Prenatal Diagnosis 1991: Vol 11 Table of Contents

15 Pages·1991·2.7 MB·English

1991 Volume11
PRENATAL
DIAGNOSIS
A WILEY MEDICAL PUBLICATION
ISSN 0197-3851
Indexed or abstracted by ‘Ad Referendum (info- Med)’, ‘BIOSIS’, ‘Cambridge Scientific Abstracts’, ‘Chemical Abstracts
Service’, ‘Current Awareness in Bio. Sciences’, ‘Current Contents’ ‘Excerpta Medica’, ‘Index Medicus’, ‘Midwives info &
Resource Service’, ‘Reference Update’. ‘Repro. Res. Info. Services Ltd", ‘Science Citation Index’, ‘“SCISEARCH
Database’, ‘SIIC’, "VINITI-USSR Acad. of Sciences
Copyright © 1991 by John Wiley & Sons, Ltd.
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PRENATAL DIAGNOSIS
Editor-in-chief M.A. Ferguson-Smith, Departmento f Pathology, University of
Cambridge, Tennis Court Road, Cambridge CB2 10P, U.K.
Editor for M. M. Kaback, University of California, San Diego, UCSD
North America Medical Center, Department of Pediatrics, H-814, 225 Dickinson
Street, San Diego, CA 92103, U.S.A.
Editor for C. H. Rodeck, Department of Obstetrics and Gynaecology,
Europe University College and Middlesex School of Medicine, University
College London, 86-96 Chenies Mews, London WC1E 6HX, U.K.
Editorial Board
L. Allan, C. Gosden, M. Monk,
London, UK Edinburgh, UK London, UK.
P. Aula, J. E. Haddow, J. Murken,
Turku, Finland. Maine, USA Munich, Germany
P. F. Benson, J. L. Hamerton, U. Nicolini,
Sharjah, United Arab Emirates. Winnipeg, Canada Milan, Italy.
R. L. Berkowitz, J.M. Old,
New York, USA M. Hansmann, Oxford, UK
Bonn, Germany
M. Bobrow, J. Philip,
London, UK J.C. Hobbins, Copenhagen, Denmark
Connecticut, USA
A. Boué, H. P. Robinson,
Paris, France W. Holzgreve, Melbourne, Australia
B. Brambati, Munster, Germany D. |. Rushton,
Milan, Italy L. Y. F. Hsu, Birmingham, UK
D. J. H. Brock, New York, USA G. Simoni,
Edinburgh, UK Y. W. Kan, Milan, Italy
D. Coleman, California, USA N. J. Wald,
London, UK London, UK
W. J. Kleijer,
L. Dallaire, Rotterdam, The Netherlands D. Warburton,
Montreal, Canada New York, USA.
D. M. Danks, A. McDermott, M. J. Whittle,
Victoria, Australia Bristol, UK Birmingham, UK
K. E. Davies, M. Mikkelsen, R. Williamson,
Oxford, UK Glostrup, Denmark London, UK
M. Golbus, B. Modell, J.W. Wiladimiroff,
California, USA London, UK Rotterdam, The Netherlands.
AIMS AND SCOPE
The aim of the journal is to communicate the results of original research in a variety of clinical and scientific specialities
concerned with jn utero diagnosis of fetal abnormality in man (and animal models) resulting from genetic and environ-
mental factors. This is considered to encompass genetic and other forms of screening aimed at identifying pregnancies
at risk of fetal abnormality; the epidemiology and pathology of fetal abnormality (including fetal infection); fetal and
maternal factors relating to intrauterine development; antenatal care in relation to the treatment and prevention of fetal
abnormality; genetic counselling and selective termination of pregnancy; psychosocial aspects of prenatal diagnosis;
the development and evaluation of services for prenatal diagnosis; developments in the field of obstetric ultrasound,
fetoscopy and fetal blood sampling; the application of recombinant DNA technology and genetic linkage to the
prenatal diagnosis of single gene defects; advances in amniotic cell culture techniques for the prenatal diagnosis of
chromosome aberrations and metabolic defects
EDITORIAL POLICY
The overriding criteria for publication are originality, a high scientific quality and interest to a wide audience of those
concerned with all aspects of prenatal diagnosis research. The journal provides a multidisciplinary forum for the
exchange of information by which it is hoped to increase knowledge about the aetiology and pathogenesis of fetal
abnormality and to promote further opportunities for its treatment and prevention. Papers not sufficiently substantiated
by experimental detail will not be accepted, and although technical queries will be referred back to the author, the
Editor reserves the right to make alterations in the text without altering the technical content
JOHN WILEY & SONS
Chichester - New York - Brisbane - Toronto - Singapore
A Wiley Medical Publication
PRDIDM 11 1-938 (1991) ISSN 0197-3851

PRENATAL DIAGNOSIS
(Prenat. diagn.)
