bluuebunny/crossref_metadata_2025 huggingface dataset:
Early amniocentesis: Experience of 222 consecutive patients, 1987–1988
Authors: Nevin J. , Nevin N. C. , Dornan J. C. , Sim D. , Armstrong M. J.
Published: March 2007

Early amniocentesis from 9 to 14 weeks' gestation provides a safe and accurate method of prenatal diagnosis of cytogenetic and biochemical disorders. There was a 100 per cent success rate in culturing the amniotic cells from 222 samples obtained between 9 and 14 weeks' gestation. Follow‐up of the patients to delivery revealed an abortion rate of 1·4 per cent. Among the 207 live‐ and stillborn infants, only one had a congenital abnormality (bilateral talipes equino‐varus) and no infant had respiratory distress syndrome or pneumonia. Eleven pregnancies were terminated following the detection of a chromosomal, biochemical, or congenital abnormality (5·0 per cent). However, before the procedure of early amniocentesis becomes routine clinical practice, it requires appraisal by a randomized clinical trial.
Prenatal diagnosis of morquio disease type a using a simple fluorometric enzyme assay
Authors: Zhao H. , Van Diggelen O. P. , Thoomes R. , Huumans J. , Young E. , Mazurczak T. , Kleijer W. J.
Published: March 2007

A new fluorogenic substrate, 4 methylumbelliferylβ‐D‐6‐sulphogalactoside, was used for the assay of galactose‐6‐sulphate sulphatase activity in chorionic villi, cultured villus cells, and amniocytes. The fluorometric assay is much more convenient than the conventional assay using radiolabelled, sulphated oligosaccharides. Both types of substrate were used in the prenatal diagnosis of three pregnancies at risk for Morquio type A disease using amniocytes. These enzyme tests, as well as electrophoresis of glycosaminoglycans in the amniotic fluid, indicated affected fetuses in two pregnancies and a non‐affected fetus in one.
The predictive value of cytogenetic diagnosis after CVS: 1500 cases
Authors: Breed A. S. P. M. , Mantingh A. , Beekhuis J. R. , Kloosterman M. D. , Bolscher H. Ten , Anders G. J. P. A.
Published: March 2007

The cytogenetic results of 1500 chorionic villus samples (CVS) are presented. In these 1500 samples, 23 samples (1·5 per cent) could not be provided with a diagnosis because of laboratory failure. This failure rate dropped from 3 per cent in the first 500 samples to 0·2 per cent in the last 500. In the remaining 1477 samples, 58 (3·9 per cent) chromosomal aberrations were found. Of these, 21 (36 per cent) proved not to represent the karyotype of the fetus proper. Predictive values of (different groups of) chromosomal aberrations in CVS are calculated. The impact of (differences between) the predictive value for some major chromosomal aberrations is discussed. A tissue‐ and chromosome‐specific selection mechanism is postulated.
Robinow's syndrome: Prenatal diagnosis
Authors: Loverro G. , Guanti G. , Caruso G. , Selvaggi L.
Published: March 2007

The prenatal diagnosis of Robinow' s syndrome was accomplished in our case by measuring the length of the long bones and the ulna/humerus ratio. Although the prenatal sonographic appearance did not show the typical 8‐week fetal face, pathological findings confirmed this particular feature. In view of the strongly suggestive family history, the authors consider the possible mechanisms of genetic inheritance.
Early sonographic diagnosis of body stalk anomaly
Authors: Jauniaux Eric , Vyas Sanjay , Finlayson Caroline , Moscoso Gonzalo , Driver Marie , Campbell Stuart
Published: March 2007

Ultrasonographic features of a fetus at 18 weeks of gestation suggesting a body stalk anomaly are presented. These included a large abdominal anterior wall defect in apparent continuity with the placenta, severe kyphoscoliosis of the lower spine, the absence of one kidney, and a very short umbilical cord with only one umbilical artery. The amniotic fluid was reduced and the fetus was almost immobile at short‐interval ultrasound examinations. The pregnancy was terminated and autopsy of the fetus showed abnormalities compatible with maldevelopment of both cephalic and caudal embryonic folds.
A pitfall in the prenatal diagnosis of Lesch‐Nyhan syndrome by chorionic villus sampling
Authors: Page Theodore , Broock Robyn L.
Published: March 2007

The ratio of the activities of catabolic enzymes such as 5′‐nucleotidase and purine nucleoside phosphorylase to that of hypoxanthine‐guanine phosphoribosyltransferase (HPRT) may be much higher in frozen or cultured chorionic villus cells than in cultured amniotic fluid cells, cultured fibroblasts, or red blood cells. Consequently, unless these catabolic activities are controlled the observed activity of HPRT may be greatly decreased, and a false diagnosis of Lesch‐Nyhan syndrome may result. For a reliable diagnosis, the reaction products of HPRT must be protected from catabolism.
‘Late CVS’ international registry compilation of data from 24 centres
Authors: Holzgreve W. , Miny P. , Schloo R.
Published: March 2007

Data on 2058 late CVS cases, i.e., placental biopsies after 12 completed weeks of pregnancy, were collected from 24 centres. Two major groups of indications with or without ultrasound findings suspicious of fetal chromosomal abnormalities can be differentiated. In the first group, the rates of cytogenetic anomalies (21 per cent) and fetal losses (10 per cent) are high. The respective figures for the low‐risk group are 6 per cent for chromosome anomalies and 2 per cent for total fetal losses. To evaluate this rapidly spreading new method further, more data are required and will be collected by the CVS registry based in Philadelphia, U.S.A.
Prenatal detection of non‐cardiac rhabdomyosarcoma
Authors: Hart P. S. , Bodurtha J. , Redwine F. O. , Smeltzer J. S. , Kucera L. , McCall J. B. , Brown J. A.
Published: March 2007

