Prenatal Diagnosis 2004: Vol 24 Table of Contents

2004·3.2 MB·English

PRENATAL DIAGNOSIS
(Prenat Diagn)
Contents
VOLUME 24, ISSUE Nos. 1-13
ISSUE NUMBER 1, JANUARY 2004
Fetal Cytogenetics
Short Communications
Prenatal diagnosis of premature centromere division-related mosaic atencapaies aneuploidy: C.-R Chen,
C.-C. Lee, W.-L. Chen, W. Wang and C.-Y. Tzen .
Clinical, cytogenic and molecular findings of prenatally diagnosed mosaic trisomy 4: C. -P. Chen, S. R. Chern,
C.-C. Lee, T.-Y¥. Chang, W. Wang and C.-Y. Tzen. ;
Fetal Biochemistry
Interleukin-8 mRNA in vaginal secretions: a prenatal marker of congenital infection in case of preterm labor
with intact membranes: G. Kayem, F. Maillard, F. Batteux, B. Weill, D. Cabrol and F. Goffinet .
Fetal Imaging
The prenatal diagnosis of cloacal dysgenesis sequence in six cases: can the termination of pregnancy always
be the first choice?: Z. Sahinoglu, B. Mulayim, S. Ozden, S. Etker, A. Celayir, F Ozkan and R. Bilgic.
Follow-up of children with isolated fetal echogenic bowel with particular reference to bowel- related
symptoms: Y. Patel, PR A. Boyd, RPC hamberlain and K. Lakhoo.
Short Communications
Middle cerebral artery Doppler velocimetric assessment in two cases of hydrops fetalis without fetal
anaemia: N. K. Shah, W. L. Martin, and M. J. Whittle .
Prenatal sonographic diagnosis of congenital hiatal hernia: R. Ruano, A. Benachi, 'M.-C . Aubry, a P. Bernard,
F. Hameury, C. Nihoul-Fekete and Y. Dumez .
Second-trimester diagnosis of intracranial vascular ‘anomalies in a fetus with subdural ‘hemorrhage:
F. A. L. Strigini, V. Nardini, A.C armignani and A. M. Valleriani . ;
Radiographic and genetic diagnosis of sporadic hypochondroplasia early in the neonatal period: s. Kataoka,
H. Sawai, H. Yamada, N. Kanazawa, K. Koyama, G. Nishimura, M. Morikawa, N. Sakuragi and H. Minakami
Prenatal diagnosis of mosaic distal 5p deletion and review of the literature: C.-R Chen, C.-C. Lee,
T.-Y¥. Chang, D.-D. Town and W. Wang .
Prenatal diagnosis of mosaic trisomy 16 associated with. congenital diaphragmatic hernia and elevated
maternal serum alpha-fetoprotein and human chorionic gonadotrophin: C.-P Chen, J.-C. Shih, S.-R. Chern,
C.-C. Lee and W. Wang . ; ; : ‘ ‘ ; ‘ : * ;
New Technology
Multi-channel magnetocardiography for detecting beat morphology variations in fetal arrhythmias:
R. Sturm, H.-P. Muller, A. Pasquarelli, A.D emelis, S. N. Erné, R. Terinde and D. Lang .
Letters.
Current Awareness in Prenatal Diagnosis .
ISSUE NUMBER 2, FEBRUARY 2004
Fetal Cytogenetics
Short Communications
Structural chromosomal mosaicism and prenatal diagnosis: E. Pipiras, C. Dupont, S. Chantot-Bastaraud,
J. P. Siffroi, M. Bucourt, A. Batallan, C. Largilliére, M. Uzan, J. P-W olf andB . Benzacken.
Retrospective diagnosis and subsequent prenatal diagnosis of Nijmegen breakage syndrome: P. Muschke,
