bluuebunny/crossref_metadata_2025 huggingface dataset:
Prenatal diagnosis of Pompe's disease (type ii glycogenosis) in chorionic villus biopsy using maltose as a substrate
Authors: Park Hae K. , Kay Helen H. , McConkie‐Rosell Allyn , Lanman Joe , Chen Yuan‐Tsong
Published: March 2007

Uncultured trophoblasts obtained from chorionic villus biopsy during the gestation period of 8–12 weeks were assayed for alpha‐glucosidase activity using maltose as the substrate. Only one major form of maltase activity with a pH optimum at 4.0 was demonstrated. Using this method, we performed prenatal diagnosis on three pregnancies at risk for the infantile form of type II glycogen storage disease. Two affected fetuses and one unaffected fetus were predicted and the diagnosis was subsequently confirmed. The maltose assay offered a direct, simple, and sensitive method for prenatal diagnosis of Pompe's disease in the first trimester.
Prenatal sonography in trisomy 9
Authors: Benacerraf Beryl R. , Pauker Susan , Quade Bradley J. , Bieber Frederick R.
Published: March 2007

Two cases of trisomy 9 are presented with the description of the prenatal sonographic findings prompting prenatal cytogenetics evaluation. The characteristic sonographic abnormalities included structural heart defects; limb, renal, and facial anomalies; and intrauterine growth retardation. The clinical course and cytogenetic and autopsy findings are described.
The psychosocial sequelae of a second‐trimester termination of pregnancy for fetal abnormality
Authors: Mourik M. C. A. White‐Van , Connor J. M. , Ferguson‐Smith M. A.
Published: March 2007

A retrospective study to investigate the psychosocial sequelae of a second‐trimester termination of pregnancy (TOP) for fetal abnormality (FA) is described. After appropriate consent was obtained, 84 women and 68 spouses were visited 2 years after the event and asked to complete an extensive questionnaire. Most couples reported a state of emotional turmoil after the TOP. There were differences in the way couples coped with this confusion of feelings. After 2 years about 20 per cent of the women still complained of regular bouts of crying, sadness, and irritability. Husbands reported increased listlessness, loss of concentration, and irritability for up to 12 months after the TOP. In the same period, there was increased marital disharmony in which 12 per cent of the couples separated for a while and one couple obtained a divorce. These problems could be attributed to a lack of synchrony in the grieving process. Confusing and conflicting feelings led to social isolation and lack of communication. Difficulties in coming to terms with the fetal loss were not found to be linked to the type of fetal abnormality or religious beliefs but were related to parental immaturity, inability to communicate needs, a deep‐rooted lack of self‐esteem before the pregnancy, lack of supporting relationships, and secondary infertility. Suggestions for improved management are given.
Chorionic villus sampling and selective termination of a chromosomally abnormal fetus in a triplet pregnancy
Authors: Appelman Z. , Caspi B.
Published: March 2007

Transabdominal chorionic villus sampling (CVS) was performed on a patient with a triplet pregnancy. The karyotypes were as follows: 46,XX; 46,XY; and 46,XY/47,XXY. Selective termination was done on the affected fetus successfully by intrathoracic potassium chloride (KCI) injection. Amniocentesis which was performed at the same time confirmed the CVS results, showing the same mosaic findings. Following the procedure, the pregnancy proceeded uneventfully and two normal newborns were delivered at term.
First‐trimester ultrasonic diagnosis of twin reversed arterial perfusion sequence
Authors: Shalev E. , Zalel Y. , Ben‐Ami M. , Welner E.
Published: March 2007

Twin reversed arterial perfusion (TRAP) syndrome sequence is a rare specific anomaly of twin gestation with fused placentae and umbilical anastomosis. This syndrome occurs once in very 35 000–48 000 births and has been described in the second trimester (23‐29 weeks of gestation). We report on early sonographic diagnosis (10 and 12 weeks' gestation) of two cases of TRAP sequence, together with their umbilical cord Doppler studies.
Transvaginal chorionic villus sampling using transabdominal ultrasound guidance
Authors: Shulman Lee P. , Simpson Joe Leigh , Felker Richard E. , Emerson Donald S. , Meyers Carole M. , Phillips Owen P. , Elias Sherman
Published: March 2007

Transvaginal chorionic villus sampling (CVS) using concurrent transabdominal ultrasound guidance was performed in six women who desired CVS but could not be offered transcervical or transabdominal approaches because of uterine position and placental location. Satisfactory amounts of chorionic villi were obtained in all six cases with no maternal discomfort, an occurrence that contrasts with our experience in transvaginal CVS using endovaginal ultrasound guidance. We believe that transvaginal CVS using concurrent transabdominal ultrasound guidance warrants consideration as an alternative technique for first‐trimester CVS in selected patients.
Prenatal diagnosis of alpha‐1‐antitrypsin deficiency by PCR of linked polymorphisms: A study of 17 cases
Authors: Abbott C. M. , Lovegrove J. U. , Whitehouse D. B. , Hopkinson D. A. , Povey S.
Published: March 2007

We describe our experiences of prenatal diagnosis of alpha‐1‐antitrypsin deficiency using closely linked polymorphisms detected by Southern blotting and the polymerase chain reaction. Prenatal diagnosis was carried out for 17 pregnancies from 15 couples.
Evaluation of prenatal diagnosis by a registry of congenital anomalies
Authors: Stoll Claude , Alembik Yves , Dott Béatrice , Roth Marie‐Paule , Finck Sonja
Published: March 2007

