bluuebunny/crossref_metadata_2025 huggingface dataset:
Prenatal investigation of a 45,X/46,X,r(?) karyotype in amniocytes using fluorescence in situ hybridization with an X‐centromeric probe
Authors: Bajalica Svetlana , Bui The‐Hung , Koch Jørn , Bröndum‐Nielsen Karen
Published: March 2007

The karyotype of cultured amniotic fluid cells obtained on the indication of advanced maternal age was shown to be a mosaic 45,X/46,X,r(?). The small size and banding pattern made it difficult to determine whether the ring was derived from and X or a Y chromosome, or even from an autosome. By using an X‐centromeric probe and fluorescence in situ hybridization (FISH), we demonstrated the ring to have an X centromere. Thus, a more complete genetic counselling was possible. This confirms the usefulness of FISH in identifying and characterizing this and other chromosome rearrangements in prenatal diagnosis.
Hyperechogenic areas detected in fetal chest at routine ultrasound examination. Three cases
Authors: Sands R. H. , Lilford R. J.
Published: March 2007

Three cases of intrathoracic hyperechogenic areas on fetal ultrasound are described. Two apparently resolved spontaneously and the infants are alive at 1 year and 7 months, respectively. The third infant was found to have a pulmonary sequestration of the extra‐lobar variety which required surgical resection.
Prenatal identification of small mosaic markers of different chromosomal origins
Authors: Stetten Gail , Blakemore Karin J. , Courter Anne M. , Coss Cathleen A. , Jabs Ethylin Wang
Published: March 2007

In situ hybridization using a series of alphoid DNA probes has demonstrated the origin of two small accessory mosaic marker chromosomes ascertained from 1079 amniocenteses. These markers appeared to be de novo, derived from acrocentric chromosomes, and identical by traditional cytogenetic staining (G, Q, C, AgNOR, Hoechst‐distamycin). Molecular characterization showed that one marker had originated from chromosome 14, the other from chromosome 22. Clinical outcome in both cases was normal.
Amniotic fluid levels of human chorionic gonadotropin and its alpha and beta subunits in second‐trimester chromosomally abnormal pregnancies
Authors: Wolf Gordon C. , Byrn Francis W. , McConnell Thomas S. , Khazaeli M. B.
Published: March 2007

Amniotic fluid from 135 pregnancies was assayed for human chorionic gonadotropin (hCG) and its free alpha (ahCG) and free beta (bhCG) subunits. Forty‐six chromosomally abnormal pregnancies between 14 and 20 weeks' gestation were matched with 89 chromosomally normal samples. Compared with controls, trisomy 21 pregnancies exhibited significantly elevated levels of all three peptides, whereas trisomy 18 gestations gave rise only to significant elevation of ahCG. Female fetuses in both the trisomy 21 and trisomy 18 pregnancies provided significantly elevated levels of hCG and bhCG compared to their male counterparts. On converting the values to multiples of the median, it was determined that 6 of 7 trisomy 18 samples had abnormally elevated alpha/beta ratios, as did 6 of 21 Down's syndrome pregnancies. Further, 11 of 21 trisomy 21 gestations had abnormal amniotic fluid hCG levels. Using only ahCG, bhCG and their ratio, a 61 per cent sensitivity was found for these trisomies, with a 96 per cent specificity.
The dilemma of a low rate of chromosomal mosaicism found in fetal blood sampling
Authors: Fejgin Moshe , Barnes Inbal , Lipnick Noami , Magid Zipporah , Kohn Gertrude , Amiel Aliza
Published: March 2007

We report a case in which mosaicism of trisomy 13 was detected in 4/10 cells (40 per cent) in amniotic fluid cell cultures, followed by a low rate of mosaicism (1/160 cells) detected in a fetal blood sample. This finding presents a dilemma both for the genetic counsellor and for the parents in determining whether or not to terminate the pregnancy.
Use of the chemical cleavage of mismatch method for prenatal deficiency diagnosis of alpha‐1‐antitrypsin
Authors: Forrest S. M. , Dry P. J. , Cotton R. C. H.
Published: March 2007

The most common mutation in alpha‐1‐antitrypsin deficiency, conversion of a G to an A at base 9989 (PI‐Z), was detected with the chemical cleavage of mismatch method, demonstrating the power of the method for prenatal diagnosis. Exon V of the gene was amplified using the polymerase chain reaction and heteroduplexes were formed to test for the presence of the mutation. The predicted C mismatch was readily detectable with hydroxylamine, and by making the probe from the chorionic villus sample it was possible to determine that the fetus was heterozygous, not homozygous, for the mutation.
Fetal karyotype from cystic hygroma fluid
Authors: Ville Y. , Borghi E. , Pons J. C. , Lelorc'H M.
Published: March 2007

In cystic hygroma (CH) fetuses, hydrops fetalis and anamnios make it difficult or impossible to obtain amniotic fluid or cord blood for cytogenetic analysis. We report six cases of CH in which cytogenetic analysis was simply and successfully performed using nuchal fluid cells. The karyotypes were 47,XY, + 18,46,XY, 46,XX, and 45,X (n = 3).
First‐trimester prenatal diagnosis of Roberts syndrome
Authors: Stioui S. , Privitera O. , Brambati B. , Zuliani G. , Lalatta F. , Simoni G.
Published: March 2007

