bluuebunny/crossref_metadata_2025 huggingface dataset:
Comparison of maternal and fetal chromosome heteromorphisms to monitor maternal cell contamination in chorionic villus samples
Authors: Olson Susan , Buckmaster John , Bissonnette John , Magenis Ellen
Published: March 2007

Maternal cell contamination (MCC) presents a potential problem in the analysis of chorionic villus sampling (CVS) preparations for early prenatal diagnosis by chromosomal, biochemical and molecular methods. Through the comparison of fluorescent chromosome variants from CVS and maternal cells, we found three out of 50 samples to have MCC. One of these was observed on a direct preparation. Routine chromosome heteromorphism analysis suggested as a reliable method for monitoring MCC in CVS specimens.
The concurrence of fetal supraventricular tachycardia and obstruction of the foramen ovale
Authors: Buis‐Liem T. N. , Ottenkamp J. , Meerman R. H. , Verwey R.
Published: March 2007

Fetal supraventricular tachycardia (FSVT) is a cardiac arrhythmia that bears a high mortality rate. In the majority of cases no morphological anomalies are found and death is caused by congestive heart failure. This report presents two cases of FSVT in which cross sectional echocardiography revealed obstruction of the foramen ovale with dilatation of the right heart without structural cardiac anomalies. After birth sinus rhythm re‐established under digitalis medication in both cases. The association between premature obstruction of the foramen ovale and unexplained intrauterine death in the third trimester of gestation is suggested.
Neonatal lung function following mid‐trimester amniocentesis
Authors: Hunter A. G. W.
Published: March 2007

Three hundred and fifty‐four women who underwent midtrimester genetic amniocentesis were matched for age, parity, indication, and smoking history, with an equivalent number of women who had declined the procedure, for the purpose of comparing the neonatal respiratory status of their offspring. There was no evidence that the infants exposed to genetic amniocentesis were compromised.
Psychological impact of amniocentesis on low‐risk women
Authors: Tabor Ann , Jønsson Majken Holm
Published: March 2007

The study comprised 85 young (25–34 years old) women who underwent genetic amniocentesis, 80 comparable young women who had an ultrasoundscan at the same gestational age and 74 women (35–40 years old) who had amniocentesis. The State‐Trait Anxiety Inventory and Visual Analogue Scales concerning anxiety and worry were used on four occasions to evaluate psychological changes during pregnancy.

The anxiety level in the younger women decreased after amniocentesis and a further decrease was observed after the results were communicated to them. However, similar changes were seen in the group of younger women after ultrasonography, and there was no difference in anxiety level between the two groups of younger women in the 16th or in the 35th week of pregnancy. Thus, in younger women at low genetic risk amniocentesis was neither anxiety‐relieving, nor anxiety‐creating.

The level of anxiety before amniocentesis was not higher in the older than in the younger women having amniocentesis. However, in the younger women a significant decrease in anxiety was seen as soon as amniocentesis had been performed, while in the older women this decrease was delayed until after the results were known.
Chromosomal mosaicism confined to chorionic tissue
Authors: Schulze B. , Schlesinger Ch. , Miller K.
Published: March 2007

Chorionic villus samples from two healthy pregnant females were obtained for first trimester fetal diagnosis. The karyotypes were 46, XX/47, XX, +3 and 46, XX/47, XX, +15, respectively. In both cases fibroblast cultures after termination of pregnancy were shown to have normal karyotypes.
Pierre robin sequence associated with amniotic band syndrome ultrasonographic diagnosis and pathogenesis
Authors: Malinger G. , Rosen N. , Achiron R. , Zakut H.
Published: March 2007

A case of prenatal diagnosis of the Pierre Robin sequence is reported in which hydramnios and amniotic bands are present. The possible pathogenesis is discussed.
Prenatal diagnosis of hereditary elliptocytosis with molecular defect of spectrin
Authors: Dhermy D. , Feo C. , Garbarz M. , Lecomte M. C. , Bournier O. , Chaveroche I. , Gautero H. , Boivin P. , Daffos F. , Forestier F.
Published: March 2007

Hereditary elliptocytosis (HE) is, in the heterozygous state, a common mild congenital hemolytic disease. In contrast, homozygous elliptocytosis is a severe transfusion‐dependent hemolytic anemia. The major determinant of red cell membrane shape and stability is a two‐dimensional proteinaceous meshwork named membrane skeleton. Spectrin, the most important protein of the membrane skeleton, is basically a heterodimer composed of alpha and beta chains. Within the membrane, spectrin dimers self‐associate to form tetramers. In type I HE spectrin dimer self‐association is defective and an excess of spectrin dimer is present in the patient's red cell membranes. The defective self‐association is often correlated with an abnormality of the spectrin alpha chain which is depicted by limited tryptic digest of spectrin. In a family previously studied by us (Dhermy et al., 1984), the search for a spectrin defect in the red cells of the fetus of the pregnant mother was indicated for the following reasons: the diagnosis of heterozygous type I HE with the same spectrin variant had been made in the mother as well as in the father. Moreover, homozygous HE had been recognized in one of the children born two years previously with a persistent and severe transfusion dependent hemolytic anemia. Preliminary studies of normal fetal erythrocytes at twenty weeks gestation have shown that fetal and adult spectrin molecules are identical. The results obtained in the fetus at risk allowed us to diagnose type I HE (though elliptocytes were not present in the blood) for the following reasons: (i) erythrocyte deformability was decreased (ii) spectrin self‐association was defective with an excess of dimer species in the membrane (iii) limited tryptic digest of spectrin showed the same abnormal pattern as seen in the heterozygous mother, with a decrease in the 80,000‐dalton peptide and a concomitant increase in the 74,000‐dalton peptide. The heterozygous state, strongly suspected on the tryptic digest pattern of fetal spectrin, was confirmed when the mother gave birth to a baby who did not have hemolytic anemia during the first 18 months of life.
Deceased co‐twin as a cause of false positive amniotic fluid AFP and AChE
Authors: Winsor Elizabeth J. T. , Brown B. St. John , Luther Edwin R. , Heifetz Stephen A. , Welch J. Philip
Published: March 2007