H. Gola, R. Varon, A. Répke, W. Zumkeller, RPW ieacker and M. Stumm.
Prenatal diagnosis of mos46,X,del(Y)(q11.2)/45,X by cytogenetic and molecular studies with multiplex STR
analysis: H.-L. Hwa, T.-M. Ko, Y.-Y. Chang, C.-H. Huang, Y.-N. Su, L.-H. Tseng and F.-J. Hsieh
Trisomy 13 mosaicism: study of serial cytogenetic changes in a case from — pregnancy to infancy:
M. Chen, G.-P: Yeh, J.-C. Shih and B.-T. Wang . , ; ;
Fetal Biochernistry
Invited Commentary: Current Issues in Obstetrics and Genetics
The prenatal diagnosis of congenital disorders of glycosylation (CDG): G. Matthijs, E. Schollen and
E. Van Schaitingen : ; ‘ ‘ ; P . ; ; . ; / , ; ' ‘
VOLUME CONTENTS
Fetal Cells/DNA in the Maternal Circulation
Fetal DNA in maternal plasma as a screening variable for preeclampsia. A preliminary nonparametric
analysis of detection rate in low-risk nonsymptomatic patients: A. Farina, A. Sekizawa, Y. Sugito,
M. Iwasaki, M. Jimbo, H. Saito and T. Okai .
Short Communication
ROC analysis of an erythroblast morphologic scoring system to improve identification of fetal cells in
maternal blood: D.-H. Cha, A. Farina, D. W. Bianchi and K. L. Johnson.
Fetal Imaging
Pilot study on the mid-second trimester examination of fetal nasal bone in the Chinese population: M. Chen,
C. P. Lee, K. ¥. Leung, P. W. Hui and M. H. Y. Tang
Ultrasound screening of fetal structural abnormalities at 12 to 14 weeks in Hong Kong: M Chen, y H. Lam,
C. P Lee and M. H. Y. Tang
Reversal of twin-twin transfusion syndrome: frequency, vascular anatomy, associated anomalies and
outcome: L. ¥. Wee, M. J. O. Taylor, T. Vanderheyden, R. Wimalasundera, H. M. Gardiner and N. M. Fisk.
invited Commentary: Current Issues in Obstetrics and Genetics
Megacystis in the first trimester: W. Sepulveda
Short Communications
Prenatal diagnosis of enteric duplication cyst of the tongue: T. Rousseau, S. Couvreur, E. Senet-Lacombe,
C. Durand, E. Justrabo, G. Malka and P. Sagot .
Prenatal diagnosis of the distal 11q deletion and review of the literature: C. P Chen, s.- R. Chern, T.- Y Chang,
C.-Y. Tzen, C.-C. Lee, W.-L. Chen, L.-F. Chen and W. Wang.
Maternal Screening
Integrated first- and second-trimester Down syndrome screening test among unaffected IVF pregnancies:
R. Maymon and A. Shulman
Psychosocial Aspects
Maternal education modifies the age-related increase in the birth prevalence of Down syndrome:
B. Khoshnood, S. Wall, P. Pryde and K.-S. Lee
Letters to the Editor
Current Awareness in Prenatal Diagnosis .
ISSUE NUMBER 3, MARCH 2004
Fetal Cytogenetics
Prenatal diagnosis and management of sex chromosome aneuploidy: a report on 98 cases: J.-L. Brun,
F. Gangbo, Z. Q. Wen, K. Galant, L. Taine, B. oe Laulom, D. Roux, R. —— J. Horovitz and
R. Saura ' ; , ; ; ; f ‘
Short Communications
Del(18p) syndrome with increased nuchal translucency in prenatal diagnosis: E.-H. Cho, J.-M. Kim,
M.-H. Lee, Y.-M. Kim, S.-Y. Park and H.-M. Ryu
Introduction of the QF-PCR analysis for the purposes of prenatal diagnosis in ‘Bulgaria —- estimation of
applicability of 6 STR markers on chromosomes 21 and 18: S. Andonova, R. Vazharova, V. Dimitrova,