We present a case of prenatal detection of premature centromere separation on chorionic villi sampled at 8 weeks' gestation from a woman at risk of recurrence of Roberts syndrome. The same cytogenetic characteristic was confirmed on amniocytes at 14 weeks when ultrasound examination showed morphological anomalies of the fetus. To our knowledge, this is the first report of early prenatal diagnosis of Roberts syndrome.
Prenatal diagnosis of familial congenital pyloric atresia
Authors: Peled Yoav , Hod Moshe , Friedman Shmuel , Mashiach Reuven , Greenberg Nirit , Ovadia Jardena
Published: March 2007

Familial congenital pyloric atresia is a rare malformation of the fetal gastrointestinal tract. It usually manifests as maternal polyhydramnios and enlarged fetal stomach on ultrasound scan. Sonographic prenatal diagnosis and management of a pregnancy complicated by familial congenital pyloric atresia are presented.
Factors associated with multiple‐pass procedures during chorionic villus sampling: A video analysis
Authors: Silver Richard K. , Macgregor Scott N. , Hobart Edward D.
Published: March 2007

Multiple placental passes during chorionic villus sampling (CVS) increase the risk of fetal loss; however, specific factors that predispose to repeat aspiration have not been delineated. To identify anatomic and technical variables associated with multiple‐pass procedures, a detailed review of 205 videotaped CVS procedures (single pass = 163; multiple pass = 42) was performed, blinded to pregnancy outcome. The route of sampling did not influence the need for multiple aspiration attempts (transabdominal—30/ 135; transcervical—12/70), nor was placental location alone discriminatory. However, the combination of a posterior placenta and uterine retroversion was observed more frequently in the multiple‐pass cohort (8/42 vs. 9/163; p<0.05). In transabdominal cases, suboptimal needle placement (e.g., perpendicular to the placental long axis) was more common in the initial aspiration of a multiple‐pass procedure (21/30 vs. 38/105;p<0.01), while limited penetration of the catheter tip (e.g., just inside the placental edge) characterized a majority of multiple‐pass cases in the transcervical subset (7/12 vs. 3/58; p<0.0001). A case‐control cohort was constructed to evaluate the impact of these technical variables on sampling efficacy, independent of the influence of uterine position and placental site. In that analysis, suboptimal location and/or orientation of the sampling device remained characteristic of multiple‐pass cases. We conclude that further reduction in the frequency of multiple‐pass procedures might be achieved by consistent placement of the device tip in the central placental mass. Unlike amniocentesis, where any point of amnion entry will suffice, this technical nuance should be emphasized with CVS to maximize the single‐pass success rate.
The psychological effects of false‐positive results in prenatal screening for fetal abnormality: A prospective study
Authors: Marteau Theresa M. , Cook Rachel , Kidd Jane , Michie Susan , Johnston Marie , Slack Joan , Shaw Robert W.
Published: March 2007

The purpose of the study was to describe the impact of false‐positive results from initial maternal serum alpha‐fetoprotein (MS‐AFP) screening. The analyses compared two groups of women, those receiving a negative result (n = 346) and those receiving an initial positive result (n = 26), over four time points—prior to testing, immediately after testing, later in pregnancy, and in the post‐partum period. Receiving an abnormal result was associated with high levels of anxiety which were reflected in increased worry about the baby's health and a more negative attitude towards the pregnancy and the baby. Women who had an initial abnormal result were offered a variety of further tests. Those women who went on to have amniocentesis were less worried about their baby's health in the third trimester and also less anxious post‐partum than those who did not have amniocentesis. In view of the increasing number of screening tests available, it is necessary to establish whether and how these levels of distress can best be reduced.
CA‐125 as a maternal serum marker for Down's syndrome in the first and second trimesters
Authors: Høgdall C. K. , Høgdall E. V. S. , Arends J. , Nørgaard‐Pedersen B. , Smidt‐Jensen S. , Larsen S. O.
Published: March 2007

CA‐125, alpha‐fetoprotein (AFP), and human chorionic gonadotropin (HCG) were determined in maternal serum in the first trimester from 14 women with a Down's syndrome fetus and 61 women with a healthy fetus. In the second trimester, 15 and 60 serum samples were determined from women with a Down's syndrome and a healthy fetus respectively. In both trimesters, maternal serum CA‐125 was found to be elevated in Down's syndrome pregnancies compared with controls. Using discrimination functions, our preliminary results indicate that CA‐125 is a better marker than AFP and HCG respectively for a Down's syndrome fetus in the first trimester and improves the detection rate in the second trimester.
Rapid prenatal diagnosis of trisomy 18 and triploidy in interphase nuclei of uncultured amniocytes by non‐radioactive in situ hybridization
Authors: Christensen Britta , Bryndorf Thue , Philip John , Lundsteen Claes , Hansen Winnie
Published: March 2007

Two biotinylated chromosome‐specific DNA probes were used to quantify the number of chromosomes 18 and 1 in uncultured amniocytes. Thirty‐three samples of uncultured amniocytes were hybridized with a chromosome 18‐specific DNA probe. Uncultured cells from two of the 33 samples were also hybridized with a chromosome 1‐specific probe.

Thirty of the samples were disomic with respect to chromosome 18; two samples were trisomic with respect to chromosome 18, and one sample was trisomic with respect to chromosomes 1 and 18. The two cases of trisomy 18 and the single case of triploidy were identified on uncultured celis within 48‐72 h after amniocentesis. They were found among five samples from pregnant women who had amniocentesis because of an ultrasonographically identified fetal malformation.