A pregnancy was terminated because of persistently elevated amniotic fluid AFP (+10 S.D.) and an AChE band of low intensity on gel electrophoresis. No fetal anomalies were detected by ultrasonographic examination. Autopsy revealed an apparently normal fetus of about 20 weeks gestation. Attached to the placenta was a small sac containing a fetus papyraceus co‐twin of about 8–9 weeks gestation. The small deceased co‐twin and its gestational sac were not detected prenatally despite multiple ultrasonographic examinations. The difficulty in the interpretation of apparently conflicting results is emphasized.
Umbilical and uterine flow velocity waveforms in pregnancies complicated by major fetal anomalies
Authors: Meizner Israel , Katz Miriam , Lunenfeld Eitan , Insler Vaclav
Published: March 2007

A continuous wave Doppler unit was used to obtain umbilical and uterine artery flow velocity waveforms in pregnancies complicated by a major fetal abnormality. A total of 139 examinations were performed on 32 women between 26 to 41 weeks' gestation, and the records were reviewed to determine the changes associated with fetal malformation. The systolic/diastolic (A/B) ratio was used as an index of blood flow resistance in the umbilical artery and the systolic minus diastolic divided by systolic (A–B)/A for the branches of the uterine artery.

Seventeen out of 32 patients showed high systolic/diastolic ratio in waveforms taken from the umbilical artery. In 30 out of 32 patients the uterine artery waveform was normal (in two patients the results were equivocal).

It appears that a fetal mechanism may determine the changes in the umbilical placental circulation resulting in an umbilical artery pattern of high flow resistance in more than half of the patients with congenital anomalies.
Experience with first trimester prenatal diagnosis of Menkes disease
Authors: Tønnesen T. , Horn N. , Søndergaard F. , Jensen O. A. , Gerdes A.‐M. , Girard S. , Damsgaard E.
Published: March 2007

We have performed 28 first trimester diagnoses for Menkes disease in 27 high risk pregnancies by direct copper measurement on chorionic villi (c.v.) Two male fetuses were found to be affected because of significantly increased copper content. In one male fetus a slightly increased copper content was observed indicating an exogenous copper contamination of the sample. This view was supported by normal results observed after abortion. Three out of 15 diagnostic c.v. samples with a female karyotype showed increased copper levels. In two of these cases, part of the copper content might have been released from the cannulae used for these particular biopsies.

Histochemical visualization of copper accumulation in fixed chorionic villi of two affected fetuses and one female fetus was observed.

[64Cu]‐uptake studies have been performed on 11 diagnostic and 10 control c.v. samples. As the control samples in some cases were found to incorporate more [64Cu] than the corresponding diagnostic sample, this method cannot at present be used for diagnosis.

Compiled results on newborn females gave evidence that two carriers expressed the paternal X‐chromosome, and two carriers expressed the maternal X‐chromosome in chorionic villi.
Trisomy 18 and maternal serum and amniotic fluid alpha‐fetoprotein
Authors: Lindenbaum R. H. , Ryynänen M. , Holmes‐Siedle M. , Puhakainen E. , Jonasson J. , Keenan J.
Published: March 2007

Maternal serum and amniotic fluid alpha‐fetoprotein levels were studied retrospectively in a total of 58 pregnancies with trisomy 18. In those pregnancies uncomplicated by either fetal exomphalos or neural tube defect the midtrimester maternal serum alpha‐fetoprotein (MSAFP) levels were markedly reduced, the median value for 38 such pregnancies being 0.6 multiples of the median (MoM).

Trisomy 18 with exomphalos was associated with a higher median MSAFP, but still within the normal range: 1.1 MoM, (nine pregnancies); trisomy 18 with exomphalos and neural tube defect (NTD) was associated with grossly raised levels: median MSAFP was 4‐5 MoM (three pregnancies).

Amniotic fluid alpha‐fetoprotein (AFAFP) levels were normal in uncomplicated trisomy 18 pregnancies: median AFAFP, for 19 pregnancies, was 1.1 MoM. Exomphalos alone, or together with neural tube defect, was associated with greatly elevated levels of AFAFP; for exomphalos alone median AFAFP was 9.59 MoM (four pregnancies), and for exomphalos with neural tube defect the median AFAFP was 23.95 Mom (three pregnancies).

Screening with low and high MSAFP, routine ultrasound, and amniocentesis on all women aged 35 years or over, together might identify over 50 per cent of pregnancies with trisomy 18.
Prenatal diagnosis of 45,X/46,XY mosaicism in a fetus with asymmetric gonadal dysgenesis
Authors: Kirkilionis A. J. , Rodney P. , Sergovich F. R. , Armstrong R.
Published: March 2007

An 18 week abortus had been prenatally diagnosed as a 45,X/46,XY mosaic. The fetus was a phenotypic male with glandular hypospadias, a horseshoe kidney and asymmetric gonadal dysgenesis. This case represents a rare instance of prenatally diagnosed 45,X/46,XY mosaicism with an abnormal phenotype.
Light microscopic visualization of peroxisomes and plasmalogens in first trimester chorionic villi
Authors: Roels F. , Verdonck V. , Pauwels M. , de Catte L. , Lissens W. , Liebaers I. , Elleder M.
Published: March 2007

