bluuebunny/crossref_metadata_2025 huggingface dataset:
Holoprosencephaly: Prenatal diagnosis by sonography and magnetic resonance imaging
Authors: Tomà P. , Costa A. , Magnano G. M. , Cariati M. , Lituania M.
Published: March 2007

Magnetic resonance (MR) imaging was performed on two women at the 33rd and 34th pregnancy week, respectively, after ultrasonographic detection of a brain malformation. Fetal neuromuscular blockade was induced by pancuronium bromide injected into the umbilical vein under continuous ultrasound (US) guidance. MR images supported the echotomographic diagnosis of holoprosencephaly, improving the image quality and offering additional information in such cases of difficult differential fetal diagnosis. Holoprosencephaly was finally confirmed by neonatal US and autopsy (case 1), US, CT and MR (case 2).
Limb reduction and chorion villus sampling
Authors: Boyd P. A. , Keeling J. W. , Selinger M. , Mackenzie I. Z.
Published: March 2007

Upper limb reduction was diagnosed by ultrasound scan at 17 weeks after chorion villus sampling at 9 weeks' gestation. Pregnancy was terminated and necropsy confirmed limb reduction in an otherwise normal fetus. The relationship of limb reduction to amniotic band syndrome is discussed.
Ultrasound diagnostic features of twin reversed arterial perfusion sequence
Authors: Borrell Antoni , Pesarrodona Antoni , Puerto Bienvenido , Deulofeu Pere , Fuster Jordi Joan , Fortuny Albert
Published: March 2007

Two cases of twin reversed arterial perfusion (TRAP) sequence with relevant ultrasound features that would help an accurate diagnosis are described. Available management options are proposed and discussed.
Amniotic fluid acetylcholinesterase in the prenatal diagnosis of open neural tube defects and abdominal wall defects: A comparison of gel electrophoresis and a monoclonal antibody immunoassay
Authors: Loft A. G. Rasmussen , Nanchahal K. , Cuckle H. S. , Wald N. J. , Hulten M. , Leedham P. , Nørgaard‐Pedersen B.
Published: March 2007

Stored amniotic fluid samples collected in Oxford and East Birmingham as part of the Collaborative Acetylcholinesterase Study were assayed for the presence of acetylcholinesterase (AChE) using a monoclonal antibody (4F19) enzyme antigen immunoassay. These results were compared with the results of a gel AChE which had been performed earlier. A total of 5689 samples from singleton pregnancies were analysed (including 36 with anencephaly, 77 with open spina bifida and 17 with anterior abdominal wall defects). The gel test yielded detection rates of 97% for anencephaly, 99% for open spina bifida and 94% for abdominal wall defects; the false positive rate (excluding pregnancies associated with serious abnormalities, miscarriages and intrauterine deaths) was 0·24%. The monoclonal test yielded similar results; using appropriate cut‐off values to allow for differences in acetylcholinesterase levels in blood stained and clear samples, a similar false‐positive rate of 0·22% was associated with detection rates of 97%, 95 % and 71 % respectively for the three types of defect. Although the detection rates and the false positive rate were slightly higher for the gel test, a result that might be explained by a decrease in AChE activity caused by storage of the samples, the monoclonal test has the advantages of requiring less interpretative expertise, it can be performed on a larger number of samples a day and it is not affected by contamination with fetal calf serum.
Determinants of parental decisions to abort for chromosome abnormalities
Authors: Drugan Arie , Greb Anne , Johnson Mark Paul , Krivchenia Eric L. , Uhlmann Wendy R. , Moghissi Kamran S. , Evans Mark I.
Published: March 2007

Parental decisions concerning the continuation of pregnancy following prenatal detection of abnormal chromosomes were evaluated for 80 patients whose diagnosis and prenatal counselling were performed in our centre. Twenty‐two anomalies were diagnosed by chorionic villus sampling (CVS) and 58 by amniocentesis. The severity of the chromosome anomaly and associated ultrasound findings in the first vs. second trimester were correlated with patients' decisions. No difference was found in the likelihood of parental decisions to interrupt or continue a pregnancy between CVS and amniocentesis for either the‘severe’ or the‘questionable’ group of chromosome anomalies. Ninety‐three per cent of patients with severe prognosis and 27 per cent with questionable prognosis opted for pregnancy termination (p <0·0001). The association of ultrasound anomalies and termination was highly significant (p< 0·001). The severity of the chromosome anomaly, and, to a lesser extent, the visualization of anomalies on ultrasound were the major determinants of parental decisions to terminate the pregnancy. The diagnosis of an anomaly in the first trimester was no more likely ito lead to a termination of pregnancy than in the second trimester.
Ultrasonographic diagnosis of a fetal abdominal mass: A case of a mesenchymal liver hamartoma and a review of the literature
Authors: Hirata Greigh I. , Matsunaga Marsha L. , Medearis Arnold L. , Dixon Patricia , Platt Lawrence D.
Published: March 2007

A case of a prenatally recognized hepatic mesenchymal hamartoma is presented and the literature reviewed. These tumors are benign and usually present in early infancy with symptoms that are related to the mass effect on adjacent organs. Radiologic methods used in the past to image this tumor include angiography and ultrasound. However, there is no specific radiologic finding, and, therefore, the diagnosis is usually made during surgery. Once the tumor is removed, the prognosis is generally good. With the increasing use of high resolution ultrasound in prenatal diagnosis, this rare tumor should be considered in the differential diagnosis of any multicystic mass found in the fetal abdomen. The recognition of a mass should then alert the physician to the need for early neonatal intervention.
Central nervous system damage and other anomalies in surviving fetus following second trimester antenatal death of co‐twin. Report of four cases and literature review
Authors: Anderson R. L. , Golbus M. S. , Curry C. J. R. , Callen P. W. , Hastrup W. H.
Published: March 2007

