific IgM by antibody capture radioimmunoassay. No specific IgM was detected in one fetus and a healthy infant was delivered at term. Specific IgM was detected in the other three fetuses. In one case the level was low (1 unit) and this pregnancy went to term resulting in a neonate with clinical and laboratory evidence of congenital rubella infection. The remaining two fetuses had 2.8 and 2.4 units of specific IgM and the pregnancies were terminated. Blood obtained from these two fetuses after abortion showed levels of 5.4 and 2.9 units respectively. No specific IgM was detected in sera from eleven other fetuses aborted because of maternal rubella but five of these cases were terminated before 19 weeks and in five the interval between rash and abortion was three weeks or less.

The results show that the human fetus can produce detectable specific IgM antibody by 19–20 weeks' gestation after exposure to rubella sevella several weeks earlier. However, a larger study is required to define the reliablity of fetoscopic blood sampling for the diagnosis of intrauterine infection.
Early prenatal diagnosis of congenital hypophosphatasia: Case report
Authors: Wladimiroff J. W. , Niermeijer M. F. , Van Der Harten J. J. , Stewart P. A. , Versteegh F. G. A. , Blom W. , Huijmans J. G. M.
Published: March 2007

Congenital hypophosphatasia is an autosomal recessive disorder, which usually has a fatal outcome during the neonatal period. This report presents the prenatal diagnosis of hypophosphatasia at 16 weeks of gestation. The characteristic ultrasonic findings in this abnormality demonstrate the superiority of ultrasound as compared with radiography.
A comparative study of microvillar enzyme activities in the prenatal diagnosis of cystic fibrosis
Authors: Brock David J. H.
Published: March 2007

The potential of four enzyme‐based analytical systems has been compared in the secondtrimester prenatal diagnosis of cystic fibrosis (CF). Direct activity measurements were made of γ‐glutamyltranspeptidase (GGTP), aminopeptidase M (APM) and the intestinal isoenzyme of alkaline phosphatase (ALP). In the fourth system the proportions of total ALP inhibited by phenylalanine and homoarginine, respectively, were assessed. Each system was applied to amniotic fluid samples from 94 pregnancies with al in 4 risk of CF, divided into retrospective (36) and prospective (58) series.

No system gave an absolute separation of affected from unaffected cases. Measurement of APM and intestinal ALP (phenylalanine‐inhibitable ALP) gave a better detection rate for CF (35 of 41 cases, 85 per cent) than did measurement of GGTP (63 per cent) or assessment of ALP proportions (76 per cent). APM had a lower false positive rate (4 per cent) than intestinal ALP (8 per cent). For both the latter systems the detection rate of CF rose to 96 per cent (25 of 26), if gestations less than 17 weeks were excluded.
Amniotic fluid disaccharidases in the prenatal detection of cystic fibrosis
Authors: Kleijer W. J. , Janse H. C. , Van Diggelen O. P. , Niermeijer M. F.
Published: March 2007

Intestinal disaccharidases in amniotic fluid were studied in 41 pregnancies with a recurrence risk for cystic fibrosis (CF). In 11 out of 13 pregnancies with CF fetuses the maltase and sucrase activities were either below the control range (8 cases) or below the 10th percentile of control values (3 cases). Trehalase and lactase were slightly less informative indicators of CF. Of the other 28 pregnancies 3 had low amniotic fluid activities of several intestinal enzymes and were terminated, 12 resulted in the birth of a healthy child and 13 are continuing.

The findings in fetal CF suggest an impairment of the defaecation of intestinal contents into the amniotic fluid.

Reduced or low amniotic fluid disaccharidase activities were also found in other fetal disorders with demonstrated or presumed intestinal anomalies: e.g. anal atresia (2 cases), anencephaly (3 our of the 7 cases), trisomy 13 (5 cases), trisomy 18 (3 of the 5 cases) and trisomy 21 (19 of the 22 cases).

Reduced amniotic fluid disaccharidase activities, although not specific for CF, are highly informative in pregnancies at high risk for CF. Using the 10th percentile of the normal range for amniotic fluid disaccharidase activities as an action line, the sensitivity of CF detection is estimated at 80 to 90 per cent, which could in high risk pregnancies reduce the risk of having another affected child from 1 in 4 to 1 in 20.
Disaccharidase deficiency in amniotic fluid from cases of cystic fibrosis
Authors: Schwartz Marianne , Brandt Niels Jacob
Published: March 2007

The activities of the disaccharidases maltase and sucrase in 4 amniotic fluid from cystic fibrosis (CF) pregnancies have been compared to those of 120 non CF‐pregnancies. Very low levels were found in 3 of the CF‐fluids. The fourth CF‐fluid was normal in all measured microvillar enzyme activities.