Peroxisomes and their metabolites the plasmalogens were visualized in chorionic villi by quick and simple procedures. Villi were stained and mounted in toto, and can also be embedded. These methods may contribute to early prenatal diagnosis of peroxisomal disorders (Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum's disease a.o.).
Chorionic villus sampling and acceptance rate of prenatal diagnosis
Authors: Cao A. , Cossu P. , Monni G. , Rosatelli M. C.
Published: March 2007

In this paper, we compared the acceptance rate of fetal diagnosis for β‐thalassemia in three group of couples of Sardinian descent; the first counselled before DNA analysis was available, the second presenting after DNA analysis was introduced but too late for chorionic villus sampling and thus monitored by amniocyte DNA analysis and the third presenting within the first trimester after DNA analysis was introduced and thus in time for trophoblast DNA analysis. A higher proportion of couples from the latter group opted for fetal testing as compared to the 1st and 2nd group. These results indicate that in this population, introduction of 1st trimester diagnosis made prenatal testing acceptable to practically all counselled couples at risk.
The association of congenital skin disorders with acetylcholinesterase in amniotic fluid
Authors: Bick D. P. , Balkite E. A. , Baumgarten A. , Hobbins J. C. , Mahoney M. J.
Published: March 2007

We describe a fetus with epidermolysis bullosa dystrophica and a fetus with aplasia cutis congenita who were normal by careful ultrasound examination but whose midtrimester amniotic fluids exhibited elevated concentrations of alpha‐fetoprotein and presence of acetyl‐cholinesterase. These cases show that serious fetal skin pathology can be a source of amniotic fluid acetylcholinesterase and elevated alpha‐fetoprotein concentration and should be considered as part of the differential diagnosis of these amniotic fluid findings.
Bilateral renal agenesis in three consecutive siblings
Authors: Morse Richard P. , Rawnsley Eileen , Crowe Harte C. , Marinpadilla Miguel , Graham John M.
Published: March 2007

We report here an unusual recurrence of bilateral renal agenesis (BRA) in three consecutive siblings. Chromosome analysis was normal, as were renal ultrasound studies on both parents and their surviving child. Ultrasound was employed prenatally to diagnose Potter's syndrome in both of the recurrences, and autopsy confirmed BRA in otherwise normal fetuses. Recurrence of BRA points to the usefulness of ultrasound in monitoring subsequent pregnancies in couples who have had one such occurrence. Ultrasound studies should also be performed in non‐affected family members to detect the presence of asymptomatic anomalies of the genitourinary system, but a negative family study does not preclude recurrence of BRA.
Normal development in two six‐year‐old boys born after prenatal diagnosis of trisomy 20 mosaicism
Authors: Tolmie J. L. , Ferguson‐Smith M. E. , Gilmore D. , Ferguson‐Smith M. A.
Published: March 2007

Prenatal diagnosis of trisomy 20 mosaicism was made in two pregnancies by chromosome analysis of cultured amniotic fluid cells. In both cases, the pregnancy continued to term and a healthy male infant was delivered. Regular assessments up to the age of 6‐5 years revealed normal physical and intellectual development in both children.
First‐trimester prenatal diagnosis of Sanfilippo C disease
Authors: di Natale P. , Pannone N. , D'Argenio G. , Gattit R. , Ricci R. , Lombardo C.
Published: March 2007

At 10 weeks' gestation, chorionic villus biopsy was obtained from a woman at risk for Sanfilippo type C disease. Acetyl‐CoA: α‐glucosaminide N‐acetyltransferase activity was markedly deficient. The pregnancy was terminated at 12 weeks' gestation and follow‐up study on fetal fibroblasts confirmed the diagnosis.
Can fetal gastroschisis always be diagnosed prenatally?
Authors: Knott P. D. , Colley N. V.
Published: March 2007

Fetal gastroschisis is regarded as a relatively straightforward ultrasound diagnosis. We report two cases of infants born with undiagnosed gastroschisis despite several detailed prenatal assessments following raised serum alphafetoprotein measurements. In both cases, the bowel was healthy with no evidence of long‐term herniation through the abdominal wall and primary surgical correction was successful. Gastroschisis has previously been classified as ‘antenatal’ and ‘perinatal’, and we conclude that the latter type is not always possible to diagnose prenatally.
Longitudinal assessment of blood flow velocity waveforms in the healthy human fetus
Authors: Arduini D. , Rizzo G. , Mancuso S. , Romanini C.
Published: March 2007

A longitudinal study was carried out on 30 healthy fetuses in order to assess the modifications of fetal blood flow throughout pregnancy. The pulsatility index was evaluated at two‐week intervals by means of pulsed Doppler equipment. In the umbilical artery measurements were performed from 20 weeks onwards, whereas in the descending aorta and internal carotid artery analysis started from 26 weeks onwards. A decrease of the pulsatility index in umbilical artery and in the ratio between the pulsatility indexes in umbilical artery and internal carotid artery was found over the second half of pregnancy.
Vaginal bleeding in pregnancies associated with fetal Down syndrome
Authors: Cuckle H. S. , Wald N. J.
Published: March 2007

It has been suggested that vaginal bleeding in pregnancy is associated with an increased risk of fetal Down syndrome. To investigate this, information on vaginal bleeding, collected at the first antenatal visit, was abstracted from the medical notes of 70 pregnancies associated with Down syndrome and 140 unaffected controls matched for maternal age. Fourteen cases (20 per cent) and 23 controls (16 per cent) had some evidence of bleeding (relative risk estimated as the odds ratio= 1.3; P=0.26, one‐sided; 95 per cent confidence interval 0.6–2.8). When these results were pooled with those from the two other controlled studies already published the combined relative risk estimate was 1.8 (P=0.02, two‐sided; 95 per cent confidence interval 1.1–3.0). On the basis of present evidence, there is some reason to regard vaginal bleeding prior to the first antenatal visit as a risk factor for Down syndrome but the association and its biological significance remains uncertain.
Ontogeny of fetal liver glucose‐6‐phosphatase activity
Authors: Simpson Thomas J. , Koresawa Mitsuhiko , Hogge W. Allen , Holzgreve Wolfgang , Golbus Mitchell S.
Published: March 2007

