bluuebunny/crossref_metadata_2025 huggingface dataset:
Prenatal diagnosis, fetal pathology and cytogenetic analysis of A 46,XX/47,XX, + 15 mosaic
Authors: Gimelli G. , Cuoco Cristina , Porro E. , Rehder Helga , Fraccaro M.
Published: March 2007

Mosaic trisomy 15 was prenatally diagnosed on amniotic fluid cells from two consecutive amniocenteses and was confirmed on cells from five different fetal tissues. The proportion of normal versus trisomic cells was consistently higher in the amniotic cell cultures and‐with one exception‐in the fetal tissues, while serial subcultures gave different results.

The slightly atypical external features and internal malformations of the affected fetus as compared to the only clinical observation from the literature are not unusual enough to allow the delineation of a specific malformation pattern.
Genetic amniocentesis in twin pregnancy
Authors: Bovicelli L. , Michelacci L. , Rizzo N. , Orsini L. F. , Pilu G. , Montacuti V. , Bacchetta M. , Pittalis M. C.
Published: March 2007

Among 1041 pregnancies 13 twin gestations were detected by routine ultrasonography prior to genetic amniocentesis at the Department of Prenatal Physiopathology of the University of Bologna. Clear amniotic fluid from both sacs was obtained in 12 of 13 sets of twins. All 12 sets were cytogenetically normal with normal levels of α‐fetoprotein. Only one patient spontaneously aborted liveborn immature twins 30 days after the procedure.

The technique used to obtain samples of fluid is described in detail and the need for additional counselling prior to amniocentesis in twins is stressed.
Variables influencing growth and morphology of colonies of cells from human amniotic fluid
Authors: Seguin Lana R. , Palmer Catherine G.
Published: March 2007

Growth of cells from amniotic fluid was studied with respect to cell concentration in the inoculum, blood contamination of the fluid, fluid colour, fluid clarity, gestational age of the pregnancy, and growth factors. Dependent variables measured were colony formation, colony size, and colony morphology after 7, 11, and 14 days of culture. The following conclusions were established from these studies: small sample volumes are the most efficient for producing colonies; cells from very bloody or dark brown fluids have a slower rate of growth; growth of cells from cloudy (noncontaminated) fluids is better than growth of cells from clear fluids; the proportion of colonies that are epithelioid varies with gestational age; the stimulating effect of 100 ng/ml fibroblast growth factor on cells from amniotic fluid was confirmed.
Fetal karyotypes from fetoscopy blood samples
Authors: Metaxotou C. , Antsaklis A. , Panagiotopoulou P. , Tsenghi Ch. , Benetou M. , Mavrou A. , Matsaniotis N.
Published: March 2007

The fetal karyotype was determined in 42 out of 45 cases from fetal blood obtained by fetoscopy for prenatal diagnosis of β‐thalassemia. The procedure described is quick and reliable and it is recommended for women over 35 years of age undergoing prenatal diagnosis for haemoglobinopathies.
Routine chromosome analysis on fetal blood microaliquots obtained at fetoscopy
Authors: Simoni G. , Tibiletti M. G. , Dalprà L. , Ferrari M. , Brambati B.
Published: March 2007

A routine study of the fetal karyotype was performed on samples obtained at 64 fetoscopic procedures. In 13 cases only pure amniotic fluid was available for the cultures, while in the remaining 51 cases the chromosome analysis was carried out on PHA‐stimulated lymphocyte microcultures set up with any excess fetal blood above the requirements for globin‐chain synthesis. Karyotype could be determined on fetal lymphocytes in 44 cases (86 per cent). All the fetuses were chromosomally normal. This experience shows that cytogenetic analysis using microaliquots of fetal blood is a relatively simple technique which should be introduced into routine prenatal diagnosis by fetoscopy.
Pregnancy‐associated plasma protein A: A possible marker in the classification and prenatal diagnosis of Cornelia de Lange syndrome
Authors: Westergaard J. G. , Chemnitz J. , Teisner B. , Poulsen H. K. , Ipsen L. , Beck Bente , Grudzinskas J. G.
Published: March 2007

The concentration of human placental lactogen (hPL), pregnancy specific beta‐1 glycoprotein (SP‐1) and pregnancy‐associated plasma protein A (PAPP‐A) were analysed in consecutive serum samples from a patient who gave birth to a child with Cornelia de Lange syndrome. HPL and SP‐1 were present in normal concentrations from week 20 to week 35 of gestation whereas PAPP‐A could not be detected in any of the samples examined. Immunohisto‐chemical examination of two placentae from Cornelia de Lange syndrome revealed normal localization of hPL and SP‐1 but the absence of PAPP‐A from the syncytiotrophoblast. The significance of association between Cornelia de Lange syndrome and compromised synthesis of PAPP‐A is discussed.
Prenatal exclusion of metachromatic leukodystrophy by estimation of arylsulphatase a activity in chorion and cultured amniotic fluid cells
Authors: Tsvetkova I. V. , Zolotukhina T. V. , Bakharev V. A. , Rosenfeld E. L. , Rosovsky I. S.
Published: March 2007

Chorion biopsy specimens were used for prenatal assay of arylsulphatase A activity in a pregnant woman whose two children had died from metachromatic leukodystrophy (MLD). As in two subsequent pregnancies chorion arylsulphatase A was in the control range, it was concluded that both fetuses were healthy. Absence of MLD in the fetus from the first pregnancy was confirmed after assay of arylsuphatase A activity in fetal organs. The second pregnancy resulted in delivery of a healthy child.
Alkaline phosphatase activity in amniotic fluid in pregnancies with fetal disorders
Authors: Jalanko Hannu , Heikinheimo Markku , Ryynänen Markku , Ranta Tapio , Aula Perth
Published: March 2007