Prenatal diagnosis performed by fetal karyotype and ultrasound scan is now a routine part of antenatal care in many countries. How many fetal anomalies are actually detected by these procedures? We have used our registry of congenital malformations to answer this question. In our region, prenatal diagnosis was performed in 23.1 per cent of fetuses with a chromosomal aberration and in 20.1 per cent of fetuses with non‐chromosomal anomalies. Only 6.9 per cent of the pregnancies with fetuses with non‐chromosomal anomalies were terminated. The sensitivity of prenatal diagnosis by ultrasonographic examination was much lower for isolated malformations (fetuses with only one anomaly) than for multiple malformed children, 15.3 and 48.3 per cent respectively, chromosomal anomalies excluded.
Maternal serum alpha‐fetoprotein levels and fetal outcome in early second‐trimester oligohydramnios
Authors: Los Frans J. , Hagenaars Adriana M. , Marrink Jan , Cohen‐Overbeek Titia E. , Gaillard Johannes L. J. , Brandenburg Helen
Published: March 2007

Early second‐trimester oligohydramnios was associated with normal maternal serum alpha‐fetoprotein (MSAFP) levels in nine out of 26 cases (35 per cent). Congenital malformations of the fetal urinary tract resulting in fetal anuria were present in nine cases; in seven of them, normal MSAFP levels were measured. In contrast, normal MSAFP levels were established in only 2 out of the 17 cases without fetal malformations. These data suggest that fetal urine is the major source of elevated AFP in the maternal compartment in early second‐trimester oligohydramnios. This is further supported by the lack of any relationship between concentrations of MSAFP non‐reactive with Concanavalin A, originating mainly from the yolk sacderived amniotic fluid AFP pool, and the presence of fetal diuresis. Three out of 26 women had experienced early second‐trimester oligohydramnios in a previous pregnancy, suggesting the existence of a recurrence risk for this condition.
The risk and efficacy of chorionic villus sampling in multiple gestations
Authors: Pergament E. , Schulman J. D. , Copeland K. , Fine B. , Black S. H. , Ginsberg N. A. , Frederiksen M. C. , Carpenter R. J.
Published: March 2007

Chorionic villus sampling (CVS) in the first trimester of pregnancy provides a safe and effective method for the early prenatal diagnosis of cytogenetic abnormalities in multiple gestations. In this multicentre study involving 126 twin and 2 triplet gestations primarily at risk because of advanced maternal age, the overall success rate of obtaining an adequate villus sample from each fetus was 99.2 per cent. For women of advanced maternal age, the rate of combined losses of chromosomally normal fetuses due to spontaneous abortion, stillbirths, and neonatal deaths was 5.0 per cent, compared with a 4.0 per cent total loss rate following CVS in singleton pregnancies derived from the same population (Rhoads et al., 1989). There was a 100 per cent success rate in obtaining a cytogenetic analysis; a cytogenetic abnormality was present in five of the multiple gestations (3.9 per cent) and involved seven fetuses (2.7 per cent). There were no diagnostic errors and no cases of normal cytogenetic diagnosis followed by the birth of a cytogenetically abnormal newborn. Based on cases of XX/XY admixture, cell contamination derived either from maternal decidua or the other twin occurred in 6 of 256 samples (2.3 per cent), giving an overall estimate of the frequency of cell contamination of 4.6 per cent; these cases did not present a diagnostic problem. However, there were two cases (0.8 per cent) in which the fetal sex was incorrect, due either to complete maternal cell contamination or to the possibility that in error one twin was sampled twice.
Trisomy 5 mosaicism detected prenatally with an affected liveborn
Authors: Sciorra Leonard J. , Hux Charles , Day‐Salvadore Debra , Lee Ming‐Liang , Mandelbaum David E. , Brady‐Yasbin Sheila , Frybury Julie , Mahoney Maurice J. , Dimaio Miriam Schoenfeld
Published: March 2007

This paper reports a case of chromosomal mosaicism for trisomy 5 recovered from amniotic fluid cells and from skin fibroblasts of a liveborn dysmorphic male. Routine amniocentesis was performed at 16 weeks' gestation because of parental concern. Trisomy 5 cells were measured from 25 per cent of amniocytes from two culture vessels. No further invasive testing was performed until 32 weeks' gestation, at which time ultrasound examination showed fetus with intrauterine growth retardation. Fetal blood sampling was then performed, with only karyotypically normal cells recovered. At birth, the child was found to have multiple dysmorphic features and congenital anomalies, including an eventration of the diaphragm and ventricular septal defect, both of which required surgical correction. Chromosomal analysis of cord blood lymphocytes indicated 46,XY; however, 20 per cent of the cultured fibroblasts obtained from the chest skin at the incision site for diaphragmatic repair had a 47,XY,+5 karyotype. Trisomy 5 mosaicism may be another example of tissue‐limited mosaicism. Fetal blood sampling can then be falsely reassuring. Furthermore, because some cell lines rarely appear in lymphocyte populations, cytogenetic analysis of multiple tissues warranted as part of the evaluation of individuals with developmental delay and dysmorphic features.
A further prenatal diagnosis of mosaic tetrasomy 12p (Pallister‐Killian syndrome)
Authors: Tejada M. I. , Uribarren A. , Briones P. , Vilaseca M. A.
Published: March 2007