The most prevalent soft tissue tumour in children is rhabdomyosarcoma. These tumours may develop within or outside of muscle anywhere in the body and at any age. We report what is apparently the earliest case of non‐cardiac rhabdomyosarcoma detected prenatally.
Fetal cystic hygromata: Insights gained from fetal blood sampling
Authors: Tannirandorn Yuen , Nicolini Umberto , Nicolaidis Peter C. , Fisk Nicholas M. , Arulkumaran Sabaratnam , Rodeck Charles H.
Published: March 2007

Twelve second‐trimester fetuses with cystic hygroma underwent fetal blood sampling for rapid karyotyping, haematologic evaluation, and blood gas analysis. An abnormal karyotype was found in seven cases: monosomy X in five, trisomy 21 in one, and trisomy 13 in the other. Eight often fetuses undergoing blood gas analysis showed hypoxaemia, five of which were growth‐retarded. Nine pregnancies were terminated. Of the remaining three, only one fetus survived the perinatal period.
Prenatal diagnosis of Conradi's syndrome. CASE REPORT
Authors: Tuck S. M. , Slack J. , Buckland G.
Published: March 2007

A case is described of the diagnosis by ultrasound scanning during the second trimester of Conradi‐Hünermann' s syndrome (asymmetrical rhizomelic limb shortening or chondro‐dysplasia calcificans punctata). The prenatal diagnosis of limb shortening deformities is discussed.
Prenatal diagnosis of a left ventricular aneurysm
Authors: Gembruch U. , Steil E. , Redel D. A. , Hansmann M.
Published: March 2007

In a fetus with ventricular extrasystoles a congenital aneurysm of the left ventricle was diagnosed prenatally. At 32 weeks of gestation, echocardiography showed a large apical left ventricular aneurysm with a thin, hypokinetic wall. Congestive heart failure did not occur. Prenatal and postnatal examinations did not detect the aetiology of the aneurysm, but excluded the majority of possible causes. The 2‐year‐old child is now asymptomatic and normally developed. Neither medication nor surgical treatment have been necessary, except for antithrombotic prophylaxis with low‐dose aspirin.
Prenatal diagnosis of aortic atresia by colour doppler flow mapping
Authors: Gembruch Ulrich , Chatterjee Molly , Bald Rainer , Eldering Gerd , Göcke Helga , Urban Andreas E. , Hansmann Manfred
Published: March 2007

A case of aortic atresia with insufficiency of mitral valve diagnosed prenatally at 33 weeks of gestation is presented. An accurate diagnosis of this fetal cardiovascular malformation was possible by application of Doppler colour flow mapping, which demonstrated (a) the absence of forward flow in the hypoplastic ascending aorta, (b) reverse flow of blood from the ductus arteriosus into the severely hypoplastic ascending aorta in the late systole, (c) pansystolic mitral valve regurgitation, and (d) absent flow across the foramen ovale as a result of premature closure of the foramen ovale.
Prenatal diagnosis of mucolipidosis type II on first‐trimester amniotic fluid
Authors: Poenaru Livia , Mezard Christine , Akli Said , Oury Jean‐François , Dumez Yves , Boue Joëlle
Published: March 2007

We investigated the possibility of prenatal diagnosis of mucolipidosis type II (ML II) by lysosomal enzyme determination on amniotic fluid obtained at 11 weeks of gestation in three pregnancies at risk.

Diagnosis of ML II was made in one case on the basis of increased levels of five lysosomal enzymes tested. The diagnosis was confirmed on cultured chorionic cells, their cultured medium, 17–week amniotic fluid, and fetal plasma obtained for confirmation prior to the termination of pregnancy.
DNA polymorphism and globin chain analysis in the prenatal diagnosis of β‐thalassaemia major in Taiwan
Authors: Ko Tsang‐Ming , Hsieh Fon‐Jou , Lee Tzu‐Yao
Published: March 2007

Thirty‐six pregnancies in 25 families at risk of β‐thalassaemia major received prenatal diagnosis. Chorionic villus sampling or amniocentesis was done in 35 pregnancies to obtain fetal cells for DNA linkage study, for which Southern blotting and DNA hybridization were used to detect seven restriction fragment length polymorphisms (RFLPs) within the β‐globin gene cluster: ϵ‐HincII, Gγ‐HindIII, Aγ‐HindIII, Φβ‐HincII, 3′Φβ‐HincII, β‐AvaII, and 3′β BarnHI. β‐Thalassaemia major was diagnosed in seven and excluded in 22 pregnancies. In the remaining six cases, β‐thalassaemia major could not be excluded. In these six pregnancies and another one with late booking, ultrasound‐guided cordocentesis was performed at the 22nd to 27th week of gestation. Globin chain composition was determined with urea‐acetic acid‐Triton X‐100‐12 per cent polyacrylamide gel electrophoresis. β‐Thalassaemia major was diagnosed in two fetuses and excluded in the other five. Eleven fetuses (in which β‐thalassaemia major was excluded) have been delivered and are healthy at more than 5 months old DNA linkage analysis coupled with globin chain electrophoresis provides an effective way for prenatal diagnosis of β‐thalassaemia major, although these methods are being replaced by more direct detection techniques using oligonucleotide probes.
Patients' attitudes following chorionic villus sampling
Authors: McCormack Michael J. , Rylance Margaret E. , Mackenzie William E. , Newton John
Published: March 2007