Alkaline phosphatase (ALP) activity was determined in 255 amniotic fluid samples collected by amniocentesis between 15 and 39 weeks of gestation. The samples were originally used for chromosomal analysis and/or alpha‐fetoprotein measurements. The mean ALP activity in early amniotic fluid from pregnancies with fetal trisomy 18 and 21 syndromes was half of that found in the controls. Highly elevated ALP activity (over 10 times the median level) was found in 14 samples. Two of these pregnancies had normal outcome. Three samples were from pregnancies with intrauterine fetal death. Fetal disorders, including abdominal wall defect (four cases), Meckel's syndrome (two), hydrops fetalis syndrome (two) and genital anomaly (one), were observed in nine cases. Moderately elevated ALP activity (over three times the median) was found in 10 cases, including five pregnancies with a preterm labour shortly after the sample collection. The results indicate that elevated ALP activity in the third trimester amniotic fluid is often associated with fetal disorders.
Prenatal diagnosis of a double heterozygote for two reciprocal translocations of familial origin
Authors: Mulcahy Marie T. , Watson Marcia
Published: March 2007

Two balanced reciprocal translocations were found in an amniotic fluid cell culture undertaken because of maternal age. One translocation had been inherited from each parent. Both translocations were traced through three generations of each family. The importance of banding techniques in diagnostic cytogenetics is stressed.
Prenatal diagnosis of genetic microcephaly
Authors: Pescia G. , Nguyen‐The H. , Deonna T.
Published: March 2007

True microcephaly can be diagnosed at an early stage of gestation by serial measurements of fetal head growth as demonstrated by this case report in which the diagnosis of genetic microcephaly was made but termination refused. True microcephaly was evident at birth.
Fragile X demonstrated retrospectively in amniotic cells cultured in low folate medium
Authors: Nielsen Lise Bjerglund , Nielsen Karen Brøndum , Tommerup Niels
Published: March 2007

Chromosome analysis in a boy aged 10 months, with psychomotor retardation, revealed the fragile X‐chromosome in lymphocytes and skin fibroblasts cultured in low folate medium (TC 199). Amniocentesis and chromosomal analysis had been carried out during pregnancy because of advanced maternal age. Review of the slides from amniotic fluid cells grown routinely in low folate medium showed the marker X in 10.6 per cent of the metaphases. Possible explanations for the appearance of the marker X in amniotic cell culture are discussed.
Prenatal diagnosis of thalassaemia by haemoglobin chromatography on biorex an evaluation of the method
Authors: Dash Sumitra , Panourgias John , Karababa Photini , Loukopoulos Dimitris
Published: March 2007

The applicability of the chromatographic separation of haemoglobins F, A and S on Biorex 70 (Blouquit et al., 1982) for the prenatal diagnosis of thalassaemia and related conditions was evaluated in comparison to the conventional globin chain separation technique. The method proved reliable, inexpensive and rapid and should be considered as a valuable alternative in laboratories carrying out great numbers of tests and those being newly set up for this purpose.
Errors in plasma creatine kinase estimations on fetal blood samples resulting from contamination with amniotic fluid and maternal blood: Relevance for the prenatal diagnosis of duchenne muscular dystrophy
Authors: Edwards R. J. , Rodeck C. H. , Watts D. C.
Published: March 2007

This paper presents a detailed analysis of the calculation of fetal plasma CK activity in fetal blood samples contaminated with amniotic fluid and maternal blood. The seemingly simple formula for this calculation, first presented by Mahoney et al. (1977), is actually more complex than it appears; values for up to nine variables, two of which can only be assumed, are needed. Small variations in certain variables may result in very large errors in the final calculated value of fetal plasma CK activity. Examples of diluted blood samples are considered and the effects of allowing for reasonable errors in the variables is explored. The main source of error is in the measurement of CK activities in the diluted blood sample and in the amniotic fluid. Contamination by blood originating from the maternal circulation can also be a large source of error, especially if the mother is a carrier of DMD and maintains a high level of plasma CK activity during pregnancy. Fetal blood indices have to be assumed; these may be a source of significant error, depending on the difference between the actual and assumed values.

The measurement of fetal plasma CK activity by the indirect calculation method is discussed in the context of the prenatal diagnosis of DMD.
Experiences with unexpected structural chromosome aberrations in prenatal diagnosis in a danish series
Authors: Vejerslev Lars O. , Friedrich Ursula
Published: March 2007

The investigation of 5547 prenatal diagnoses showed 31 unexpected structural chromosome rearrangements. These included 3 Robertsonian translocations, 14 reciprocal translocations and 14 inversions. A11 were balanced, including 5 de novo rearrangements. In 3 of these cases an induced abortion was performed and in 2 cases children without detectable malformations were delivered.
Prenatal diagnosis of pericentric inversion of chromosome no. 17 in a twin pregnancy
Authors: Kassam Gulzar , Chen Andrew T. L. , Goldberg Marshall F. , Trusler Suzanne , Oakley Godfrey P.
Published: March 2007

Although prenatal genetic diagnosis can usually provide prospective parents with information as to whether their fetus is affected with certain genetic conditions, the presence of twins and the uncertainty about the phenotype of some chromosome variations pose a major dilemma and make genetic counselling very difficult. Here, a case report of an unusual chromosome aberration (pericentric inversion of chromosome no. 17) in a twin pregnancy which was originally suspected to be monoamniotic but later proved to have two sacs was presented.
Mitomycin C induced chromosome damage in fetal blood cultures and prenatal diagnosis of fanconi's anaemia
Authors: Shipley J. , Rodeck C. H. , Garrett C. , Galbraith J. , Giannelli F.
Published: March 2007