Elevated levels of disaccharidases in meconium from one of the patients born with CF, supports the idea that these enzymes are trapped in the intestinal cavity by sticky meconium.
Prenatal diagnosis of mucopolysaccharidosis I: A special difficulty arising from an unusually low enzyme activity in mother's cells
Authors: Gatti R. , Borrone C. , Filocamo M. , Pannone N. , Di Natale P.
Published: March 2007

We investigated a case (1.1.) of the severe form of mucopolysaccharidosis I (Hurler syndrome). Prenatal diagnosis was requested by the parents and the next pregnancy was monitored. We report here a special difficulty arising in this diagnosis due to the low enzyme activity in the mother's cells (10–15 per cent of controls) as well as in amniotic cells and would like to stress the need for studying the index case as well as the parents' enzyme activities in order to be prepared for possible difficulties at prenatal analysis.
First trimester diagnosis of lesch‐nyhan syndrome: Applications to other disorders of purine metabolism
Authors: Stout J. Timothy , Jackson Laird G. , Caskey C. Thomas
Published: March 2007

The prenatal detection of hypoxanthine phosphoribosyltransferase (HPRT, EC 2.4.2.8) deficiency, the Lesch‐Nyhan syndrome, during the first trimester of an affected pregnancy through the use of chorionic villus sampling is reported. Quantitation of reaction products formed by villus cell extracts from exogenous hypoxanthine‐8‐[14C] or adenine‐8‐[14C] is used in diagnosis. We report the diagnosis of Lesch‐Nyhan syndrome using a chorionic villus specimen and confirmation of that diagnosis.

In addition, adenosine deaminase (ADA) and purine nucleoside phosphorylase (PNP), enzymes deficient in inherited immune disorders, are detected in chorionic villus samples. These heritable disorders also appear amenable to early prenatal diagnosis.
Temporal changes in the utilization of amniocentesis for prenatal diagnosis by women of advanced maternal age, 1976–1983
Authors: Baird P. A. , Sadovnick A. D. , McGillivray B. C.
Published: March 2007

Utilization of amniocentesis for prenatal diagnosis because of the indication of advanced maternal age (≥ 35 years at delivery) was examined in the population of B.C. over an 8‐year period (1976–1983). As of 1983, approximately one out of three eligible women (≥ 35 years at delivery) is having the test. In the older group (≥ 38 years at delivery) approximately one out of two eligible women is having the test. The data do not indicate that the proportion of eligible women having amniocentesis has reached a plateau; utilization is continuing to increase. It appears that prenatal diagnosis is an ethically acceptable alternative for a large proportion of the population.
A possible prenatal evaluation of renal function by amino acid analysis on fetal urine
Authors: Lenz Suzan , Lund‐Hansen Torben , Bang Jens , Christensen Ernst
Published: March 2007

Intrauterine treatment of 4 fetuses with urethral obstruction was attempted in the third trimester of pregnancy. The fetuses displayed varying sonographic findings including pyelectasis, caliectasis, hydroureter, bladder dilatation, ascites, hydrops, missing kidneys and oligohydramnios. Ultrasonically guided aspiration from the dilated structures was carried out to relieve pressure on the kidney parenchyme and to collect fluid samples for diagnostic purposes. Amino acid concentrations in the fetal urine showed a pattern similar to plasma in 2 fetuses, a pattern almost like urine in 1 fetus and an intermediate pattern in the 4th fetus. Only the fetus with normal amino acid concentrations in the urine survived: the other 3 died in uremia shortly after birth.

In 3 cases cells from the aspirated urine were cultured and used for chromosome analysis. The cell cultures grew fast and karyotyping was possible within 1 week.

In 2 fetuses an intrauterine catheter was inserted to drain the kidney permanently into the amniotic cavity. In the first case the catheter was displaced to the fetal abdomen after some days of successful drainage. In the second case the catheter tore the placenta, and the child had to be delivered immediately.
The cerebro‐hepato‐renal (Zellweger) syndrome: Prenatal detection based on impaired biosynthesis of plasmalogens
Authors: Schutgens R. B. H. , Schrakamp G. , Wanders R. J. A. , Heymans H. S. A. , Moser H. W. , Moser A. E. , Tagers J. M. , Bosch H. V. D. , Aubourm P.
Published: March 2007

Prenatal diagnosis of the cerebro‐hepato‐renal (Zellweger) syndrome has been performed in 10 pregnancies at risk by measuring both the activity of acyl CoA: dihydroxyacetonephosphate acyltransferase (DHAP‐AT) and the de novo plasmalogen biosynthesis, either in cultured amniotic fluid cells or in fibroblasts cultured from a chorionic villus biopsy.

