bluuebunny/crossref_metadata_2025 huggingface dataset:
Ultrasonic placental localization in relation to spontaneous abortion after mid‐trimester amniocentesis
Authors: Hill Joseph A. , Reindollar Richard H. , McDonough Paul G.
Published: March 2007

This paper summarizes our experience with a series of 562 women referred for mid‐trimester amniocentesis for prenatal diagnosis. Ultrasonography was utilized for placental localization. Follow‐up revealed a fetal loss rate of 3.03 per cent with 1.96 per cent being spontaneous abortions. Patients with an anterior placenta had a fetal loss and spontaneous abortion rate of 4.06 per cent and 3·05 per cent, respectively. No significant difference in the incidence of fetal loss (p > 0·1) or spontaneous abortion (p > 0·5) was found in patients having an anterior versus a posterior placenta. Neither multiple insertions through an anterior placenta nor blood contaminated amniotic fluid from patients with an anterior placenta were associated with an increased incidence of fetal loss or spontaneous abortion.
Mucolipidosis IV: Prenatal diagnosis by electron microscopy
Authors: Kohn Gertrude , Sekeles Eliezer , Arnon Judith , Ornoy Asher
Published: March 2007

Mucolipidosis IV (ML 1V) is a lysosomal storage disease presenting in infancy with cloudy cornea and psychomotor retardation. Our experience with 12 pregnancies at risk for ML IV, monitored by transmission electron microscopy (TEM) studies of cultured amniotic fluid cells, is presented. The prenatal diagnoses were confirmed in the 3 affected and the 8 un‐ affected pregnancies. In the one pregnancy where no definite diagnosis was reached the pregnancy was terminated. TEM examination of fetal tissues from this pregnancy showed no abnormal lysosomal storage bodies and a review of the cultured amniotic fluid cell sections revealed that the diagnosis of a normal fetus could have been made.
Prenatal diagnosis of cleft lip and palate by ultrasound
Authors: Savoldelli G. , Schmid W. , Schinzel A.
Published: March 2007

Bilateral cleft lip and cleft palate can be diagnosed by ultrasonography prior to 20 weeks of pregnancy. The anomaly produces an abnormal facial profile and, on cross‐section, the clefts in the maxilla are demonstrable. The method is illustrated by sonograms from a fetus in which the defect was diagnosed before trisomy 13 became known by karyotyping.
Fetal blood group studies during mid‐trimester pregnancy and the management of severe isoimmunization
Authors: Mackenzie Ian , Guest Claire M. , Bowell Peter J.
Published: March 2007

Fetal blood samples collected at 14–22 weeks' gestation by fetoscopy have been analysed for 25 different red cell antigens and anti‐A antibodies. The results obtained demonstrate that the technique can be used to determine fetal blood groups during mid‐pregnancy and also to provide the opportunity to study the physiological and pathological developments of blood groups and their antibodies and to manage more rationally those pregnancies threatened by erythroblastosis fetalis.
Prenatal determination of uridine diphosphate galactose‐4‐epimerase activity
Authors: Gillett M. G. , Holton J. B. , Macfaul R.
Published: March 2007

A prenatal diagnosis has been performed in a pregnancy at risk for uridine diphosphate galactose‐4‐epimerase deficiency, an enzyme variation causing severe symptoms in the neonatal period similar to those of classical galactosaemia. The postnatal enzyme investigation, and uneventful development of the child, indicate that the prediction of an unaffected, heterozygous, fetus was correct.
Prenatal sonographic diagnosis of meconium peritonitis
Authors: Clair Michael R. , Rosenberg Eric R. , Ram Panol C. , Bowie James D.
Published: March 2007

The ultrasonographer may be the first physician to suggest the presence of a fetal abnormality. A case of prenatally‐detected meconium peritonitis is presented, with sonographic and radio‐graphic correlation.
The safety of fetoscopy: (I). Effect of umbilical vessel puncture on the fetal heart rate and cord histology
Authors: Hertogs K. , Nicolini U. , Tzannatos C. , Rodeck C. H.
Published: March 2007

The fetal heart rate (FHR) was continuously monitored during 42 umbilical vessel punctures performed at the placental insertion of the cord in 24 diagnostic fetoscopies in which pure fetal blood was obtained. In only one patient did a deceleration first appear during puncture and aspiration of fetal blood. In two patients decelerations preceded fetoscopy and in two others they began during the fetoscopy but before puncture of an umbilical vessel. In 19 patients, the FHR did not change at all during the procedure. Fetal haemorrhage after sampling was either absent or minimal. Six pregnancies were terminated because a positive diagnosis had been made and 18 healthy babies were born.

Umbilical cords were examined after 7 terminations of pregnancy and after 6 deliveries. In the former group the puncture could just be seen with the naked eye and the needle track was demonstrated histologically in 6. No traces of the puncture or other abnormalities were found in the cords after delivery.