We report the use of fetal blood for the prenatal diagnosis of Fanconi anaemia (FA). The clastogenic action of Mitomycin C (MMC) is compared in blood cultures from different fetuses, normal controls and FA heterozygotes. The fetus at risk is shown to suffer from FA on the grounds of excessive chromosome breakage, both spontaneous and MMC induced.
Genetic amniocentesis in multiple gestations
Authors: Filkins Karen , Russo Joseph , Brown Thomas , Schmerler Susan , Searle Bernard
Published: March 2007

Thirty‐one genetic amniocenteses involving multiple gestations were performed in the genetics unit between 1976 and 1982. Three sets of triplets were included. Precise locations of the sacs were determined using real‐time ultrasonography and successful sampling of all sacs was accomplished. Spontaneous abortions occurred in two normal twins and one normal triplet gestation. Two therapeutic abortions were performed for fetal abnormalities. Two cases of discordance for trisomy 21 (one twin and one triplet) were allowed to continue; the twin case terminated at 25 weeks' gestation with neonatal deaths and the triplets are alive and well.
Early prenatal ultrasonic findings in klippel—trenaunay—weber syndrome
Authors: Seoud Muhieddine , Santos‐Ramos Rigoberto , Friedman J. M.
Published: March 2007

Routine sonography prior to genetic amniocentesis revealed the presence of a large complex mass with pulsating channels over the anterior fetal chest wall. This led to early termination of pregnancy in a fetus affected with the rare Klippel‐Trenaunay‐Weber Syndrome.
Simple ultrasonic diagnosis of osteogenesis imperfecta type II in early second trimester
Authors: Ghosh A. , Woo J. S. K. , Wan C. W. , Wong V. C. W.
Published: March 2007

Osteogenesis imperfecta (OI) Type II was diagnosed accurately in an at‐risk fetus at 16 weeks gestation by real‐time sonography. The most important findings were shortening, deformity and possibly fracture in the long bones particularly the femurs. Ultrasonic visualization of these signs in a fetus at risk will provide direct evidence in the diagnosis of OI Type II and any additional investigations are not indicated.
Parental response to mid‐trimester therapeutic abortion following amniocentesis
Authors: Jones O. W. , Penn Nolan E. , Shuchter Stephen , Stafford Claire A. , Richards Teri , Kernahan Colleen , Gutierrez Jennifer , Cherkin Patricia , Reinsch Sylvia , Dixson Barbara
Published: March 2007

This article reports the results of a retrospective study designed to examine the responses of couples to genetic amniocentesis and subsequent therapeutic abortions due to birth defects. Fourteen women and 12 men were interviewed by experienced interviewers using a structured format designed by the authors, and each interview was audiotaped for later rating. The 5 raters (all women) were instructed to independently rate each interview using forms designed by the authors to elicit information about many aspects of the participant's individual responses as well as perceptions of spouse's responses to the process of pregnancy, amniocentesis, therapeutic abortion, and sequelae. Ratings of all 5 raters were conjoined and an homogeneous narrative was constructed for each interview. Results indicate, in general, that the respondent couples coped well with this experience. In fact 70 per cent of the respondent couples described their marital relationships as becoming closer as a result of their experience. Only a few participants reported long‐term deleterious effects. Most couples coped by relying on relatives, friends, and occasionally, professional counsellors. In addition, most participants in this study suggested ways to improve the medical and psychological aspects of this experience.
Prenatal diagnosis of a 46,XX/47,XX, +12 mosaic
Authors: Jensen Peter K. A. , Hahnemann N. , Rehder H. , Schwinger E. , Friedrich U.
Published: March 2007

A case of true mosaicism 46,XX/47,XX,+ 12 was diagnosed prenatally. The pregnancy was terminated in the 21st week of gestation and the aberrant cell line was rediscovered in cultured fetal tissue. However, a detailed examination of the fetus did not disclose any significant physical malformation.
A prospective study of amniotic fluid cholinesterases: Comparison of quantitative and qualitative methods for the detection of open neural tube defects
Authors: Wyvill P. Carol , Hullin D. A. , Elder G. H. , Laurence K. M.
Published: March 2007

The value of quantitative and qualitative methods of cholinesterase (ChE) analysis in the detection of open neural tube defect (NTD) has been assessed in a prospective survey of 1495 mid‐trimester amniotic fluids.

Using a quantitative method the mean ChE values were much lower in fluids from pregnancies of normal outcome but it was not possible to discriminate these fluids completely from those associated with NTD pregnancies. particularly when the specimens were contaminated with blood. Similarly, measurement of acetylcholinesterase (AChE) activity alone by three different methods also failed to eliminate the overlap between the two groups.

In contrast, polyacrylamide gel electrophoresis revealed only a single band of ChE activity in 1408 out of 1410 fluids from pregnancies with a normal outcome whilst amniotic fluids from all 60 cases of open NTD. 6 out of 7 cases of exomphalos and 3 out of 4 cases of intra‐uterine death gave the characteristic second faster‐running AChE band.