Four cases of multiple gestation with second trimester death of one fetus and subsequent damage to a survivor are reported. Monochorionic placentation was documented in three of the cases. Central nervous system lesions occurred in all cases, and bowel injury was noted in two of the damaged fetuses. Although rare maternal clotting problems have been reported in similar situations, none was noted in any of these four cases. Prior reports have indicated that losses in the first half of gestation were of no consequence to the surviving fetuses. These four cases contradict this suggestion, and indicate that close sonographic observation of the survivors is important in any multiple gestation where one fetus has died.
Prenatal diagnosis of the infantile type of neuronal ceroid lipofuscinosis by electron microscopic investigation of human chorionic villi
Authors: Rapola Juhani , Salonen Riitta , Ämmälä Pirkko , Santavuori Pirkko
Published: March 2007

Chorionic villus biopsy specimens were studied electron microscopically in six pregnancies at risk of the infantile type of neuronal ceroid lipofuscinosis (INCL). The biopsy was performed in all cases in the first trimester of pregnancy (8–10 gestation weeks) by the transcervical route. In one case, the biopsy was repeated at 17 weeks by the transabdominal procedure. In two pregnancies, the endothelial cells and, to a lesser extent, the mesenchymal cells of the chorionic villi contained unit membrane‐bound inclusions typical of INCL. In both cases, the pregnancy was terminated and in one of them identical inclusions were found in the brains and kidneys of the fetus at 20 weeks of gestational age. The children from the remaining four pregnancies are healthy and have shown no signs of the disease.
Chorionic villus sampling for prenatal diagnosis in wales using DNA probes—5 years' experience
Authors: Upadhyaya Meena , Fryer Alan , Foat Graham , Robinson Denise , Quarrell Oliver , Roberts Adrian , Harper P. S.
Published: March 2007

Chorionic villi were sampled from 125 women who requested prenatal diagnosis, either for genetic disorders or because of advanced maternal age. Of these, 105 samples were obtained by the transcervical route and 20 were obtained by the transabdominal approach. The sampling success rate was 97 per cent (122/125). The mean maternal age of the patients was 31 years (range 17–44) and the mean gestational age at which the chorionic villus sampling was performed was 10 weeks (range 7–13 weeks). Seventy‐four of these diagnoses involved the use of DNA markers. The minimal size of the sample used for DNA diagnosis was 5 mg. Maternal contamination was detected in two samples. A diagnosis was provided on all but two samples. The fetal loss rate was high initially but fell to 1·9 per cent in 1988.
Correlation between phenotypic expression of de novo marker chromosomes and genomic organization using replicational banding
Authors: Cheung Sau W. , Crane James P. , Beaver Heidi
Published: March 2007

It has been suggested that actively expressed genes are primarily located in early replicating bands. This hypothesis is supported by cytogenetic and pregnancy outcome data from four consecutive cases of prenatally detected de novo marker chromosomes. Two fetuses with major anomalies had large early replicating bands, while the marker in a third phenotypically normal fetus was late replicating. In the fourth case, a ring marker chromosome had only a small early replicating region. Pregnancy termination was elected. While no structural malformations were apparent, potential intellectual function in this case remains unresolved. An understanding of the relationship between genomic organization and chromosome banding is critical in counseling for prenatally detected de novo marker chromosomes. Replicational banding is particularly helpful in recognizing genes that may be actively expressed and result in developmental abnormality.
Reduced fetal hepatic alpha‐fetoprotein levels in Down' S syndrome
Authors: Kronquist Kathryn E. , Dreazen Eli , Keener Sherry L. , Nicholas Thomas W. , Crandall Barbara F.
Published: March 2007

In the majority of pregnancies involving a Down' s syndrome (DS) fetus, the level of alpha‐fetoprotein (AFP) measured in maternal serum and amniotic fluid is reduced to about 70 per cent of the level attained in normal pregnancies. Causes of this decrease may include the production of an altered AFP molecule with modified turnover or transport properties, or a reduction in the level of AFP synthesis. We examined hepatic AFP mRNA transcripts and compared AFP polypeptide isoforms in liver tissue samples obtained from a group of DS and normal abortuses. No difference was detected in the structure of the AFP mRNA transcript or in the charge or mass of AFP polypeptides in the two sample groups. However, the hepatic AFP level, expressed as μg AFP/mg protein, was significantly lower in a group of 28 DS cases relative to a group of 47 normal controls (P = 0·04). This difference in hepatic AFP concentration did not appear to be the result of a general reduction in the level of total protein or total RNA production. The greatest difference between the AFP levels of the DS and normal groups was observed in the earliest samples examined (i.e., at 17–19 weeks of age) where the median AFP levels differed by about 20 per cent.
A revisit of trisomy 20 mosaicism in prenatal diagnosis—an overview of 103 cases
Authors: Hsu Lillian Y. F. , Kaffe Sara , Perlis Theresa E.
Published: March 2007

One hundred and three cases with prenatal diagnosis of trisomy 20 mosaicism through amniocentesis were reviewed. Approximately 90 per cent (90/101) of the cases were associated with grossly normal phenotype. It is likely that, in the majority of cases, cells with trisomy 20 were extraembryonic in origin or largely confined to the placenta. However, in some cases, the cells with trisomy 20 were confined to certain specific fetal organs or tissues such as kidney, skin, etc. Cytogenetic follow‐up studies in liveborns should include a culture from urine sediment.
Prenatal diagnosis of congenital my asthenia with arthrogryposis in a myasthenic mother
Authors: Stoll Claude , Ehret‐Mentre Marie‐Christine , Treisser Alain , Tranchant Christine
Published: March 2007