V. Mazneikova, D. Toncheva and I. Kremensky.
Prenatal diagnosis of 47,XX,der(15)t(15;16)(q13;p13.2): J. Santolaya-Forgas, J. De Leon, C. Powell and
V. Tonk
Two unusual chromosome aberrations ascertained by sonographic anomalies: S. ‘Bourthoumieu, F Esclaire,
F. Terro, M. Fiorenza, J.-L. Eyraud, M. Servaud, M. Cantaloube, V. Fermeaux and C. Yardin.
Fetal Biochemistry
Short Communication
Sonographic findings in Beckwith-Wiedemann syndrome related to H19 hypermethylation: C. Le Caignec,
C. Gicquel, M. C. Gubler, C. Guyot, M. C. You, A. Laurent, M. Joubert, N. Winer, A. David and
J. M. Rival
Fetal Celis/DNA in the Maternal Circulation
Culture of endothelial cells isolated from maternal blood using anti-CD105 and CD133: H. A. E. Gussin,
A. K. Sharma and S. Elias. , ; , : ; :
Fetal Imaging
The three-vessel and tracheal view of the fetal heart: an in utero sonographic evaluation: Y. Zalel, Y. Wiener,
R. Gamzu, A. Herman, E. Schiff and R. Achiron.
The thick heterogenous (jellylike) placenta: a strong predictor of adverse pregnancy outcome: 3 Raio,
F. Ghezzi, A. Cromi, M. Nelle, PR. Diirig and H. Schneider. ; ;
Short Communication
Prenatal diagnosis of congenital Chagas’ disease (American trypanosomiasis): M. Okumura,
V. A. dos Santos, M. E. Camargo, R. Schultz and M. Zugaib .
VOLUME CONTENTS
Maternal Screening
The impact of correcting for smoking status when screening for chromosomal anomalies using maternal
serum biochemistry and fetal nuchal translucency in the first trimester of pregnancy: K. Spencer, R. Bindra,
A. M. Cacho and K. H. Nicolaides .
Sialic acid-deficient invasive trophoblast antigen (sd- ITA): a new | urinary, variant for gestational Down
syndrome screening: J. M. Sutton and L. A. Cole.
Maternal serum and amniotic fluid levels of macrophage inhibitory cytokine 1 in ‘Down syndrome and
chromosomally normal pregnancies: E. M. Wallace, B. Marjono, D. A. Brown, J. Crossley, S. Tong,
D. Aitken and S. Breit.
Fetal Surgery
Short Communication
Favourable outcome of a tight constriction band secondary to amniotic band syndrome: L. Sentilhes,
E. Verspyck, D. Eurin, V. lckowicz, S. Patrier, J. Lechevallier and L. Marpeau .
Letters to the Editor
Current Awareness in Prenatal Diagnosis .
ISSUE NUMBER 4, APRIL 2004
Fetal Cytogenetics
Chorionic villus sampling (CVS) and fluorescence in situ hybridization (FISH) for a rapid first-trimester
prenatal diagnosis: C. Goumy, M.-N. Bonnet-Dupeyron, Y. Cherasse, H. Laurichesse, J.-Y. Jaffray,
G. Lacroute, A. Geneix, D. Lemery and P. Vago . ; , ; . P ‘ : :
The prenatal presentation of congenital erythropoietic porphyria: report of two siblings with elevated
maternal serum alpha-fetoprotein: N. Lazebnik and R. S. Lazebnik.
Short Communication
Prenatal diagnosis of an extra der(4) resulting from a complex maternal chromosome translocation:
M. V. Migliori, A. Pettinari, A.M . Ciaschini, PR Piermattei, F. Pigliapoco and G. Discepoli .
Fetal Cells/DNA in the Maternal Circulation
Cell-free fetal DNA (SRY locus) concentration in maternal plasma is directly correlated to the time elapsed
from the onset of preeclampsia to the collection of blood: A. Farina, A. Sekizawa, N. Rizzo, M. Concu,
|. Banzola, PR. Carinci, G. Simonazzi and T. Okai.