A qualitative gel method which requires the same amount of ChE activity to be loaded from each amniotic fluid is an effective method for pre‐natal diagnosis of NTDs.
Psychological reactions to fetoscopy: A controlled study
Authors: Fava Giovanni A. , Michelacci Laura , Trombini Giancarlo , Bovicelli Luciano , Orlandi Camillo
Published: March 2007

Twenty woman at risk of carrying a fetus with homozygous beta‐thalassemia who underwent fetoscopy and a matched control group of pregnant women were administered the Symptom Questionnaire to evaluate changes in distress. Women who were offered fetoscopy had significantly more anxiety, depression, somatic symptoms and hostility than the control group. Psychological distress significantly decreased after the results of fetoscopy were communicated to the patient, and the decrease was similar in normal control women. Five other patients had a diagnosis of homozygous beta‐thalassaemia and their pregnancies were terminated. Their psychological distress increased when they learned the outcome of fetoscopy, but decreased again after termination. Psychological reactions to fetoscopy and amniocentesis appear to be similar, yet women who undergo fetoscopy suffer from more psychological distress.
Glial fibrillary acidic protein in amniotic fluids from pregnancies with fetal neural tube defects
Authors: Albrechtsen Merete , Bock Elisabeth , Nørgaard‐Pedersen Bent
Published: March 2007

The glial fibrillary acidic protein (GFAP) is the subunit protein of intermediate filaments in astrocytes and closely related cell types. By means of an enzyme immunoassay we have determined the concentration of GFAP in amniotic fluids from normal pregnancies and from pregnancies complicated by various fetal malformations.

The group of 20 cases of fetal anencephaly had a significantly higher mean amniotic fluid GFAP concentration (115 μg/1±133.6 (S.D.), range 6–378 μg/1) than the control group of 117 normal pregnancies (13 μg/1k±5.5 (S.D.), range 0–31 μg/1), (P<0.001). Two cases of fetal encephalocele likewise had very high amniotic fluid GFAP concentrations. None of the other cases of fetal malformations investigated, including 12 cases of spina bifida, had increased amniotic fluid GFAP concentrations.

We conclude that determination of the amniotic fluid GFAP concentration may give additional information in the prenatal diagnosis of fetal nervous system malformations.
Trisomy 20 mosaicism
Authors: Miny P. , Pawlowitzki I.‐H.
Published: March 2007

A further case of trisomy 20 mosaicism found at amniocentesis is presented. Pregnancy was terminated, the fetus showed facial dysmorphia and minor cardial and renal anomalies. 19 published reports of true trisomy 20 mosaicism at amniocentesis are reviewed. Five pregnancies resulted in obviously normal newborns. The significance of mostly minor anomalies found at autopsy of 7 fetuses remains unclear. With regard to genetic counselling the significance of trisomy 20 mosaicism is summarized as follows: (1) true trisomy 20 mosaicism in amniotic fluid cells reflects mosaicism of the fetus; (2) severe malformation is not a major feature of trisomy 20 mosaicism; (3) the risk of mental retardation is still undetermined, due to limited experience. However, there is no definite proof that the condition is harmful at all.
Prenatal diagnosis of cystic fibrosis using a monoclonal antibody specific for intestinal alkaline phosphatase
Authors: Brock David J. H. , Barron Lilias , Bedgood David , Van Heyningen Veronica
Published: March 2007

A monoclonal antibody (AAP‐1), specific for the intestinal isoenzyme of alkaline phosphatase (ALP), has been used to develop an immunoassay for amniotic fluid samples. Values in the immunoassay correlated closely with those obtained by direct determination of phenylalanine‐inhibitable ALP.

A panel of 124 control second‐trimester amniotic fluids and 21 fluids with a 1 in 4 risk of a cystic fibrosis fetus were examined in the immunoassay. Eight of 10 affected cases had values below an arbitrary cut‐off of one third median, while all the non‐affected cases were above this level. Almost identical results were obtained by enzymatic determination of phenylalanine‐inhibitable ALP. However, in both systems the false positive rate (control fluids with values below one third median), was unacceptably high.

It is pointed out that at present the most effective system for the prenatal diagnosis of cystic fibrosis is achieved by measuring the ratio of intestinal to total ALP in amniotic fluid supernatants. This is probably best effected by enzymatic assay in the presence of phenylalanine and homoarginine inhibition.
Amniotic band disruption syndrome associated with elevated amniotic AFP and normal acetylcholinesterase gel test
Authors: Aitken D. A. , May H. M. , Ferguson‐Smith M. A. , Howat R. , Kohler H. G.
Published: March 2007

Ultrasonography in an 18 week pregnancy selected for detailed scanning because of a single elevated maternal serum AFP result suggested the presence of anencephaly. Amniocentesis at 19 weeks yielded a clear AF with an elevated AFP result (5.4 MOM) and no evidence of an acetylcholinesterase band of neural origin on PAG electrophoresis. At termination, the fetus had cephalo‐amniotic fusion and multiple abnormalities including bilateral cleft lip and palate and digital amputations characteristic of the amniotic band syndrome. The cranial defect was completely sealed by attachment of the amniotic surface of the placenta to the skull.
A culture vessel for amniotic fluid cells allowing faster preparation of chromosome slides
Authors: Tabor Ann , Lind Anne‐Mare , Andersen Alice Milbrat , Philip John
Published: March 2007

A new culture vessel for amniotic fluid culture is presented (flaskette). It consists of a microscope slide, on top of which a culture chamber is mounted.

Amniotic fluid cell cultures using in situ technique in the flaskette were compared to subcultured samples in ordinary (Falcon) tissue culture bottles. Working time was reduced by using this new culture vessel because of a very simple harvest procedure allowing simultaneous harvest of 15 samples.