A case of mosaic tetrasomy 12p was detected in amniotic fluid cell cultures from a 28‐year‐old woman referred to us at 26 weeks' gestation because of hydramnios. The fetus was shown on ultrasonography to have an omphalocele and a short femur length. Labour was induced at 32 weeks. An infant with multiple congenital anomalies was delivered and died after 10 min. The diagnosis of i(12p) or Pallister‐Killian syndrome was confirmed cytogenetically in fibroblast and lymphocyte cultures. Increased LDH‐B activity was demonstrated in fibroblasts.
Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies
Authors: Hsu Lillian Y. F. , Kaffe Sara , Jenkins Edmund C. , Alonso Lita , Benn Peter A. , David Karen , Hirschhorn Kurt , Lieber Ernest , Shanske Alan , Shapiro Lawrence R. , Schutta Edward , Warburton Dorothy
Published: March 2007

Currently, accepted protocol which has been developed at the Prenatal Diagnosis Laboratory of New York City (PDL) requires that when a chromosome abnormality is found in one or more cells in one flask, another 20–40 cells must be examined from one or two additional flasks. Chromosome mosaicism is diagnosed only when an identical abnormality is detected in cells from two or more flasks. In a recent PDL series of 12 000 cases studied according to this protocol, we diagnosed 801 cases (6.68 per cent) of single‐cell pseudomosaicism (SCPM), 126 cases (1.05 per cent) of multiple‐cell pseudomosaicism (MCPM), and 24 cases (0.2 per cent) of true mosaicism. Pseudomosaicism (PM) involving a structural abnormality was a frequent finding (2/3 of SCPM and 3/5 of MCPM), with an unbalanced structural abnormality in 55 per cent of SCPM and 24 per cent of MCPM. We also reviewed all true mosaic cases (a total of 50) diagnosed in the first 22000 PDL cases. Of these 50 cases, 23 were sex chromosome mosaics and 27 had autosomal mosaicism; 48 cases had numerical abnormalities and two had structural abnormalities. Twenty‐five cases of mosaicism were diagnosed in the first 20 cells from two flasks, i.e., without additional work‐up, whereas the other 25 cases required extensive work‐up to establish a diagnosis (12 needed additional cell counts from the initial two culture flasks; 13 required harvesting a third flask for cell analysis). Our data plus review of other available data led us to conclude that rigorous efforts to diagnose true mosaicism have little impact in many instances, and therefore are not cost‐effective.

On the basis of all available data, a work‐up for potential mosaicism involving a sex chromosome aneuploidy or structural abnormality should have less priority than a work‐up for a common viable autosomal trisomy.

We recommend revised guidelines for dealing with (1) a numerical versus a structural abnormality and (2) an autosomal versus a sex chromosome numerical aneuploidy. Emphasis should be placed on autosomes known to be associated with phenotypic abnormalities. These new guidelines, which cover both flask and in situ methods, should result in more effective prenatal cytogenetic diagnosis and reduced patient anxiety.
Mutation analysis for prenatal diagnosis and heterozygote detection of Gaucher disease type III (norrbottnian type)
Authors: Dahl Niklas , Wadelius Claes , Annerén Göran , Gustavson Karl‐Henrik
Published: March 2007

A single base substitution in exon 10 of the glucocerebrosidase gene was detected in families affected by Gaucher disease (GD) type III. This mutation, which results in the substitution of proline for leucine in position 444 of glucocerebrosidase, has been shown to result in type III GD in a Swedish population. Three fetuses at risk for GD type III were diagnosed as homozygous for the mutation and the pregnancies were terminated. In a fourth pregnancy, one parent was excluded as being a carrier and the risk of having a child affected by GD was ignored. Direct analysis of common mutations causal to GD is now available and improves prenatal diagnosis in families where the molecular defect has been characterized.
Meconium peritonitis: Extrusion of meconium and different sonographical appearances in relation to the stage of the disease
Authors: Chalubinski Kinga , Deutinger Josef , Bernaschek Gerhard
Published: March 2007

By chance, we had the opportunity to make serial sonographic observations of the extrusion of meconium in a case of meconium peritonitis. Inflammation leads to exudative processes and production of fluid (ascites) in the fetal abdomen. Sonography at that stage of the disease may lead to a misdiagnosis such as ‘fetal ascites’ or ‘non‐immune hydrops’. After bowel perforation and extrusion of meconium, the latter appears as a solitary mass inside fetal ascites or as disseminated echogenic masses distributed subdiaphragmatically or perihepatically. Within a couple of days, in most cases the echogenicity of the masses increases. Calcifications lead to distinct shadowing. These calcifications are often the only visible signs of a previous meconium peritonitis. Serial sonograms are essential for the management of pregnancies with meconium peritonitis. If the amount of fetal ascites does not increase and no signs of cardiovascular stagnation appear, no invasive intrauterine diagnostic and therapeutic steps are required. In none out of the nine cases was a cause found.
Increased maternal serum alpha‐fetoprotein and human chorionic gonadotropin in compromised pregnancies other than for neural tube defects or Down syndrome
Authors: Beekhuis J. R. , Van Lith J. M. M. , De Wolf B. T. H. M. , Mantingh A.
Published: March 2007