Fetal blood sampling from umbilical cord vessels, particularly at the placental insertion of the cord, is the technique of choice since pure fetal blood can be obtained without increasing the risk of fetoscopy.
A cost‐benefit analysis of a population screening programme for neural tube defects
Authors: Sadovnick Adele D. , Baird Patricia A.
Published: March 2007

Population screening for neural tube defects is possible by measuring maternal serum alpha‐fetoprotein levels with appropriate follow‐up as required. British Columbia has approximately 39 000 births annually and the incidence of neural tube defects is 1–55 per 1000 births (0–94 per 1000 livebirths). Results from a cost‐benefit analysis suggest that the outlined screening programme would be cost‐beneficial for British Columbia. Other important factors essential to consider before instituting a population screening programme are discussed.
Sonographic diagnosis of cystic adenomatoid malformation in‐utero
Authors: Cohen Ronald A. , Moskowitz Peter S. , McCallum W. Desmond
Published: March 2007

Routine ultrasound examination at 30 weeks gestation revealed an intrapulmonary cystic mass in an otherwise normal fetus. Following delivery at term, the diagnosis of congenital cystic adenomatoid malformation of the right lung was confirmed, and an elective right middle lobectomy successfully performed at nine days of age.
Amniocentesis carried out for neural tube indications in South Wales 1973–1981: Outcome of pregnancies and findings in the malformed abortuses
Authors: Laurence K. M. , Dew J. O. , Dyer C. , Downey K. H.
Published: March 2007

The 2872 second trimester amniocenteses followed by amniotic alphafetoprotein (AFP) estimations carried out in South Wales between 1973 and 1981 on women known to be at increased risk for neural tube defect (NTD) and those who had a raised serum AFP level in an NTD screening programme led to the identification of 78 pregnancies of a fetus with anen‐cephalus, 61 with ‘open’ spina bifida, 8 with gastroschisis, 3 with exomphalos, 2 with encephalo‐cele and 6 with chromosome abnormality. Pregnancies of fetuses having 4 potentially identifiable NTDs were missed because of an equivocal AFP level and there were two false positive results leading to the termination of one normal fetus. It is emphasized that both the latter problems of one normal fetus. It is emphasized that both the latter problems would not have occurred had gel‐electrophoresis for isoenzymes of acetyl cholinesterase been available. Follow‐up of pregnancies showed that 7 children with ‘closed’ NTD and 3 with congenital hydrocephalus were born.

The anencephalics and the ‘open’ spina bifidas had a more florid lesion than is usual at term. Nearly all the spina bifidas were associated with hydrocephalus, often severe and with an obvious Arnold‐Chiari malformation. All but 13 had leg or back deformation or malformations in other systems, mostly in the renal tract.
Prenatal detection of hydrolethalus syndrome
Authors: Hartikainen‐Sorri Anna‐Liisa , Kirkinen Pertti , Herva Riitta
Published: March 2007

The prenatal diagnosis of hydrolethalus syndrome is presented on the basis of seven cases. The results demonstrate the primary importance of ultrasonography in the evaluation of this type of malformation. Already in early pregnancy, the intracranial abnormalities and the accelerated growth rate of the fetal head are demonstrable by ultrasound more easily than in ordinary ‘simple’ hydrocephalus.

Diagnostic amnioncentesis in early pregnancy proved to be useless because alpha‐feto‐protein levels and chromosomal status were normal.
Preparation of high resolution chromosomes from amniotic fluid cells
Authors: Hoo J. J. , Jamro Heidi , Schmutz Sheila , Lin C. C.
Published: March 2007

A relatively simple method of obtaining high resolution chromosomes from amniotic fluid cells is described. The elongated chromosomes are achieved by adding ethidium bromide (5μg/ml) to the culture 4 1/2 hours before harvesting and the high resolution banding can be produced by usual banding procedures.
Fetal blood sampling via the umbilical cord using a needle guided by ultrasound report of 66 cases
Authors: Daffos Fernand , Capella‐Pavlovsky Martine , Forestier François
Published: March 2007

Pure fetal blood has been aspirated in utero from the umbilical vein near the placental insertion of the cord using a twenty gauge needle under ultrasound guidance.

Sixty‐six samples were taken on 63 pregnancies between 17 and 32 weeks of gestation. One to two millilitres of blood can be obtained easily without amniotic fluid dilution or contamination by maternal blood, as confirmed by the measurements of the mean corpuscular volume, the histogram distribution of the red blood cells and the hematocrit. In all cases the Kleihauer test and isoelectrofocusing of the hemoglobins were performed. Coagulation factors were also studied in 60 cases.

In 17 cases a medical abortion was voluntarily induced after the procedure, and the follow‐up was normal during the observation period after sampling. In the other cases, pregnancies have continued normally and twelve healthy babies have already been born.
Recurrence risk of neural tube defects following a miscarriage
Authors: Cuckle Howard S.
Published: March 2007

Data from 280 sibships in three published series were used to see if the increased risk of neural tube defect (NTD) associated with having had a miscarriage in the immediately preceding pregnancy was also found in women with a previous affected pregnancy. A statistically significant relative risk of 4.0 (2‐tail P=0.0111, Fisher exact test) was found among such women, and this could not be accounted for by the effect of parity or of a history of miscarriage in general. The finding may be useful when counselling patients.
Prenatal prediction of duplication 10q24→qter by gene dosage of GOT1 on uncultured amniotic cells
Authors: Dallapiccola B. , Novelli G. , Micara G. , Ferranti G. , Pachi A. , Magnani M.
Published: March 2007

Glutamic‐oxaloacetic transaminase (GOT1) gene dosage studies were performed on uncultured amniotic cells from a fetus at risk for duplication/deficiency of 10q24→qter, due to maternal translocation t(9;10)(p24;q24).

Previous investigations in the same pedigree had shown triplex dosage effect of GOT1 on red blood cells of a 10q24→qter trisomic fetus monitored by midtrimester amniocentesis.