The interval between amniocentesis and harvest was shorter for the in situ technique than for the subcultivation technique. The frequency of aneuploidy in individual metaphases was higher with the subcultivation technique. while there was no difference in the frequency of structural anomalies.
Pericentric inversion of the Y chromosome and prenatal diagnosis
Authors: Shapiro Lawrence R. , Pettersen Richard O. , Wilmot Patrick L. , Warburton Dorothy , Benn Peter A. , Hsu Lillian Y. F.
Published: March 2007

Pericentric inversion of the human Y chromosome has been estimated to occur with a frequency of 1–2 per thousand in various populations, and the results of this study, derived from over 12 000 prenatal diagnosis cases, is 1.15 per 1000. In these cases, it was concluded that there was no clinical significance because the fathers and male fetuses had the same pericentric inversion. Chromosome analysis of the father is advisable to determine whether or not the inversion is familial in order to be able to provide genetic counselling.
A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses
Authors: Boué A. , Gallano P.
Published: March 2007

A collaborative study involving 71 European prenatal diagnosis centres has collected 1356 observations on the karyotype of fetal cells in diagnoses performed in couples in which a parent had a balanced structural rearrangement.

The segregations of the inherited chromosome structural rearrangement were analysed in relation to the types of rearrangement, to the sex of the carrier parent, the methods of ascertainment of the anomaly in the family, the chromosomes involved and the potential imbalance of the anomaly.

Wide differences in the incidence of unbalanced fetuses were observed in relation to these criteria, and these results can be used in counselling parents with balanced rearrange‐ ments. Distortions in segregation of normal versus balanced karyotypes were observed in some types of anomalies.
Outcome of cases ofde novostructural rearrangements diagnosed at amniocentesis
Authors: Warburton Dorothy
Published: March 2007

The frequency of de novo rearrangements at amniocentesis was determined in 76952 prenatal diagnoses from centres in the United States. Rates for balanced rearrangements are slightly greater than rates previously reported in the newborn, possibly because banding studies were not used in the latter. Rates for unbalanced rearrangements are considerably higher in the amniocentesis data not only because banding was used but also because a substantial loss of abnormal conceptions is to be expected between amniocentesis and birth. The higher frequency of cases with supernumerary markers at amniocentesis is unexplained.

A review of 66 apparently balancedde novorearrangements found at amniocentesis revealed evidence of abnormality in five; in four of these the abnormality was noted in the abortus. The number of cases observed is still too small to rule out a risk of abnormality no greater than the usual rate of abnormalities at birth. Abnormalities were detected in 6 of 10 cases with unbalancedde novorearrangements.

In 33 cases of non‐familial supernumerary chromosomes 6 (18.2 per cent) showed abnormality. Non‐satellited markers appeared to have a higher rate of abnormality than satellited markers but the difference is not statistically significant.

Further studies and improved follow‐up ofde NOVOcases diagnosed at amniocentesis are required.
The impact of maternal serum alpha fetoprotein screening on open neural tube defect births in North‐East Scotland
Authors: Thom H. , Campbell A. G. M. , Farr V. , Fisher P. M. , Hall M. H. , Swapp G. H. , Gray E. S.
Published: March 2007

Over the three years period 1980–1982, 18 256 pregnancies in the Grampian Region of N‐E Scotland including the islands of Orkney and Shetland were screened for raised levels of maternal serum alpha fetoprotein (MSAFP) in the second trimester. Thirty six cases of fetal open neural tube defect in singletons were detected (18 anencephaly and 18 spina bifida). Four additional cases of open spina bifida were associated with normal MSAFP levels although two of these were detected by amniotic fluid AFP measurement when amniocentesis was carried out because of previous NTD history. A further three cases of open spina bifida and two of anencephaly occurred in unscreened pregnancies. The MSAFP screening programme alone was thus instrumental in reducing the birth incidence of open neural tube defects by 36 out of 45 cases (80 per cent) in singletons.
The prenatal diagnosis of the cerebro‐hepato‐renal syndrome of Zellweger
Authors: Solish George I. , Moser Hugo W. , Ringer Laura D. , Moser Ann E. , Tiffany Carol , Schutta Edward
Published: March 2007

The prenatal diagnosis of the cerebro‐hepato‐renal syndrome of Zellweger (CHRS) was made by assaying the levels of very long chain fatty acids (VLCFAs) in amniotic fluid cell cultures, obtained by amniocentesis at 16 1/2 weeks of pregnancy. The family‐at‐risk, because they had previously borne a child with CHRS, accepted these results as indications of an affected fetus, and chose to terminate the pregnancy at 20 1/2 weeks of gestation. The diagnosis was confirned by the phenotype of the aborted fetus and the presence of markedly elevated levels of VLCFAs in fetal liver homogenates. The prenatal diagnosis of CHRS, which can now readily be determined from amniotic fluid cell cultures, is an important step in genetic counselling of families‐at‐risk for this disease.
Failure to detect fetal obstructive uropathy by second trimester ultrasound
Authors: Wladimiroff J. W. , Beemer F. A. , Scholtmeyer R. J. , Stewart P. A. , Spritzer R. , Wolff E. D.
Published: March 2007

The prenatal diagnosis, management and outcome of an hereditary obstructive uropathy is presented. Serial ultrasonic assessment of the fetal urinary tract was carried out from the early second trimester onward. Slight bilateral hydronephrosis as a first sign of obstructive uropathy was only established as late as 30 weeks of gestation.

On the basis of weekly ultrasound scans, a conservative approach was adopted. In view of fetal maturity, labour was induced at 36 weeks resulting in the vaginal delivery of a male infant with moderate bilateral hydronephrosis. Neonatally, anuria developed due to bilateral obstruction of the ureters as a result of increasing bladder wall hypertrophy due to urethral valves.

A bilateral uretero‐cutaneostomy was carried out. The infant so far develops normally, and renal function is normal for age.