A trisomic karyotype could be diagnosed with certainty in uncultured amniocytes because the majority of the responding nuclei exhibited three hybridization signals. In normal cells, the majority of nuclei exhibited two signals. In no cases was there discordance between the genotype as predicted by in situ hybridization and that determined by cytogenetic analysis.
Improved performance in a prenatal screening programme for Down's syndrome incorporating serum‐free hCG subunit analyses
Authors: Ryall R. G. , Staples A. J. , Robertson E. F. , Pollard A. C.
Published: March 2007

A prenatal screening programme for Down's syndrome potentially detecting 76 per cent of affected pregnancies in the South Australian general population at an amniocentesis rate of 3.9 per cent was designed following analysis of mid‐trimester serum samples from 57 women who carried an affected fetus. This equates to one affected pregnancy being detected for 41 chromosomal analyses performed. For the experimental series, 75.4 per cent of affected pregnancies were detected, while 4.1 per cent of control specimens produced estimated risk odds consistent with further action. A maternal risk odds of birth of a Down's syndrome fetus of 1:420 was taken as the decision value, which is the prevalence of Down's syndrome births to 35‐year‐old mothers in South Australia. This screening performance was achieved by investigating combinations of serum analytes not previously reported and by refining the calculation of maternal risk odds to include selective weighting of indicator analytes. Combination of the measurements of free α‐subunits and β‐subunits of chorionic gonadotrophin, α‐fetoprotein, unconjugated oestriol, and placental lactogen was found to be most effective in indicating Down's syndrome fetuses. In all combinations of analytes tested, replacing the measurements of free α‐subunits and free β‐subunits of chorionic gonadotrophin with the measurement of intact chorionic gonadotropin produced a less effective screen.
Cardiotocographic and sonographic findings in two cases of antenatally diagnosed intrauterine fetal brain death
Authors: Zimmer Etan Z. , Jakobi Peter , Goldstein Israel , Gutterman Eliahu
Published: March 2007

Intrauterine fetal brain death is a rare cause of a fixed fetal heart rate pattern. Seven cases have been previously reported in the literature, but only two of them were diagnosed prenatally and all the newborns died soon after delivery. Two additional cases of antepartum diagnosis of intrauterine fetal brain death, managed expectantly, are reported. We had the unique opportunity to document progressive sonographic cerebral changes during the follow‐up period, following the neurological event, while the fetus continued life and growth in utero. The cardiographic and sonographic findings suggesting intrauterine fetal brain death were a prolonged fixed fetal heart rate, even following a vibroacoustic and contraction stress test; an atonic fetus without breathing and body movement; and the appearance of hydramnios and the development of ventriculomegaly.
Genetic amniocentesis at 7–14 weeks of gestation
Authors: Jørgensen Finn Stener , Bang Jens , Lind Anne‐Marie , Christensen Britta , Lundsteen Claes , Philip John
Published: March 2007

Genetic amniocentesis performed at 7–14 weeks of gestation was studied in a series of 138 patients of whom 50 wanted termination of pregnancy (⩽ 12 weeks). The material for analysis consisted of 132 samples due to two sampling failures and four samples being handled incorrectly. Forty‐eight samples (36 per cent) were taken at 7–12 weeks of gestation, mainly transvaginally (36/48:75 per cent). The success rate of culture and karyotyping increased with the duration of pregnancy, but was only satisfactory from week 11 onwards. The time until harvest was then 14–15 days.

The transvaginal approach is easy to perform and was accepted by the women, but we experienced bacterial or fungal overgrowth in 17 per cent of these samples, whereas no infection occurred in the samples taken transabdominally (n = 96).

We conclude that genetic amniocentesis is feasible from week 11, but further studies concerning side effects, especially focusing on the procedure‐related abortion risk, should be carried out before early amniocentesis is routinely applied.
Clues and pitfalls in the early prenatal diagnosis of ‘late onset’ infantile polycystic kidney
Authors: Bronshtein M. , Bar‐Hava I. , Blumenfeld Z.
Published: March 2007

Infantile polycystic kidney disease (IPKD) is an autosornal recesive inherited disorder, IPKD has been previously diagnosed by us as early as the 14th week of gestation. ‘Late onset’ (third trimester) IPKD has been previously described by several authors. We present here a case of intrauterine detection of ‘late onset’ IPKD, suggesting that elongated hyperechogenic kidneys (with normal transverse and anteroposterior diameters) should be considered as an early sign of ‘late onset’ presenting IPKD.
Prenatal diagnosis of Fryns' syndrome
Authors: Pellissier M. C. , Philip N. , Potier A. , Scheine C. , Aymé S. , Mattei J. F. , Giraud F.
Published: March 2007

We report on a new case of ultrasonographic prenatal diagnosis of Fryns' syndrome during the second pregnancy of a young woman whose first child died 90 min after birth and was diagnosed as having this autosomal recessive condition. The feasibility of diagnosis in utero and timing in the phenotypic expression of this multimalformation syndrome are discussed.
High levels of maternal serum alpha‐fetoprotein and human chorionic gonadotrophins leading to the diagnosis of combined neural tube defect and partial mole
Authors: Zalel Y. , Weiner E. , Zabari A. , Shalev E.
Published: March 2007

A case of combined partial mole and neural tube defect is presented. The detection of high levels of both maternal serum (MS) alpha‐fetoprotein (AFP) and human chorionic gonadotrophin (hCG) during the second trimester led to the ultrasonic demonstration of anencephaly, omphalocele, and partial mole. This is the first report of combined elevation of MSAFP and MShCG.
Chorionic mosaicism: Association with fetal loss but not with adverse perinatal outcome
Authors: Wapner R. J. , Simpson J. L. , Golbus M. S. , Zachary J. M. , Ledbetter D. H. , Desnick R. J. , Fowler S. E. , Jackson L. G. , Lubs H. , Mahony R. J. , Pergament E. , Rhoads G. G. , Shulman J. D. , De La Cruz F.
Published: March 2007