In 7 of the pregnancies both tests indicated no abnormality. All 7 continued to term and normal infants were delivered. However, in amniotic fluid cells from 2 fetuses affected by Zellweger syndrome unequivocal differences from control values were found. The activity of DHAP‐AT was clearly deficient and the de novo plasmalogen biosynthesis was impaired.

In one pregnancy at risk prenatal diagnosis was performed during the first trimester by measuring both the DHAP‐AT activity and the de novo plasmalogen biosynthesis in fibroblasts cultured from a chorionic villi biopsy. From the deficient DHAP‐AT activity and the impaired de novo plasmalogen biosynthesis it was concluded that the fetus was affected. This was confirmed biochemically after induced abortion.

It can be concluded that measurement of the DHAP‐AT activity and the de novo plasmalogen biosynthesis provides convenient methods for the early prenatal detection of Zellweger syndrome.
Normal blood cell values in the early mid‐trimester fetus
Authors: Millar D. S. , Davis L. R. , Rodeck C. H. , Nicolaides K. H. , Mibashan R. S.
Published: March 2007

Samples of pure fetal blood from 116 fetuses of 15–21 weeks' gestation were obtained by direct vision fetoscopy. Ninety nine of these fetuses, presumed to be haematologically normal, were suitable for analysis. The data obtained show that the erythropoietic system is evolving rapidly in this gestational age range. The myeloid series shows no significant increase or decrease in numbers apart from eosinophils and basophils which increase significantly with gestational age whereas the platelet count remains constant. The growing application of fetoscopic blood sampling to the prenatal diagnosis and management of fetal blood disorders renders mandatory a knowledge of normal fetal blood values.
Effects of mid‐trimester induced abortion on the subsequent pregnancy
Authors: Seller Mary J. , Hancock Philippa C.
Published: March 2007

The outcome of the pregnancy following (a) a mid‐trimester termination of pregnancy (TOP) for fetal neural tube defect (NTD) (77 women=group 1); (b) mid‐trimester TOP for fetal Down's syndrome (13 women=group 2); (c) delivery of a baby with NTD (119 women=group 3) was studied. The prenatal fetal loss was relatively high in all groups. In group 1 it was similar to that found in other studies after first trimester TOP, in group 2 it was associated with advanced maternal age and the unexpected finding in group 3 was not attributable to advanced maternal age. It is suggested that a previous NTD per se might increase the risk of fetal loss in the next pregnancy. A previous mid‐trimester TOP for NTD was not associated with an increase in premature labour, small for dates babies or congenital abnormality in the next pregnancy, but there was a slight increase in the number of babies weighing less than 2500 g.
Cytogenetic prenatal diagnosis and its relative effectiveness in the mersey region and North Wales
Authors: Walker S. , Howard P. J.
Published: March 2007

The relative effectiveness of cytogenetic prenatal diagnosis in the Mersey Region and North Wales is presented by estimating the percentage detection rates of Down's syndrome annually following amniocentesis from 1978–1984 inclusive. Tables indicating the percentage of screened pregnancies, types of chromosomal aberrations detected and the occurrence of Down's syndrome in mothers in age groups of five‐year intervals are also presented.

The average prenatal detection rate for Down's syndrome (estimated at the time of birth) was 15–15 per cent over the years 1978–1984 and was above 22 per cent for the last two years when 44–13 per cent of all pregnancies to mothers of 35 years and over were investigated.
Clinical significance of persistent amniotic fluid leakage after genetic amniocentesis
Authors: Crane James P. , Rohland Barbara M.
Published: March 2007

Chronic amniotic fluid leakage is a rare complication of genetic amniocentesis. Pregnancy outcomes in two such patients are presented and six previous cases reviewed. Although chorioamnionitis has not been reported, potentially serious complications may occur including an increased risk for pre‐term delivery and fetal skeletal deformity. While conservative management of post‐amniocentesis amniotic fluid leakage is advocated, patients should be advised of these risks.
Antenatal sonographic diagnosis of arthrogryposis multiplex Congenita
Authors: Goldberg James D. , Chervenak Frank A. , Lipman Robert A. , Berkowitz Richard L.
Published: March 2007