Women at risk for fetal obstructive uropathy should have ultrasonic monitoring throughout pregnancy.
Prenatal diagnosis of a true mosaic trisomy 20 substantiated by demonstration of a gene dosage effect for adenosine deaminase (ADA)
Authors: Steinbach P. , Djalali M. , Rolland Marie‐Odile
Published: March 2007

Fibroblasts from a fetus with the prenatal diagnosis of mosaic trisomy 20 were cloned by dilution plating. Adenosine deaminase (ADA), a biochemical marker for chromosome 20, was assayed in trisomic clones and normal clones as control. The cytogenetic diagnosis was substantiated by demonstration of a triplex gene dosage effect for ADA in the trisomic cells.
Prenatal diagnosis and fetal pathology of partial trisomy 20p–monosomy 4p resulting from paternal translocation
Authors: Vamos E. , Pratola D. , Van Regemorter N. , Freund M. , Flament‐Durand J. , Rodesch F.
Published: March 2007

Amniocentesis was performed in view of a paternal balanced chromosomal rearrangement t(4;20)(p16;p12), inv(18)(p11q11). The pregnancy was complicated by severe oligohydramnios. The fetal karyotype was unbalanced: 46XX, der(4), t(4;20)(p16;p12), inv(18) (p11q11)pat., thus resulting in partial trisomy 2Op and monosomy 4p. In addition, the amniotic fluid alpha‐fetoprotein (AFP) became increasingly elevated with gestational age. The pregnancy was terminated at 25 weeks. The fetus presented with typical facial dysmorphic features, unilateral cleft lip and palate, severe renal hypoplasia, consistent with the 4p‐ (Wolf‐Hirschhorn) syndrome.
Prenatal diagnosis of tetrasomy 21
Authors: Lopes V. , Mak E. , Wyatt P. R.
Published: March 2007

Amniocentesis and prenatal diagnosis were done for late maternal age and an abnormality consistent with Tetrasomy 21 (47,XX,+t(21;21)) was found in every cell examined of the initial amniotic fluid. Clinical examination revealed a fetus with many of the signs of Down Syndrome and pathological examination revealed gross abnormalities of the internal structures. Follow‐up tissues showed mosaic Tetrasomy 21.
Prenatal diagnosis for Tay‐Sachs disease using chorionic villus sampling
Authors: Grebner Eugene E. , Jackson Laird G.
Published: March 2007

Prenatal diagnosis for Tay‐Sachs disease was performed on 25 patients using chorionic villus sampling (CVS). Nineteen were diagnosed as normal, and six were affected. Normal villus extracts had both hexosaminidase (hex) A and B activity, as determined by Cellogel and polyacrylamide gel electrophoresis, while extracts from affected fetuses had only hex B activity. Compared to cultured amniotic fluid cells or fibroblasts, villi contained less hex A. Hex A levels in fresh villi and cultured trophoblasts were roughly comparable.
Comparative study of 15 lysosomal enzymes in chorionic villi and cultured amniotic fluid cells. Early prenatal diagnosis in seven pregnancies at risk for lysosomal storage diseases
Authors: Gatti R. , Lombardo C. , Filocamo M. , Borrone C. , Porro E.
Published: March 2007

A large number of chorionic villi samples obtained from women undergoing elective first trimester termination of pregnancy was analysed by enzyme assays similar to those applied to cultured amniotic cells. The levels of 15 lysosomal enzymes were compared to those observed in tissue cultures of amniotic cells obtained through amniocentesis at 16‐18 weeks of pregnancy and the results were discussed in order to assess the usefulness of trophoblast biopsy for first trimester diagnosis of hereditary lysosomal diseases. The data suggest the applicability of this source of fetal cells for prenatal diagnosis of fifteen respective genetically determined enzyme deficiencies with the probable exception of α‐L‐iduronidase deficiency.

Enzyme determinations were performed on chorionic villi samples of two pregnancies at risk for Tay‐Sachs disease, three pregnancies for GM1 gangliosidosis type 1, one for mucopolysaccharidosis type VI and one for Wolman's disease.
Transcervical chorionic villus biopsy with a brush
Authors: Liu David T. Y. , Symonds E. Malcolm , Jeavons Bernie , Norman Sandie
Published: March 2007

A brush delivered to the biopsy site by a metal introducer and cannula set was tested as an alternative implement for transcervical collection of chorionic villi. This implement was easy to use and readily identified by ultrasound. With only one attempt at sampling, the overall collection rate for 83 patients was 65 per cent. With practice 84 per cent successful collection was achieved. Gestations between 8 and 11 weeks was the best time for collection of chorionic villi. A single sampling can produce adequate material (15 mg wet weight) suitable for diagnostic purposes. No gestation sac was perforated but some slight bleeding followed the procedure. Appreciable success following a single sampling attempt coupled with the low complication rate suggests that this technique may have clinical application and deserves further investigation.
Early prenatal diagnosis of short rib‐polydactyly (SRP) syndrome type I (Majewski) by ultrasound in a case at risk
Authors: Gembruch U. , Hansmann M. , Födisch H. J.
Published: March 2007

Short rib‐polydactyly (SRP) syndrome Type I was diagnosed accurately in an at‐risk fetus at 16 weeks of gestation by real‐time sonography. The most important findings were a narrow thorax, significant shortening of the long bones, particularly the tibiae, and–by directed search–the polydactyly.
A survey of diagnostic amniocenteses in Oxford from 1974–1981
Authors: Terzian Emanuela , Boreham Jillian , Cuckle Howard S. , Wald Nicholas J. , Bobrow Martin , Lindenbaum Richard , Turnbull A. C.
Published: March 2007