A reliable and sensitive microassay for the measurement of liver glucose‐6‐phosphatase is described. Human fetal liver was assayed for glucose‐6‐phosphatase activity from 7.5 to 24 weeks of gestation and was found to have a mean activity of 2.11 nmol per min per mg of protein. This was approximately 30 per cent of the postnatal controls assayed by the same method, but there was no evidence of a change in activity during the gestational period examined. If fetal liver tissue can be reliably obtained, it may be possible to determine a deficiency of glucose‐6‐phosphatase in fetuses who are at risk.
Prenatal diagnosis of neural tube by measurement of serum alpha‐fetoprotein defects in havana city
Authors: Rodriguez P. L. , Heredero B. , Oliva R. J. , Zaldivar G. O.
Published: March 2007

Prenatal screening was carried out in Havana City, Cuba, as part of a National Medical Genetics Programme, in order to detect elevated alpha‐fetoprotein concentration in maternal serum (MS‐AFP). A total of 97 900 pregnant women between 15 and 19 weeks of pregnancy were tested from 1982 to 1985.

A double‐antibody‐sandwich technique was used.

173 malformed fetuses were detected. Confirmation was by ultrasonography, elevated AFP values in a second serum sample and in amniotic fluid and acetylcholinesterase. No termination of a normal pregnancy occurred. The screening of all pregnancies is easy, economical and useful for detecting not only fetuses suffering from open Neural Tube Defects (NTDs) and other severe disorders but also pregnancies at risk of further complications.
Prenatal ultrasound diagnosis of fetal scoliosis with termination of the pregnancy: Case report
Authors: Henry R. J. W. , Norton S.
Published: March 2007

Gross scoliosis of the fetal thoracic spine was diagnosed at 18 weeks gestation. The pregnancy was terminated and the fetus found to have webbing of the neck and an imperforate anus in addition to vertebral defects.
Prenatal diagnosis of del(11)(p13p15)
Authors: Stern Robert J. , Hunter William S. , Moross Tessa , Gardner H. Allen
Published: March 2007

Prenatal diagnosis of del(11)(p13p15) was made on cultured amniotic fluid cells and confirmed on fetal skin fibroblasts after termination of pregnancy. Both irides appeared behind schedule in development by 2–3 weeks in reference to the gestational age of the fetus. It is suggested that the aniridia of the aniridia‐Wilms tumour association is due to developmental arrest. Confirmation of this complex is difficult at mid‐gestation without critical pathological study of the eyes.
Transabdominal chorionic villus sampling for fetal genetic diagnosis. Technical and obstetrical evaluation of 100 cases
Authors: Smidt‐Jensen Steen , Hahnemann Niels
Published: March 2007

First trimester fetal diagnosis was established in 100 pregnancies at risk by transabdominal chorionic villus sampling (TA‐CVS). Forty‐eight per cent of the women were 35 years or more at the time of sampling. Using the double needle technique, both the aspiration and the diagnostic success rate were 100 per cent. The mean amount of villi aspirated was 28·2 mg (10–50 mg). The mean needle time was 3 min. Vaginal spotting appeared in 2 per cent of the women. Four women had therapeutic abortion due to abnormal findings and one for social reasons. Three fetuses with normal karyotypes were lost. Excluding the therapeutic abortions, the fetal loss rate was 3±2 per cent. The fetal loss rate in the amniocentesis control group (n = 200) was 3±6 per cent. The cytogenetic diagnosis was carried out by the direct preparation technique as well as by chorion villus cultivation. All karyotypes were confirmed by lymphocyte cultures from umbilical cord blood or heel blood from the newborn or from aborted fetal tissue. Transabdominal CVS is deemed a safe and easy tool for achieving chorionic villi in the first trimester.
Prenatal cytogenetic diagnosis after transabdominal chorionic villus sampling in the first trimester
Authors: Therkelsen A. J. , Jensen P. K. A. , Hertz J. M. , Smidt‐Jensen S. , Hahnemann N.
Published: March 2007

First trimester prenatal cytogenetic diagnosis was attempted in 350 pregnancies after trans‐abdominal chorionic villus sampling. The cytogenetic investigation was performed using both a short‐term method (24 h incubation) and cell culture. Adequate samples were obtained in 99·1 per cent and in all these cases the fetal karyotype was established. A chromosome abnormality was found in 2·0 per cent of cases. A discrepancy between the karyotype obtained after 24 h incubation and the karyotype in cell culture was observed in 2·3 per cent. Maternal cell contamination in the cultures was confirmed in 13 of 181 cases where the 24 h incubation revealed a male karyotype. Studies of culture morphology showed that colonies of convoluted cells may serve as a marker for contamination with maternal cells in culture. For the present, we recommend using a short‐term method as well as cell culture for cytogenetic investigation until the problems with karyotype discrepancy and maternal cell contamination have been further clarified.
Artificial instillation of amniotic fluid as a new technique for the diagnostic evaluation of cases of oligohydramnios
Authors: Gembruch U. , Hansmann M.
Published: March 2007

In cases of severe oligohydramnios, sonographic diagnosis is hampered by poor visibility and by increased fetal flexion. Therefore, 74 artificial instillations of amniotic fluid were performed in 50 pregnancies by sonographic guidance. Fetal diseases included Potter's syndrome, obstructive uropathy, cystic kidneys (20 cases); Meckel's syndrome, C. de Lange syndrome, cytomegaly fetopathy (1 case each); VATER association (2 cases); triploidy (5 cases); severe intrauterine growth retardation (8 cases); and premature rupture of membranes (12 cases).