Intrauterine fetal death occurred in four women who were ‘screen‐positive’ in a screening programme for neural tube defects (NTDs) and Down syndrome (DS). These women had very high levels of maternal serum alpha‐fetoprotein (MSAFP) and maternal serum human chorionic gonadotropin (MShCG). Therefore, we evaluated all ‘screen‐positive’ women in whom both of these markers were ⩾ 2.0 multiples of the median. The cases fulfilling these criteria totalled 11, and only one of them had no complications. High concentrations of both MSAFP and MShCG in a number of these cases might have been caused by an increased placental volume, which, in turn, might have been induced by decreased perfusion of the placenta. We conclude that screening programmes wrongly determine a high risk of fetal NTD or DS if the concentrations of both these parameters are very high. Invasive diagnostic procedures should be avoided in these cases, particularly in view of the increased risk of an adverse pregnancy outcome.
Prenatal demonstration of a cervical myelocystocele
Authors: Bhargava Ravi , Hammond D. Ian , Benzie Ronald J. , Ventureyra E. Carlos G. , Higgins Michael J. , Martin David J.
Published: March 2007

Myelocystocele is a rare spinal cord disorder and has not been described prenatally. We report a case in which prenatal ultrasound and magnetic resonance imaging (MRI) demonstrated a posterior cervical mass which was initially thought to be a meningocele or an atypical cystic hygroma. Surgery performed at 1 day of age showed this to be a myelocystocele. Therefore, the differential diagnosis of an extracranial cystic mass in the posterior cervical region should be expanded to include myelocystoceles.
Introduction of early amniocentesis to routine prenatal diagnosis
Authors: Djalali M. , Barbi G. , Kennerknecht I. , Terinde R.
Published: March 2007

With growing awareness of the problems associated with prenatal cytogenetic diagnoses after CVS, attempts have been made to provide early amniocentesis as an alternative to CVS. Since 1990, at our clinic the gestational age limit for routine diagnostic amniocentesis has been successively lowered, first to 14 and then to 13 weeks of gestation. Thus, 811 prenatal diagnoses were performed after early amniocentesis at 13 weeks (n = 217) and at 14 weeks of gestation (n = 594). No problems were encountered. Culture failure was never observed in the early samples. Using the criteria ‘number of colonies’ and ‘culture duration until harvest’, early samples taken at 14 weeks did not differ significantly from the controls after standard amniocentesis performed at 15 and 16 weeks, respectively, whereas a minority of samples taken at 13 weeks experienced some delay in culturing. However, in each group at least 85 per cent of samples led to a diagnosis fulfilling our standard criteria of a safe diagnosis (at least 20 metaphases of at least five colonies from at least one primary culture after trypsinization) within 15 days. Some differences between the different groups can be recognized: culture duration of less than 11 days tends to be increasing after standard amniocentesis, whereas long culture duration (more than 20 days) is more often associated with early amniocentesis. However, this trend is only minimal and did not result in an increased risk of missing a diagnosis.
Pseudomosaicism, true mosaicism, and maternal cell contamination in amniotic fluid processed with in situ culture and robotic harvesting
Authors: Moertel Cheryl A. , Stupca Peggy J. , Dewald Gordon W.
Published: March 2007

This study was designed to test the usefulness of the common definitions for maternal cell contamination, true mosaicism, and pseudomosaicism for amniotic fluid specimens processed by in situ culture and robotic harvesting. We prospectively studied 4309 consecutive amniotic fluid specimens processed with these methods and found that 0.84 per cent had maternal cell contamination, 0.28 per cent had true mosaicism, and 5.4 per cent had pseudomosaicism. Although the frequencies of maternal cell contamination and true mosaicism were comparable to those in similar published studies, the frequency of pseudomosaicism was more than twice as high as that in previous reports. This finding is most likely not due to the method, but rather to a more accurate estimate of the actual frequency of pseudomosaicism in amniotic fluid cultures than reported heretofore. Follow‐up clinical information was available on 72 per cent of the cases. In three cases of true mosaicism involving structural anomalies, the results of cytogenetic follow‐up studies on the neonates were normal. None of the pseudomosaic cases involving trisomy 8, 13, 18, or 21; triple X; or monosomy X were associated with newborns who had birth defects.
Spontaneous cessation of umbilical blood flow in the acardiac fetus of a twin pregnancy
Authors: Cox M. , Murphy K. , Ryan G. , Kingdom J. , Whittle M. , McNay Margaret
Published: March 2007

The acardiac fetus is a rare entity found only in monozygotic multiple pregnancy. Although the acardiac fetus is non‐viable, the perinatal mortality rate for the normal fetus may be as high as 50 per cent, and is usually associated with fetal heart failure and hydrops fetalis, or as the result of prematurity. In this communication, we describe a case of spontaneous cessation of blood flow to an acardiac fetus and discuss the management of this condition with special reference to optimizing the outcome for the normal fetus.
Early second‐trimester sonographic appearance of occipital haemangioma simulating encephalocele
Authors: Bronshtein M. , Bar‐Hava I. , Blumenfeld Z.
Published: March 2007

Encephalocele is the most common cause of occipital midline extracranial mass associated with hydrocephalus. A case is presented where an occipital extracranial mass associated with hydrocephalus which was detected on second‐trimester ultrasound examination turned out to be a haemangioma, a relatively benign lesion. We suggest that haemangioma should be considered in the differential diagnosis of extracranial masses detected prenatally.
Amiodarone treatment in pregnancy for dilatative cardiomyopathy with ventricular malignant extrasystole and normal maternal and neonatal outcome
Authors: Valensise Herbert , Civitella Concettina , Garzetti Giuseppe Gioele , Romanini Carlo
Published: March 2007