The attitudes of 190 patients who had undergone chorionic villus sampling (CVS) were assessed by means of a questionnaire. One hundred and fifty‐two patients replied of whom 68 (45 per cent) were referred because of increased maternal age and in the other 84 cases the indications included previous chromosomal abnormalities, fetal sexing, DNA analysis, and biochemical analysis. One hundred and twenty‐two patients had a transcervical procedure, 24 had a transabdominal, and six patients required both procedures. One hundred and forty‐one patients (93 per cent) reported CVS to be a satisfactory procedure, and the same percentage thought earlier diagnosis was beneficial. Thirty‐nine patients (81 per cent) reported a better experience with CVS than with a previous amniocentesis. A majority of patients (93 per cent) wished a CVS in a future pregnancy and 137 patients (97 per cent) would accept a risk of miscarriage from the procedure of twice that quoted for amniocentesis (1 per cent).
Prenatal diagnosis of Löwe'S syndrome: A case report with evidence of de novo mutation
Authors: Gazit E. , Brand N. , Harel Y. , Lotan D. , Barkai G.
Published: March 2007

A case of oculocerebrorenal (Löwe) syndrome is presented in which analysis of the pattern of RFLP suggested that the gene originally mutated in the grandfather' s X‐chromosome and became clinically apparent in one of his male grandsons.
Prenatal diagnosis of inherited metabolic disorders by quantitation of characteristic metabolites in amniotic fluid: Facts and future
Authors: Jakobs C. , Brink H. J. Ten , Stellaard F.
Published: March 2007

An attempt is made to summarize as completely as possible what is known about the prenatal diagnosis of amino– and organic acidurias by direct measurement of characteristic metabolites in amniotic fluid, and to indicate which disorders can potentially be diagnosed prenatally by direct quantitation of metabolites. Furthermore, the disorders are mentioned in which the prenatal diagnosis was proven to be unsuccessful by this approach. The prenatal diagnoses of a case of propionic acidemia and a case of tyrosinemia type I in the 11th and 12th week of gestational age, respectively, are reported and the prospects of performing amniocentesis in the first trimester for prenatal diagnosis are discussed.
Prenatal detection of an Arg→Ter mutation at codon 111 of the pah gene using DNA amplification
Authors: Huang Shu‐Zhen , Zhou Xia‐Di , Ren Zhao‐Rui , Zeng Yi‐Tao , Woo SavioL. C.
Published: March 2007

A CGA→TGA mutation at codon 111 in exon 3 of the phenylalanine hydroxylase (PAH) gene was recently identified in a Chinese phenylketonuria (PKU) patient. This paper reports the prenatal diagnosis of a Chinese fetus at risk for PKU using DNA amplification with PCR and oligonucleotide hybridization. RFLP analysis revealed that the fetus had inherited a PKU gene from his mother, but his paternal PAH gene was uninformative. PCR amplification of 300 bp which included exon 3 plus the flanking intronic sequences of the PAH gene was performed. The amplified DNA was hybridized with a pair of allele‐specific oligonucleotide probes. The results indicated that the fetal DNA carried a PAH 111 Arg→Ter mutant gene inherited from his father. Thus, the fetus was predicted to be affected with PKU.
Exclusion of β‐thalassaemia by biopsy and DNA amplification in mouse pre‐embryos
Authors: Lindeman R. , Lutjen J. , O'Neill C. , Trent R. J.
Published: March 2007

Exclusion of β‐thalassaemia in mice was undertaken by pre‐implantation DNA diagnosis. Biopsies of approximately five cells were obtained from mouse pre‐embryos. DNA prepared from this material was amplified by the polymerase chain reaction (PCR), enabling identification of the normal β‐major globin gene in 11 out of 20 cases where it was known to be present. The expected negative result was obtained in 14 out of 16 homozygous thalassaemic embryos, with two false positives. Results are promptly available following PCR, thereby facilitating re‐implantation of embryos which have had homozygous β‐thalassaemia excluded. The mouse model illustrates a useful approach to pre‐implantation diagnosis of genetic disease in the human.
Transabdominal villus sampling in early second trimester: A safe sampling method for women of advanced age
Authors: Jahoda M. G. J. , Pijpers L. , Reuss A. , Brandenburg H. , Cohen‐Overbeek T. E. , Los F. J. , Sachs E. S. , Wladimiroff J. W.
Published: March 2007

Transabdominal chorionic villus sampling (TA‐CVS) was performed in 707 viable singleton pregnancies to exclude chromosomal abnormalities. Maternal age ranged between 36 and 49 years (mean 37·9 years); gestational age varied between 10·2 and 18·3 weeks (mean 13·3 weeks). In 639 women (90·4 per cent), a sufficient amount of chorionic tissue (⩾ 10 mg) was obtained after one needle insertion; in 66 women (9·3 per cent) two insertions were needed. An abnormal chromosome pattern was established in 19 cases (2·9 per cent). Vaginal bleeding or spotting within 28 days after TA‐CVS occurred in 11 cases (1·5 per cent). The completed follow‐up of 678 chromosomally normal pregnancies showed an overall fetal loss rate of 2·6 per cent before 28 weeks. The overall perinatal mortality was 0·9 per cent. When relating fetal loss to gestational age at TA‐CVS, this was 6·6 per cent in women sampled before 12 weeks against only 1·8 per cent after 12 weeks. At the same time, the percentage of fetal loss occurring within 2 weeks following the procedure was 75 and 30 per cent, respectively. It is suggested that these data reflect the decline in spontaneous abortion rate during this particular period of pregnancy. It is concluded that TA‐CVS is an effective procedure which, when performed after the natural decrease of fetal loss, appears to be a safe option for women of advanced maternal age.
Socio‐cultural inequities in access to prenatal diagnosis: The role of insurance coverage and regulatory policies
Authors: Moatti J. P. , Le Gales C. , Julian C. , Durbec J. P. , Mattei J. F. , Ayme S.
Published: March 2007