Cytogenetic data from the United States NICHD collaborative study of chorionic villus sampling (CVS) were used to evaluate the clinical significance of chorionic mosaicism. The 10 754 patients with normal cytogenetic results were compared wtih 108 patients (1.0 per cent) with placental mosaicism and 181 patients (1.6 per cent) with pseudomosaicism. Of the pregnancies intended to continue, the pregnancy loss rate was significantly greater in patients with placental mosaicism than in the cytogenetically normal cohort (8.6 vs. 3.4 per cent, p <0.05). However, there was no difference in the frequencies of abruptio placenta, preterm labour or delivery, small‐for‐gestational‐age newborns, pregnancy‐induced hypertension, or neonates with Apgar scores less than 7.
First‐trimester biochemical and molecular diagnoses using chorionic villi: High accuracy in the U.S. collaborative study
Authors: Desnick R. J. , Schuette J. L. , Golbus M. S. , Jackson L. , Lubs H. A. , Ledbetter D. H. , Mahoney M. J. , Pergament E. , Simpson J. L. , Zachary J. M. , Fowler S. E. , Rhoads G. G. , De La Cruz F.
Published: March 2007

The accuracy of biochemical and molecular prenatal diagnoses using chorionic villi as the fetal source was assessed by seven centres participating in the NICHD collaborative study on the safety and accuracy of chorionic villus sampling (CVS) and amniocentesis. Of 601 pregnancies studied, biochemical methods were used to determine the diagnosis in 283 fetuses at risk for 35 different metabolic disorders. Fifteen different lysosomal storage diseases accounted for 81 per cent of the biochemical prenatal diagnoses performed, with 57 per cent of these pregnancies at risk for Tay‐Sachs disease. No errors were made in the biochemical diagnoses that predicted affected or unaffected fetuses. However, the diagnoses of certain disorders (e.g., mucopolysacchariodosis type IH, metachromatic leukodystrophy, and Krabbe disease) occasionally required confirmatory studies in cultured amniocytes because the enzyme results were inconclusive in direct and/or cultured villi or due to the presence of a pseudodeficiency allele. Of these, only the diagnosis of a fetus at risk for Krabbe disease remained inconclusive after special studies to discriminate between mutant and pseudodeficiency alleles. Recombinant DNA techniques were used to predict the diagnosis of 318 fetuses at risk for 16 different disorders in which the defective disease gene could be detected either directly or by linkage analysis to a nearby polymorphic marker. Of these, 32 per cent were for haemoglobinopathies, 25 per cent for cystic fibrosis, 24 per cent for Duchenne or Becker muscular dystrophy, and 7 per cent for haemophilias. Pregnancies at risk for known disorders with specific molecular lesions (e.g., sickle cell disease) were accurately diagnosed in direct and/or cultured villi. Diagnoses requiring analyses with closely linked polymorphic markers were occasionally uninformative or inconclusive. Maternal contamination was not reported in any biochemical or molecular‐based diagnosis. These studies document the high accuracy and rapidity of both biochemical and mutation‐specific prenatal diagnoses with direct and cultured chorionic villi.
Risk factors associated with transcervical CVS losses
Authors: Golbus Mitchell S. , Simpson Joe Leigh , Fowler Sarah E. , de la Cruz Felix , Desnick Robert J. , Wapner Ronald , Ledbetter David H. , Lubs Herbert , Mahoney Maurice J. , Pergament Eugene , Rhoads George G. , Schulman Joseph D. , Zachary Julia
Published: March 2007

Factors found to be associated with pregnancy loss after transcervical CVS were race (higher for non‐white), history of spontaneous abortion, unplanned pregnancy, history of spotting or bleeding during the pregnancy prior to CVS, and placental position (higher for fundal or lateral locations). Whether the increase in loss risk is due to the factor, per se, or the factor plus the CVS cannot be determined due to the lack of appropriate control data.
In situ hybridization studies for the detection of common aneuploidies in CVS
Authors: Zahed L. , Murer‐Orlando M. , Vekemans M.
Published: March 2007

We have attempted to evaluate the efficiency of interphase cytogenetics in the detection of specific aneuploidies in chorionic villus samples. For this purpose, we used alphoid repetitive sequences specific for the chromosomes involved in the common aneuploidies, namely probes for chromosomes 13, 18, 21, X, and Y. These probes were applied to normal and abnormal CVS cases, as well as to a few mosaic cases. Results from these preliminary studies indicate that the technique can be very efficient for the detection of specific aneuploidies and can be particularly useful in the analysis of mosaic cases, which usually requires the screening of high number of metaphases.
First‐trimester maternal serum human chorionic gonadotrophin as a marker for fetal chromosomal disorders
Authors: Van Lith J. M. M. ,   For the Dutch Working Party on Prenatal Diagnosis
Published: March 2007

The Dutch Working Party on Prenatal Diagnosis has initiated a study on the possibilities of first‐trimester screening for fetal chromosomal disorders. We report on maternal serum human chorionic gonadotrophin (MS‐hCG) measurements in 1348 pregnancies with a chromosomally normal fetus and 53 pregnancies with a chromosomally abnormal fetus. The median MS‐hCG concentration in 24 pregnancies with Down's syndrome was 1.19 multiples of the normal median (MoM). The MS‐hCG distributions in normal and Down's syndrome pregnancies did not differ significantly (t‐test: t = 1.945, p >0.05). We also found no difference between normal pregnancies and pregnancies with other chromosomal disorders (six cases of trisomy 18, MoM = 0.80; four cases of sex chromosome abnormality, MoM = 1.01; 17 cases of chromosomal mosaicism in chorionic villi, MoM = 1.11). Selecting an upper limit at the 90th centile could detect 25 per cent of pregnancies with Down's syndrome. We conclude that, in the first trimester, MS‐hCG as a screening factor for Down's syndrome is of minor value. However, MS‐hCG could be a useful factor in a first‐trimester screening programme based on a combination of markers.
Variation in the levels of pregnancy‐ specific β‐1‐glycoprotein in maternal serum from chromosomally abnormal pregnancies
Authors: Graham G. W. , Crossley J. A. , Aitken D. A. , Connor J. M.
Published: March 2007