In the present pregnancy, the GOT1 activity of amniotic cells exhibited a triplex gene dosage, suggesting duplication of region 10q24→qter in the fetus. The biochemical prediction was confirmed two weeks later by cytogenetic analysis.
Normal second‐trimester amniotic fluid alphafetoprotein and acetylcholinesterase associated with fetal sacrococcygeal teratoma
Authors: Brock David J. H. , Richmond David H. , Liston W. A.
Published: March 2007

Amniocentesis was performed at 19 weeks' gestation on a patient with two sequential serum alphafetoprotein values above 2 times median. Ultrasound examination suggested a possible sacrococcygeal teratoma. However, both amniotic fluid alphafetoprotein and acetylchol‐inesterase were normal, and the patient elected to continue her pregnancy. At 24 weeks fetal demise was confirmed, and prostaglandin induction of labour produced a macerated female fetus with a large sacrococcygeal teratoma.
Limited use of chromosomal markers in prenatal diagnosis
Authors: Friedrich Ursula , Jensen Peter K. A.
Published: March 2007

By aid of fluorescent centromere markers in chromosome No. 3 it could be shown that crossing over in a translocation quadrivalent had occurred on two occasions in a father who is carrier of a 3/5 translocation. This case demonstrates that marker chromosomes cannot always be used to trace the parental origin of structurally abnormal chromosomes.
Activity and multiple forms of α‐L‐fucosidase and hexosaminidase in chorion biopsy specimens and some fetal organs
Authors: Beyer E. M. , Wiederschain G. Ya.
Published: March 2007

It was shown that activities and isoenzyme patterns of x‐L‐fucosidase and hexosaminidase were similar in biopsy specimens of chorion obtained immediately before induced abortion in normal pregnancy and in chorion tissue itself. A comparative study of isoenzyme patterns of these glycosidases showed their similarity in chorion and human fetal kidney, liver and lungs. The data obtained may be applied to the investigation of the multiple forms of α‐L‐fucosidase and hexosaminidase in chorion biopsy specimens for the prenatal diagnosis of fucosidosis (α‐L‐fucosidase deficiency). Tay‐Sachs diseases (hexosaminidase A deficiency) and Sandhoff disease (deficiency of hexosaminidase A and B).
Discordance between prenatal cytogenetic diagnosis and outcome of pregnancy
Authors: Loft Anne , Tabor Ann
Published: March 2007

From 1.3.73 to 30.9.80 5580 women had an amniocentesis performed here or elsewhere; fetal chromosome analyses were carried out in this laboratory. We found 112 abnormal karyotypes (2 per cent) out of 5591 chromosome analyses. In 40 women (0.7 per cent) no cytogenetic diagnosis was obtained. Follow‐up was successful in 99.5 per cent. Nine cases are reported in detail: Three cases had discrepancy between the karyotype in amniotic fluid and peripheral blood after delivery, two of these cases turned out to be 46,XX (male) while the third was prenatally determined as trisomy 21, but had a 46,XX karyotype at birth. Six cases had discrepancy between the karyotype in amniotic fluid and the phenotypic outcome at birth/abortion. One case was a prenatally undetected 45,X/46,XY mosaicism; one case was an unexplained 45,X male fetus; two cases were prenatally determined as trisomy 21, but at abortion a normal karyotype was determined and in two cases maternal cells were probably examined. The incidence of cytogeneric errors in this study was very low.
Prenatal diagnosis of mosaicism 46, XX/46, XX, −21, +t(21q21q)
Authors: Long Wenda S. , Mennuti Michael T. , Emanuel Beverly S. , Zackai Elaine H.
Published: March 2007

Mosaicism for a structural chromosome abnormality in amniotic cell cultures indicative of true fetal mosaicism is a rare event. In addition to the laboratory findings the clinical interpretation for counselling in such cases is based on observation of the same abnormality in liveborns as well as previous experience with prenatal diagnosis of the same or similar abnormalities. We report here the prenatal diagnos is of 46,XX/46,XX,−21,+t(21q21q) which was confirmed in fetal skin cell and amnion cell cultures.
Prenatal diagnosis of anhidrotic ectodermal dysplasia
Authors: Arnold M.‐L. , Rauskolb R. , Anton‐Lamprecht I. , Schinzel A. , Schmid W.
Published: March 2007

This paper reports on successful prenatal diagnosis of X‐linked anhidrotic ectodermal dysplasia (AED) by means of light and electron microscopy on fetal skin biopsies obtained under fetoscopy.

In the present family two brothers of the proband were severely affected with the full symptomatology of AED, the pregnant female and her mother revealed minor symptoms with patches of skin lacking vellus hair. Control of lesional skin of the affected family members by electron microscopy revealed no ultrastructural abnormalities. However, all biopsies lacked skin appendages including hair follicles, sebaceous glands, and sweat glands. The lack of pilosebaceous follicles can be used as a diagnostic criterion since these structures are fully developed in normal fetuses of 20 weeks whereas the development of sweat glands does not start before week 20 to 24 of fetal life. Skin biopsies were taken from various regions of the fetus at risk via fetoscopy in week 20 and processed for light and electron microscopy. All samples revealed complete absence of all skin appendages in contrast to a total of 61 non‐AED fetuses. Thus positive prenatal diagnosis of AED was made and the pregnancy was terminated. Control investigations after abortion confirmed the diagnosis.
Evaluation of inorganic pyrophosphate in amniotic fluid as a mode of prenatal diagnosis of osteogenesis imperfecta
Authors: Garver Kenneth L. , Blitzer Miriam G. , Ibezim Gladys , Marchese Sandra G. , Pegram Dolores L. , Hagins Anita M. , Zhang Wnjing
Published: March 2007