Amiodarone treatment in pregnancy might be difficult to handle because of the long half‐life of the drug (14–28 days up to 2 months) and because it reduces maternal and neonatal thyroid activity. Although short‐term use in pregnancy has been described in cases of fetal supraventricular tachycardia, there are few reports on the chronic use of the drug. In this paper we describe our experience with amiodarone treatment in two pregnant sisters with familial dilatative cardiomyopathy and ventricular malignant extrasystole. Prolonged administration of amiodarone (400–200 mg/die) since the beginning of pregnancy did not have any adverse effects; maternal and neonatal thyroid function was normal, as was the neurological and motor development of the neonates.
Prenatal application of fluorescent in situ hybridization (FISH) for identification of a mosaic Y‐chromosome marker, IDIC(Yp)
Authors: Bernstein Renée , Steinhaus Kathryn A. , Cain Mary Jo
Published: March 2007

An amniocentesis was performed at 13.3 weeks' gestation for advanced maternal age. A mosaic sex chromosome pattern was found: of 50 cells examined, 34 had a 45,X karyotype. In 14 cells with a modal number of 46, a recognizable Y was substituted by a small non‐fluorescent marker. C‐banding identified the marker as an isodicentric in 12 cells. In two cells, the non‐fluorescent marker appeared to be monocentric and looked like a non‐fluorescent del (Yq), but could have been an isodicentric Y with inactivation of one of the centromeres. Two cells with a modal number of 47 showed two copies of the monocentric marker. Fluorescent in situ hybridization with an alpha satellite Y‐specific centromeric probe confirmed the Y‐chromosome origin of the markers and allowed for more accurate prenatal diagnostic information.
Diagnosis and prenatal diagnosis of epidermolysis bullosa herpetiformis (Dowling‐Meara) in a mother, two affected children, and an affected fetus
Authors: Holbrook Karen A. , Wapner Ronald , Jackson Laird , Zaeri Nayere
Published: March 2007

In utero skin biopsy was performed on a fetus at risk of an uncertain form of epidermolysis bullosa (EB). The mother had produced two affected offspring diagnosed variously as having junctional or dystrophic EB. The two offspring and the fetus were products of different fathers. The mother claimed to have no disease and on clinical examination was without blisters. Examination of the fetal skin biopsy by light and electron microscopy revealed separation of the epidermal sheet from the majority of the biopsy sample, although occasional remnants of basal cells remained associated with the basement membrane. Aggregations of keratin filaments were observed within basal cells of the detached epidermis and in the attached basal cell remnants. The diagnosis was thus suggested to be epidermolysis bullosa Dowling‐Meara. Re‐review of the clinical and laboratory data from the affected infants revealed a clinical and histological pattern consistent with this diagnosis. Further discussion with the mother revealed that her skin had blistered as a child and that she presently had hyperkeratotic palms and soles. This history is consistent with the autosomal dominantly inherited epidermolysis bullosa herpetiformis (Dowling‐Meara). This is the first reported prenatal diagnosis of EB Dowling—Meara. The morphological criteria of intraepidermal blistering and clumped keratin filaments within basal and immediately suprabasal cells characteristic of an affected individual postnatally also identified an affected fetus. There is, however, insufficient experience to be certain that these findings will hold from region to region in the body or among all affected fetuses, and thus prenatal diagnosis on a morphological basis should still be made with caution.
Prenatal diagnosis in a family with X‐linked chronic granulomatous disease with the use of the polymerase chain reaction
Authors: De Boer Martin , Bolscher Ben G. J. M. , Sijmons Rolf H. , Scheffer Hans , Weening Ron S. , Roos Dirk
Published: March 2007

In the X‐linked form of chronic granulomatous disease (X91° CGD), the genetic defect is linked to the CYBB locus on the X chromosome. We studied a family with a genetic defect in this gene, consisting of a G → A substitution at the fifth base of the 5′ donor splice site of intron 3. This mutation leads to skipping of exon 3 after transcription of the gene. The expectant mother was diagnosed as a carrier. Analysis of polymerase chain reaction (PCR)‐amplified genomic DNA from a chorionic villus biopsy (CVB) showed the same mutation in the male fetus. After termination of the pregnancy, the diagnosis was confirmed by conventional methods. This is the first time that PCR has been used for prenatal diagnosis of CGD.
Maternal Serum CA 125 for aneuploidy detection in early pregnancy
Authors: Norton Mary E. , Golbus Mitchell S.
Published: March 2007

Maternal serum CA 125 levels were determined at 9–11 menstrual weeks for 26 cases of trisomy 13 (n = 4), trisomy 18 (n = 7), trisomy 21 (n = 15), and appropriate controls. There were no statistically significant differences between groups.
Placental biopsy in the third trimester of pregnancy
Authors: Constantine G. , Fowlie A. , Pearson J.
Published: March 2007

Forty‐two women with abnormal ultrasound findings after 27 weeks' gestation underwent a placental biopsy. In 39 cases, a karyotype was obtained from a direct preparation within 48 h, five abnormal karyotypes being detected (four trisomies and a triploidy). One confirmed placental mosaic was also detected. In one case, a small terminal deletion of chromosome 7 was not detected at the time due to the quality of the preparation. A karyotype can be obtained from a direct preparation in the third trimester in over 90 per cent of cases, the quality of the preparation allowing the reliable detection of abnormalities of chromosome number. We believe that this technique may be usefully, reliably, and safely employed in the third trimester of pregnancy by those with an interest in antenatal ultrasound diagnosis who do not have immediate access to a cytogenetics laboratory and who feel that cordocentesis is inappropriate for their situation.
Genetic diagnosis by chorionic villus sampling before 8 gestational weeks: Efficiency, reliability, and risks on 317 completed pregnancies
Authors: Brambati Bruno , Simoni Giuseppe , Travi Maurizio , Danesino Cesare , Tului Lucla , Privitera Orsola , Stioui Sabine , Tedeschi Silvana , Russo Silvia , Primignani Paola
Published: March 2007