CONTENTS
VOLUME 11, ISSUE Nos. 1-12
Issue No. 1, January
Trisomic Pregnancies Have Normal Human Chorionic Gonadotropin
Bioactivity: P. G. Kratzer, M. S. Golbus, D. E. Finkelstein and R. N.
Taylor.
A Revisit of Trisomy 20 Mosaicism ii n Prenatal Diegnosis—An Overview
of 103 Cases: L. Y. F. Hsu, S. Kaffe and T. E. Perlis
Prenatal Diagnosis of Congenital Myasthenia with Arthrogryposis ii na
Myasthenic Mother: C. Sto//, M.-C. Ehret-Mentre, A. Treisser and C.
Tranchant .
Women’s Choices for Fetal Chromosome Analysis: L. Abramsky end
C. H. Rodeck
Birth Prevalence of Down's Syndromei in1 England and Wales: H. Cuckle,
K. Nanchahal and N. Wald . ;
Cytogenetic Studies of Amniotic Fluid Taken Before the 1 Sth Week of
Pregnancy for Earlier Prenatal Diagnosis: A Report of 114 Consecu-
tive Cases: M. T. Rebello, C. T. H. Gray, D. E. Rooney, J. H. Smith,
G. A. Hackett, F. E. Loeffler, D. H. Horwell, R. W. Beard and D. V.
Coleman
Extraction of DNA from Amniotic Fluid Cells for the Early Prenatal
Diagnosis of Genetic Disease: M. 7. Rebello, G. Hackett, J. Smith,
F. E. Loeffler, S. Robson, N. MacLachlan, R. W. Beard, C. H. Rodeck,
R. Williamson, D. V. ColemanandC. Williams .
The Impact of Supportive Intervention After Second Trimester
Termination of Pregnancy for Fetal scanned S. H. Elder and
K. M. Laurence .
Chorionic Villus Sampling for Fetal Karyotyping in Missed Abortions:
Z. Appleman, J. Rosensaft, U. Elchalal, B. Caspi and J.C hemke
SHORT COMMUNICATIONS
A Three-year Follow-up on a Child with Low Level Trisomy 8
Mosaicism Which was Diagnosed Prenatally: L. Camurri and A.
Chiesi
Identification of Duchenne Muscular Dystrophy Genomic Probe P20
Constant Taq! Fragment Corresponding to the EcoRV and Mspl
Polymorphisms: NV. G. Laing, A. P. Walker, P. A. Akkari, D. C.
Chandler, M. G. Layton, M. E. Mears, T. Yamada, R. J. Bartlett,
M. A. Pericak-Vance, W.-Y. Hung, M. C. seca G. van
Ommen, A. D. Roses and B. A. Kakulas .
Issue No. 2, February
Fetal Echocardiography using Transvaginal and Transabdominal
Probes During the First Period of Pregnancy: A Comparative Study:
R. D‘Amelio, C. Giorlandino, L. Masala, M. Garofalo, M. Martinelli,
G. Anelli andL . Zichella
Analysis of Acylcarnitines in Maternal Urine for Pemnstal Diegnesie of
Glutaric Aciduria Type 2: 7. Sakuma, N. an T. Ichiki,
M. Kobayashi, Y. Wada and D. Nohara : : ,
vi VOLUME CONTENTS
Prenatal Screening for Chromosome Abnormalities using Maternal
Serum Chorionic Gonadotrophin, Alpha-Fetoprotein, and Age:
J. A. Crossley, D. A. Aitken and J.M . Connor
Prenatal Diagnosis of Severe Osteogenesis Imperfecta: G. Constentine,
J. McCormack, J. McHugo and A. Fow/lie .
Congenital Myotonic Dystrophy: An Often Uneumpested Conse of
Severe Polyhydramnios: A. B. Levine, K. A. Eddleman, U. Chitkara,
J. P. Willner, R. J. Vosatka and R. L. Berkowitz .
Detection of Fetal Cells in Maternal Blood: S. C. Yeoh, /. L Sargent
C. W. G. Redman, B. P. Wordsworth and S. L. Thein.
SHORT COMMUNICATIONS
A Viewpointo f Future Prenatal Diagnosis: £. A. Reece, S. Rotmensch,
J. Whetham, M. T. Cullen andJ . C. Hobbins .
Prenatal Diagnosis of Cystic Hygroma and Chestesngiome |in the
Wolf-Hirschhorn Syndrome: A. Verloes, J. P. Schaaps, C. Herens,
D. Soyeur, J. Hustin andP . Dodinval
‘False-Negative’ and ‘False-Positive’ Prenatal Cytogenetic Results
Due to ‘True’ Mosaicism: P. Hammer, W. Holzgreve, Z. Karabacak,
J. Horst and P. Miny ‘ i ‘ ; ; ;
LETTER TO THE EDITOR
Prenatal Diagnosis of Mosaic lsochromosome 20q: J. H. Priest,
T. L. Sanders, A. L. Brown and K. M. May ; :
ANNOUNCEMENTS
Issue No. 3, March
Prenatal Diagnosis of Lissencephaly: D. H. Sa/tzman, C. M. Krauss,
J. M. Goldman and B. R. Benacerraf .
Human Chorionic Gonadotrophin and Alpha- Pernpeanein —_ in
Matched Samples of Amniotic Fluid, Extraembryonic Coelomic Fluid,
and Maternal Serum in the First Trimester of Pregnancy: NW. C.
Wathen, P. L. Cass, M. J. Kitau and T. Chard ‘
Alteration in Age- Specific Risks for Chromosomal Trisomy - nestemnel
Serum Alpha-Fetoprotein and Human Chorionic Gonadotropin
Screening: C. H. Miller, T. J. O’Brien, S. Chatelain, B. B. Butler and
J. G. Quirk. ; . 183
Further Predictors of Renal Dysplasia | in Fetal Obewustive Urapathy.
Bladder Pressure and Biochemistry of ‘Fresh’ Urine: U. Nicolini, Y.
Tannirandorn, J. Vaughan, N. M. Fisk, P. NicolaidisandC.H.Rodeck 159
Prenatal Diagnosis in Autosomal Dominant Beckwith-Wiedemann
Syndrome: D. L. Viljoen, Z. Jaquire and D. L. Woods. ‘ ; . 167
Prenatal Diagnosis for Huntington's Disease: A Molecular and Psycho-
logical Study: A. Spurdle, J. Kromberg, J. Rosendorff and T. Jenkins 177
SHORT COMMUNICATIONS
Prenatal Ultrasound Diagnosis of Apert’s Syndrome: H. Narayan and
/. V. Scott ‘ d . 187
Prenatal Diagnostic Procedure for Leukocyte Adhesion Deficiency:
R. S. Weening, R. G. M. Bredius, H. Wolf andC . E. vanderSchoot 193
Astomia-Agnathia-Holoprosencephaly Association. Prenatal Diag-
nosis of a New Case: M. Rolland, M. F. Sarramonand M.C. Bloom. 199
VOLUME CONTENTS
LETTERS TO THE EDITOR
Transabdominal Chorionic Villus Sampling by Free Hand versus by
Steering Device: B. Gustavii .
Ubiquinone Concentration in Control Chorionic Villi ‘and Fetal Liver.
C. Charpentier, B. Chadefaux, J. Aupetit and J.-P. Harpey
ERRATUM
Issue No. 4, April
Consequences of Prenatal Diagnosis of Cystic Fibrosis on the Repro-
ductive Attitudes of Parents of Affected Children: J. Boué, F. Muller,
B. Simon-Bouy, C. Faure andA . Boué
Prenatal Diagnosis of Recurrent Larsen Syndrome: Further Definition of
a Lethal Variant: D. Moste/lo, L. Hoechstetter, R.W . Bendon, P. St. J.