By improved sonographic visibility and the observation of fetal behaviour (drinking, filling of stomach and bladder, voiding of bladder after artificial instillation of amniotic fluid), the fetal anatomy could be studied more accurately, malformations could be identified or excluded, and bladder function could be examined. Thus, differentiation between fetuses without functioning kidneys and those with severe intrauterine growth retardation becomes possible. Further, re‐aspiration on the day following instillation permitted determination of the karyotype. Finally, the artificial instillation of amniotic fluid is a hazardous intervention (rupture of membranes, labour) and should be reserved only for a small number of selected cases with diagnostically unclear oligohydramnios. For these cases, it seems to be the method of choice permitting a variety of diagnostic information to be obtained.
First trimester prenatal diagnosis of Sanfilippo disease (MPSIII) type B
Authors: Minelli Antonella , Danesino C. , Lo Curto F. , Tenti Patrizia , Zampatti Clementina , Simoni G. , Rossella Franca , Fois A.
Published: March 2007

Two pregnancies of a family at risk for Sanfilippo disease type B were monitored in the first trimester. In one case an affected fetus was diagnosed on chorionic villi by the assay of N‐acetyl‐a‐D‐glucosaminidase and confirmed on cultured fibroblasts from the aborted fetus. Pathological findings are also reported and compared with changes observed later in life. The disease was excluded in the second pregnancy.
Fetal bradyarrhythmia: Diagnosis and outcome
Authors: Wladimiroff J. W. , Stewart P. A. , Tonge H. M.
Published: March 2007

Seventeen patients were referred to our ultrasound unit because of fetal bradyarrhythmia (<100 bpm). Duration of pregnancy varied between 21 and 40 weeks. Bradyarrhythmia was diagnosed as atrioventricular block (n = 12), mild sinus bradycardia (n = 3), and irregular bradycardia (n = 2). The association with maternal collagen disease was 29 per cent and with cardiac structural defects 59 per cent. The overall mortality was 41 per cent. There were three abnormal karyotypes (17 per cent) and four cases of cardiac compromise (23 per cent).

Prognosis depends on the nature of the bradyarrhythmia and recognition of associated pathology such as cardiac structural defects, abnormal karyotype and degree of cardiac compromise.
Prenatal diagnosis of Hunter syndrome using fetal plasma
Authors: Lissens W. , Van Lierde M. , Decaluwe J. , Foulon W. , Evrard P. , van Hoof F. , Freund M. , Liebaers I.
Published: March 2007

The X‐linked Hunter syndrome or mucopolysaccharidosis II was diagnosed in a male fetus by demonstrating a severe deficiency of iduronate 2‐sulphate sulphatase activity in fetal plasma obtained by umbilical fetal blood sampling at 23 weeks of pregnancy. The diagnosis was confirmed after termination of pregnancy.
The use of gamma glutamyl transferase activity in amniotic fluid in the detection of fetal trisomy 21
Authors: Jones S. R. , Evans S. E.
Published: March 2007

The value of using gamma glutamyl transferase (GT) to select amniotic fluids for karyotyping from patients at low risk of chromosome defects is assessed. This paper reports on 16 pregnancies with fetal trisomy 21 and compares these to two previous reports of GT in fetal trisomy 21. The value of GT is contrasted to the value of AFP in selecting liquors for karyotyping.
Prenatal diagnosis in a female carrying a deletion close to the duchenne locus
Authors: Børresen A. L. , Boman H. , Møller P. , Berg K.
Published: March 2007

Family studies including the proband are usually needed before a prenatal diagnosis may be performed for Duchenne muscular dystrophy. We report here on prenatal diagnosis in a family where the solitary index case was dead, and where the consultand and her mother were assumed to be carriers by independent evidence. DNA anaylsis revealed that both the consultand and her mother had an X chromosome deleted for DNA material in the Xp21 region. The female fetus also carried the deleted X chromosome.
Accuracy of ultrasound diagnoses in pregnancies complicated by suspected fetal anomalies
Authors: Manchester David K. , Pretorius Dolores H. , Avery Carol , Manco‐Johnson Michael L. , Wiggins James , Meier Paul R. , Clewell William H.
Published: March 2007

Referral of pregnancies complicated by suspected fetal anomalies to level III perinatal centres for further evaluation and management is increasing as use of real‐time ultrasound spreads, but the sensitivity and specificity of the prenatal diagnoses made in this population are unknown. We undertook a prospective study that followed pregnancies referred to a designated programme dealing with suspected fetal abnormalities. Follow‐up of 257 pregnancies revealed that 282 separate anomalies were accurately diagnosed in 212 cases. Normal anatomy was correctly predicted in 42 cases, 16 per cent of the referred population. False‐positive and false‐negative rates were 1·5 per cent (4/257) and 2 per cent (1/46), respectively. However, 37 per cent of those infants born with anomalies had additional problems not prenatally detected by ultrasound. These results indicate that prenatal ultrasound diagnoses are remarkably accurate overall but that they may be insensitive to associated anomalies in individual cases.
Prenatal diagnosis of propionic acidemia in chorionic villi by direct assay of propionyl CoA carboxylase
Authors: Chadefaux B. , Augereau C. , Rabier D. , Rocchiccioli F. , Boué J. , Oury J. F. , Kamoun P.
Published: March 2007