Fetal Imaging
Natural history and long-term outcome of cardiac rhabdomyomas detected emnigie V. Fesslova, L. Villa,
T. Rizzuti, M. Mastrangelo and F. Mosca.
Familial occurrence of isolated nonseptated nuchal cystic hygromata in midtrimester of pregnancy:
S. Rotmensch, C. Celentano, O. Sadan, M. Liberati. D. Lev andM . Glezerman. :
Effects of triploidy on early human development: T. Philipp, K. sserietene E. R. Separovic, K. Philipp and
D. K. Kalousek.
Fetal open spina bifida: a natural history of disease progression in utero: J. R. Biggio Jr, K. D. Wenstrom
and J. Owen . ; ; ; , ; : : ; : P ; ;
Short Communications
Hemimegalencephaly misdiagnosed as a congenital brain tumor by fetal cerebral ultrasonography:
S. Nishimaki, M. Endo, K. Seki and S. Yokota.
Molecular screening of the ZFHX1B gene in prenatally diagnosed isolated agenesis of the corpus callosum:
Y. Espinosa-Parrilla, F. Encha-Razavi, T. Attié-Bitach, J. Martinovich, N. Morichon-Delvallez, A. Munnich,
M. Vekemans, S. Lyonnet and J. Amiel.
Complete large bowel duplication with paraduodenal cyst: antenatal sonographic features: P C. Khanna,
V. Gawand, A. J. Nawale, T. Deshmukh and S. A. Merchant.
Preimplantation Genetics and Diagnosis
Pregnancy after preimplantation genetic diagnosis for Sanjad-Sakati Syndrome: A. Hellani, A. Aqueel,
K. Jaroudi, P. T. Ozand and S. Coskun. ‘ ; : : ; ; ; ‘
The results of aneuploidy screening in 276 couples undergoing assisted reproductive techniques:
S. Kahraman, M. Benkhalifa, E. Donmez, A. Biricik, S. Sertyel, N. Findikli and H. Berkil .
Psychosocial Aspects
Applying decision analysis to facilitate informed decision making about prenatal diagnosis for Down
syndrome: a randomised controlled trial: H. L. Bekker, J. Hewison and J. G. Thornton.
Letters to the Editor
Current Awareness in Prenatal Diagnosis .
VOLUME CONTENTS
ISSUE NUMBER 5, MAY 2004
Fetal Cytogenetics
Short Communication
Prenatal overgrowth and mosaic trisomy 15q25-qter including the IGF1 receptor gene: L. Faivre,
T. Rousseau, N. Laurent, P Gosset, D. Sanlaville, C. Thauvin-Robinet, V. Cusin, S. Lionnais, P. Callier,
P. Khau Van Kien, F. Huet, C. Turleau, PR Sagot and F. Mugneret.
Fetal Molecular Biochemistry
Identification of two mutations for ataxia telangiectasia among the Druze community: F. Fares, S. A. Ran,
M. David, N. Zelinik, Y. Hecht, H. Khairaldeen and A. Lerner.
Genetic approach to prenatal diagnosis in urea cycle defects: J. Haberle and H. G. Koch . '
A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia
pigmenti: J. Steffann, V. Raclin, A. Smahi, H. Woffendin, A. Munnich, S. J. Kenwrick, A.-G. Grebille,
A. Benachi, Y. Dumez, J.-P. Bonnefont and S. Hadj-Rabia .
Short Communications
Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation
detection: J. E. Nielsen, P- Koefoed, S. Kjaergaard, L. N. Jensen, A. Norremolile andL . Hasholt . :
Prenatal diagnosis of a fetus harboring an intermediate load of the A3243G mtDNA mutation in a maternal
carrier diagnosed with MELAS syndrome: Y.-J. Chou, C.-Y. Ou, T.-¥. Hsu, C.-W. Liou, C.-F. Lee, D.-J. Tso and
Y.-H. Wei. : ;
Fetal Imaging
Fetal serum {2-microglobulin and cystatin C in the prediction of post-natal renal function in bilateral
hypoplasia and hyperechogenic enlarged kidneys: F Muller, S. Dreux, F. Audibert, J.-J. Chabaud,
T. Rousseau, D. D’Hervé, Y. Dumez, S. Ngo, M.-C. Gubler and M. Dommergues .
Assessment of cortical gyrus and sulcus formation using magnetic resonance images | in small- for-
gestational-age fetuses: S. Abe, K. Takagi, T. Yamamoto and T. Kato .