The article presents the results of a 4‐month‐period survey by questionnaire among all women attending the Marseille Centre for Prenatal Diagnosis for amniocentesis. Socio‐cultural status of women getting access to amniocentesis is significantly higher than in the general population of pregnant women in the same geographic area of south‐eastern France. Sociocultural status is also higher among women who have to cover costs of procedure to get access to amniocentesis than among those who benefit from it free‐of‐charge according to French Social Security regulations. In contrast, risk perception and attitudes toward termination of pregnancy are similar in these two groups. A total of 24·4 per cent of respondents declared that they got access to amniocentesis ‘on their own initiative’, the remaining 75·6 per cent declaring that they ‘were following medical advice’. Multidimensional analysis shows that the women who do not benefit from free‐of‐charge amniocentesis, and who have a high level of education and no antecedents of fetal and perinatal deaths, are more likely to perceive themselves as ‘self‐referring’. The study indicates that institutional coverage may be effective in reducing socio‐cultural inequities in access to prenatal diagnosis. But such a policy may conflict with the respect of women' s individual autonomy in the amniocentesis decision.
Prenatal diagnosis and postnatal follow‐up of a child with two de novo unrelated balanced reciprocal translocations
Authors: Pruggmayer M. , Zoll B. , Leipoldt M. , Thies U.
Published: March 2007

Two unrelated, apparently balanced, reciprocal translocations involving chromosomes 3 and 17, and 10 and 15 were found in cultured amniotic fluid cells from a 41‐year‐old 10‐gravida. Chromosome analysis of peripheral blood lymphocytes of both parents revealed normal katryotypes. Post‐partum examination of lymphocyte cultures from the proband confirmed the chromosome rearrangements. The child showed normal development during follow‐up examinations up to the age of 4 years.
Immunocytochemical localization of peroxisomal β‐oxidation enzymes in human fetal liver
Authors: Espeel M. , Jauniaux E. , Hashimoto T. , Roels F.
Published: March 2007

In the majority of congenital peroxisomal disorders, β‐oxidation of very long chain fatty acids is deficient. We have investigated the appearance and localization of the three peroxisomal β‐oxidation enzymes in normal fetal liver (fertilization age between 5 and 18 weeks) with protein A‐ gold immunocytochemistry and silver enhancement for light microscopic visualization. With specificity‐tested polyclonal antibodies, acyl‐CoA‐oxidase, bifunctiooal enzyme, and 3‐oxoacyl‐CoA thiolase were localized in the peroxisomes of the parenchymal cells, which appear as brown or black granules. In the youngest specimen, no immunopositive reaction was obtained. A weak reaction with anti‐thiolase was obtained at the age of 6–7 weeks. At a fertilization age of 8 weeks, peroxisomes could be distinctly visualized after immunostaining for all three enzymes.

From a staining series with anti‐thiolase on simultaneously treated slides, it appears that the amount of antigen per peroxisome and the organelle size increase between the seventh and eighteenth weeks. These data should enable a more specific diagnosis in fetal liver biopsies from pregnancies at risk and after termination of pregnancy.
Simultaneous placentacentesis and amniocentesis for prenatal karyotyping: Report on 250 cases
Authors: Gatz G. , Rauskolb R. , Werner L. , Gellert G. , Eiben B. , Bartels I.
Published: March 2007

The efficacy and risks of simultaneous transabdominal chorionic villus biopsy (placentacentesis) and amniocentesis in the second and third trimesters were evaluated in 250 singleton pregnancies. The major indications were advanced maternal age (36·0 per cent), abnormal ultrasound findings (23·2 per cent), and low maternal AFP value (17·6 per cent). Nine abnormal karyotypes were found in placental tissue (3·6 per cent). The karyotypes of placental and amniotic cells were different in three cases, including two cases of false‐positive mosaicism (08 per cent) and one case of a false‐negative result (0·4 per cent) obtained by placental karyotyping. The problem of discrepant karyotypes in embryonic and extra‐embryonic tissue does not seem to be restricted to the first trimester. The post‐procedure fetal loss rate was estimated as approximately 1·8 per cent. We conclude that the procedure presented here combines the advantages of rapid karyotyping (placentacentesis) and high diagnostic reliability (amniocentesis). It does not seem to be necessary to restrict its use to late presentations and suspicious ultrasound findings.
Megacystis‐microcolon‐intestinal hypoperistalsis syndrome in two male siblings
Authors: Carber Ann , Shohat Motti , Sarti Dennis
Published: March 2007

Two male sibs with severe congenital megacystis‐microcolon‐intestinal hypoperistalsis syndrome (MMIHS) are presented. Both had enlarged bladder and hydronephrosis due to reduced bladder emptying, decreased bowel motility, and malrotation of the colon. Repeated careful ultrasound examination of the urinary tract in the second sib failed to show significant bladder enlargement prior to 25 weeks' gestation, which has been considered to be a reliable prenatal diagnostic sign for MMIHS. Slight bilateral enlargement of the renal pelves was noted at 21 weeks' gestation, and this may represent the earliest prenatally‐detectable observation in this disease. Although more females than males with this condition have been reported, our cases provide support for an autosomal recessive mode of inheritance with a similar recurrence risk for both sexes.
A single chorionic gonadotropin assay for maternal serum screening for Down's syndrome
Authors: Muller Françoise , Boué André
Published: March 2007

A simple enzyme immunoassay measuring human chorionic gonadotropin in undiluted maternal serum has been developed in order to be used as a prenatal screening test for Down' s syndrome. A retrospective study of maternal serum sampled during pregnancies associated with trisomy 21 shows that with a 5% amniocentesis rate determined on a single test, the detection rate of trisomy 21 would be around two‐thirds of the affected pregnancies. A prospective study of 9040 pregnant women under 38 years has confirmed the usefulness of the assay.
SPONTANEOUS RESOLUTION OF CYSTIC HYGROMA IN A 46,XX NORMAL FEMALE
Authors: Baccichetti Carlo , Lenzini Elisabetta , Suma Vincenzo , Benini Franca , Marini Alberto
Published: March 2007