Transabdominal chorionic villus sampling (TA‐CVS) was attempted in 328 high‐risk pregnancies at 6–7 weeks of gestation. Sampling was feasible in 97.7 per cent of cases; chorionic tissue specimens of more than 10 mg were obtained in 94.4 per cent ofcases at the first needle insertion and in 100 per cent after a second attempt. Fetal karyotyping succeeded in 99.4 per cent of cases, while no diagnostic failures were reported in enzymatic and DNA analyses. Fetal loss rate in the first 4 weeks after CVS was significantly higher than in the later CVS series (7.2 vs. 2.5 per cent), but 50 per cent of losses were observed within 2 weeks in cases of inviable aneuploidies. A high incidence of severe limb abnormalities (1.6 per cent) was detected in pregnancies intended to continue, confirming the aetiological role of early CVS. Unclear visualization of the placental limits and poor control of the needle path are thought to be the main reasons for the vascular disruption of the chorionic plate, and thereby hypoxic embryo tissue damage. A better selection of cases, together with high‐resolution vaginal ultrasound visualization, and analytical techniques requiring a minimal amount of tissue should avoid any teratogenic effect of early CVS.
Human chorionic β‐mannosidase: Comparison with β‐mannosidase from human cultured fibroblasts
Authors: Petushkova N. A. , Ivleva T. S. , Vozniy Ya. M.
Published: March 2007

The conditions for assay of β‐mannosidase activity in human chorionic villi (CV) were studied using the fluorogenic substrate 4‐methylumbelliferyl‐β‐D‐mannopyranoside. A comparison of the biochemical properties of the CV β‐mannosidase with those of the enzyme from human cultured fibroblasts showed their similarity. Like the enzyme from skin fibroblasts, the CV β‐mannosidase had rather high activity. Both enzymes had virtually the same pH optimum (4.2‐4.7) and Km value. The data presented suggest that chorion biopsy specimens can be used for prenatal determination of β‐mannosidase activity at an early stage of development.
Prenatal diagnosis for the cystic fibrosis mutation 1717‐1, G→A using arms
Authors: Miedzybrodzka Z. H. , Kelly K. F. , Davidson M. , Little S. , Shrimptons A. E. , Dean J. C. S. , Haites N. E.
Published: March 2007

A family carrying two cystic fibrosis mutations, delta F508 and 1717‐1,G→A, requested prenatal diagnosis. In order to eliminate the need for labelling of allele‐specific oligonucleotides and to simplify the analysis, 1717‐1,G→A was detected using an ARMS (amplification refractory mutation system) method (Newton et al., 1989). Fetal DNA was obtained by chorionic villus sampling (CVS) and the ARMS technique was used to exclude the 1717‐1,G→A mutation. The fetus was found to be heterozygous for the delta F508 mutation. ARMS is a simple, quick, non‐radioactive method suitable for detecting DNA mutations in various clinical situations.
A simple electrophoretic procedure for fetal diagnosis of β‐thalassaemia due to short deletions
Authors: Faà V. , Rosatelli M. C. , Sardu R. , Meloni A. , Toffoli C. , Cao A.
Published: March 2007

This study describes three couples a t risk for homozygous β‐thalassaemia in which one of the partners carried a short deletion β‐thalassaemia defect. Detection of short deletions in trophoblast DNA was accomplished by the very simple procedure of non‐denaturing polyacrylamide gel electrophoresis. This method may be applied to detect β‐thalassaemia mutations due to deletion or addition of more than two nucleotides.
Prenatal identification of a 45,X/46,Xder(Y) mosaicism and confirmation by high resolution cytogenetics and fluorescence in situ hybridization
Authors: Qu Jingyi , Dallaire Louis , Fetni Raouf , Richer Claude‐Lise
Published: March 2007

A 45,X/46,Xder(Y) mosaicism detected prenatally was shown to have a rare Y inversion‐ duplication or Y/Y translocation which can only be identified by a combination of high resolution cytogenetics and fluorescence in situ hybridization. The present data indicate the usefulness and importance of chromosome‐specific probes in the identification and characterization of chromosome rearrangements.
Prenatal diagnosis of giant cystic hygroma: Prognosis, counselling, and management; case presentation and review of the recent literature
Authors: Thomas Ronald L.
Published: March 2007

Cystic hygromas have historically been associated with a grim prognosis when discovered during prenatal sonographic study of the fetus. This same grim prognosis is not observed by the paediatric surgeon who evaluates the neonate or paediatric patient. We present a fetal patient with a massive anterior cystic hygroma discovered in the third trimester prior to 30 weeks. This case and a review of the literature suggest tailoring the prognosis by category when counselling patients: (1) first trimester, normal karyotype‐good; (2) first trimester, abnormal karyotype‐poor; (3) second trimester and early third‐poor to guarded; and (4) mid to late third trimester‐good.
Neonatal alloimmune thrombocytopenia due to anti‐P1A1 (anti‐hpa‐1a): Importance of paternal and fetal platelet typing for assessment of fetal risk
Authors: Lipitz S. , Ryan G. , Murphy M. F. , Robson S. C. , Haeusler M. C. H. , Metcalfe P. , Kelsey H. , Rodeck C. H.
Published: March 2007