A comparative study of prenatal ultrasound findings and post-mortem examination ina tertiary referral
centre: N. Johns, W. Al-Salti, P Cox and M. D. Kilby.
Semiquantitative assessment of myelination using magnetic resonance imaging in normal fetal brains:
S. Abe, K. Takagi, T. Yamamoto, Y. Okuhata and T. Kato .
Short Communications
Prenatal diagnosis of an isochromosome 5p in a fetus with increased nuchal translucency thickness and
pulmonary atresia with hypoplastic right heart at 14 weeks: J. Paulick, C. Tennstedt, M. Schwabe,
H. Korner, C. Bommer and R. Chaoui .
Another case of autosomal dominant exstrophy of the bladder: U. G. Froster, W. Heinritz, J. Bennek,
L. C. Horn and R. Faber . ; ; ; ;
Maternal screening
A comparison of the impact of screen-positive results obtained from ultrasound and biochemical screening
for Down syndrome in the first trimester: a pilot study: M. J. N. Weinans, L. Kooij, M. A. Miller,
K. M. Bilardo, J. M. M. van Lith and T. Tymstra .
Prenatal screening for Down syndrome: the problem of recurrent false- positives: N. J. ‘Wald, Ww. J. Huttly and
A. R. Rudnicka . ; 7 ; ;
Letters to the Editor.
Current Awareness in Prenatal Diagnosis.
ISSUE NUMBER 6, JUNE 2004
Fetal Cytogenetics
Invited Commentary: Current Issues in Obstetrics and Genetics
Prenatal diagnosis for alpha1-antitrypsin deficiency: D. W. Cox .
Original Paper
QF-PCR-based prenatal detection of aneuploidy in a southeast Asian population: R. Quaife, L. F Wong,
S. Y. Tan, W. Y. Chua, S. S. Lim, C. J. N. Hammersley, H. L. Lee and H. L. Yeo.
Short Communications
Prenatal diagnosis of de novo trisomy 1(q21-qter)der(Y)t(Y;1) in a malformed live born: M. C. Fernandez-
Novoa, M. T. Vargas, M. R. Granell andP . Carreto.
Prenatal diagnosis of interstitially satellited 6p: C.-P Chen, S. -R. ‘Chern, C.- C. Lee, Ww- L. Chen and Ww. Wang .
Fetal Molecular Biochemistry
Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI
immunocytochemistry: M. Brockington, S. C. Brown, A. Lampe, Y. Yuva, L. Feng, C. Jimenez-Mallebrera,
C. A. Sewry, K. M. Flanigan, K. Bushby and F. Muntoni .
VOLUME CONTENTS
Fetal Imaging
Agenesis of the ductus venosus associated with direct umbilical venous return into the heart — case series
and review of literature: A. Sau, G. Sharland andJ . Simpson
Prenatally diagnosed giant omphaloceles: short- and long-term outcomes: J.- M. Biard, R. D. Wilson,
M. P. Johnson, H. L. Hedrick, U. Schwarz, A. W. Flake, T. M. Crombleholme and N. S. Adzick. ,
Adverse outcome of isolated fetal intra-abdominal umbilical vein varix despite close monitoring:
D. V. Valsky, D. Rosenak, D. Hochner-Celnikier, S. Porat and S. Yagel.
Short Communications
Second-trimester diagnosis of complete trisomy 9 associated with abnormal maternal serum screen results,
open sacral spina bifida and congenital diaphragmatic hernia, and review of the literature: C.-P Chen,
S.-R. Chern, S.-J. Cheng, T.-Y. Chang, L.-F. Yeh, C.-C. Lee, C.-W. Pan, W. Wang and C.-Y. Tzen
Prenatal diagnosis of slow-rate ventricular tachycardia using fetal electrocardiography: Y. Yumoto, S. Satoh,
T. Koga, H. Nagata, R. Nagamatsu and H. Nakano .
Maternal Screening
First-trimester nuchal translucency and maternal serum free B-hCG and PAPP-A can detect triploidy and
determine the parental origin: Y. Yaron, Y¥. Ochshorn, S. Tsabari and A. Bar Shira .