We report a case of nuchal cystic hygroma with spontaneous resolution detected by ultrasound examination at 13 weeks' gestation. Fetal karyotype and amniotic fluid alphafetoprotein levels were normal. Extreme caution in evaluating this situation is stressed.
The significance of trisomy 7 mosaicism in chorionic villus cultures
Authors: Reddy K. S. , Blakemore K. J. , Stetten G. , Corson V.
Published: March 2007

Two cases of mosaic trisomy 7 confined to the cultured cells and not found in direct preparation were detected from 200 consecutive first‐trimester chorionic villus samples (CVS) analysed. The mosaicism was similar in the two cases, but the pregnancy outcome was different. In both cases, the direct metaphases from the CVS were 46, XY. Culture metaphases were mos46,XY/47,XY, + 7; the trisomy 7 was seen in 34 per cent of cells from case 1 and 53 per cent from case 2. A sonogram at 151/2 weeks revealed fetal death in utero in case 1, and the patient declined amniocentesis. The fetal tissue failed to grow in culture, but the placental cultured cells were 47,XY, + 7 in 28 (100 per cent) cells analysed. In the second case, all the amniotic fluid cells were 46,XY and the pregnancy resulted in a normal male with a 46,XY karyotype in the cord blood and foreskin fibroblast cultures. The term placenta was mosaic with 13/163 (8 per cent) trisomy 7 cells. Extensive cytogenetic studies on the placenta for the first time confirmed trisomy 7 mosaicism confined to the villus cultures.
Risks of transabdominal chorionic villus sampling before the 12th week of amenorrhea
Authors: Saura R. , Longy M. , Horovitz J. , Grison O. , Vergnaud A. , Taine L. , Maugey B.
Published: March 2007

The authors report on a series of 210 chorion villus sampling diagnoses made with a needle by the transabdominal route. The rate of fetal loss was 4·2 per cent. Placental localization was important: fetal losses were 8 per cent when the placenta was strictly posterior (transamniotic route), whereas it was only 1·6 per cent when it was not posterior. Moreover, all fetal losses occurred (apart from one at 12·5 weeks of amenorrhea) before the 12th week of amenorrhea. The authors suggest that choriocentesis by the transabdominal route should not be performed before the 12th week of amenorrhea, and that the amniotic membrane should not be disturbed before the 13th week of amenorrhea.
Mosaic Isochromosome 20q found on amniocentesis with normal outcome
Authors: Chodirker B. N. , Jenkins R.
Published: March 2007

A case of mosaic isochromosome 20q found on amniocentesis is described. A normal male infant was subsequently born.
Successful intrauterine therapy of a large fetal ovarian cyst
Authors: Giorlandino C. , Rivosecchi M. , Bilancioni E. , Bagolan P. , Zaccara A. , Taramanni C. , Vizzone A.
Published: March 2007

Fetal ovarian cysts can be managed in different ways, depending upon their size and clinical course: conservatively, by open surgery or by postnatal transabdominal puncture.

However, in cases of large cysts detected antenatally and affecting the ongoing pregnancy, in utero transabdominal puncture can be undertaken, without increase of risk.

A case of such a puncture at 30 weeks gestation is reported.
Congenital hereditary hypothyroidism—prenatal diagnosis and treatment
Authors: Hirsch Michael , Josefsberg Zev , Schoenfeld Alexander , Pertzelan Athaliah , Merlob Paul , Leiba Sara , Kohn Gertrude , Ovadia Jardena , Lubin Ernesto , Laron Zvi
Published: March 2007

Intrauterine diagnosis of congenital hypothyroidism was established on the basis of TSH concentration in amniotic fluid in the 22nd week of gestation for the offspring of a couple both known to have an iodide organification defect. Prenatal treatment consisted of intramniotic injections of 500 meg Na‐1‐thyroxine, which was administered from the first amniocentesis until one week before delivery. Following delivery, the diagnosis was confirmed by the elevated level of TSH, 60‐5 uU/ml, and a gradual decrease of fT4 to 0·8 ng/ml. Regular substitution therapy was commenced on the third day of life. The normal shape and location of the thyroid gland was demonstrated by Technetium scintiscan. At 18 months the infant revealed no significant deviation from normalcy in growth or mental capacity. This experience indicates that testing of amniotic fluid for TSH in the 22nd week of gestation can be diagnostic for congenital primary hypothyroidism. Furthermore, it is suggested that the treatment approach described is warranted in all cases in which there is a high risk of congenital primary hypothyroidism.
Patient care before and after termination of pregnancy for neural tube defects
Authors: Mourik M. C. A. White‐Van , Connor J. M. , Ferguson‐Smith M. A.
Published: March 2007

A retrospective study was designed to examine the perception of care in women who had experienced a second‐trimester termination of pregnancy (TOP) for a neural tube defect. Women were identified over a 3‐year period, 1983–1985. After appropriate consent, 166 women were visited at home between 4 weeks and 7 months post‐TOP and interviewed by one experienced interviewer using a structured questionnaire with open and closed questions.

The majority (137, 82 per cent) felt satisfied with the care received during screening, prenatal diagnosis, and during the TOP (126, 76 per cent). Patients were less satisfied (63, 38 per cent) with post‐TOP care in hospital. On leaving hospital, the post‐termination sequelae were mentioned to only 25 (15 per cent) patients, which left 135 (81 per cent) confused and bewildered by the post‐partum reactions of their bodies, and by their strong emotions.