Prenatal diagnosis of propionic acidemia was achieved by the direct assay of propionyl CoA carboxylase in chorionic villi. The diagnosis was confirmed by determination of methylcitrate in amniotic fluid and measurement of propionyl CoA carboxylase in the liver from the abortion. Discrepancy between [14C]‐propionate incorporation into protein of chorionic villi or cultured chorionic cells and propionyl CoA carboxylase activity is reported.
Prenatal ultrasound diagnosis of the Holt‐Oram syndrome
Authors: Brons J. T. J. , Van Geijn H. P. , Wladimiroff J. W. , van der Harten J. J. , Kwee M. L. , Sobotka‐Plojhar M. , Arts N. F. Th.
Published: March 2007

The Holt‐Oram syndrome is an autosomal dominant disorder consisting of a congenital heart defect in combination with characteristic upper limb abnormalities. This report presents the ultrasonographic follow‐up of two fetuses at risk for the Holt‐Oram syndrome. In the first fetus, the existence of Holt‐Oram syndrome was suspected at 22 weeks of gestation; a ventricular septal defect, an atrial septal defect, and a minor skeletal defect were found. In the second fetus, no structural abnormalities were discovered until the 30th week, when a small atrial septal defect was detected. In both pregnancies, it was possible to exclude early in gestation the more severe forms of the Holt‐Oram syndrome.
Microvillar enzyme assays in amniotic fluid and fetal tissues at different stages of development
Authors: Muller F. , Oury J. F. , Dumez Y. , Boué J. , Boué A.
Published: March 2007

A systematic study of microvillar enzyme activities in the amniotic fluid in correlation with their values in different fetal tissues during development has been undertaken. Microvillar enzymes appeared in the amniotic fluid at the time of disappearance of the anal membrane, 12–13 weeks, and declined from the 18th week until the 24th week. The study of fetal tissues and fluids has shown that gamma‐glutamyltranspeptidase is mainly of liver origin. The significant decrease of the activities of these amniotic fluid enzymes has been the basis of prenatal diagnosis of cystic fibrosis. These assays may be useful for the diagnosis of certain digestive tract abnormalities at later stages of pregnancy.
First trimester prenatal diagnosis of Sandhoff's disease
Authors: Giles L. , Cooper A. , Fowler B. , Sardharwalla I. B. , Donnai P.
Published: March 2007

Chorionic villus sampling was performed on two patients with a previous family history of Sandhoff's disease. Total β‐hexosaminidase (Hex) activity in case 1 was within the normal range (case 1: 6365 μmol/h/g protein; control range: 3227‐24 495/miol/h/g protein). The β‐hexosaminidase isoenzyme pattern was found to be normal. These results were confirmed on cultured amniotic fluid cells. In case 2, the total Hex activity was 672 μmol/h/g protein, i.e., 7 per cent of the control mean (10 085 μmol/h/g protein), and chromatography demonstrated that more than 50 per cent of this activity was due to the abnormal isoenzyme β‐hexosaminidase S (Hex S). The fetus was predicted to be affected by Sandhoff's disease and this was confirmed on fetal tissues after termination of pregnancy. This study demonstrates that a fetus affected by Sandhof's disease can be reliably diagnosed during the first trimester of pregnancy.
Autosomal recessive polycystic kidney disease. Problems of prenatal diagnosis
Authors: Zerres K. , Hansmann M. , Mallmann R. , Gembruch U.
Published: March 2007

Autosomal recessive polycystic kidney disease (ARPKD) is characterized by different proportions of cystic dilated collecting ducts invariably associated with congenital hepatic fibrosis. Because of the nearly regular arrangement of nephrons and collecting ducts, disturbances have been postulated to act rather late on embryological grounds. Prenatal diagnoses seem to confirm this observation, as can be demonstrated in our cases and those reported in the literature. Increased echogenicity and renal enlargement are the main ultrasonographic signs of ARPKD; oligohydramnios is characteristic but not always present. Repeated sono‐graphic measurements of the kidney length seem to be the most useful parameter. As differential diagnoses, autosomal dominant polycystic kidney disease as well as Meckel syndrome have to be taken into consideration. The prognosis of cases with oligohydramnios is usually poor. In genetic counselling, the possibility of prenatal diagnosis in the second trimester of pregnancy should be given with caution.
Prenatal diagnosis of thalassemia: The viewpoint of patients
Authors: Schilirò Gino , Romeo Maria Antonietta , Mollica Florindo
Published: March 2007

Twenty‐eight young people with thalassemia major expressed their opinion about prenatal diagnosis. All of them stated that they intended to marry and have children; thirteen of them (46 per cent) said that they would have also accepted a thalassemic carrier as a partner and that if married to a carrier they would have undergone prenatal diagnosis and selective abortion. All but one refused the prospect of an affected child. When asked if they would have preferred that before their birth their parents had undergone prenatal diagnosis and abortion, 19 patients (68 per cent) gave an affirmative answer.

These results clearly indicate that even people affected by thalassemia major, who are the potential victims of prenatal diagnosis and selective abortion, largely accept prenatal diagnosis as a means of preventing their disease.
Decision making during the prenatal diagnostic procedure. A questionnaire and interview study of 211 women participating in prenatal diagnosis
Authors: Sjögren Berit , Uddenberg Nils
Published: March 2007

Counselling in connection with prenatal diagnosis (PND) is a common task for the obstetrician and the midwife. However, the decision making processes of pregnant women are not completely known, for instance, the questions of women's autonomy, the decision on how to act in the case of an abnormal test, and the partner's participation in the decision.