Maternal serum levels of placental proteins after in vitro fertilisation and their implications for prenatal
screening: WN. A. on D. Wunder, F. Vanderlick, A. Chanson, G. Pescia, P- Janecek, E. Boillat and
M. H. Birkhauser , : : : , ; ; : : j ; 4 : ;
Psychosocial Aspects
How do women of diverse backgrounds value prenatal testing outcomes?: M. Kuppermann, R. F. Nease, Jr.,
E. Gates, L. A. Learman, B. Blumberg, V. Gildengorin and A. E. Washington .
Letters to the Editor
Current Awareness in Prenatal Diagnosis .
ISSUE NUMBER 7, JULY 2004
Fetal Cytogenetics
Issues arising from the prenatal diagnosis of some rare trisomy mosaics — the importance of cryptic fetal
mosaicism: A. Daniel, Z. Wu, A. Darmanian, P. Malafiej, V. Tembe, G. Peters, C. Kennedy and L. Adés
Fetal Imaging
Congenital diaphragmatic hernia: prenatal diagnosis permits immediate intensive care with high survival
rate in isolated cases. A population-based study: P Bétrémieux, T. Gaillot, A. de la Pintiere, A. Beuchée,
L. Pasquier, E. Habonimana, G. Le Bouar, B. aaah J. Milon, B. Frémond, E. Wodey, S. Odent, P. Poulain
and P. Pladys. . , ‘
Positive maternal serum triple test screening in severe early onset hypophosphatasia: |. Witters,
P. Moerman, E. Mornet and J.-P. Fryns
Unusual prenatal presentation of Beckwith- Wiedemann syndrome: V. Mulik, D. Wellesley, R. Sawdy and
D. T. Howe
Prenatal rupture of a left ventricular diverticulum: a case report and review of the literature: A. Bernasconi,
A. L. Delezoide, F. Menez, E. Vuillard, J.-F. Oury and A. Azancot
Short Communications
The role of integrated imaging techniques for prenatal prediction of phenotype in two cases of facial
anomalies: M. A. Rustico, F. Lalatta, A. Righini, L. Spaccini, |. Fabietti and U. Nicolin .
Campomelic acampomelic dysplasia presenting with increased nuchal translucency in the first trimester:
L. Michel-Calemard, G. Lesca, Y. Morel, D. Boggio, H. Plauchu and J. Attia-Sobol . ,
Prenatally diagnosed portocaval shunt and postnatal outcome: a case report: N. Manning, L. Impey,
D. Linsdell and K. Lakhoo . ; ; ; ; ;
Maternal Screening
First-trimester screening for trisomy 21 combining biochemistry and ultrasound at individually optimal
gestational ages. An interventional study: A. Borrell, E. Casals, A. Fortuny, M. T. Farre, A. Gonce,
A. Sanchez, A. Soler, V. Cararach and J. A. Vanrell
Fetal Infections
Fetal morbidity and mortality after acute human parvovirus B19 infection in pregnancy: prospective
evaluation of 1018 cases: M. Enders, A. Weidner, |. Zoellner, K. Searle and G. Enders
Short Communication
Alphafetoprotein and acetylcholinesterase in amniotic fluid as a factor suggesting fetal skin and nerve
lesions in a case of congenital varicella syndrome: V. Mirlesse, N. — E. Cynober, J. Francois and
F. Daffos ; : -% ; 4 ; a
VOLUME CONTENTS
Psychosocial Aspects
Attitudes towards termination of pregnancy among Hong Kong Chinese women attending prenatal
diagnosis counselling clinic: T. N. Leung, M. M. C. Chau, J. J. Chang, T. Y. Leung, T. ¥. Fung and T. K. Lau
Preimplantation Genetics and Diagnosis
Editorial Comments
Preimplantation genetic diagnosis for reciprocal translocations: J. D. A. Delhanty '
Preimplantation genetic diagnosis for reciprocal translocations: C. M. Ogilvie and P. N. ‘Scriven :
Efficacy and clinical outcome of preimplantation genetic diagnosis using FISH for couples of reciprocal and
Robertsonian translocations: the Korean experience: C. K. Lim, J. H. Jun, D. M. Min, H. Lee, J. Y¥. Kim,
M. K. Koong and |. S. Kang
Duplex, triplex and quadruplex PCR for the pre- implantation genetic diagnosis (PGD) of cystic fibrosis (CF),
an exhaustive approach: C. Moutou, N. Gardes and S. Viville .