We studied two children born to a myasthenic mother. The first child, a female, had multiple flexion contractures. She died 1 h after birth. In the second pregnancy, 3 years later, ultra‐sonographic examination at 20 weeks showed decreased fetal movements and multiple flexion contractures. The pregnancy was interrupted. Eight other cases of congenital rnyasthenia with arthrogryposis are known; four of them are siblings. The recurrence risk may be as high as 100 per cent. Our second case demonstrates that prenatal diagnosis is possible early enough to allow termination of pregnancy.
A three‐year follow‐up on a child with low level trisomy 8 mosaicism which was diagnosed prenatally
Authors: Camurri Lamberto , Chiesi Annalisa
Published: March 2007

We report on a case of trisomy 8 mosaicism detected prenatally in a single clone of amniotic fluid culture, and confirmed on fetal blood and on peripheral lymphocytes after birth. A follow‐up was performed over 3 years, showing a clinically normal female with cognitive, neuropsychological, and linguistic development in a normal range.
Analysis of acylcarnitines in maternal urine for prenatal diagnosis of glutaric aciduria type 2
Authors: Sakuma Toru , Sugiyama Naruji , Ichiki Takashi , Kobayashi Masanori , Wada Yoshiro , Nohara Daisuke
Published: March 2007

The urinary acylcarnitine profiles of two mothers whose first children were diagnosed to have glutaric aciduria type 2 (multiple acyl‐CoA dehydrogenation deficiency, electron transfer flavoprotein (ETF) deficiency) were analysed in the second pregnancy. Large volumes of tigrylcarnitine and isovalerylcarnitine and a little glutarylcarnitine were detected. Each fetus was also diagnosed to be abnormal by enzyme activity and immunoassay of ETF protein. The acylcarnitines in the mothers' urine disappeared in 1 week after labour or artificial abortion. Acylcarnitines were never detected in the urine of controls.
Prenatal screening for chromosome abnormalities using maternal serum chorionic gonadotrophin, alpha‐fetoprotein, and age
Authors: Crossley J. A. , Aitken D. A. , Connor J. M.
Published: March 2007

Human chorionic gonadotrophin (hCG) levels were assayed retrospectively in stored maternal serum samples from 78 chromosomally abnormal pregnancies and 410 controls matched for gestation and maternal age. The median serum hCG concentration in 49 pregnancies with Down's syndrome was significantly elevated, at 2.18 multiples of the normal median. Significantly reduced hCG concentrations were found in a group of four trisomy 18 pregnancies (all less than 0.4 multiples of the median). Eight cases of unbalanced chromosome rearrangements appeared to show some lowering of hCG levels, while there was no significant difference in the levels in the cases of trisomy 13, balanced translocations, and sex chromosome abnormalities. Maternal serum hCG alone is a better indicator of Down's syndrome pregnancies than maternal age or maternal serum alpha‐fetoprotein (AFP), either individually or in combination, and provides a further virtually independent measure of risk. On the basis of our findings, screening for Down's syndrome using hCG and AFP results combined with maternal age risks is predicted to result in a higher detection rate (57 per cent) for a lower false‐positive rate (5.0 per cent) than would be attainable by combined AFP and age screening (37 per cent detection at a 6.6 per cent false‐positive rate).
Prenatal diagnosis of severe osteogenesis imperfecta
Authors: Constantine G. , McCormack J. , McHugo J. , Fowlie A.
Published: March 2007

The ultrasound findings in a series of 15 prenatally diagnosed cases of severe osteogenesis imperfecta types IIA, IIB, IIC, and III are described, eleven being detected on routine scans of women with no relevant history. As most cases of osteogenesis imperfecta type IIA are dominant sporadic mutations, the importance of prenatal diagnosis during routine scanning at a local level is emphasized. In addition to characteristic broad, shortened and fractured long bones, striking features of the chest and head are highlighted which may be encountered during a routine scan, prompting further assessment.
PRENATAL DIAGNOSIS OF CYSTIC HYGROMA AND CHORIOANGIOMA IN THE WOLF‐HIRSCHHORN SYNDROME
Authors: Verloes A. , Schaaps J. P. , Kerens C. , Soyeur D. , Hustin J. , Dodinval P.
Published: March 2007

We report the prenatal diagnosis of Wolf‐Hirschhorn syndrome (4p –) in a 24‐week‐old fetus. Echographic features included cystic hygroma, a complex heart defect with right ventricular hypoplasia, and a large placental chorioangioma. We suggest that chorioangioma may be associated with chromosomal imbalance and that systematic careful morphologic examination of the fetus and karyotyping of any pregnancy in which large chorioangioma is detected is advisable. Jugular lymphatic obstruction sequence has not been reported so far in association with 4p– syndrome.
‘False‐negative’ and ‘false‐positive’ prenatal cytogenetic results due to ‘true’ mosaicism
Authors: Hammer P. , Holzgreve W. , Karabacak Z. , Horst J. , Miny P.
Published: March 2007