A questionnaire and interview study was carried out among 211 women undergoing PND by amniocentesis or chorionic villus biopsy. Most women in the sample indicated that PND was completely voluntary. However, at the same time almost every woman reported that it was difficult to decline from PND when offered. Even before the visit to register at the antenatal clinic, most of the women (83 per cent) had made up their minds to have PND.

At the time of the test, many of the participants (62 per cent) had decided in favour of a legal abortion if the test indicated an abnormality in the fetus. At the same time, however, the data indicate a need for reflection and ambivalence, which the medical staff have to accept.

In the questionnaire most of the women stated that they and their partners had similar attitudes towards PND, but when interviewed 38 per cent of the women admitted some differences between their own attitudes and their partners'.

Although some women reported considerable deliberation and ambivalence, most of them said that they would undergo PND in another pregnancy.
Single umbilical artery: Prenatal findings
Authors: Herrmann Uli J. , Sidiropoulos Dimitris
Published: March 2007

In 450 patients with pregnancy at high risk for fetal malformation and/or intrauterine growth retardation, the umbilical cord was investigated sonographically for the presence of a single umbilical artery. A single umbilical artery was diagnosed in four fetuses between 23 and 33 weeks of gestation and suspected in two. Three cases were overlooked at sonography. All seven surviving fetuses had growth retardation at delivery and four also showed severe malformations. Whenever a single umbilical artery is found at sonography, further work‐up is required to rule out associated anomalies, intrauterine growth retardation, or chromosomal abnormality.
Spontaneous resolution of a cystic hygroma in a fetus with Turner syndrome
Authors: Chodirker B. N. , Harman C. R. , Greenberg C. R.
Published: March 2007

The prenatal detection of a cystic hygroma (CH) in a fetus with a 45,X karyotype is described. The cystic hygroma underwent spontaneous resolution and a healthy baby with Turner syndrome was subsequently born. The implications for genetic counselling are discussed.
Prenatal diagnosis of carbamoyl‐phosphate synthetase deficiency by fetal liver biopsy
Authors: Sereni L. Piceni , Bachmann C. , Pfister U. , Buscaglia M. , Nicolini U.
Published: March 2007

In a pregnancy at risk for carbamoyl‐phosphate synthetase (CPS) deficiency, prenatal diagnosis was attempted by fetal liver biopsy, performed at 18 weeks of gestation. CPS activity was absent and the diagnosis was confirmed after termination of the pregnancy. The technique employed for fetal liver biopsy is described together with an evaluation of its possible role in prenatal diagnosis.
Fetal curarization for prenatal magnetic resonance imaging
Authors: Daffos F. , Forestier F. , Mac Aleese J. , Aufrant C. , Mandelbrot L. , Cabanis E. A. , Iba‐Zizen M. T. , Alfonso J. M. , Tamraz J.
Published: March 2007

Fetal magnetic resonance (MR) imaging was performed at 33 weeks of gestation for investigation of a posterior fossa abnormality found at ultrasound screening. Fetal movements were abolished by vecuronium injected under ultrasound guidance into the umbilical vein. MR images showed atrophy of the left cerebellar lobe with cisternal dilatation. These were confirmed postnatally by CT scan.
The prenatal determination of glucose‐6‐phosphatase activity by fetal liver biopsy
Authors: Golbus Mitchell S. , Simpson Thomas J. , Koresawa Mitsuhiko , Appelman Zvi , Alpers Charles E.
Published: March 2007

Two fetuses at risk for glucose‐6‐phosphatase deficiency had in utero liver biopsies. Analysis of each showed this enzyme activity to be in the normal range and the pregnancies continued. Neither child has any clinical or metabolic evidence of glucose‐6‐phosphatase deficiency.
XX/XY chimerism encountered during prenatal diagnosis
Authors: Freiberg A. S. , Blumberg B. , Lawce H. , Mann J.
Published: March 2007

46,XX/46,XY chimerism has previously been reported in patients with abnormal sexual development, and rarely in otherwise normal individuals. We report the first postnatally documented prenatal diagnosis of whole‐body 46,XX/46,XY chimerism in humans, discovered by maternal age amniocentesis. The normal male phenotype in this child creates a dilemma in prenatal counselling, since genotypic male/female chimerism cannot be assumed to imply an abnormal sexual phenotype.
Prenatal diagnosis using deletion studies in Duchenne muscular dystrophy
Authors: Speer Marcy C. , Pericak‐Vance Margaret A. , Yamaoka Larry H. , Koh James , Hung Wu‐Yen , Gaskell Peter C. , Vance Jeffery M. , Bartlett Richard J. , Roses Allen D.
Published: March 2007

Accurate carrier testing and prenatal diagnosis in Duchenne muscular dystrophy (DMD) families is facilitated when an Xp21 deletion is found to be segregating within a family. We discuss the results of the DNA testing in two families, one in which DNA from affected males was available for study and the other in which no DNA from an affected male was available. Factors complicating the counselling of DMD deletion families are outlined.
Maternal serum thyroid antibodies in early pregnancy and fetal Down's syndrome
Authors: Cuckle Howard , Wald Nicholas , Stone Rossana , Densem James , Haddow James , Knight George
Published: March 2007

Thyroid antibodies were measured in mid‐trimester antenatal serum samples from 77 pregnancies affected by fetal Down's syndrome and 385 unaffected control pregnancies. Using a haemagglutination technique, thyroglobulin antibodies were detected in 5·2 per cent of cases (4) and 2·9 per cent of controls (11), and thyroid microsomal antibodies were detected in 22 per cent (17) and 15 per cent (59), respectively. Using an enzyme‐linked immunosorbent assay (ELISA) for thyroglobulin antibodies and a cut‐off level of 50 KIU/1, positive results were found in 25 per cent of cases (19) and 22 per cent of controls (84). Using an ELISA for thyroid microsomal antibodies and the same cut‐off level, the proportions were 52 per cent (40) and 39 per cent (149), respectively. While not statistically significant, the differences were consistent with the previously reported increased levels of thyroid antibody found in nonpregnant women who had had pregnancies associated with Down's syndrome.
Prenatal diagnosis of β‐thalassaemia by second‐trimester chorionic villus sampling
Authors: Monni Giovanni , Ibba Rosa Maria , Olla Giovanni , Rosatelll Cristina , Cao Antonio
Published: March 2007

In this study we evaluated the feasibility of second‐trimester transabdominal chorionic villus sampling for prenatal diagnosis of β‐thalassaemia in 80 pregnancies at risk presenting in the second trimester at the Antenatal Service.