After‐care was perceived as unsatisfactory by 113 (68 per cent). One‐quarter (42, 25 per cent) did not have, and were not invited for, a post‐termination appointment and thus did not have an opportunity to ask questions or to discuss the fetus. Eighty‐six (51‐8 per cent) had no visit from any member of the primary health‐care team, yet most would have appreciated such a visit. Suggestions for improved management are presented.
Sensitivity of chromosomal mosaicism detection by different tissue culture methods
Authors: Richkind K. E. , Risch N. J.
Published: March 2007

In the field of prenatal cytogenetic diagnosis, two tissue culture methodologies are currently in use: the flask method, which examines mixed populations of cells, and the in situ method, which examines distinct colonies of cells. These two methods provide inherently different levels of sensitivity which can be made comparable by adjusting the number of cells examined depending on the methodology used and the number of colonies formed per ml of specimen. Assuming that there are 2 colonies per ml of amniotic fluid in a 20 ml specimen, in order to detect 10, 20, and 30 per cent mosaicism with 95 per cent confidence, 29, 14, and 9 colonies should be examined respectively by the in situ method. Similarly, 50, 17, and 10 cells must be analysed by the flask method.
Intrauterine growth retardation associated with chromosomal aneuploidy confined to the placenta. Three observations: Triple trisomy 6,21,22; trisomy 16; and trisomy 18
Authors: Kennerknecht I. , Terinde R.
Published: March 2007

Cytogenetic analysis in three pregnancies revealed chromosomal mosaicism confined to chorionic villi. They were ascertained in the third trimester by intrauterine growth retardation (IUGR) in otherwise normal fetuses. In case of triple trisomy 6,21,22 and trisomy 16, it was obvious that these findings were most likely restricted to the placenta. These trisomies act as early lethal factors when they occur in the embryo itself. With trisomy 18, however, the interpretation of the cytogenetic finding remains ambiguous. The question arises as to whether an abnormal karyotype may be the cause of placenta insufficiency or is just coincidentally associated.
Maternal smoking habits and Down's syndrome
Authors: Cuckle H. S. , Alberman E. , Wald N. J. , Royston P. , Knight G.
Published: March 2007

Two series of pregnancies were studied to investigate the relationship between maternal smoking and the risk of fetal Down' s syndrome. In the first series, ascertained in the 1960s, in which smoking habits were determined after the outcome of pregnancy was known, the proportion of smokers (47 per cent) among the 461 women whose pregnancies ended in the birth of an infant with Down' s syndrome was similar to that in the 461 controls (46 per cent) who had pregnancies affected by other congenital disorders. In the second series, ascertained between 1973 and 1984, smoking habits were determined by measurement of cotinine in antenatal serum samples that were routinely collected and stored or, if a serum sample was not available, from information in the antenatal notes. In this series, the proportion of smokers (14 per cent) among the 91 women who had pregnancies associated with Down' s syndrome was lower than that among 413 controls (19 per cent), though this was not statistically significant. Collectively, our results provide no evidence for an association between fetal Down' s syndrome and smoking. Other published studies found a deficit of smokers among women who had pregnancies associated with Down' s syndrome. This may be partly due to some studies not taking adequate account of maternal age (older women are more likely to have had a Down' s syndrome pregnancy but are less likely to be smokers) and partly due to the greater tendency for positive findings to be published than negative ones.
Trisomy 12 mosaicism in phenotypically normal fetuses following prenatal detection
Authors: Wyandt Herman E. , Maker Thomas , Fisher Nancy L. , Patil Shivanand R. , Osella Peter , Luthardt Frederick W. , Kawada Charles , Williamson Roger , Milunsky Aubrey
Published: March 2007

We report three cases of amniocentesis in which mosaicism for trisomy 12 was detected in two or more independent cultures. The parents elected to terminate the pregnancy in all three cases. Follow‐up studies in two of the cases confirmed the mosaicism in fetal tissues (in subcutaneous tissue in one case; in fetal lung in the other), but not in blood. No fetal anomalies were evident by ultrasound or at autopsy. These results along with other reported cases demonstrate the difficulty in counselling for mosaic trisomy 12.
First‐trimester maternal serum alpha‐fetoprotein and human chorionic gonadotropin screening for chromosome defects
Authors: Nebiolo Linda , Ozturk Mehmet , Brambati Bruno , Miller Susan , Wands Jack , Milunsky Aubrey
Published: March 2007

The aim of this study was to determine the efficacy of combined maternal serum alpha‐fetoprotein (MSAFP) and maternal serum human chorionic gonadotropin (MShCG) screening in detecting chromosome defects in the first trimester of pregnancy. Sera of 492 women (previously assayed for MSAFP) were analysed for MShCG under code without knowledge of cytogenetic results. Overall, 48 of 492 patients (9·8 per cent) had either an MSAFP multiple of the median ⩽0·5 or an MShCG β/a z ratio multiple of the median ⩽ 0·25, eight of whom had a fetus with a serious chromosome defect. A third of fetuses with Down' s syndrome and 83 per cent with trisomy 18 were detected at a potential‘cost’ of providing chorionic villus sampling or amniocentesis in 8·6 percent of women screened.
Transvaginal chorionic villus sampling
Authors: Sidransky Ellen , Black Susan H. , Soenksen Dawn M. , Jones Shirley L. , Dorfmann Andrew D. , Schulman Joseph D.
Published: March 2007

Chorionic villus sampling (CVS) with either transcervical catheters or transabdominal needles is a widely‐accepted method for prenatal diagnosis. However, there exists a small subset of patients in whom sampling is difficult or impossible with either route because of individual anatomic variations. A new method of chorionic villus biopsy has been developed to circumvent these problems, utilizing transvaginal chorionic needle aspiration guided by an intravaginal ultrasound probe. This technique was performed successfully in 15 patients in whom villi could not be obtained by either of the conventional methods. This method now makes CVS possible in essentially all women regardless of their uterine anatomy or placental placement; it may also prove useful for very early chorionic sampling.
Antenatal ultrasonic diagnosis of dyssegmental dysplasia: A case report
Authors: Izquierdo Luis A. , Kushnir Ori , Aase Jon , Lantz P. , Castellano Teresa , Curet Luis B.
Published: March 2007