Using a modified procedure by Solomons and Styner (1969), an evaluation of inorganic pyrophosphate (PPi) was performed on the amniotic fluid of two fetuses at risk for osteogenesis imperfecta (OI) at 14½ weeks gestation. The parents of both cases had a previous child with OI, Type II. The normal control group at 14–16 weeks gestation had PPi values ranging from 22.0–59.2 ug/100 ml, with a mean of 38.6±9.51 ug/100 ml. In each at‐risk fetus, the amniotic fluid PPi value was within normal range. The first baby was born phenotypically normal at term. Intrauterine radiographic and fetal sonograms were done on the second fetus at approximately 19 weeks gestation. Both showed evidence of OI, Type II. The pregnancy was terminated at 21 weeks. Radiologic studies of the aborted fetus were consistent with OI, Type II. Our results indicate that the evaluation of PPi levels in amniotic fluid is not the method of choice for prenatal diagnosis of IO.
Prenatal diagnosis of thrombocytopenia absent radius syndrome using ultrasound and fetoscopy
Authors: Filkins Karen , Russo Joseph , Bilink Irene , Diamond Norma , Searle Bernard
Published: March 2007

The prenatal diagnosis of thrombocytopenia absent radius syndrome in both dizygotic twins utilizing ultrasound, radiography and fetoscopy is described.
Prenatal diagnosis of 45,X/46,XX mosaicism: True mosaicism in only one of four primary cultures
Authors: Knight L. A. , Lawce H. , Wcislo K. L. , Bannister V. S.
Published: March 2007

45,X/46,XX mosaicism was found in only one of four primary amniotic fluid cultures. Repeat amniocentesis revealed 45,X/46,XX mosaicism in all four primary cultures. Mosaicism was confirmed in tissues from the abortus.
Maternal cell contamination of amniotic fluid cell cultures from two consecutive pregnancies complicated by fibroids
Authors: Benn P. A. , Gilbert F. , Hsu L. Y. F.
Published: March 2007

The detection of maternal cells in amniocyte cultures is thought to be due to the outgrowth of cells from small fragments of maternal tissue removed by the amniocentesis needle. An unusual case is reported in which maternal cell contamination (MCC) was found in the cell cultures from a woman in two different amniocenteses from two consecutive pregnancies. Both pregnancies were complicated by the presence of fibroids and the fibroid tissue may have been the source of the maternal cells.

A history of an amniocentesis in which there was MCC of cell cultures, or the detection of fibroids, may pose an additional risk for MCC attributable misdiagnosis in prenatal genetic studies.
A rare non‐heterochromatic 9p+ variant in two amniotic fluid cell cultures
Authors: Archidiacono N. , Pecile V. , Rocchi M. , Dalpra L. , Nocera G. , Simoni G.
Published: March 2007

Two cases of amniotic fluid cell cultures are reported, where a familial, non‐heterochromatic 9p+ variant has been found.
Amniotic fluid microvillar enzyme activities in the early detection of fetal abnormalities
Authors: Brock David J. H. , Bedgood David , Hayward Caroline , Carbarns Neil J. , Gosden Christine
Published: March 2007

Measurement of the microvillar enzymes, γ‐glutamyltranspeptidase (GGTP), aminopeptidase M (APM) and alkaline phosphatase (ALP), in amniotic fluid supernatant has been proposed as a method for the early prenatal diagnosis of cystic fibrosis. The activities of these enzymes in a series of other fetal abnormalities have now been examined. GGTP activities were below the 5th percentile in 28 out of 54 cases of trisomy 21 and 9 of 14 cases of trisomy 18, while APM values were below this cut‐off in 26 of 54 cases of trisomy 21 and 8 of 14 cases of trisomy 18. Abnormal ALP isoenzyme ratios were found in 6 of 54 cases of trisomy 21 and 4 of 14 cases of trisomy 18. If prenatal cytogenetic studies are routinely carried out on amniotic fluid cells, the occasional confounding effect of abnormal microvillar enzymes associated with fetal trisomies rather than with cystic fibrosis should be avoided.
Chromosome analysis of first trimester chorionic villus biopsies Prepared by a maceration technique
Authors: Heaton D. E. , Czepulkowski B. H. , Horwell D. H. , Coleman D. V.
Published: March 2007

A technique for the culture of chorionic villi for cytogenetic studies is described which is simple, reliable, rapid, and suitable for routine laboratory use. This method eliminates the need for multi‐stage and time‐consuming procedures inherent in previous techniques which have been developed for this tissue. Cultures suitable for analysis were obtained in an average of sixteen days and the risk of maternal cell contamination was evaluated. Results of cultures initiated from 50 chorion biopsies obtained by transcervical blind aspiration at a weekly termination clinic are presented, and the potential use of this technique as a routine procedure is discussed.
Predictive value of amniotic acetylcholinesterase analysis in the diagnosis of fetal abnormality in 3700 pregnancies
Authors: Aitken D. A. , Morrison N. M. , Ferguson‐Smith M. A.
Published: March 2007

The value of acetylcholinesterase (AChE) analysis as an adjunctive test to amniotic alpha fetoprotein (amAFP) for the diagnosis of fetal abnormality has been investigated in a series of 3785 amniotic fluid samples. Quantitative analysis of AChE performed retrospectively on a selected group of 541 amniotic fluid samples failed to discriminate between normal and open neural tube defect pregnancies. Qualitative analysis of AChE by polyacrylamide gel (PAG) electrophoresis in the same series of 541 fluids correctly identified 251 of the 255 pregnancies with open neural tube defect and 29 of the 31 pregnancies with false positive amAFP results. The failure of the test to diagnose 4 cases of open neural tube defect was probably attributable to the age and condition of the stored AF samples.

Routine diagnostic testing of AChE isoenzymes in a further 3244 AF samples successfully identified all 170 cases of open neural tube defect and 20 cases with other fetal defects. Thirteen fluids gave false positive AChE results (0.4 per cent) compared to 59 of the series in which there were false positive amAFP results (1.8 per cent). Six of the 13 false positive AChE cases had AChE bands of low intensity which would not be regarded as diagnostic of fetal abnormality, and in five the AChE band may have been the result of significant blood contamination. False positive AChE results contributed to the decision to abort three apparently normal fetuses, but a normal AChE result undoubtedly helped to save a number of pregnancies with false positive amAFP results.