A 37‐year‐old gravida was referred for CVS because of advanced maternal age. A trisomy 21 was present in all cells after short‐term incubation (direct processing (DP)) and long‐term culture. According to our policy, a retap was offered for confirmation of the result during the legally required 3‐day waiting period between communication of the result and termination of pregnancy. Unexpectedly all cells after DP showed a normal male chromosome complement. Further investigations revealed mosaicism in trophoblast tissue and a normal karyotype in amniotic fluid cells and fetal blood (50 mitoses each). The parents elected to continue the pregnancy after extensive ultrasound examinations did not show suspicious findings. After the birth of a healthy child, cell cultures from ten different placental sites confirmed mosaicism. Four out of 100 mitoses from a lymphocyte culture showed an additional chromosome 21. The child had no dysmorphic features and the development was normal at the age of 10 weeks. This case demonstrates the restricted validity of prenatal cytogenetic analysis in the presence of true fetal mosaicism. It also stresses the benefit of our policy to offer a retap in cases with abnormal cytogenetic results prior to termination of pregnancy which is considered unnecessary by many cytogeneticists.
Prenatal diagnosis of lissencephaly
Authors: Saltzman Daniel H. , Krauss Celeste M. , Goldman Janet M. , Benacerraf Beryl R.
Published: March 2007

We report two cases of prenatal detection of lissencephaly by high‐resolution ultrasound. The first case studied was referred for high‐risk obstetrical management and serial antenatal ultrasounds because of a family history of lissencephaly in an unresolved chromosomal abnormality. Diagnosis of a smooth gyral pattern consistent with lissencephaly was made at 32 weeks' gestation. The second case was referred for prenatal ultrasound because of a size versus dates discrepancy. The ultrasound examination showed a smooth gyral pattern at 31.5 weeks. In light of this ultrasound finding, a fetal blood sample was obtained and a chromosomal abnormality reported, confirming the diagnosis. To our knowledge, these cases represent the first report of the sonographic prenatal diagnosis of cerebral agyria or lissencephaly.
Prenatal diagnosis for huntington's disease: A molecular and psychological study
Authors: Spurdle Amanda , Kromberg Jennifer , Rosendorff Jennifer , Jenkins Trefor
Published: March 2007

Two linked probes were used to determine the Huntington's disease status of the fetus conceived by a woman affected with the condition. The fetus was found to be unaffected with a certainty of 97 per cent. The ethical issues associated with presymptomatic testing were avoided since the mother presented with initial symptoms of Huntington's disease, but other psychological and ethical issues arose. The concerns of an affected woman planning a pregnancy, and the dilemmas involved in decision‐making regarding prenatal diagnosis and possible selective abortion were exposed and explored with the patient and her husband.
Astomia‐agnathia‐holoprosencephaly association. Prenatal diagnosis of a new case
Authors: Rolland M. , Sarramon M. F. , Bloom M. C.
Published: March 2007

A case of agnathia‐astomia‐holoprosencephaly with prenatal ultrasound diagnosis at 23 weeks is reported and discussed. This lethal neurocristopathy, well known in mammalians, is rarely observed in humans. Prenatal diagnosis features are intrauterine growth retardation, mandible absence or major hypoplasia, holoprosencephaly, cyclopia or hypotelorism, and in some instances frontal proboscis. This malformation is usually sporadic, but may be genetically determined as an autosomal recessive trait, since two cases in the same sibship have been reported.
First‐trimester diagnosis of an unusual case of α‐mannosidosis
Authors: Petushkova N. A.
Published: March 2007

Chorionic villi obtained in the first trimester from a pregnancy at risk for α‐mannosidosis were shown to have reduced α‐mannosidase (EC 3.2.1.24) activity. The pregnancy was terminated and subsequent enzyme studies of the fetal tissues were consistent with the diagnosis of α‐mannosidosis. Like the enzyme in the child's fibroblast, α‐mannosidase of the chorionic villi from a pregnancy at risk for α‐mannosidosis was activated by high substrate concentration and by Zn2 +, and displayed a Km value two‐fold higher than normal. Our results confirm that chorionic villi can be used for early prenatal diagnosis of α‐mannosidosis.
Randomized clinical trial of transabdominal versus transcervical chorionic villus sampling methods
Authors: Brambati Bruno , Terzian Emanuela , Tognoni Gianni
Published: March 2007

The relative advantages and disadvantages of transabdominal (TA) and transcervical (TC) chorionic villus sampling (CVS) in terms of fetal risks and efficacy were evaluated in a clinical trial conducted on 1194 women randomized at 7–12 weeks' gestation. The results of the study indicate that, if any, the relative risk of fetal loss following either procedure is less than double that of the alternative technique when performed by a skilled operator. Overall, the fetal loss rate (spontaneous abortions following randomization, terminations of pregnancy, and perinatal deaths) is 16.5 and 15.5 per cent, respectively, among women allocated to TA‐ and TC‐CVS. The two procedures are equally effective, although TA‐CVS is associated with a significantly lower rate of repeat device insertions; on the other hand, a higher weight of chorionic tissue is obtained, on average, with TC‐CVS. Bleeding is more common following TC‐CVS, while peritoneal reaction developed only after TA‐CVS. No diagnostic problems specifically related to one sampling technique were identified.
Pancreatic and sacral agenesis in association with maternal diabetes mellitus: Case report
Authors: Johnson Pam , Seller Mary J. , Morrish Nick , Neales Kate , Maxwell Darryl
Published: March 2007

Sacral agenesis was diagnosed sonographically in the fetus of a diabetic mother and pancreatic agenesis was found additionally at autopsy.
Expression of fragile‐x in a female fetus diagnosed after chorionic villus sampling
Authors: Webb Tessa
Published: March 2007

Study of different tissues of an aborted female fetus showed similar levels of fragile‐X expression (6.3–9.2 per cent) and of early replication of the FRAXA‐positive cells (50–66 per cent) in fetal tissues. Different culture media did not significantly affect either investigation. It is suggested that the distribution of X‐inactivation in FRAXA‐positive chorionic villus cells of a female fetus might indicate her future phenotype.
Partial trisomy 22q12→qter in prenatal diagnosis
Authors: Tolkendorf Erika , Mehner Gunter , Prager Bettina
Published: March 2007