Sonographic prenatal diagnosis and management of a pregnancy complicated by dys‐segmental dysplasia of the Silverman‐Handmaker type are presented. This is a documented case of this type of short‐limbed dwarfism presenting in a family of Hispanic‐American ancestry.
Fetal gastroschisis associated with monosomy 22 mosaicism and absent cerebral diastolic flow
Authors: Lewinsky R. M. , Johnson J. M. , Lao T. T. , Winsor E. J. , Cohen H.
Published: March 2007

A case of fetal gastroschisis associated with 45,XY, —22/46.XY mosaicism and absent cerebral diastolic flow is described. This is the third case reported of monosomy 22 mosaicism, and the first one to be diagnosed antenatally.
Discordant findings in chorionic villus direct preparation and long term culture—mosaicism in the fetus
Authors: Schlesinger C. , Raabe G. , Ngo T. , Miller K.
Published: March 2007

Prenatal cytogenetic study of chorionic villi showed a discrepancy between a normal female karyotype 46,XX in the direct preparation after short‐term incubation, and a 45,X karyotype in the long‐term culture. The subsequent amniocentesis revealed a normal karyotype in three cultures and a 45,X/46,XX mosaicism in one culture. Cytogenetic analysis of chorionic villi after termination of the pregnancy showed a normal karyotype in the direct preparation and a 45,X/46,XX mosaicism in the long‐term culture. Fetal lymphocytes showed normal karyotypes, whereas fibroblast cultures revealed a 45,X/46,XX mosaicism.
Cystic fibrosis prenatal diagnosis: Confirmation of an equivocal microvillar enzyme result by direct analysis of the common gene mutation
Authors: Carey W. F. , Nelson P. V. , Raymond S. , Morris C. P.
Published: March 2007

A child was tentatively diagnosed as having cystic fibrosis, based on neonatal presentation with severe gastrointestinal complications; the diagnosis was not confirmed biochemically and no tissues were available for DNA analysis. The mother presented in her subsequent pregnancy, and microvillar enzyme analysis of cell‐free amniotic fluid at both 18 and 20 weeks gestation gave equivocal results. The pregnancy was terminated voluntarily because of a trend towards abnormal enzyme assay results on the second amniocentesis. Retrospectively, fetal tissues were found to be homozygous for the most common mutation of the cystic fibrosis gene (AF508), which confirmed the prenatal assessment and suggested that the first infant of the couple was probably also affected by the disease.
Congenital generalized cystic lymphangiomatosis diagnosed by prenatal ultrasound
Authors: Haeusler Martin C. H. , Hofmann Hans M. H. , Hoenigl Werner , Karpf Eva F. , Rosenkranz W.
Published: March 2007

We describe a previously unknown congenital abnormality of the lymphatic system, characterized by multiple cystic lesions of the lower extremities and thorax. Diagnosis was made by ultrasound in the second trimester. The ultrasound findings, pathology results, and differential diagnosis are presented.
Chorioangioma: A new inclusion in the prospective and retrospective evaluation of elevated maternal serum alpha‐fetoprotein
Authors: Thomas Ronald L. , Blakemore Karin J.
Published: March 2007

Two cases are presented which illustrate the association of elevated maternal serum alpha feteprotein (MSAFP) levels and chorioangiomas. These cases emphasize the importance of ultrasound study of the placenta in MSAFP elevation evaluation. In addition, placentas from pregnancies with otherwise unexplained MSAFP elevations should be submitted for pathologic study. A definitive retrospective diagnosis may thus be provided.
Prenatal diagnosis of ventricular septal defect and overriding aorta at 14 weeks' gestation, using trans vaginal sonography
Authors: Bronshtein Moshe , Siegler Efraim , Yoffe Nechemia , Zimmer Etam Z.
Published: March 2007

Two fetuses with heart abnormalities were detected by transvaginal sonography at 14 weeks of gestation. In the first fetus, a ventricular septal defect and an overriding aorta were detected and a diagnosis of tetralogy of Fallot was suggested. In addition, cystic hygroma and omphalocoele were visualized and the cytogenetic study revealed trisomy 18. In the second fetus, ventricular septal defect, pericardial effusion, and omphalocoele were detected.
Dystrophin protein and rflp analyis for fetal diagnosis and carrier confirmation of duchenne muscular dystrophy
Authors: Boelter William D. , Burt Beth Ann , Spector Elaine B. , Hinton David R. , Pavlova Zdena , Fujimoto Atsuko
Published: March 2007

A pregnant woman with indeterminate Duchenne muscular dystrophy (DMD) carrier status, but with DMD diagnosed in her deceased brother (unavailable for study), presented for prenatal diagnosis, intending to continue the pregnancy only if proven unaffected with DMD with near absolute certainty. Creatine kinase (CK) assays to clarify carrier status were inconclusive. Male sex in the fetus was identified, but DNA restriction fragment length polymorphism (RFLP) analysis was not yet available to this centre to investigate the possible transmission of the DMD gene, and the pregnancy was terminated. Tissue histology and dystrophin protein analysis demonstrated the absence of DMD. In a situation with proven maternal carrier status, future fetal inheritance of the opposite maternal X chromosome would indicate the presence of DMD. However, maternal carrier status remained in doubt through a second pregnancy, even with RFLP studies, and was finally established when dystrophin analysis confirmed the presence of DMD in the second fetus. Histologic findings are presented, contrasting features in the two fetuses. The value of dystrophin analysis for establishing the diagnosis of fetal DMD, in this case proving maternal carrier status in a difficult situation, and for demonstrating DMD gene:RFLP haplotype relationships is illustrated.
Detection and enumeration of colonic mucosal cells in amniotic fluid using a colon epithelial‐specific monoclonal antibody
Authors: Chitayat David , Marion Robert W. , Squillante Linda , Kalousek Dagmar K. , Das Kiron M.
Published: March 2007