Arthrogryposis Multiplex Congenita (AMC) was suspected on ultrasound examination of a fetus at 30·5 weeks of gestation. The criteria for establishing this prenatal diagnosis as well as the importance of establishing the diagnosis at any gestational age are discussed. The diagnosis of AMC was confirmed at birth in this case.
Chorionic villi sampling changes maternal serum alpha‐fetoprotein
Authors: Mariona Federico G. , Bhatia Rupi , Syner Frank N. , Koppitch Frederick
Published: March 2007

Second trimester amniocentesis has traditionally been utilized for prenatal genetic diagnosis. Chorionic villi sampling (CVS) is presently offered as an alternative. The occurrence of fetomaternal bleed (FMB) during CVS could increase the rate of post sampling abortion and, additionally, be of significance in patients at risk for isoimmunization. Detection and quantitation of FMB can be accomplished by the determination of changes in maternal serum alpha‐fetoprotein (MSAFP) before and after CVS.
Pericentric inversion of chromosome 19: prenatal diagnosis and genetic counselling
Authors: Tharapel Avirachan T. , Ward Jewell C. , Wiggins Lee , Wilroy R. Sid
Published: March 2007

During prenatal diagnosis for advanced maternal age, a pericentric inversion of a chromosome 19 was detected in a male fetus. The inversion was familial, transmitted to the fetus by the phenotypically normal mother. The pregnancy resulted in a term birth of a phenotypically normal male infant. Inversion 19 appears to be a rare abnormality with only seven families reported thus far including ours. Infants with duplication deficiencies for chromosome 19 have not been reported in these families. This may suggest an apparent suppression of crossing over and recombination within the inverted segment of chromosome 19 during meiosis.
Neural tube defects in trisomy 18
Authors: Flannery David B. , Kahler Stephen G.
Published: March 2007

In a retrospective survey, the incidence of neural tube defects in liveborn trimsomy 18 was found to be 6·2 per cent. Based on these data one would expect to find trisomy 18 in 1 of the 117 patients with myeloidysplasia; the incidence of trisomy 18 in dysraphic fetuses would be anticipated to be higher. These observations underscore the need for amniocentesis karyotyping of fetuses with neural tube defects, and the importance of careful examination of infants born with neural tube defects.
The development of fetal behavioural states: A longitudinal study
Authors: Arduini D. , Rizzo G. , Giorlandino C. , Valensise H. , Dell'Acqua S. , Romanini C.
Published: March 2007

In order to evaluate the development of fetal behavioural states a longitudinal study was performed on 35 healthy fetuses during the last trimester of pregnancy. Fetal heart rate (FHR), gross fetal body movements (FM), fetal eye movements (FEM), fetal breathing movements (FBM) and micturition were simultaneously studied at two‐week intervals from 28 weeks gestation onwards. Well‐defined fetal behavioural states were observed only after 36 weeks gestation. Between 28 and 36 weeks the quiet‐activity cycle of FHR was always detected and some fetal biophysical activites seemed to become related around this cycle.
Transabdominal chorionic villi sampling for first trimester fetal diagnosis. First 26 pregnancies followed to term
Authors: Smidt‐Jensen Steen , Hahnemann Niels , Hariri Jalil , Jensen Peter K. A. , Therkelsen Aage J.
Published: March 2007

A consecutive series of 26 women followed to term after first trimester transabdominal chorionic villi sampling is presented. The clinical application of transabdominal chorionic villi sampling (TA‐CVS) seems to have certain advantages, especially from the patients' point of view, but also in regard to successful sampling and to the complication ratio. The results in this clinical trial revealed no cases of abortions, no signs of placental damage and no cases of vaginal bleeding or infections.
Prenatal diagnosis of dyssegmental dwarfism
Authors: Kim Hyon Ju , Costales Fernando , Bouzoukl Maria , Wallach Robert C.
Published: March 2007

Fetal ultrasound evaluations at 18 weeks gestation on two consecutive pregnancies of a woman who previously gave birth to a stillborn female affected with dyssegmental dwarfism, resulted in accurate diagnoses of unaffected and affected fetuses. Marked disorganization of vertebral bodies and associated encephalocele found in two affected cases in this family are consistent with the original observation of this new syndrome as two major aspects which differentiate it from other forms of lethal dwarfism.