Dignan, A. E. Oestreich and T. A. Siddiqi
Progression of Exencephaly to Anencephaly in the Humen Fetue—An
Ultrasound Perspective: L. Wi/kins-Haug and W. Freedman
The Normal Fetus of an Acardiac Twin Pregnancy: Perinatal Manage-
ment Based on Echocardiographic and Sonographic Evaluation:
A. E. Donnenfeld, J. van de Woestijne, F. Craparo, C. S. Smith,
A. Ludomirsky and S. Weiner
Screening for Fetal Down's Syndrome with Maternal Serum Markers—
An Experience in Italy: G. Mancini, M. Perona, D. Dall’'Amico, C.
Bollati, F. Albano, R. Mazzone, M. Rosso and A. O. Carbonara .
Prenatal Diagnosis of Inborn Errors in Peroxisomal f-Oxidation: A. J. A.
Wanders, R. B. H. Schutgens, H. van den Bosch, J. M. Tager and
W. J. Kleijer
Prenatal Diagnosis in Multiple Gestation: 20 Years’ Experience with
Amniocentesis: R. L. Anderson, J. D. Goldberg and M. S. Golbus
SHORT COMMUNICATION
Pallister Killian—Mosaic Tetrasomy 12P Syndrome. Another Pre-
natally Diagnosed Case: J/. L. Bresson, F. Arbez-Gindre, J. Peltie
and A. Gouget ;
LETTERS TO THE EDITOR
Significance of very low maternal serum human chorionic gonado-
tropin in prenatal diagnosis of triploidy: G. Kohn, R. Zamir, T. Zer,
A. Amiel and M. Fejgin .
Mosaic lsochromosome 20q: M. L. Begleiter, C. LimandJ .A . Thorp
Issue No. 5, May
First- Trimester Diagnosis of an Unusual Case of a-Mannosidosis: WV. A.
Petushkova
Randomized Clinical Trial of Traneabdominal |v ersus Tranecervicel
Chorionic Villus Sampling Methods: 8. Brambati, E. Terzian and
G. Tognoni.
Cu/Zn Superoxide Diemutace Quantification rom Fetal Erythvocytee—
An Efficient Confirmatory Test for Down's Syndrome After Maternal
Serum Screening and Sonographic Investigations: 7. Porstmann,
R. Wietschke, G. Cobet, G. —— R. Bollmann, V. i aenneas
P. Pas.
Viii VOLUME CONTENTS
Prenatal Diagnosis of Infantile Hypophosphatasia: F. Kishi, S.
Matsuura, |. Murano, A. Akita and T. Kajii .
Early Amniocentesis at 11-14 Weeks’ Gestation ae the Sheets
of Fetal Chromosomal Abnormality—A Clinical Evaluation: G. A.
Hackett, J. H. Smith, M. T. Rebello, C. T. H. Gray, D. E. sees R. W.
Beard, F. E. Loeffler and D. V. Coleman
Induction of Fetal Lung Maturation with Intra- punpiattn —_— in
Multiple Pregnancy: U. Dan, G. Barkai, B. Reichman, B. Goldman and
S. Mashiach
DNA-based Prenatal Dienneaie of the Infantile rom of seeneet Ceroid
Lipofuscinosis (INCL, CLN1): /. Jarvela, J. Rapola, L. Peltonen,
L. Puhakka, J. Vesa, P. Ammaila, R. Salonen, M. aman P. oe
A. Mustonen and P. Santavuori .
SHORT COMMUNICATIONS
Pancreatic and Sacral Agenesis in Association with Maternal
Diabetes Mellitus: Case Report: P. Johnson, M. J. Seller, N.
Morrish, K. Neales and D. Maxwell.
Expression of Fragile-X in a Female Fetus Diagnosed After Chorionic
Villus Sampling: 7. Webb
Partial Trisomy 22q12-—qter in Prenatal Diagnosis: E. Tolkendort,
G. Mehner and B. Prager
Prenatal Paternity Testing by DNA Anata A. Lobbiani. A fiveen,
P. Vedrietti, B. Brambati and G. Colucci .
LETTER TO THE EDITOR
Prenatal Diagnosis of Microcephaly: J. L. To/mie
Issue No. 6, June
Prognosis of Fetuses with a Cystic Hygroma: H. S. Bernstein, R. A. Filly,
J. D. Goldberg and M. S. Golbus ,
Enhancement of Amniocyte Growth on a —o" Sulton H.- C.