Our experience suggests that repeating the amniocentesis may help in resolving the rare diagnostic difficulty of a positive AChE result with or without an elevated amAFP in the absence of ultrasound evidence of fetal abnormality, particularly where there is blood contamination of the amniotic fluid sample.
Prenatal sex diagnosis: Testosterone and fsh levels in mid‐trimester amniotic fluids
Authors: Abeliovich Dvorah , Leiberman Joseph R , Teuerstein Iris , Levy Joseph
Published: March 2007

We studied the validity of mid‐trimester amniotic fluid testosterone and FSH in the diagnosis of fetal sex in abnormal fetuses and in twins.

It was found that the testosterone/FSH ratio, but not the level of the individual hormones, was an excellent criterion for fetal sex diagnosis. In a control group of 32 female and 34 male fetuses, the testosterone/FSH ratio was diagnostic. In two cases the values were indeterminate and fetal sex could not be predicted, but there were no false diagnoses.

The abnormalities of the fetuses were diagnosed by karyotype analyses or raised levels of α‐fetoprotein. It was found that neither autosomal trisomies nor X‐chromosome aneuploidy or neural tube defect interfered with the diagnostic value of the hormonal approach.

The twin study included 14 pairs, three of whom were discordant for sex. In all twins the fetal sex diagnosis was appropriate. In co‐twins of the same sex the hormone levels were very close to each other.
Gastroschisis and omphalocele: Prenatal diagnosis and perinatal management
Authors: Davidson J. M. , Johnson Timothy R. B. , Rigdon David T. , Thompson Barry H.
Published: March 2007

Obstetric ultrasonography has made the prenatal diagnosis of gastroschisis and omphalocele more common. We present illustrative cases 2nd review the ultrasonographic features.

Because of the increased risk of concomitant abnormalities (including trisomies) with omphalocele, full evaluation is indicated when this diagnosis is suspected.

Recent perinatal approaches to delivery have favoured caesarean section. without scientific evidence that outcome is improved. Our experience. as well as a review of the literature, suggests that the outcome for vaginally delivered infants is acceptable. A prospective study of this question is needed.
Aneuploidy and cystic hygroma detectable by ultrasound
Authors: Redford D. H. A. , McNay M. B. , Ferguson‐Smith M. E. , Jamieson M. E.
Published: March 2007

During one year, five second trimester fetuses with cystic hygromata and varying degrees of oedema presented to the authors from hospitals in the West of Scotland. Two fetuses had 45X karyotypes, one each had 47XY+21 and 47XX+18 karyotypes, and the fifth had a normal 46XY karyotype. Fetal oedema detectable by ultrasound, affecting particularly the back of the neck, may be a commoner manifestation of several aneuploid syndromes than has hitherto been recognized.
The prenatal diagnosis of joubert's syndrome of familial agenesis of the cerebellar vermis
Authors: Campbell Stuart , Tsannatos Christina , Pearce J. Malcolm
Published: March 2007

The prenatal diagnosis by ultrasound examination of Joubert's syndrome of familial agenesis of the cerebellar vermis is described allowing termination of pregnancy ai 26 weeks gestation. The diagnosis was made by a comparison of the prenatal ultrasound examination with computerized axial tomography obtained from the siblings with the same condition.
Prenatal assessment of anterior abdominal wall defects and their prognosis
Authors: Mann Linda , Ferguson‐Smith M. A. , Desai M. , Gibson A. A. M. , Raine P. A. M.
Published: March 2007

Eighty‐eight cases of abdominal wall defect with and without other lesions were ascertained by reviewing all labour room records in the West of Scotland, all surgical admissions to the Royal Hospital for Sick Children, Yorkhill, and all post mortems at Royal Hospital for Sick Children between 1978 and 1981. The affected cases comprised 39 terminations of pregnancy (17 of anterior abdominal wall defect without neural tube defect). 20 spontaneous stillbirths and 29 livebirths. All 10 cases of body stalk anomaly, 37.5 per cent of 16 gastroschisis cases and 53 per cent of 62 exomphalos cases had additional severe abnormalities. Abnormal karyotypes were present in seven out of 19 exomphalos cases but all karyotypes from 10 gastroschisis and 6 body stalk anomaly cases were normal. No correlation was found between the maternal serum AFP levels, the amniotic AFP levels and acetylcholinesterase results and the size of the lesion.

It is proposed that anterior abdominal wall defects detected prenatally should have chromosome analysis and careful ultrasound to exclude associated severe anomalies before coming to a decision about termination. This policy was implemented in six pregnancies complicated by fetal gastroschisis without severe associated anomalies which were identified in the second trimester and continued to term. Immediate surgical repair was achieved in each case, although two of the infants succumbed from later complications of gastroschisis closure and one from respiratory distress syndrome. The remaining three infants made a satisfactory recovery.
Early prenatal sonographic appearance of rare thoraco‐abdominal eventration
Authors: Seeds John W. , Cefalo Robert C. , Lies Stephen C. , Koontz William L.
Published: March 2007

Fetal ventral wall malformations may be diagnosed prenatally with ultrasound. These include omphalocele, gastroschisis, or even thoracic defects with or without ectopia cordis. It is important whenever such a defect is found to carefully define the full extent of the lesion prior to parental counselling. Described and illustrated here is the prenatal diagnosis with real‐time ultrasound at 17 weeks gestation of a rare thoraco‐abdominal ventral wall defect including omphalocele, bifid sternum, diaphragmatic aplasia, and pericardial aplasia with incomplete ectopia cordis. The technique is described and the importance of the complete, accurate delineation of anatomic malformations is emphasized.
Prenatal ultrasonic findings in congenital chloride diarrhoea
Authors: Kirkinen P. , Jouppila P.
Published: March 2007