Ultrasound examination of a 27‐year‐old primigravida at 26 weeks' gestation revealed fetal growth retardation, malformation of the ventricular septum, and a neck fold. Chromosome analysis of the amniotic fluid showed an abnormal 46,XY karyotype with an obvious meta‐centric chromosome 17. Chromosome analysis of the mother revealed a balanced t (17;22) (p13;q12) translocation. The fetus thus has a rare familial duplication 22q12→qter. Eight live‐born and severely malformed infants with this duplication have been reported in the literature.
Enhancement of amniocyte growth on a precoated surface
Authors: Chang Hsiao‐Chen , Jones Oliver W.
Published: March 2007

This study investigates whether cell‐free amniotic fluid facilitates cell attachment to the surface of culture plates and thereby promotes rapid amniocyte growth. Isolated or pooled cell‐free amniotic fluid samples at different volumes were added to culture plates. Trypsinized subcultures, grown in Eagle's minimum essential alpha medium supplemented with fetal bovine serum (4–20 per cent), were monitored by cell counts. The results demonstrated growth stimulation on culture plates precoated with amniotic fluid. The minimal time for coating the culture plates was 6h. Maximal coating was observed after an overnight incubation with 2–3 ml of the fluid per culture vessel. No synergistic effect from addition of fetal bovine serum to amniotic fluid was observed. A freshly coated surface provided the best amniocyte growth.

When primary cultures are grown on a precoated surface, there is an increase in colony counts in 80 per cent of the samples tested. This method may be used to improve amniocyte growth, especially in samples with relatively small numbers of cells.
β‐Glucuronidase deficiency as a cause of prenatally diagnosed non‐immune hydrops fetalis
Authors: Lissens W. , Dedobbeleer G. , Foulon W. , de Catte L. , Charels K. , Goossens A. , Liebaers I.
Published: March 2007

We describe a case of β‐glucuronidase deficiency presenting as a non‐immune hydrops fetalis diagnosed at 26 weeks of gestation. The deficiency was disclosed on cultured amniotic fluid cells and in fetal plasma and was confirmed post‐abortion. In a second pregnancy, a normal β‐glucuronidase activity was found in extracts of chorionic villi obtained at 10 weeks of gestation. The pregnancy is continuing uneventfully. We conclude that it is of great importance to verify the presence of metabolic disease whenever the major causes of hydrops fetalis have been excluded.
The efficacy of maternal age screening for Down's syndrome in Wessex
Authors: Youings Sheila , Gregson Nina , Jacobs Patricia
Published: March 2007

The uptake of amniocentesis in Wessex for the period 1986–1988 was 36 per cent (2873 of 8004 births), a proportion that has not altered significantly since 1984. There is a large difference in uptake between women in the lower risk age group, 35–36 years, and those in the higher risk group, 37 + years, and very considerable differences in uptake among different districts. The prenatal detection over the 3‐year study period for women aged 35 or more, after correction for spontaneous loss of Down's syndrome fetuses between prenatal detection and birth, is 53 per cent, a figure that must be inflated due to our failure to ascertain all liveborn Down's syndrome patients.
A normal 46,XX infant with a 46,XX/ 69.XXY placenta: A major contribution to the placenta is from a resorbed twin
Authors: Callen D. F. , Fernandez H. , Hull Y. J. , Svigos J. M. , Chambers H. M. , Sutherland G. R.
Published: March 2007

A predominantly triploid 69,XXY placenta was found associated with a normal 46,XX infant. Therefore, a triploid placenta is apparently capable of supporting normal fetal development. The chromosome and pathological results support the conclusion that the triploid placenta originates from a ‘vanishing twin’ pregnancy. This case is unusual in that persistence of the placenta from the vanished twin has virtually replaced most of the normal placenta.
Duplication of chromosome 11 centromere in fetal and maternal karyotypes: A new variant?
Authors: Till M. , Rafat A. , Charrin C. , Plauchu H. , Germain D.
Published: March 2007

Fetal chromosome analysis in a 39‐year‐old mother revealed a chromosome 11 aberration interj ireted as a duplication of the centromere. This was also found in the mother's karyotype, raising the possibility that the abnormality was a new variant of no clinical consequence.
Prenatal diagnosis of duplication cyst of the pylorus
Authors: Goyert Gregory L. , Blitz Donald , Gibson Peter , Seabolt Laurie , Olszewski Mary , Wright Debra J. , Schwartz David B.
Published: March 2007

The first description of the antenatal appearance of a duplication cyst of the pylorus is presented. Prior to the infant's delivery, the possibility that this intra‐abdominal cystic mass represented a choledochal cyst was also strongly considered. The antenatal detection of this cystic mass allowed close neonatal surveillance and timely surgical intervention prior to the onset of serious neonatal complications. The embryogenesis of duplication cysts of the gastrointestinal tract and bronchopulmonary foregut malformations is reviewed. The clinical utility of the prenatal diagnosis of such fetal gastrointestinal anomalies is also discussed.
Follow‐up and pregnancy outcome after a diagnosis of mosaicism in CVS
Authors: Breed A. S. P. M. , Mantingh A. , Vosters R. , Beekhuis J. R. , van Lith J. M. M. , Anders G. J. P. A.
Published: March 2007