Current Controversy
The artificial uterus: M. Adinolfi.
Letters to the Editor
Current Awareness in Prenatal Diagnosis .
ISSUE NUMBER 8, AUGUST 2004
Fetal Cytogenetics
Duplication of 9 p11.2-p13.1: a benign cytogenetic variant: M. C. Di Giacomo, C. Cesarano, N. Bukvic,
E. Manisali, G. Guanti and F. Susca : ; : , F ;
Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (( UPD) risk: an Italian
multicentric prenatal survey: A. Sensi, S. Cavani, N. Villa, M. G. Pomponi, A. Fogli, F. Gualandi, M. Grasso,
E. Sala, R. Pietrobono, F. Baldinotti, E. Savin, A. Ferlini, M. Cecconi, S. Rossi, S. Gallone, C. Bellini, G. Neri,
E. Martinoli, P. Simi, L. Dalpra, M. Genuardi, F. Dagna-Bricarelli and E. Calzolari.
Short Communications
Prenatal diagnosis of tetrasomy 9p with Dandy-Walker malformation: M. Hengstschlager, D. Bettelheim,
R. Drahonsky, C. Repa, J. Deutinger and G. Bernaschek
A case of ring chromosome 22 with deletion of the 22q13.3 region associated with agenesis «o f the corpus
callosum, fornix and septum pellucidum: J. Delcan, M. Orera, R. Linares, D. Saavedra and A. Palomar .
Fetal Molecular Biology
First-trimester prenatal screening for the common 35delG GJB2 mutation causing prelingual deafness:
D. A. Coviello, B. Brambati, L. Tului, A. Percesepe, F. Sironi, A. Sahai, R. Bertorelli and A. Forabosco .
Fetal Molecular Genetics
Short Communication
Prenatal diagnosis of Pfeiffer syndrome type Ii: B. Blaumeiser, PRL oquet, W. Wuyts and M. M. Néthen
Fetal Imaging
The impact of fetal renal pelvic diameter on postinatal outcome: U. John, C. Kahler, S. Schulz, H. J. Mentzel,
S. Vogt and J. Misselwitz
Congenital malformations of the diaphragm: findings of the West Midlands Congenital Anomaly Register
1995-2000: A. Tonks, M. Wyldes, D. A. Somerset, K. Dent, A. nenres I—. A. Lander, E. Roberts
and M. D. Kilby , : . ‘
Short Communications
First-trimester diagnosis of hydrolethalus syndrome in a Chinese family: B. C. P Chan, T. W. H. Shek and
C.P Lee.