Human pregnancy‐specific β‐1‐glycoprotein (SP1) was assayed retrospectively in stored maternal serum (MS) samples from 82 chromosomally abnormal pregnancies and 377 matched controls. The median MSSP1 concentration in 48 Down's syndrome pregnancies was significantly elevated at 1.17 multiples of the control median (MOM), and significantly reduced (0.5 MOM) in a group of eight cases of unbalanced translocations. There was no significant difference in median SP1 concentrations in cases of trisomy 18, trisomy 13, balanced translocations, or sex chromosome abnormalities. A comparison with human chorionic gonadotrophin results in the same series of samples indicates that SP1 is a less sensitive predictor of Down's syndrome pregnancies.
Prenatal diagnosis of autosomal dominant polycystic kidney disease using flanking DNA markers and the polymerase chain reaction
Authors: Turco Alberto , Peissel Bernard , Quaia Piero , Morandi Raffaella , Bovicelli Luciano , Pignatti Pier Franco
Published: March 2007

A prenatal diagnosis was carried out on a 9‐week‐old fetus at risk for autosomal dominant polycystic kidney disease (ADPKD). Ten members of the family were previously typed using five DNA markers linked to the PKD1 locus on chromosome 16, and one marker linked to the putative PKD2 locus on chromosome 2. The polymerase chain reaction (PCR) was used to amplify the D16S125 locus. Pairwise and multipoint lod scores indicated that the family was most likely segregating a PKD1 mutation. The fetus inherited the disease haplotype from the affected parent. Diagnostic accuracy was greater than 99 per cent, taking into account the possibility of genetic heterogeneity.
A rare case of a false‐negative finding in both direct and culture of a chorionic villus sample
Authors: Pindar Lesley , Whitehouse Melanie , Ocraft Kevin
Published: March 2007

A discrepancy is reported between the karyotype of both direct and cultured chorionic villus cells (46,XX) and a fetal skin biopsy (47,XX,+18). The significance of this result is discussed and compared with similar discordant findings reported in the literature.
Prenatal sonographic diagnosis of diastematomyelia in a diabetic woman
Authors: Pachí A. , Maggi E. , Giancotti A. , Forleo S. , Torregrossa G. , Roggini M. , Bosman C.
Published: March 2007

Diastematomyelia is a structural anomaly which concerns primarily the spine and secondarily the nervous structures contained in it. A case of early prenatal diagnosis (20th week) by ultrasound of diastematomyelia with associated diplomyelia in a diabetic woman is reported. Radiological and pathological examination of the fetus after therapeutic abortion confirmed the diagnosis.
Ultrasonic diagnosis of mediastinal cystic hygroma
Authors: Zalel Y. , Shalev E. , Ben‐Ami M. , Mogilner G. , Weiner E.
Published: March 2007

The incidence of cystic hygroma, which represents dilated obstructed jugular lymph sacs, is 1 in 6000 pregnancies. Cystic hygromas can be located in the nuchal area or in any other location. The prenatal ultrasonic diagnosis of a cystic hygroma in the mediastinum is presented.
Five years' experience of prenatal diagnosis of cystic fibrosis in the former U.S.S.R.
Authors: Baranov V. S. , Gorbunova V. N. , Ivaschenko T. E. , Shwed N. Yu. , Osinovskaya N. S. , Kascheeva T. K. , Lebedev V. M. , Mikhailov A. V. , Vakharlovsky V. G. , Kuznetzova T. V.
Published: March 2007

From a total of 490 cystic fibrosis (CF) high‐risk families under supervision (mostly Russian Slavs from the European part of the country), DNA data including both direct screening for some CF gene(CFTR)mutations(deIF508, G551D and 1677delTA) and allelic polymorphism studies with tightly CF linked DNA markers were collected from 261 families. All full families (129) and 86 CF families with a deceased index child were found to be either fully (42 per cent) or partially (40 per cent) informative for DNA analysis. Prenatal diagnosis (PD) was carried out in 161 CF families. Microvillar enzyme (MVE) assay was applied to all 140 PD at the second trimester either as a single test (88) or in conjunction with DNA analysis (52). The frequency of false‐negative results of the MVE assay was 1.3 percent and that of false‐positive results, as judged by the albumin meconium test, was 5.0 per cent. Ambiguous results of MVE analysis were found in 30 cases, 12 of which were verified by DNA analysis. Molecular diagnosis of CF at the first trimester was carried out in 21 cases and four pregnancies were terminated. Altogether, 39 pregnancies with a predicted high risk of CF fetuses were terminated. The low average frequency of delF508 in CF chromosomes of Russian Slavs (50 per cent), its remarkable inter‐population variation, and the significant proportion of at‐risk families without an affected child determine the necessity of combined molecular and biochemical (MVE assay) approaches for efficient prenatal diagnosis of CF in the former U.S.S.R.
Transvaginal sonography—detection of findings suggestive of fetal chromosomal anomalies in the first and early second trimesters
Authors: Bronshtein Moshe , Blumenfeld Zeev
Published: March 2007