In 2103 consecutive diagnostic chorionic villus samples, examined in a 4‐year period in our clinical genetics unit, 26 samples (1.2 per cent) presented chromosomal mosaicism in the direct and/or long‐term culture preparations. Only once (46,XX/47,XX,+9) was the mosaicism confirmed in the fetus. In the cytogenetic follow‐up studies of the remaining 25 pregnancies, in no cases could the aberration be confirmed in amniotic fluid or fetal tissue. One patient requested a termination after the CVS result. Of the remaining 24 pregnancies, four (16.7 per cent) ended in a spontaneous abortion. These findings suggest an association between placental mosaicism and fetal loss.
Alpha‐fetoprotein in fetal serum, amniotic fluid, and maternal serum
Authors: van Lith J. M. M. , Beekhuis J. R. , van Loon A. J. , Mantingh A. , de Wolf B. T. H. M. , Breed A. S. P. M.
Published: March 2007

In order to gain more insight into the association between alpha‐fetoprotein (AFP) and fetal chromosomal disorders, especially Down's syndrome, we measured AFP in fetal serum, amniotic fluid, and maternal serum at cordocentesis. We compared the concentration and gradient of AFP in these three compartments. Our data confirm earlier findings on second‐trimester fetal serum AFP concentration. The results indicate that low maternal serum AFP in pregnancies with fetal chromosomal disorders could result from an impaired fetal kidney function as well as from impaired membrane or placental passage of AFP, rather than from reduced fetal AFP production.
The spontaneous resolution of cystic hygromas and early fetal growth delay in fetuses with trisomy 18
Authors: Hill Lyndon M. , Macpherson Trevor , Rivello Dawn , Peterson Carol
Published: March 2007

The spontaneous resolution of cystic hygromas in fetuses with trisomy 18 may be due to a delay in lymphatic‐vascular anastomosis. The severity of growth delay with trisomy 18 appears to be variable in time of onset and extent.
Prenatal diagnosis in advanced maternal age. Amniocentesis or CVS, a patient's choice or lack of information?
Authors: Brandenburg H. , van der Zwan L. , Jahoda M. G. J. , Stunen Th. , Wladimiroff J. W.
Published: March 2007

Ninety‐six women of advanced maternal age were interviewed about the way they obtained information on prenatal diagnosis and about how the decision was made as to what procedure was to be performed (transabdominal chorionic villus sampling (TA‐CVS) or amnio‐centesis). In the CVS group, women visited their physician or midwife earlier in pregnancy (mean 7.1 weeks) than those in the amniocentesis group (mean 10.7 weeks). The availability of prenatal diagnosis was not mentioned during the first antenatal visit in 55 per cent of women from the amniocentesis group as opposed to 25 per cent from the TA‐CVS group. Approximately 40 per cent of women eligible for prenatal diagnosis did not receive any information from the referring body prior to counselling at our centre. Only 29 per cent of women who underwent amniocentesis had actually chosen this procedure; 71 per cent were too late to undergo TA‐CVS at 12 weeks. It is concluded that information to the patient must be improved in order to ensure early referral for prenatal diagnosis.
Trophoblast‐like cells sorted from peripheral maternal blood using flow cytometry: A multiparametric study involving transmission electron microscopy and fetal dna amplification
Authors: Bruch J. F. , Metezeau P. , Garcia‐Fonknechten N. , Richard Y. , Tricottet V. , Hsi B.‐L. , Kitzis A. , Julien C. , Papiernik E.
Published: March 2007

Three monoclonal antibodies (MAbs) against trophoblast (GB17, GB21, and GB25) and flow cytometry were used to sort trophoblast‐like cells (TLCs) from peripheral blood of pregnant women. Sorted TLCs were processed for electron microscopy and fetal DNA amplification of the Y‐specific sequences from mothers carrying male fetuses. At the ultra‐structural level, most of the nucleated cells had the morphology of leucocytes, suggesting maternal contaminants, and we did not find the characteristic features of the free inter‐villous trophoblast cells. Nevertheless, polymerase chain reaction (PCR) analysis showed an amplification of Y‐specific sequences in two out of three samples of sorted TLCs.

These results suggest that besides the maternal leucocytes, sufficient trophoblast nucleated fetal cells can be obtained using cell enrichment by sorting. This sensitive method holds promise for non‐invasive prenatal diagnosis of fetal sex and if sufficient Y(positive) nuclei are found, for the diagnosis of selected numerical chromosome abnormalities.
Alpha‐fetoprotein and acetylcholinesterase are not predictive of fetal junctional epidermolysis bullosa, Herlitz variant
Authors: Shulman Lee P. , Elias Sherman , Andersen Richard N. , Phillips Owen P. , Milunsky Aubrey , Holbrook Karen A. , Smith Lynne T. , Fine Jo‐David , Simpson Joe Leigh
Published: March 2007

Junctional epidermolysis bullosa, Herlitz variant (junctional EB‐Herlitz) is a lethal autosomal recessive skin disorder currently amenable to prenatal diagnosis only by direct analysis of fetal skin. However, elevated levels of alpha‐fetoprotein, as well as the presence of acetylcholinesterase in amniotic fluid, have been associated with other severe fetal genodermatoses. Fetal skin samplings were performed in ten pregnancies at risk for fetal junctional EB‐Herlitz, with three fetuses affected on the basis of electron microscopic detection of blisters within the lamina lucida and abnormal hemidesmosomes. In neither affected nor unaffected pregnancies were maternal serum or amniotic fluid alpha‐fetoprotein levels elevated. Moreover, alphafetoprotein levels in both maternal serum and amniotic fluid were not statistically different comparing affected and unaffected fetuses. Acetylcholinesterase was not present in the amniotic fluid samples of the three affected pregnancies. Unlike other severe fetal genodermatoses, neither alpha‐fetoprotein nor acetylcholinesterase was predictive of junctional EB‐Herlitz.
Prenatal diagnosis of 21‐hydroxylase deficiency by rflp analysis of the 21‐hydroxylase, complement C4, and HLA class II genes
Authors: Keller E. , Andreas A. , Scholz S. , Dörr H. C. , Knorr D. , Albert E. D.
Published: March 2007