Sampling was carried out from 13 to 20 weeks and was successful in all cases. The amount of chorionic villi obtained varied from 10 to 40 mg, which was sufficient to make fetal diagnosis by oligonucleotide analysis within 10 days from sampling in all cases. No fetal losses occurred. From these results we conclude that transabdominal chorionic villus sampling is a useful procedure for prenatal diagnosis of β‐thalassaemia in those couples presenting after the first trimester.
Computer‐assisted analysis of fetal behavioural states
Authors: Rizzo G. , Arduini D. , Mancuso S. , Romanini C.
Published: March 2007

A computerized system which simultaneously acquires and quantifies several ultrasonically detected fetal activities, including gross body movements, breathing movements, and eye movements, was developed in order to obtain additional quantitative data on fetal behaviour. Movements were automatically related to fetal heart rate allowing computation of their mean incidence, duration, lag time and percentage time spent moving during different heart rate patterns. The incidence of various behavioural states was also calculated. The study of 15 healthy fetuses near term revealed the existence of statistically significant differences in these parameters between low and high variability patterns of fetal heart rate suggesting a quantitative modulation of fetal movements by behavioural states.
Transabdominal chorionic villus sampling: Analysis of 350 consecutive cases
Authors: Bovicelli Luciano , Rizzo Nicola , Montacuti Vera , Morandi Raffaella , Vullo Calogero , Toffoli Cristina , Venturoli Anna
Published: March 2007

We report a series of 350 patients submitted to transabdominal chorionic villus sampling (CVS). A technique using two ultrasound‐guided needles and a suction pump was used. In most cases, the procedure was performed between 9 and 13 weeks. Twenty‐one pregnancies were selectively terminated; nine spontaneous abortions followed the procedure and one fetal loss after 28 weeks was recorded; 153 pregnancies are in progress and 169 delivered fetuses are alive and well. Transabdominal biopsy is a feasible and effective technique for CVS.
Altered fetal cardiac flow patterns in pure red cell anaemia (the Blackfan‐Diamond syndrome)
Authors: Visser G. H. A. , Desmedt M. C. H. , Meijboom E. J.
Published: March 2007

In a case of fetal anaemia due to pure red cell anaemia (Blackfan‐Diamond syndrome), two‐dimensional fetal Doppler echocardiography revealed an altered blood flow velocity pattern with entire incorporation of the atrial contraction component in the early passive filling phase of the right ventricle. Intracardiac blood velocities were increased, whereas cardiac output was only moderately increased. The fetal heart rate was normal. It is concluded that in fetal anaemia the compensatory mechanisms are limited and restricted to an increase in stroke volume. The hypothesis that chronic fetal anaemia is associated with ‘high output cardiac failure’ corresponds well with the present findings. The technique described may prove to be useful in the early diagnosis of fetal anaemia.
The distinction between arylsulphatases in chorionic villi
Authors: Diukman R. , Zeigler M. , Bach G.
Published: March 2007

The relatively high activity of arylsulphatase C (ASC) in the placenta is a potential risk for the misdiagnosis of arylsulphatase A (ASA) or arylsulphatase B (ASB) deficiency in chorionic villus sampling when assayed by synthetic substrates. A clear distinction between these enzymes can be achieved in either the direct villi or the cultured villi cells. Interestingly, the activity of ASC differed significantly in cultured villi cells when prepared by two different methods, namely, minced villi versus treatment with trypsin and collagenase, while ASA and ASB were not affected by these treatments. Whether ASC was directly affected by one of these treatments or whether a selection of cells with different ASC levels was achieved is not yet clear, but this phenomenon clearly indicates the importance of precise definition of CVS preparations to correlate with the enzyme activity data.
Prenatal diagnosis of a rare heteropagus
Authors: Lituania M. , Cordone M. , Zampatti C. , Passamonti U. , Santi F.
Published: March 2007

The prenatal diagnosis by ultrasound of an unusual case of supernumerary head is reported. The problems of differential diagnosis, the pathological findings after voluntary interruption of the pregnancy, and the problems of obstetric management are presented.
Incidental detection of premature centromere separation in amniocytes associated with a mild form of Roberts syndrome
Authors: Stanley Wayne S. , Pai G. Shashidhar , Horger Edgar O. , Yongshan Yan , McNeal Karen S.
Published: March 2007

Premature centromere separation (PCS) was detected in amniocytes after an amniocentesis was done because of markedly elevated maternal serum alpha‐fetoprotein values in a healthy primiparous young woman. PCS has been associated with the Roberts‐SC phocomelia syndrome (RS). By 23 weeks' gestation, ultrasonic evaluations did not reveal abnormal fetal development. The pregnancy continued and a male infant was born with mild manifestations of RS. PCS was confirmed in cord blood lymphocytes. This case illustrates that PCS, when detected in amniotic fluid cell cultures, requires a thorough evaluation.