In 3 fetuses affected by congenital chloride diarrhoea there were characteristic prenatal ultrasonic findings. In all cases the fetal abdominal cavity was filled with distended loops of fetal intestine, the fetal stomach was of normal size and polyhydramnios was present. The prenatal ultrasonic findings in this metabolic inherited disease are identical to those caused by mechanical obstruction of the distal fetal intestine. Whenever these findings are encountered prenatally, the possibility of chloride diarrhoea should be considered, because therapy with electrolytes is needed rather than the surgical intervention required in mechanical intestinal obstruction.
A canadian collaborative study of mosaicism in amniotic fluid cell cultures
Authors: Worton Ronald G. , Stern Randi
Published: March 2007

Data on chromosomal mosaicism was collected retrospectively on 12 386 amniotic fluid samples cultured over a 10 year period in 14 Canadian centres.

Level I mosaicism (a single abnormal cell—excluding single cell monosomy) was encountered in 863 cases (7.1 per cent). Level II mosaicism (multiple cells with the same abnormality in a single flask or colony) was encountered in 138 cases (1.1 per cent). Level III mosaicism (multiple cells distributed over multiple flasks or colonies) was encountered in 34 cases (0.3 per cent).

Analysis of the details of these cases allowed five major conclusions to be drawn: (1) Single cell abnormalities should not be taken as an indication of true fetal mosaicism. Only rarely will this interpretation prove to be incorrect. (2) Mosaicism involving multiple cells confined to a single flask should not be regarded as an indication of true fetal mosaicism. Only occasionally will this interpretation prove to be incorrect. (3) Mosaicism involving multiple cells distributed over more than one flask should be regarded as a strong indication of true fetal mosaicism. Sixty per cent will be confirmed by karyotype analysis of the fetus or infant. (4) Mosaicism of the XX/XY type is usually due to maternal cell contamination. Occasionally it can be a female fetus with XY cells from an unknown source. (5) The in situ or colony method of chromosome analysis has no clear advantage over the flask method for either the detection of true fetal mosaicism or for the ability to distinguish true mosaics from false positives.
European collaborative study on prenatal diagnosis: Mosaicism, pseudomosaicism and single abnormal cells in amniotic fluid cell cultures
Authors: Bui T.‐H. , Iselius L. , Lindsten J.
Published: March 2007

A report is given of the results of a European collaborative study on mosaicism, pseudomosaicism and single abnormal cells in amniotic fluid cell cultures. The mean frequency of cases with mosaicism was 0.10 per cent, with pseudomosaicism 0.64 per cent and with single abnormal cells 2.83 per cent in a series of 44 170 amniotic fluid samples. There was no significant difference between the colony (in situ) and the flask method with regard to the frequency of mosaicism. Pseudomosaicism and single abnormal cells were more frequent in cases studied with the flask method probably due to other factors than the method of cultivation of the cells.

The frequency of maternal cell contamination was 0.17 per cent and the frequency of wrong sex assignment was 0.11 per cent. A more correct estimation is obtained if these frequencies are doubled.

There was a considerable variation between laboratories with regard to the frequencies given above. One reason for this variation is that there are no sharp limits between mosaicism, pseudomosaicism and single abnormal cells. Thus the material contained cases diagnosed as having pseudomosaicism which turned out to be mosaics at birth and to have an abnormal phenotype. These cases were very rare but pose a definite problem in prenatal cytogenetic diagnosis.
Prenatal pleural effusion associated with congenital pulmonary lymphangiectasia
Authors: Wilson R. H. J. Kerr , Duncan A. , Hume R. , Bain A. D.
Published: March 2007

A pleural effusion associated with congenital pulmonary lymphangiectasia was detected in a fetus in utero but was absent at the time of delivery. The pleural effusion was unilateral although the disease involved both lungs. In this case there was an association between polyhydramnios and congenital pulmonary lymphangiectasia.
Prenatal diagnosis of cystic fibrosis. II. Meconium ileus in affected fetuses
Authors: Muller F. , Aubry M. C. , Gasser B. , Duchatel F. , Boué J. , Boué A.
Published: March 2007

Meconium ileus was the presenting feature of cystic fibrosis in 46 per cent of the couples which have been referred for prenatal diagnosis.

In fetuses which have been aborted on the basis of alkaline phosphatase isoenzymes assays, meconium ileus represented the only pathological feature of cystic fibrosis, and was observed in three fourths of the cases.

Real‐time sonographic examination of fetuses at the time of amniocentesis was able to show an echogenic mass in the abdomen corresponding to the meconium ileus, and thus may afford a complementary means of diagnosis.
Microvillar enzyme analysis in amniotic fluid and the prenatal diagnosis of cystic fibrosis
Authors: Aitken D. A. , Yaqoob M. , Ferguson‐Smith M. A.
Published: March 2007

The activities of two microvillar enzymes, gamma‐glutamyltranspeptidase (GGTP) and alkaline phosphatase (ALP) have been determined in amniotic fluid (AF) samples from 39 pregnancies with a 1‐in‐4 risk of cystic fibrosis. Seventeen of these were investigated prospectively. A reduced proportion of the fetal specific intestinal ALP isoenzyme was found in 7 of a total of 13 pregnancies with cystic fibrosis and in one pregnancy of confirmed normal outcome. Eight of the affected pregnancies were tested for AF GGTP activity and depressed levels were found in 15. None of the 3 liveborn cystic fibrosis cases in the prospective series was identified by the ALP assay although 2 had significantly reduced GGTP activity. There were several amniotic fluid samples from cases of cystic fibrosis, trisomy 18 and normal outcome which had discordant GGTP and ALP results.