In 19 pregnancies at risk for 21‐hydroxylase deficiency (21OHD) in 18 families with at lea one affected child, prenatal diagnosis was performed by RFLP analysis using the enzymi Taq I and EcoRI and the DNA probes specific for the 21 OH genes, the closely linke complement C4 genes and the highly polymorphic HLA class II genes DRB, DQB, and DPI For fetal DNA analysis either chorionic villi or cultivated amniotic cells were used. In all 1 cases, a clear prenatal diagnosis was possible either with the 21OH probe alone or in mo cases, by combining the results of the different closely linked loci.
Routine cytogenetic prenatal diagnosis using dynamic banding (RBG‐GBG): A highly reproducible method for amniocytes, fetal cord blood, and chorionic villus investigations
Authors: Savary J. B. , Vasseur F. , Lai J. L. , Daudignon A. , Deminatti M.
Published: March 2007

Dynamic banding (RBG‐GBG) using pulse 5‐bromodeoxyuridine (5‐BrdU) incorporation during part of the last S‐phase before harvesting has been used in prenatal investigations. This method has already been routinely applied in 1344 cytogenetic investigations. GBG and RBG bandings produced almost identical patterns to classical G‐ and R‐banding methods except for heterochromatic portions and some euchromatic segments. Nevertheless, these discordances may be somewhat helpful for cytogenetic diagnosis (i.e., X numerical abnormalities). The results showed particularly good contrast and staining; 5‐BrdU incorporation did not prevent additional staining. Likewise, previous RBG or GBG disclosure allowed further chromosomal identification with C‐banding or nucleolar organizer staining. Simplicity and reproducibility were very helpful in cases with a low mitotic index. 5‐BrdU had no significant effect on in‐vitro damage because only 0.31 per cent of cells were affected; so, we believe that dynamic banding should be used more extensively in cytogenetic investigations. Moreover, the staining and contrast qualities were very suitable for automatic methods of analysis now in use: i.e., metaphase finding and computer‐assisted karyogram creation.
Women's opinions on the offer and use of prenatal diagnosis
Authors: Tymstra Tj. , Bajema C. , Beekhuis J. R. , Mantingh A.
Published: March 2007

We have studied the opinions and attitudes of women towards prenatal diagnosis (amnio‐centesis/chorionic villus sampling/ultrasound/serum AFP testing). A questionnaire was sent to 185 women who had had their first baby a few months before. The respondents have a strong positive attitude towards the diagnostic procedures, especially if treatable abnormalities can be detected. Younger women and women with a high level of education were less inclined to make use of prenatal diagnosis. If tests were made more widely available, this might lead to a significant increase in the use of prenatal diagnosis.
Comparative audit of booking and mid‐trimester ultrasound scans in the prenatal diagnosis of congenital anomalies
Authors: Constantine G. , McCormack J.
Published: March 2007

During 1988 and 1989, 3565 women booked under consultants who performed an ultrasound scan at booking, whilst 4984 booked under consultants who performed a formal mid‐trimester scan between 16 and 18 weeks. All significant anomalies diagnosed prenatally and in the neonatal period were recorded, the incidence in each group being 12.9/1000 and 9.83/1000, respectively (NS).

The sensitivity of diagnosis before 20 weeks was 45 per cent in the ‘mid‐trimester’ group (kappa 0.62) compared with 30 per cent in the ‘booking’ group (kappa 0.46), overall sensitivity of prenatal diagnosis, however, being similar in both groups (63 vs. 65 per cent, kappa 0.77 vs. 0.79). Cardiac anomalies were the single largest group which were not detected equally prenatally in both groups.

This study shows that formal mid‐trimester scanning leads to anomalies being detected significantly earlier in the antenatal period. Although not statistically significant, three lethal anomalies were missed prenatally in the ‘booking’ group which we would have expected to diagnose on a mid‐trimester scan. These figures are discussed in the light of previous reports.
Can gestational dates routinely derived from very early ultrasound be used to interpret maternal serum alpha‐fetoprotein measurements?
Authors: Haddow James E. , Holman Mary S. , Palomaki Glenn E.
Published: March 2007

This study assesses the reliability of estimating gestational age via crown‐rump or gestational sac measurements obtained at 8 weeks' gestation or earlier as part of routine physician office practice. To accomplish this, we studied 88 pregnancies managed at 45 different sites in which both an early first‐trimester ultrasonically‐derived gestational age estimate and a second‐trimester biparietal diameter (BPD) estimate were available. The first‐and second‐trimester determinations were highly correlated, but the first‐trimester determinations were, on average, 0.43 weeks earlier than the second. The first‐trimester estimates were satisfactory for use in interpreting maternal serum alpha‐fetoprotein (MSAFP) screening measurements, but second‐trimester BPD measurements obtained prior to MSAFP screening should be the method of choice for interpreting MSAFP values, due to the increased sensitivity for detecting open spina bifida.
Preconception and preimplantation diagnosis for cystic fibrosis
Authors: Verlinsky Yury , Rechitsky Svetlana , Evsikov Serge , White Melody , Cieslak Jeanine , Lifchez Aaron , Valle Jorge , Moise Jacob , Strom Charles M.
Published: March 2007