Over a 4‐year period, 14 dyskaryotic fetuses were diagnosed by amniocentesis, performed after early detection of malformations using transvaginal sonography (TVS). These 14 dyskaryotic fetuses were detected out of 4878 sonographic screenings performed by TVS between 9 and 16 weeks' gestation. Twenty‐eight per cent of the referrals were at high risk and 72 per cent were at low risk for fetal malformations. Two hundred and twenty‐nine fetuses (4.7 per cent) of the screened population had 265 anomalies, 39 per cent of them being transient. In 7 of the 14 dyskaryotic fetuses (50 per cent), the sonographically detected anomalies were transient, being undetected by follow‐up sonographic screenings at later gestational ages (⩾18 weeks). Postponing the first sonographic scan aimed at malformation detection to a later gestational age may lead to transient anomalies and their associated dyskaryosis being missed.
First trimester amniocentesis between the seventh and 13th weeks: Evaluation of the earliest possible genetic diagnosis
Authors: Kennerknecht I. , Baur‐Aubele S. , Grab D. , Terinde R.
Published: March 2007

Amniocentesis performed at the 12th week and later gives reliable results. The procedure can be performed using regimens developed for mid‐trimester amniotic fluid (AF) cells. Extension to the 10th–11th week is, in principle, feasible. However, the high cytogenetic failure rate is a difficulty and despite a high clone count, the culture time is prolonged. The problem of the relatively high loss of AF could be overcome by cell filtration techniques and replacement of the fluid. Because of the short turnover rate of the AF, this may be unnecessary or replacement with an isotonic solution may be sufficient. (Pseudo)mosaicism appears to occur more frequently in early than in late amniocentesis. As yet, data are too sparse to allow a comparison with chorionic villus sampling. There are no reliable follow‐up data from which to estimate the abortion rate and the number of embryonic malformations.
First‐trimester amniotic fluid and extraembryonic coelomic fluid acetylcholinesterase electrophoresis
Authors: Campbell James , Cass Peter , Wathen Neville , Stone Rosana , Wald Nicholas
Published: March 2007

Acetylcholinesterase (AChE) gel electrophoresis was performed on samples of amniotic fluid and extraembryonic coelomic fluid obtained by high resolution transvaginal ultrasound‐guided amniocentesis from 38 women between 8 and 12 weeks of pregnancy. AChE was positive in 33 per cent (12/36) of the amniotic fluid samples; the percentage of positive results decreased as gestation advanced. AChE was positive in 32 per cent (9/28) of the extraembryonic coelomic fluid samples. In 81 per cent (21/26) of matched samples, the AChE results were identical in the two fluids. Amniotic fluid and extraembryonic coelomic fluid AChE electrophoresis cannot be used to diagnose neural tube defects prior to 12 weeks of gestation.
Cytogenetic experience in prenatal fra(X) detection on amniotic fluid cultures
Authors: Devillard F. , Prieur F. , Delhomme‐Bachy M. , De Freminville B. , Lauras B. , Brizard C. P. , Fraisse J. , Bertheas M. F.
Published: March 2007

Since 1987, we have had experience with 13 prenatal diagnoses of 11 women at risk for the fragile X syndrome by cytogenetic studies on amniotic fluid cultures. The induction method included TC 199 medium and methotrexate. Results were obtained in all cases. Ten were males and three were prenatally diagnosed as being affected. Three were females and none of them was fra(X)‐positive. Results were confirmed in 10/13 cases. In these cases, we had neither false‐positive nor false‐negative results.
hCG, AFP, and uE3 patterns in the 14–20th weeks of Down's syndrome pregnancies
Authors: Mancini Giuliana , Perona Marco , Dall'Amico Concetta Daniela , Bollati Carla , Fulvia Albano , Carbonara Angelo Oscar
Published: March 2007

A marked gestational‐age‐dependent variation in the 15‐20th week pattern of human chorionic gonadotropin concentrations in Down's syndrome (DS) pregnancies is described and its weight in DS screening is discussed.
Radiographic, haematological, and biochemical findings in a fetus with Caffey disease
Authors: Lécolier B. , Bercau G. , Gonzalés M. , Afriat R. , Rambaud D. , Mulliez N. , De Kermadec S.
Published: March 2007

An early case of prenatal Caffey disease is reported. Ultrasound examination performed at 20 weeks showed major angulations of long bones, but both ultrasound scan and X‐rays failed to make the differential diagnosis between Caffey disease and lethal osteogenesis imperfecta. A cordocentesis allowed us to find important biological abnormalities. The pregnancy was terminated after the rapid development of hydrops fetalis. The definitive diagnosis of Caffey disease was obtained by special X‐ray and pathological study.
Alpha‐fetoprotein levels and yolk sac size in the first trimester of pregnancy
Authors: Wathen N. C. , Cass P. L. , Campbell D. J. , Wald N. , Chard T.
Published: March 2007

Transvaginal ultrasound measurement of the yolk sac and transvaginal amniocentesis were carried out on 94 women prior to first‐trimester termination of pregnancy. Maternal serum and fluids from the amniotic cavity and extraembryonic coelom were analysed for alpha‐fetoprotein (AFP). No correlation was found between the yolk sac size and the levels of AFP in any of these sites.
The significance of choroid plexus cysts in fetuses at 18–20 weeks. An indication for amniocentesis?
Authors: Howard Richard J. , Tuck Susan M. , Long Joanne , Thomas Valerie A.
Published: March 2007