Since its introduction, prenatal diagnosis of chromosomal and metabolic disorder by mid‐trimester amniocentesis has relied upon the use of a mixture of fetal cells obtained from amniotic fluid. Little knowledge has been gained in the sorting of these cells for diagnosis of tissue‐specific disorders. In an attempt to determine the contribution of fetal colonic mucosal cells to the overall amniocyte population, we used the colonic epithelial‐specific monoclonal antibody (MC‐Ab) 7E12H12, IgM isotype. Specimens of the small intestine, colon, buccal mucosa, kidney, urinary bladder, and umbilical cord were obtained from electively aborted normal fetuses of 12–28 weeks' gestation. All of these specimens were examined with 7E12H12 by the immunoperoxidase technique. The MC‐Ab reacted with the colonic epithelial cells but not with any of the other tissues. In addition, 40 amniotic fluid samples obtained from women between 16 and 18 weeks of gestation, who underwent amniocentesis because of advanced maternal age, were tested using a fluorescent activated cell sorter. Among the amniotic fluid specimens examined, 18·4 ± 10·3 percent cells reacted with 7E12H12. Double immunofluorescence studies revealed that all Mc‐Ab‐stained cells contained secretory component, confirming that they were epithelial in origin. All fetuses whose amniotic fluid was analysed had normal karyotypes and amniotic fluid alpha‐fetoprctein levels that were also normal. This study demonstrates that cell‐specific Mc‐Ab can be used to detect colon cells in the amniotic fluid and that colon cells contribute significant numbers in the mixture of amniotic fluid cells. This technique could be helpful in the prenatal diagnosis of disorders in which the flow of amniotic fluid through the fetal intestine is impaired, such as cystic fibrosis, imperforate anus, Hirschsprung aganglionic megacolon, and intestinal atresia.
Second‐trimester levels of maternal serum unconjugated oestriol and human chorionic gonadotropin in pregnancies affected by fetal anencephaly and open spina bifida
Authors: Canick Jacob A. , Knight George J. , Palomakij Glenn E. , Haddow James E.
Published: March 2007

Unconjugated oestriol (uE3) and human chorionic gonadotropin (hCG) levels were determined in second‐trimester maternal serum (MS) samples from 21 pregnancies associated with fetal anencephaly and 15 pregnancies associated with fetal open spina bifida. Each measurement was expressed as a multiple of the median (MoM) for unaffected pregnancies for each completed week of gestation. In pregnancies associated with anencephaly, the median value for MSuE3 was very low (0–17 MoM, range <0·12–0·33 MoM), suggesting a functional defect in the fetal adrenal prior to 20 weeks' gestation; the median value for MShCG was also low (0–73 MoM), although not to the same extent as for MSuE3. A biological explanation for the hCG result is not apparent. In pregnancies associated with open spina bifida, the MSuE3 and MShCG values were unremarkable, consistent with a lack of involvement of these open fetal defects in the synthesis and secretion of uE3 and hCG.
Prenatal diagnosis of an intra‐abdominal sacrococcygeal teratoma
Authors: Morrow Robert J. , Whittle Martin J. , McNay Margaret B. , Cameron Alan D. , Raine Peter A. M. , Gibson Angus A. M.
Published: March 2007

The prenatal diagnosis of a presacral (type IV) sacrococcygeal teratoma (SCT) is described. The initial ultrasound appearance was suggestive of a lower urinary tract obstruction, but further ultrasonic examination and radiological imaging using contrast medium led to the diagnosis of SCT. This is the first prenatal diagnosis of a totally intra‐abdominal SCT.
Trisomic pregnancies have normal human chorionic gonadotropin bioactivity
Authors: Kratzer Paul G. , Golbus Mitchell S. , Finkelstein David E. , Taylor Robert N.
Published: March 2007

Sera from women carrying either chromosomally normal or aneuploid fetuses in the first half of pregnancy were assayed for human chorionic gonadotropin (hCG) bioactivity in order to determine whether differences might provide the basis for a useful antenatal screen for aneuploidy. A mouse uterine weight assay was used to assess hCG bioactivity in sera from 35 patients undergoing chorionic villus sampling (12 normal pregnancies and 23 trisomic pregnancies) and in sera from 18 patients undergoing elective second‐trimester abortion (12 presumed normal pregnancies, 3 trisomic pregnancies, and 3 pregnancies with neural tube defects). The hCG bioactivity to immunoactivity (B:I) ratio of normal pregnancies progressively decreased from 7.7±1.3 at 4–5 menstrual weeks, to 4.7±0.4 at 9–12 menstrual weeks, to 3.3±0.5 at 16–20 menstrual weeks. There were no significant differences in the B:I ratios between normal and aneuploid pregnancies in either the first‐trimester (4.7±0.4 versus 5.2±0.3) or the second‐trimester samples (3.3±0.5 versus 2.6±0.3), despite significantly greater hCG concentrations in the trisomic pregnancies. We conclude that while aneuploid pregnancies display dysfunctional regulation of hCG expression, the bioactivity of their hCG is normal and does not appear to form the basis for a useful screen for aneuploidy.
Women's choices for fetal chromosome analysis
Authors: Abramsky Lenore , Rodeck C. H.
Published: March 2007

Five hundred and eighty women aged 35 or more at the expected date of delivery were offered the chance to join the MRC trial comparing CVS and amniocentesis at Queen Charlotte's Hospital. After a 1 h non‐directive counselling session, they were asked to choose between having no test, having amniocentesis, or joining the trial in the hopes of having CVS (or in some cases having CVS outside the trial). The majority of women chose to have some test, and CVS was a more popular choice than amniocentesis.