Four of the 6 cases of cystic fibrosis misclassified by the ALP assay had amniocentesis at 15 or 16 weeks gestation. Evidence is presented which confirms a previous suggestion that amniocentesis after 17 weeks gestation improves the predictability of the ALP isoenzyme assay for the prenatal diagnosis of cystic fibrosis.
Five cases of prenatally diagnosed sex chromosome mosaicism
Authors: Nocera G. , Dalpra L. , Tibiletti M. G. , Buscglia M.
Published: March 2007

Prenatal detection of chromosome mosaicism is a relatively rare phenomenon and always constitutes a diagnostic problem. The difficulties are much more when the mosaics involve the sex chromosomes, because of the large phenotypic variability in individuals with these abnormalities. We studied 5 cases of true mosaics, 4 of these were prenatally detected, while 1 case was revealed only in the fetal lymphocytes after induced abortion. The limits of amniotic fluid culture with regard to the diagnosis of true mosaics and the difficulties arising in genetic counselling are discussed.
Prenatal diagnosis of trisomy 10 p in a twin pregnancy
Authors: Farge Pierre , Dallaire Louis , Potier Michel , Melançon Serge B.
Published: March 2007

A twin pregnancy with trisomy 10 p due to a paternal 10;12 translocation is reported. The prenatal diagnosis steps followed in twin pregnancies are reviewed and the concordant features of trisomy 10 p seen in both fetuses confirm previous reports on the clinical features of this chromosomal defect.
Amniotic fluid gel acetylcholinesterase determination in prenatal diagnosis: Dark field illumination as a method for improving the detection of precipitation bands
Authors: Leschot N. J. , Heyting C. , Schaik M. V. , Redeker E. J. W.
Published: March 2007

This paper describes a sensitive method for the detection of precipitation bands in the qualitative acetylcholinesterase (AChe) gel test. This method–dark field illumination–is compared with two existing methods of detection: epi‐illumination of unstained gels and transillumination of dithio‐oxamide stained gels. The comparison has been carried out on a selected series of 271 amniotic fluid samples, taken before the 22nd week of gestation. All 96 samples from normal pregnancies were scored as negative with all three visualization methods. For the detection of neural tube defects (NTD) and omphaloceles, dark field illumination proved to be more efficient than epi‐illumination or dithio‐oxamide staining. In one case of another congenital defect, we obtained a positive result with dark field illumination, and a negative one with the other detection methods. It is concluded that dark field illumination was shown to be the most sensitive method for the detection of precipitation bands.
AFP transport across the fetal membranes in the human
Authors: Los F. J. , De Bruijn H. W. A. , Van Beek Calkoen‐Carpay T. , Huisjes H. J.
Published: March 2007

In this investigation the original observation of a correlation between the concentration of amniotic fluid albumin and maternal serum alpha fetoprotein (AFP), as a proof for amniotic fluid‐derived AFP in the maternal compartment is confirmed at 15 and 16 weeks of gestation. In contrast to the earlier reported highly significant relation in this study the correlation is only weak, especially at 15 weeks. This might be in agreement with a more frequent absence of raised maternal serum AFP levels in cases of raised amniotic fluid AFP levels prior to 16 weeks of gestation. Transamniotic AFP transport contributes a minor part of the AFP present in the maternal compartment, as also indicated by the lack of correlation between AFP concentrations in amniotic fluid and maternal serum.
Prenatal diagnosis of trisomy 21 and X/XX sex chromosome mosaicism
Authors: McCorquodale Maureen M. , Cummins Theresa , Furlong Judith
Published: March 2007

Double aneuploidy involving Down syndrome and Turner syndrome is a rare chromosomal abnormality presumed to occur with a frequency of about 1 in 2 million births. Twenty‐one cases of this combined anomaly have been reported and two infants were born with this anomaly after a mistake in prenatal diagnosis. We report the first prenatal diagnosis of Down syndrome combined with Turner mosaicism and suggest that this polysyndrome may be more common than previously estimated. We, therefore, wish to alert cytogenetic laboratories performing prenatal diagnoses of the potential risks of misdiagnosis of this polysyndrome if banding is not performed and if a sufficient number of mitotic cells are not analysed.
Reduction of sera requirements in amniotic fluid cell culture
Authors: Chang Hsiao‐Chen , Jones Oliver W.
Published: March 2007

Reduction in serum requirement for culture of primary human amniotic fluid cells can be achieved by the addition of 10 growth‐promoting factors to the nutrient medium. This supplemented medium preserves cell types normally found in amniotic fluid cell cultures supplemented with 20–30 per cent fetal bovine serum. The volume of amniotic fluid required to initiate culture can be as little as 1 ml. Amniotic fluid samples contaminated with red blood cells with no visible clot also grow well in the low serum medium. Cell‐free amniotic fluid combined with equal parts of supplemented medium is useful in initiating cell culture.
Persistently elevated AFP and AChE in amniotic fluid from a normal fetus following demise of its twin
Authors: Bass Harold N. , Oliver Joan B. , Srinivasan Murali , Petrucha Ruth , Ng Won , Lee Jo Ellen S.
Published: March 2007