Over a period of 25 months, all antenatal patients were offered a detailed ultrasound scan at 18–20 weeks' gestation. The lateral cerebral ventricles were scanned for the presence of choroid plexus cysts. Fifty‐one patients found to have choroid plexus cysts were offered amniocentesis to exclude chromosomal abnormalities. One pregnancy, in which the only abnormality found was bilateral choroid plexus cysts, was terminated after trisomy 18 was detected on amniocentesis at 19 weeks. The other 50 pregnancies had normal fetal outcomes. The significance of the isolated finding of choroid plexus cysts is reviewed.
Morphological features of a case of retinoic acid embryopathy
Authors: van Maldergem Lionel , Jauniaux Eric , Gillerot Yves
Published: March 2007

A case of retinoic acid embryopathy which was retrospectively diagnosed after delivery is presented. The affected fetus was exposed to the drug during the first month of pregnancy and second‐trimester sonographic examination showed hydrocephalus and cardiacmalformation. The diagnosis was made on the basis of autopsy findings and genetic enquiry.
Neonatal form of the hyperornithinaemia, hyperammonaemia, and homocitrullinuria (HHH) syndrome and prenatal diagnosis
Authors: Shih Vivian E. , Laframboise Rachel , Mandell Roseann , Pichette Jeanne
Published: March 2007

We describe here the first case of neonatal death due to the hyperornithinaemia, hyperammonaemia, and homocitrullinuria (HHH) syndrome and the first prenatal diagnosis of this disorder in a subsequent pregnancy in this family.
Atelosteogenesis type II: Sonographic and radiological correlation
Authors: Nores Jose A. , Rotmensch Siegfried , Romero Roberto , Avila Cecilia , Inati Mona , Hobbins John C.
Published: March 2007

Atelosteogenesis type II is a lethal chondrodysplasia characterized by severe micromelia, spinal abnormalities, talipes equinovarus, and abducted thumbs and toes. We present a case diagnosed at 21 weeks of gestation in which antenatal sonographic and post‐mortem radiological findings were correlated. The patient had a recurrence of this disorder in a subsequent pregnancy which was terminated at 15 weeks, supporting previous reports of an autosomal recessive inheritance pattern. The feasibility of diagnosing the following morphological features by prenatal ultrasonography is demonstrated: coronal clefts of the vertebral bodies, metaphyseal and epiphyseal abnormalities, spinal deviations such as cervical kyphosis and a horizontal sacrum, additional ossification centres in the pelvis, and preaxial deviation of the thumbs and toes. The differential diagnosis of this disorder from other skeletal dysplasias with similar features is discussed.
Fetal nuchal fluid‐physiological or pathological?—In pregnancies less than 17 menstrual weeks
Authors: Wilson R. D. , Venir N. , Farquharson D. F.
Published: March 2007

For pregnancies less than 17 menstrual weeks, increasing amounts of nuchal fluid increase the risks of chromosome abnormalities with localized nuchal fluid, diffuse nuchal fluid, cystic hygroma, and fetal hydrops having chromosomal risks of 12, 23, 50, and 78 per cent, respectively. The ultrasound appearance of localized or diffuse nuchal fluid is not a specific discriminator, but a fluid depth of greater than or equal to 5 mm may be an indicator of increased risk of fetal chromosomal abnormalities. If the fluid depth is less than 5 mm, there is a stronger negative predictive value and negative likelihood risk of a fetal chromosome abnormality. Gestational age did not improve the fluid depth predictive value. Differentiation of physiological from pathological requires chromosome analysis, serial ultrasound evaluation, and good clinical examination as a newborn and possibly as a young child. Long‐term follow‐up of those cases identified with resolving nuchal fluid abnormalities is not available and is required for a complete understanding of physiological and pathological aetiologies. Genetic counselling for fetal nuchal fluid would be recommended.
Aplasia cutis congenita associated with epidermolysis bullosa and pyloric atresia: The diagnostic role of prenatal ultrasonography
Authors: Achiron R. , Hamiel‐Pinchas O. , Engelberg S. , Barkai G. , Reichman B. , Mashiach S.
Published: March 2007

Aplasia cutis congenita associated with epidermolysis bullosa and pyloric atresia is a rare congenital disease in which localized or widespread areas of skin are absent at birth. Alpha‐ fetoprotein (AFP) and skin biopsy have been used for prenatal diagnosis of this condition. A patient in whom normal levels of amniotic AFP at 16 weeks' gestation presumably excluded the disease and who was at risk for aplasia cutis congenita associated with epidermolysis bullosa and pyloric atresia is described. However, 10 weeks later, ultrasonographic examination revealed hydramnios, a dilated stomach, a deformed external ear, and a contracted fisted hand. All signs were confirmed postnatally. The role of ultrasonography and the value of other diagnostic methods in this congenital disease are discussed.
Second‐trimester maternal serum immunoreactive inhibin as a marker for fetal Down's syndrome
Authors: Van Lith J. M. M. , Pratt J. J. , Beekhuis J. R. , Mantingh A.
Published: March 2007

We measured immunoreactive inhibin in the maternal serum of 80 pregnancies with a chromosomally normal fetus and ten Down's syndrome pregnancies in the second trimester. The inhibin level in all Down's syndrome pregnancies was above the normal median; the multiple of the normal median (MoM) was 1.9. We found a statistically significant difference between the levels of inhibin in unaffected and affected pregnancies (Kolmogorov–Smirnov test: p <0.002). Using an arbitrarily chosen cut‐off of 2.4 MoM, 40 per cent of Down's syndrome and 5 per cent of the normal pregnancies were found. We conclude that immunoreactive inhibin may be useful as a marker for fetal Down's syndrome.
Fumarylacetoacetase activity in cultured and non‐cultured chorionic villus cells, and assay in two high‐risk pregnancies
Authors: McCormack M. J. , Walker E. , Gray R. G. , Newton J. R. , Green A.
Published: March 2007