A survey was conducted of the results of mid‐trimester diagnostic amniocenteses in the Oxford Region from 1974 to 1981. The survey used data relating to all 4357 singleton pregnancies in which an amniocentesis was performed during this period. Follow‐up information on outcome was obtained in respect of 4284 (98 per cent) pregnancies. A cell culture to determine karyotype and an alpha‐fetoprotein determination was carried out in all cases. From 1974 to 1981 amniocenteses became increasingly common, rising from 2 to 32 per 1000 births. The most common indication for amniocentesis was a high risk of a chromosome abnormality–56 per cent of all amniocenteses. Within this group advanced maternal age was responsible for 89 per cent of the cases. The next most common indication was a high risk of a neural tube defect (37 per cent of all amniocenteses)–in 1974 a raised maternal serum alpha‐fetoprotein level accounted for only 4 per cent of these; by 1981 this had risen to 67 per cent. There were seven false‐positive and 132 true‐positive diagnoses of neural tube defect; since 1981, with the introduction of amniotic fluid acetylocholinesterase determination as a secondary diagnostic test for neural tube defects, there have been no further false‐positive diagnoses. In 1981 76 per cent of women aged 35 years or more did not have an amniocentesis. It is not known to what extent this was due to not offering women in this age group amniocentesis or to women not accepting such an offer.
Prenatal diagnosis of hypochondroplasia
Authors: Stoll C. , Manini P. , Bloch J. , Roth M‐P.
Published: March 2007

Prenatal diagnosis of a fetus at risk for hypochondroplasia, a short limb dwarfism condition similar to achondroplasia, was performed by ultrasound at 22 weeks' gestation. The limb bones were measured and shown to be decreased in length. The pregnancy was terminated. Post abortion X‐ray did not show caudal narrowing in the lumbar spine but the pelvis had the features of hypochondroplasia.
Anatomic correlates of ultrasonographic prenatal diagnosis
Authors: Rutledge Joe C. , Weinberg Arthur G. , Friedman Jan M. , Harrod Mary Jo , Santos‐Ramos Rigoberto
Published: March 2007

In utero sonographic diagnoses from forty‐five malformed infants were correlated with their autopsy findings. Fifty‐two malformations were diagnosed prenatally in 42 of the patients but 90 additional malformations were not. Nine sonographically diagnosed abnormalities were not confirmed at autopsy. Factors compromising sonographic diagnosis included: limited examinations, small fetal size, timing of examination, oligohydramnios, fetal position, nature of the malformation and unfamiliarity of the ultrasonographer with specific malformation syndromes. In vitro ultrasonography is an invaluable tool of diagnosing congenital malformations but has limitations.
First trimester monitoring of a pregnancy at risk for glucose phosphate isomerase deficiency
Authors: Dallapiccola B. , Novelli G. , Ferrant G. , Pachi A. , Cristiani M. L. , Magnani M.
Published: March 2007

First trimester prenatal diagnosis was offered to the mother of a child affected by severe haemolytic anaemia due to glucose phosphate isomerase (GPI) deficiency. The mutant enzyme was characterized by an increased thermal lability. Both parents had 50 per cent normal red cell GPI activity. We have shown that the homozygous and heterozygous genotypes can be clearly distinguished from each other and controls by combinations of the measurement of enzyme activity and enzyme thermal lability.

Examination of trophoblast cells obtained at 9 weeks of gestation led to the diagnosis of a GPI heterozygous fetus. The result was confirmed by analysis on uncultured and cultured amniotic fluid cells sampled at 16 weeks and by red blood cell studies of the healthy newborn.

Prenatal diagnosis of GPI deficiency is indicated in families with previous cases resulting in severe haemolysis and mainly with the conservative view of arranging appropriate therapeutic measures for affected fetuses.
Raised maternal serum alpha‐fetoprotein in the absence of fetal abnormality‐placental findings. A quantitative morphometric study
Authors: Boyd Patricia A. , Keeling Jean W.
Published: March 2007

Ten placentae from pregnancies proceeding to term from mothers who on routine screening at 16–18 weeks gestation were found to have a raised serum AFP but no increase in amniotic fluid AFP and no fetal abnormality, were studied using morphometric techniques. The results were compared with 20 placentae from normal term pregnancies where the maternal serum AFP level was not elevated. The mean total placental volume, volume of parenchyma and villous surface area were increased in the placentae associated with a raised maternal serum AFP. More of these placentae were infarcted and the fetal‐placental weight ratio was significantly lower.

The hypothesis that elevation of maternal serum AFP level is related to the increase in placental size is addressed.
Abnormal karyotype in the chorion, not confirmed in a subsequently aborted fetus
Authors: Breed A. , Mantingh A. , Govaerts L. , Boogert A. , Anders G. , Laurini R.
Published: March 2007

An abnormal fetal karyotype, containing a del 16(q21‐qter) as an extra chromosome, was diagnosed in all 14 metaphases examined in a sample of chorionic villous biopsy material. After elective abortion a mosaicism for this cell‐line together with a normal one was detected in the chorionic tissue. Fibroblast cultures from several fetal skin biopsies all revealed a normal karyotype.
Prune belly in trisomy 13
Authors: McKeown C. M. E. , Donnai D.
Published: March 2007

Prune belly (urethral obstruction sequence) has previously been reported as an isolated malformation sequence, in association with trisomy 18 (Nevin et al., 1983) and more recently with trisomy 13 (Beckman et al., 1984). A further case associated with trisomy 13 in a fetus is reported. This emphasizes the importance of karyotyping fetuses with prune belly identified prenatally.
Spontaneous abortion after transcervical chorionic villus sampling: A case report
Authors: Mackenzie W. E. , Rushton D. I.
Published: March 2007