Neonatal alloimmune thrombocytopenia (NAIT), which usually involves sensitization to P1A1 (HPA‐1a), may have devastating complications for the fetus. These may be prevented by antenatal treatment of severe cases with either maternally administered high‐dose gamma‐globulin and/or repeated intrauterine platelet transfusions. Determination of the paternal platelet phenotype is useful for counselling parents who have had one or more affected pregnancies. This report of an unaffected pregnancy in a woman with a history of previous pregnancies complicated by NAIT illustrates the role of paternal and fetal platelet phenotyping in managing existing pregnancies at risk of NAIT.
Prenatal diagnosis of tetrasomy 12p by in situ hybridization: Varying levels of mosaicism in different fetal tissues
Authors: Blancato J. K. , Hunt M. , George J. , Katz J. , Meck J. M.
Published: March 2007

Prenatal diagnosis of tetrasomy 12p is complicated by the discrimination of the 12p isochromosome from the duplication 21q as well as the level of mosaicism demonstrated in the particular tissue sampled. In this disease, a high percentage of chromosomally abnormal cells are generally found in fibroblastic cells, but lymphocyte karyotypes from the same individual may be normal. We report on the pregnancy of a 37‐year‐old female who presented to our centre at 16 weeks' gestation for genetic amniocentesis. Sonography of the fetus revealed dextrocardia and diaphragmatic hernia. Chromosome analysis of amniocytes demonstrated mosaicism of a 47,XY,+i(12p) line in 80 per cent of cells and a normal male line (20 per cent), consistent with the Pallister‐Killian syndrome. Following termination, a 220 g male fetus of 18 weeks was examined. A flattened nose and low‐set ears were noted. In situ hybridization with a chromosome 12 centromeric probe in lymphocytes and skin cells unequivocally confirmed the karyotype and showed the presence of a single centromere in the abnormal chromosome, suggesting a true isochromosome. Chromosome analysis of various fetal tissues was performed and the following percentages of abnormal cells were found: skin 100 per cent, chorion 50 per cent, placenta 30 per cent, and blood 80 per cent. The high frequency of tetrasomic cells in fetal blood at this early gestational age is noteworthy, since most reports of this syndrome show a very low percentage of abnormal cells postnatally.
Fetal granulocytes in maternal venous blood detected by in situ hybridization
Authors: Wessman Maija , Ylinen Kari , Knuutila Sakari
Published: March 2007

Fetal male cells from maternal venous blood were detected by a non‐radioactive in situ hybridization method using the biotinylated Y‐specific DNA probe pY431. The hybridizations were performed on Ficoll‐Paque‐isolated nucleated blood cells obtained from 11 pregnant women in the seventh to 31st week of gestation. A Y‐specific signal was detected in both granulocytes and lymphocyte‐like cells in seven of the 11 women studied. These women gave birth to boys. In one of the four remaining cases, a Y‐specific signal was detected in the lymphocyte‐like cells but not in the granulocytes. This woman gave birth to a girl. The other three women had no cells with a Y‐specific signal and all three gave birth to girls. Altogether, 83 500 nucleated cells were analysed. One hundred and three cells showed a Y‐specific signal. Of these Y‐specific cells, 62 per cent were granulocytes and 38 per cent lymphocyte‐like cells. Our results suggest that fetomaternal transfer of granulocytes is common and that it occurs as early as in the seventh week of gestation. None of the ten non‐pregnant female control samples showed positive cells with the Y‐chromosome‐specific probe; approximately 97 per cent of the cells from the five adult male controls showed a Y‐specific signal. Our results indicate that in situ hybridization using a Y‐specific DNA probe performed on granulocytes in maternal blood can be used for fetal male sex determination.
Trisomy 16 confined to the placenta
Authors: Post J. G. , Nijhuis J. G.
Published: March 2007

Two cases with trisomy 16 confined to the placenta are presented. Prenatal diagnosis was indicated because of fetal growth retardation. In case 1, a phenotypically normal but small‐for‐date boy was born. In case 2, the fetus turned out to be triploid on cordocentesis. In both instances the trisomy 16 was recovered from the placenta. Recovery indicates that the abnormality was present in the placenta during the time of fetal growth retardation, which supports an aetiological relationship. Strict appliance of the current models cannot readily explain the observed discrepancies. In case 2, a chimeric placenta as a result of a vanishing twin is assumed. Cases of placental trisomy 16 published after 1988 are reviewed. It is concluded that confined placental trisomy 16 can cause intrauterine growth retardation if present in both the direct preparation and the villus culture. The chances of finding a chromosomally abnormal fetus (mosaic trisomy 16, triploidy) after diagnosis of trisomy 16 in chorionic villi are low but warrant further investigations.
The outcome of pregnancy and prenatal chromosomal diagnosis of fetuses in couples including a translocation carrier
Authors: Uehara Shigeki , Takabayashi Toshifumi , Okamura Kunihiro , Yajima Akira
Published: March 2007