Chang and O. W. Jones
Prenatal Diagnosis and Outcomes of Five — a Meesieten io an
Isochromosome of 20q: K. E. Richkind, M. J. Mahoney, M. |. Evans,
J. Willner andR . Douglass .
First-trimester Maternal Serum Unenebemend Oestriol on Alpha-
Fetoprotein in Fetal Down's Syndrome: B. F. Crandall, M. S. Golbus,
J. D. Goldberg and M. Matsumoto
Anxiety in Women with Low Maternal eee pr Perenatnin
Screening Results: D. N. Abuelo, M. R. Hopmann, G. Barsel-Bowers
and A. Goldstein
First-trimester Prenatal Biesunie of ee Experience
with 16 Cases: D. J. H. Brock andL . Barron
Screening for Down's Syndrome in Older Women —_ on a
Serum Alpha-Fetoprotein Levels and Age: Preliminary Results:
M. Zeitune, T. Ben-Tovim, M. Fejgin, A. Amiel and Y. Beyth
SHORT COMMUNICATIONS
Mosaic Trisomy 17 in Amniotic Fluid Cells Not Confirmed in the
Newborn: M. Djalali, G. Barbi and D. Grab
VOLUME CONTENTS
Is Placental Mosaicism Associated with Poor Perinatal Outcome?
N. J. Leschot and H. Wolf
B-Glucuronidase Deficiency as a Cause of Prenatally Diagnosed
Non-Immune Hydrops Fetalis: W. Lissens, G. Dedobbeleer, W.
Foulon, L. De Catte, K. Charels, A.G oossens and |. Liebaers .
Interstitial Deletions without Phenotypic Effect: Prenatal Diagnosis
of a New Family and Brief Review: J. C. K. Barber, H. Mahi, J.
Portch and M. D’A. Crawfurd.
LETTER TO THE EDITOR
Prenatal Diagnosis of Euchromatic 16p+ Heteromorphisms in Two
Unrelated Families: M. H. Bogart, C. Bradshaw and O. W. Jones .
Issue No. 7, July
The Efficacy of Maternal Age Screening for Down's ated in
Wessex: S. Youings, N. Gregson and P. Jacobs . ;
Isoelectric Focusing Pattern of Human Amniotic Fluid a- Fetoprotein:
K. Wiechen, H. Plendl and W. Grote .
A Normal 46,XX Infant with a 46,XX/69,XXY Pomente: a Major Contri-
bution to the Placenta is From a Resorbed Twin: D. F. Callen,
H. Fernandez, Y. J. Hull, J. M. — H. M. Chambers and G. R.
Sutherland.
First- Trimester — oaen Alpha- a oo “Chorionic
Gonadotropin in Aneuploid Pregnancies: A. Johnson, F. S.
Cowchock, M. Darby, R. Wapner and L. G. Jackson .
Prenatal Diagnosis of Harlequin Ichthyosis by Fetal Skin ae Report
of Two Cases: K. Suzumori and T. Kanzaki. ;
Early Transvaginal Sonographic Diagnosis of Alobar siding
cephaly: M. Bronshtein and Z. Wiener
Maternal Serum Human Chorionic Qunetete — in Twin
Pregnancies: L. M. Nebiolo, W. B. Adams, S. L. Miller and A.
Milunsky ; ; : ‘ ; ;
SHORT COMMUNICATIONS
Prenatal Diagnosis for Dystrophia Myotonica Using the Polymerase
Chain Reaction: C. Clark, K. F. Kelly, N. Smith, N. Fairweather,
T. Brown, A. Johnston and N. E. Haites .
Post-Mortem Findings in a Fetus with 48,XXY, 421: A. “Smith, G.
Watson, J. Michas, R. Viersbach and D. Ellwood .