Preimplantation diagnosis provides couples at high genetic risk the possibility of avoiding genetic disease without the need for prenatal diagnosis and selective abortion of the affected pregnancy. Following extensive background work on the reliability of genetic diagnosis in a single cell, we offered on a research basis preimplantation diagnosis to five couples at risk for offspring with the delta‐F508 mutation (the major mutation causing cystic fibrosis). There was no detrimental effect from polar body removal on either fertilization or preimplantation development. Genetic analysis, undertaken in 22 polar bodies and 15 corresponding blastomeres, identified 21 embryos of which ten were transferred.
Adverse outcome in pregnancy following amniotic fluid isolation of Ureaplasma urealyticum
Authors: Gray David Jeffrey , Robinson Haynes B. , Malone James , Thomson Richard B.
Published: March 2007

Infections in pregnancy with Ureaplasma urealyticum have been associated with a wide range of adverse outcomes, such as early abortion, stillbirth, prematurity, and neonatal morbidity and mortality. Causality has been difficult to demonstrate secondary to the high prevalence of asymptomatic lower genital tract (LGT) colonization and culture data from inaccessible or potentially contaminated sites.

Between 1985 and 1989, 2461 second‐trimester genetic amniocenteses were evaluated at the cytogenetics section of the Children's Hospital Medical Center of Akron. All were cultured for the genital mycoplasmas: Mycoplasma hominis and Ureaplasma urealyticum. A total of nine patients were positive, all for Ureaplasma urealyticum, with one patient excluded because of subsequent therapeutic abortion. In addition, complete follow‐up data, such as indication for amniocentesis, serum alpha‐fetoprotein levels, gestational age at parturition, and out‐ come of pregnancy, were available on 86 Ureaplasma‐negative (U –) patients during an approximate 2‐year span within the time‐frame of the study. This was in part due to physician response to a questionnaire sent after amniocentesis.

Of the eight positive cultures, 100 per cent were associated with an adverse outcome, defined as fetal loss or premature delivery. This was significant compared with the U–group (p<0.001) with a more than eight times greater risk of adverse outcome. Six (75 per cent) resulted in spontaneous miscarriage within 4 weeks of amniocentesis and at less than 21 weeks' gestation. Two (25 per cent) delivered prematurely, with one (12.5 per cent) neonatal death at 24+ weeks. Histological examination of all eight placentae and the seven fetuses revealed a 100 per cent incidence of chorioamnionitis and pneumonia, respectively. In addition, in four of the five cases (80 per cent), cultures were positive for Ureaplasma urealyticum in pure culture from either placenta, fetal lung, or both tissues. The remaining case (20 per cent) was negative for aerobes, anaerobes, and mycoplasmas.

The study demonstrates a significant association and supports a causal relationship between isolation of Ureaplasma from mid‐trimester amniotic fluid with fetal wastage and premature birth.
Contribution of a New PCR assay to the prenatal diagnosis of congenital toxoplasmosis
Authors: Cazenave Jean , Forestier Francois , Bessieres Marie Hélène , Broussin Bernard , Begueret Joël
Published: March 2007

A polymerase chain reaction (PCR) assay has been developed for the detection of Toxoplasma gondii. The target sequence (88 bp) is part of a rDNA repetitive gene. A signal can be observed with only one parasite. It is directly and rapidly detected by electrophoresis and ethidium bromide staining. We report a prospective study of 80 documented cases of toxoplasmic seroconversions during pregnancy. The PCR assay of the amniotic fluids was compared with the current standard methods for diagnosis of fetal infection. Seventy specimens gave no PCR signal, and were negative according to prenatal tests and postnatal examinations. The presence of T. gondii was detected in ten specimens by PCR analysis. Four were confirmed by isolation of the parasite from the amniotic fluid; four by biological study of the fetal blood. For the remaining two, infection was diagnosed after birth. Together with ultrasonographic and biological data, this technique permits prenatal diagnosis within 1 day.
Postnatal placental confirmation of trisomy 2 and trisomy 16 detected at chorionic villus sampling: A possible association with intrauterine growth retardation and elevated maternal serum alpha‐fetoprotein
Authors: Fryburg J. S. , Dimaio M. S. , Mahoney M. J.
Published: March 2007

Detection of trisomy 2 and trisomy 16 mosaicism through chorionic villus sampling (CVS) is not an infrequent finding. We describe here two cases, one of non‐mosaic trisomy 2 and the other of high level mosaicism for trisorny 16. Amniocentesis in both cases demonstrated non‐mosaic 46,XY karyotypes. Each pregnancy continued to delivery of liveborn, normal‐appearing boys; both pregnancies were complicated by severe intrauterine growth retardation (IUGR). Postnatal studies of placental biopsies in both cases confirmed the original CVS findings, whereas cord blood karyotypes were normal in both boys. Both children have demonstrated adequate catch‐up growth.
Apparent non‐mosaic trisomy 16 in chorionic villi: Diagnostic dilemma or clinically significant finding?
Authors: Williams John , Wang Boris B. T. , Rubin Cathi H. , Clark Robin D. , Mohandas T. K.
Published: March 2007

A case is presented in which apparent non‐mosaic trisomy 16 was found in chorionic villi (direct and culture) obtained from a patient undergoing first‐trimester prenatal diagnosis. The fetal karyotype subsequently was determined to be 46,XX by follow‐up amniocentesis. Serial ultrasonographic examinations revealed placental sonolucencies and intrauterine growth retardation. At 37 weeks, a small‐for‐gestational‐age female was delivered by Caesarean section for fetal distress. Postnatal cytogenetic studies revealed a normal female karyotype in cord blood and mosaic trisomy 16 in plaental tissues. These findings suggest that in cases where aneuploidy is confined to placental tissues, it may have biological significance, as evidenced by the apparent placental dysfunction and poor fetal growth in this case.