A case of spontaneous abortion after transcervical CVS is presented. Despite no evidence of bacteria in the vagina and cervix prior to sampling and the prophylactic use of Metronidazole, pathological evidence of chorioamnionitis was found. The implications of this are discussed.
Fetal behaviour in growth retardation: Its relationship to fetal blood flow
Authors: Rizzo G. , Arduini D. , Pennestri F. , Romanini C. , Mancuso S.
Published: March 2007

The fetal behaviour of asymmetrical growth retarded fetuses was compared with that of a control group of healthy fetuses. Fetuses underwent simultaneous cardiotocographic and echographic examinations for two consecutive hours at 36–38 weeks of gestation. The distribution of gross fetal body movements, fetal breathing movements and fetal eye movements was analysed during the different fetal heart rate patterns. Furthermore, the incidence and organization of fetal behavioural states was investigated. The degree of vascular peripheral resistance was also evaluated by means of pulsed doppler ultrasonic equipmznt. Growth retarded fetuses were divided into two groups on the basis of the presence or absence of end diastolic flow in the fetal thoracic descending aorta.

Growth retarded fetuses showed a delay in the integration of behavioural patterns and a lower coincidence of behavioural states. These findings are particularly evident in the fetuses with a severe increase of peripheral vascular resistance (absence of end diastolic flow in descending aorta). Thus, we suggest that a delay in central nervous system development is present in asymmetrical growth retarded fetuses and that there is a possible relationship of this delay to the degree of peripheral vascular resistance.
Prenatal diagnosis of cystic fibrosis: Ultrasonographic appearance of meconium ileus in the fetus
Authors: Caspi Benjamin , Elchalal Uri , Lancet Moshe , Chemke Juan
Published: March 2007

Four often fetuses carrying a risk of 1:4 for cystic fibrosis were found to have low levels of microvillar enzymes in the amniotic fluid obtained between 17 and 18 weeks' gestational age. On sonography performed prior to the amniocentesis, three fetuses showed enlarged bowel loops. At autopsy, meconium ileus was detected. Enlarged bowel loops are a sign which has not been described previously so early in pregnancies.
Prenatal diagnosis, fetal pathology, and cytogenetic analysis of mosaic trisomy 14
Authors: Cheung Sau W. , Kolacki Paula L. , Watson Michael S. , Crane James P.
Published: March 2007

While true mosaicism occurs in only 0–25 per cent of genetic amniocenteses, nearly 2–5 per cent of amniotic fluid cell cultures contain a second cell line. In the common practice of prenatal diagnosis, an aberrant cell line confined to a single colony is usually disregarded. We present a case of mosaic trisomy 14 which was not detected on initial chromosome analysis. At birth, multiple malformations were apparent. Newborn cytogenetic studies revealed mosaicism [46,XX/46,XX,‐14,+i(14q)] with an isochromosome 14 in 37 per cent of lymphocytes. Additional cells from the initial amniotic fluid culture were analysed post‐delivery and the isochromosome 14 identified in only one of 12 total colonies.

This case illustrates two important lessons in prenatal diagnosis. First, amniotic fluid cell cultures may not accurately reflect the relative distribution of the normal and abnormal cell lines within a mosaic fetus. Second, while it is generally reasonable to disregard mosaicism confined to a single colony, this policy will, on rare occasion, result in diagnostic error. This should be taken into consideration, particularly when dealing with autosomal trisomies potentially compatible with livebirth.
Iniencephaly is not uniformly fatal
Authors: Katz Vern L. , Aylsworth Arthur S. , Albright Susan G.
Published: March 2007

Iniencephaly is an uncommon, but not rare, lesion involving a fusion between the posterior occipital bone and the cervical spine. Many cases are associated with other cranio‐cervical abnormalities and anencephaly, and most are associated with other structural abnormalities. The prognosis is thought to be dismal. We describe a male infant, one of twins, who was diagnosed prenatally as having iniencephaly. The child was born without complication and has grown and thrived. This is the fourth patient with long‐term survival with iniencephaly. We recommend that non‐directive counselling be applied when presenting the findings of iniencephaly to parents.
Prenatal diagnosis of turner syndrome using cells cultured from cystic hygromas in two pregnancies with normal maternal serum alpha‐fetoprotein
Authors: Golden Wendy L. , Schneider Bernard F. , Gustashaw Karen M. , Jassani Majida N.
Published: March 2007

In two cases of prenatally detected cystic hygroma with oligohydraminos, successful cytogenetic diagnosis of Turner syndrome was achieved using cells obtained from direct aspiration of the cystic hygroma. Exceptionally high levels of alpha‐fetoprotein were found in the cystic hygroma fluid, as might be expected. However, the maternal serum alpha‐fetoprotein levels were within normal limits. Elevated alpha‐fetoprotein levels in ‘amniotic fluid’ noted previously in the literature may have resulted because of inadvertent tapping of the cystic hygroma. It is clear from our cases that maternal serum levels of alpha‐fetoprotein will not necessarily be elevated and will not serve as a screening mechanism for cystic hygromas.
Amniotic fluid alpha‐fetoprotein and acetylcholinesterase measurements in pregnancies associated with gastroschisis
Authors: Goldfine Christina , Haddow James E. , Knight George J. , Palomaki Glenn E.
Published: March 2007

In this study we define for the first time the distribution of alpha‐fetoprotein levels and acetylcholinesterase ratios in amniotic fluid samples associated with fetal gastroschisis. Elevated alpha‐fetoprotein levels and positive acetylcholinesterase measurements are found in virtually all cases, indicating that these combined measurements are highly reliable in detecting this lesion.