We describe further development of the fumarylacetoacetase (FAA) assay for the prenatal diagnosis of tyrosinaemia type 1 using chorionic villus sampling (CVS). We have established a reference range for FAA activity in cultured villus cells and have confirmed previously reported data on the FAA activity in uncultured chorionic villus cells. This should allow confirmation of results using CVS, without the need for further invasive procedures. We report the FAA enzyme stability at −70°C, +4°C, and at room temperature, and we have shown no obvious difference in enzyme activity with gestational age. We have analysed cultured and non‐cultured CVS activity of FAA in two pregnancies at risk of tyrosinaemia type 1. In both, the fetus was designated unaffected, and these results were confirmed postnatally.
Transabdominal chorionic villus sampling: Fetal loss rate in relation to maternal and gestational age
Authors: Monni Giovanni , Ibba Rosa M. , Laj Rosalba , Giuseppina Cau , Silvia Mura , Olla Giovanni , Cao Antonio
Published: March 2007

In this paper we report the fetal loss rate in relation to both maternal and gestational age in 1764 pregnant women who underwent transabdominal chorionic villus sampling (TA‐CVS) between January 1986 and August 1990. The fetal loss rate, considered as a proportion of continuing pregnancies, decreased with advancing gestational age at sampling from 4.3 per cent before 9 weeks to 0.4 per cent at or after 13 weeks, the difference being statistically significant (p <0.025). The fetal loss rate increased from 1.6 per cent in women under 30 to 2.4 per cent in women of 40 years or over, but the difference was not statistically significant. Considering that the total fetal loss rate before 28 weeks' gestation was on average 1.91 percent (1.3 per cent under 35 years and 2.8 per cent in women of 35 or over), we believe that TA‐CVS is a safe and effective technique for prenatal diagnosis of genetic diseases.
Effect of introducing prenatal diagnosis on the reproductive behaviour of families at risk for cystic fibrosis. A Cohort study
Authors: Borgo Graziella , Fabiano Teresa , Perobelli Sandra , Mastella Gianni
Published: March 2007

We studied 101 couples to determine how far their reproductive behaviour was affected by the diagnosis of cystic fibrosis (CF) on its first occurrence in the couple's progeny and by the availability of prenatal diagnosis (PD). The couples were all resident in the Veneto and Trentino regions and attending the Verona CF Centre. CF had been diagnosed in the first affected child, during the period 1 January 1980‐1 July 1990, before the age of 1 year.

Couples received a questionnaire regarding socio‐demographic status, reproduction data, and awareness of PD. Reproductive history was divided into three phases: prior to diagnosis of CF in the first affected child; from this time until PD was made available; and after the couples had learned of PD. In phase 2 (awareness of the genetic risk but not of PD), 54 couples showed a marked decrease in reproduction, none of the few pregnancies that occurred being taken to term. When couples became aware of PD, some resumption of reproductive activity occurred and 11 per cent of the 101 couples had another child; PD was used in 65 per cent of pregnancies and the abortion rate decreased to 35 per cent. All couples who opted for PD had no children without CF.
Anencephaly in a fetus with osteogenesis imperfecta: Early diagnosis by transvaginal sonography
Authors: Bronshtein Moshe , Weiner Zeev
Published: March 2007

Early prenatal diagnosis of osteogenesis imperfecta at 14 weeks' gestation by transvaginal sonography is reported. An anencephalic fetus was found at autopsy, although on sonographic examination complete brain tissue had been observed. A possible explanation for these findings and theories on the pathogenesis of anencephaly are discussed.
Prenatal analyses in a pregnancy at risk for β‐mannosidosis
Authors: Kleijer W. J. , Geilen G. C. , Van Diggelen O. P. , Wevers R. A. , Los F. J.
Published: March 2007

Prenatal analyses were performed in the pregnancy of the mother of a patient with β‐mannosidase deficiency. Partial deficiency of β‐mannosidase activity in the chorionic villi indicated a heterozygous fetus and this first‐trimester diagnosis was subsequently confirmed by amniocentesis.
Appearance of excessive lipids in amniotic fluid as a sign of fetal hyperlipidaemia
Authors: Lurie S. , Hagay Z.
Published: March 2007

The appearance of excessive lipids in amniotic fluid during Caesarean section raised the suspicion of a hyperlipidaemic fetus. The amniotic fluid had elevated cholesterol (53 mg/dl) and triglycerides (81 mg/dl). At the age of 2 months, the infant was hyperlipidaemic (cholesterol of 161 mg/dl and triglycerides of 84 mg/dl). The case suggests the possibility of prenatal diagnosis of hyperlipidaemia, a major risk factor for atherosclerosis.
Prenatal exclusion of haemophilia a and carrier testing by direct detection of a disease lesion
Authors: Schwartz Marianne , Cooper David N. , Millart David S. , Kakkar Vijay V. , Scheibel Elma
Published: March 2007

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

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

We report the first prenatal diagnosis of an affected fetus with Chediak‐Higashi syndrome (CHS). Diagnosis was accomplished via fetal blood sampling at 17 menstrual weeks and was confirmed after birth. Retrospective measurement of the largest acid phosphatase‐positive lysosomes in cultured amniotic fluid cells and chorionic villus cells showed that in CHS these lysosomes are significantly larger than those in normal cells. This method may be used for prenatal diagnosis of CHS by amniocentesis and chorionic villus sampling (CVS).