Intrauterine fetal demise (IUFD) in one of twins at 12 weeks of gestation was accompanied by markedly elevated maternal serum alpha‐fetoprotein (AFP) at 17 and 18 weeks. Amniotic fluid AFP from the healthy surviving twin's sac at 18·5 and 23 weeks was also greatly increased along with a positive acetylcholinesterase (AChE) band. Persistently elevated AFP and positive AChE so long after fetal demise–‐6·5 and 11 weeks post IUFD–‐has not, to our knowledge, been previously described. In similar cases, high level ultrasound and careful placental examination at birth should be utilized to search for fetal abnormalities or multiple pregnancy with IUFD.
First trimester diagnosis of β‐thalassaemia in a twin pregnancy
Authors: Monni Giovanni , Rosatelli Cristina , Falchi Angela M. , Scalas Maria T. , Addis Maria , Maccioni Liliana , Tucci Anna Di , Tuveri Teresa , Cao Antonio
Published: March 2007

This paper reports the results of first trimester prenatal diagnosis in a twin pregnancy at risk for homozygous β°−thalassaemia (β°−39 mutant). Trophoblast samples from both twins were obtained at 10 weeks gestation with a forceps guided by ultrasound. Trophoblast DNA analysis, carried out with the oligonucleotide technique, revealed that one fetus was homozygous and the other heterozygous for the β−39 mutant. This diagnosis was confirmed at 17 weeks gestation by amniocyte DNA analysis. DNA polymorphism analysis within the α‐globin gene provided useful genetic markers for twin differentiation.
The prenatal detection of a familial pericentric inversion of chromosome 19
Authors: Couzin David A. , Watt Jessie L. , Stephen Gordon S.
Published: March 2007

A familial pericentric inversion of chromosome 19 was detected prenatally in a young primagravida. As far as the authors are aware there are no previous published reports of this rare abnormality being ascertained in this manner. The problems of counselling such a family are considered.
modifications of ultradian and orcadian rhythms of fetal heart rate after fetal‐maternal adrenal gland suppression: A double blind study
Authors: Arduini D. , Rizzo G. , Parlati E. , Giorlandino C. , Valensise H. , Del'Acqua S. , Romanini C.
Published: March 2007

In order to verify whether fetal and maternal adrenal gland suppression induces effects on fetal behaviour, triamcinolone was administered to five healthy pregnant women at 35 weeks of gestation. Five patients of the same gestational age were used as control. Fetal heart rate (FHR) and fetal movements were recorded continuously over 2‐h interval by means of cardiotocography. After 3 weeks (38 weeks of gestation) the recordings were repeated without drug administration. Cortisol, adrenocorticotropin hormone, 17 β‐estradiol and unconjugated estriol were measured at the same time every 2 h in maternal peripheral plasma. At 35 weeks we found a loss of circadian rhythms of the hormones investigated and modifications of ultradian and circadian patterns of FHR in the treated group with respect to the control. No differences in hormonal and biophysical parameters were found between the two groups after the end of treatment (38 weeks). These data suggest that the inhibition of fetal and maternal adrenal glands could cause modifications of FHR patterns.
Fetal intestinal microvilli in human amniotic fluid
Authors: Potier Michel , Cousineau Jocelyne , Michaud Lorraine , Zolinger Max , Melançon Serge B. , Dallaire Louis
Published: March 2007

The intestinal microvilli of fetal origin in human amniotic fluid were purified by Ca2+ precipitation of contaminating organelles followed by differential centrifugation of microvillar membranes. In the purified preparation, the specific activity of the microvillar marker‐enzymes maltase and sucrase increased about 77‐fold over that in cell‐free amniotic fluid. Significant contamination of the purified preparation by endoplasmic reticulum (microsomes) and lysosomes was ruled out on the basis of a low content of the marker enzymes glucose‐6‐phosphatase (microsomes) and acid phosphatase (lysosomes). Amniotic fluid microvilli contain typical enzymes of the fetal intestine including maltase, sucrase, trehalase, alkaline phosphatase and γ‐glutamyltransferase, and their morphology by electron microscopy resembles that of vesiculated intestinal microvilli. Prenatal detection of genetic diseases due to a deficiency of a protein expressed in these membranes or associated to abnormal microvilli seems feasible.
Prenatal diagnosis and confirmation of infantile sialic acid storage disease
Authors: Vamos E. , Libert J. , Elkhazen N. , Jauniaux E. , Hustin J. , Wilkin P. , Baumkötter J. , Mendla K. , Cantz M. , Strecker G.
Published: March 2007

Amniocentesis was performed in a pregnancy at risk for infantile sialic acid storage disease. Greatly elevated levels of free sialic acid were found in cell‐free amniotic fluid as well as in cultured amniotic cells from the fetus at risk. After incubation of the cultured amniocytes with fetuin labelled in its sialic acid moiety, pulse and chase experiments respectively showed accumulation and impaired release of TCA‐soluble radioactive material in the amniotic cells at risk. These data thus clearly indicated that the fetus was affected. After pregnancy termination, ultrastructural studies of fetal organs and placenta showed a generalized storage picture characterized by clear membrane‐bound inclusions. The diagnosis was further confirmed by the finding of greatly increased amounts of free sialic acid in fetal organs and cultured fibroblasts.
Prenatal diagnosis of classical phenylketonuria by linked restriction fragment length polymorphism analysis
Authors: Speer A. , Bollman R. , Michel A. , Neumann R , Bommer Ch. , Hanke R. , Riess O. , Cobet G. , Coutelle Ch.
Published: March 2007

Since the isolation of a recombinant containing a cDNA sequence for human phenylalanine hydroxylase (hPH) (Woo et al., 1983; Speer et al., 1986) prenatal diagnosis by linked restriction fragment length polymorphism (RFLPs) has become possible for families in which phenylketonuria (PKU) occurs (Lidsky et al., 1985a). We describe here the application of a Hind III three‐allele RFLP in a single family, which allowed the prenatal diagnosis of an affected fetus.