Pallister—Killian Syndrome Diagnosed by Chorionic Villus Sampling
M. Sharland, L. Hill, R. Patel and M. Patton
Duplication of Chromosome 11 Centromere in Fetal and penta
Karyotypes: a New Variant?: M. Till, A. Rafat, C. Charrin, H. Plauchu
and D. Germain
Prenatal Diagnosis of Duplication Cyst of On Patan G. L. perem
D. Blitz, P. Gibson, L. Seabolt, M. Olszewski, D. J. Wright and
D. B. Schwartz ; ; ; ; ‘
LETTER TO THE EDITOR
A Second Report of Normal Outcome with Mosaic |lsochromosome
20q Found on Amniocentesis: M. A. Kershner and A. E. Donnenfeld
VOLUME CONTENTS
Issue No. 8, August
Prague Special Issue
From the 5th International Congress
of Early Fetal Diagnosis, July 1990
Editorial: Early Prenatal Diagnosis: M. A. Ferguson-Smith
Preimplantation Diagnosis: A Patient Perspective: F. Pergament .
Chromosome Analysis of Multipronuclear Human Oocytes After /n
Vitro Fertilization: B. Martin-Pont, J. Selva, M. Bergere, C. Fillion,
J. N. Hugues, A. Tamboise andE . Tamboise
B-Glucuronidase Activity in Mouse Oocytes, Mouse Preimplantation
Embryos, and Human Gametes: M. Van Blerk, W. Lissens, M. Nijs, M.
Van Der Linden, A. C. Van Steirteghem and| . Liebaers
Superovulation Fails to Increase Human Blastocyst Yield After Uterine
Lavage: S. A. Carson, A. L. Smith, J. L. Scoggan and J. E. Buster
Possible Effect of Gestational Age on the Detection of Fetal Nucleated
Erythrocytes in Maternal Blood: D. W. Bianchi, J. E. Stewart, M. F.
Garber, G. Lucotte and A. F. Flint
Comparison of Transabdominal and Transcervical cvs and Amniocen-
tesis: Sampling Success and Risk: S. Smidt-Jensen and J. Philip
Chorionic Villus Sampling: Analysis of Fetal Losses to Delivery, Placen-
tal Pathology, and Cervical Microbiology: R. D. Wilson, K. Cho, B.
McGillivray, D. Kalousek, D.S haw and V. Baldwin
Risk of Miscarriage after Transcervical and Transabdominal cvs in
Relation to Bacterial Colonization of the Cervix: P. Baumann, V.
Jovanovic, G. Gellert and R. Rauskolb
Transcervical (TC) and Transabdominal (TA) CVS for Prenatal Diag-
nosis in Rotterdam: Experience with 3611 Cases: M. G. J. Jahoda,
H. Brandenburg, A. Reuss, T. E. Cohen- Overbeek, J. W. Wiadimiroff,
F. J. Los andE . S. Sachs
Trisomy 18 in Chorionic Villus Sampling: Problems and Consequences:
A. Wirtz, K.-Ph. Gloning and J.M urken :
Uncommon Chromosomal Mosaicism in Chorionic Villi: l Kennerk-
necht, G. Barbi, M. Djalali, W. Just, W. Vogel and R. Terinde
Follow-up and Pregnancy Outcome after a Diagnosis of Mosaicism
in CVS: A. S. P. M. Breed, A. Mantingh, R. Vosters, J. R. Beekhuis,
J. M. M. Van Lith and G. J. P. A. Anders
Mosaicism and Accuracy of Prenatal Cytogenetic Diagnoses after
Chorionic Villus Sampling and Placental Biopsies: P. Miny, P.Ham-
mer, B. Gerlach, S. Tercanli, J. Horst, W. Holzgreve and B. Eiben
Proliferation Kinetics in Native Chorionic Villus Cells: /. Kennerknecht,
S. Baur-Aubele and W. Vogel
Chorionic Villus cDNA Library Displays Expression of Butyryicholines-
terase: Putative Genetic Disposition for Ecological Danger: H. Zakut,
J. Lieman-Hurwitz, R. Zamir, L. Sindell, D. Ginzberg and H. Soreq
Early Prenatal Diagnosis of the Fragile Site at Xq27.3 Associated with
Martin-Bell Syndrome: NV. Tommerup, F. Sandergaard, A. Hanauer, /.
Oberle, J. Bang, B. Barbi, B. Bech, K. Davies, U. Froster-/skenius,
K.-H. Gustavson, C. B. Van Der Hagen, A. Heiberg, U. Kristoffersen,
M. Mikkelsen, P. Miny, K. B. Nielsen, K. Rasmussen, A. Schinzel, L.
Tranebjaerg, T. Tonnesen and J. Wahilstrom ;