In order to evaluate the relation between chromosomal translocation and the outcome of pregnancy, 50 couples were examined. Subjects consisted of 35 couples that included a reciprocal translocation carrier; 13 included a Robertsonian translocation carrier and 2 included a carrier of a mosaic reciprocal translocation. The reasons for performing chromosomal examinations were mainly infertility and abnormality of neonates. The rates of miscarriages and neonatal abnormalities in prior pregnancies were significantly higher than the birth rate of morphologically normal newborns. The presence of a translocation is closely related to reproductive failure because of the chromosomal imbalance. However, prenatal chromosomal examination after the 15th gestational week in subsequent pregnancies revealed that almost half of the fetuses showed normal karyotypes and only 12.8 per cent of the fetuses showed a chromosomal imbalance. Many chromosomally imbalanced fetuses are spontaneously aborted before amniocentesis. The risk of chromosomal imbalance is relatively low in prenatal diagnosis, but partial trisomies of small rearrangements tend to be preserved.
Mucolipidosis type IV: Accumulation of phospholipids and gangliosides in cultured amniotic cells. A tool for prenatal diagnosis
Authors: Zeigler M. , Bargal R. , Suri V. , Meidan B. , Bach G.
Published: March 2007

Cultured amniotic fluid cells from two mucolipidosis type IV (MLIV)‐affected fetuses demonstrated accumulation of phospholipids and gangliosides when compared with normal controls. Like cultured skin fibroblasts from MLIV patients, cultured amniotic cells from the affected fetuses accumulated primarily lyso phospholipids and this could be demonstrated by radioactive labelling with appropriate precursors, either inorganic phosphate or oleic acid. Furthermore, like cultured skin fibroblasts, there was significant retention of exogenously supplied GDIA ganglioside in the affected amniotic cells. This storage was previously demonstrated to be unique to MLIV and thus can be used at present as a specific procedure for prenatal diagnosis of MLIV.
Prenatal diagnosis of distal arthrogryposis type I by ultrasonography
Authors: Bui T.‐H. , Lindholm H. , Demir N. , Thomassen P.
Published: March 2007

Two consecutive pregnancies in a woman with initially undiagnosed type I distal arthrogryposis (DA) are reported. A prenatal diagnosis of the condition was made by ultrasound in the 17th week of gestation in one of the pregnancies, whereas in the subsequent pregnancy the disorder was excluded as early as 13 weeks' gestation. The diagnoses were verified at birth. The feasibility of prenatal diagnosis of DA type I in the second trimester is thus confirmed and its possibility in the late first trimester is suggested.
Prenatal diagnosis of syndromes associating albinism and immune deficiencies (Chediak‐Higashi syndrome and variant)
Authors: Durandy A. , Breton‐Gorius J. , Guy‐Grand D. , Dumez C. , Griscelli C.
Published: March 2007

We have successfully undertaken the prenatal diagnosis of two hereditary syndromes associating albinism and immune defects. Because the genes responsible for these diseases have not yet been mapped and the immune abnormalities are too subtle to be diagnosed in utero, the prenatal diagnosis was made using a morphological approach. In the case of Chediak‐Higashi syndrome, it was based on light microscopic examination of the hair shaft and on light and electron microscopic study of polymorphonuclear cells. In the syndrome associating immune deficiency and partial albinism, the Griscelli syndrome, only examination of the hair was feasible. The diagnosis was negative in 12 fetuses at risk and positive in four.
Association of generalized dystrophic epidermolysis bullosa with positive acetylcholinesterase and markedly elevated maternal serum and amniotic fluid alpha‐fetoprotein
Authors: Bass Harold N. , Miranda Cheryl , Oei Rudolph , Crandall Barbara F.
Published: March 2007

A case of fatal generalized dystrophic epidermolysis bullosa is described in a prematurely born female whose mother had strikingly elevated mid‐trimester serum and amniotic fluid alpha‐fetoprotein concentrations, a positive amniotic fluid acetylcholinesterase band, and negative serial ultrasound studies. This case lends further support to an association between autosomal recessive generalized dystrophic epidermolysis bullosa and increased levels of alpha‐fetoprotein, positive amniotic fluid acetylcholines'terase, and normal ultrasound findings.
Prenatal diagnosis of congenital cystic adenomatoid lung malformation: A report of seven cases
Authors: Heydanus R. , Stewart P. A. , Wladimiroff J. W. , Los F. J.
Published: March 2007

Six cases of macrocystic and one case of microcystic congenital adenomatoid lung malformation were diagnosed by ultrasound between 20 and 31 weeks of gestation. Combined polyhydramnios and fetal hydrops was present in three cases, polyhydramnios alone in one case, and isolated fetal hydrops also in one case. In the remaining two cases, both polyhydramnios and fetal hydrops were absent. Fetal outcome was poor, i.e., two terminations of pregnancy, three early neonatal deaths, and two survivors.
Prenatal sonographic diagnosis of metastatic neuroblastoma: Report of a case and review of the literature
Authors: Jaffa Ariel J. , Many Ariel , Hartoov Joseph , Kupferminc Michael J. , Peyser M. Reuben
Published: March 2007

Congenital malignant tumours are rare. Neuroblastoma is the most common solid tumour, accounting for about 30–50 per cent of tumours evident during the neonatal period. A case of metastatic, rapidly growing neuroblastoma, diagnosed prenatally by ultrasound at 32 weeks' gestation, is presented.
Prenatal diagnosis of trisomy 9 mosaic presenting as a case of Dandy‐Walker malformation
Authors: Bureau Y.‐A. , Fraser W. , Fouquet B.
Published: March 2007

Trisomy 9 syndrome is a rare chromosomal anomaly associated with specific patterns of multisystem dysmorphism and occasional central nervous system (CNS) malformations, the most common being the Dandy‐Walker malformation. Milder anomalies are usually seen with trisomy 9 mosaicism. We report what we believe to be the first case of a baby with an isolated Dandy‐Walker malformation which was diagnosed prenatally and was subsequently found to have a trisomy 9 mosaic syndrome.