Sonography in prenatal diagnosis of congenital adrenal hyperplasia: J. Saada, A. -G. ‘Grebille, M. £. Aubry,
A. Rafii, ¥. Dumez and A. Benachi
Pathology of the Fetus and Placenta
Investigation of lysosomal storage diseases in nonimmune hydrops fetalis: M. G. Burin, A. P Scholz, R. Gus,
M. T. V. Sanseverino, A. Fritish, J. A. a F. Timm, P. Barrios, M. a J. C. Coelho and
R. Giugliani : - : . : : ;,
Preimplantation Genetics and Diagnosis
Increased rate of aneuploid embryos in young women with previous aneuploid conceptions: S. Munné,
M. Sandalinas, C. Magli, L. Gianaroli, J. Cohen and D. Warburton
VOLUME CONTENTS
Maternal Screening
The relationships between maternal serum alpha-fetoprotein and maternal haemoglobin: J. L. Bartha,
K. M. Omar and P. W. Soothill .
Randomised trial comparing an interactive multimedia decision aid with a leaflet about prenatal screening
for Down syndrome: K. Y. Leung, C. P. Lee, H. Y. Chan, M. H. Y. Tang, Y. H. Lam and A. Lee.
Fetal Invasive Procedures
Safety of fetal blood sampling by cordocentesis in fetuses with single umbilical arteries: S. A. Abdel-Fattah,
J. L. Bartha, P M. Kyle, M. L. Denbow and P. W. Soothill .
Letters to the Editor
Current Awareness in Prenatal Diagnosis .
ISSUE NUMBER 9, SEPTEMBER 2004
Fetal Cytogenetics
Short Communications
Prenatal diagnosis of trisomy 3 mosaicism: A.-L. Zaslav, G. Pierno, J. Davis, A. Fougner, J. Jacob, R. Kazi,
D. Blumenthal, S. Sturim, M. Shaham and J. Fox
Double-outlet right ventricle with absent left ventricle and mitral atresia ina fetus with a deletion 22q1 2:
A. L’'Herminé-Coulomb, L. Houyel, A. Aboura, F. Audibert, D. Dal Soglio and G. Tachdjian. ‘
Prenatal diagnosis and characterization of an analphoid marker chromosome 16: A. C. Tabet, P. Gosset,
H. Elghezal, S. Fontaine, J. Martinovic, F. Encha Razavi, S. Romana, M. Vekemans and N. Morichon-
Delvallez. : ; ‘ : : ; ; :
Fetal Molecular Biology
Short Communications
Prenatal molecular diagnosis in hypertrophic cardiomyopathy: report of the first case: P Charron, D. Héron,
M. Gargiulo, J. Feingold, J.-F. Oury, P Richard and M. Komajda
Fetal Molecular Genetics
Short Communications
Germline mosaicism complicates molecular diagnosis of Lesch-Nyhan syndrome: /. Willers.
Fetal Cells in Maternal Circulation
B-globin DNA in maternal plasma as a molecular marker of pre-eclampsia: A. Sekizawa, A. Farina, K. Koide,
M. Iwasaki, S. Honma, K. Ichizuka, H. Saito and T. Okai. ; é
Total cell-free DNA (f-globin gene) distribution in maternal plasma at the ‘second trimester: a new
prospective for pre-eclampsia screening: A. Farina, A. Sekizawa, M. lwasaki, R. Matsuoka, K. Ichizuka and
T. Okai .
Fetal cells in maternal plasma are found in a late ‘state of apoptosis: A. Kolialexi, G. Th. Tsangaris,
A. Antsaklis and A. Mavrou ‘ ‘ ;
Fetal Imaging
Sonographic biometrical range of external genitalia differentiation in the first trimester of pregnancy:
analysis of 2593 cases: V. Mazza, |. Di Monte, M. Pati, G.C ontu, C. Ottolenghi, A. Forabosco and A. Volpe
Obstetricians’ agreement on fetal prognosis after ultrasound diagnosis of fetal anomalies: H. H. Bijma,
H. |. J. Wildschut, A. Van der Heide, P. J. Van der Maas and J. W. Wladimirof.
Invited Commentary: Current Issues in Obstetrics and Genetics
The ductus venosus in early pregnancy and congenital anomalies: A. Borrell .
Fetal Infections
Focal sonographic periventricular pattern associated with mild ventriculomegaly in fetal cytomegalic
infection revealing cytomegalic encephalitis in the third trimester of pregnancy: L. Guibard, J. Attia-Sobol,
A. Buenerd, P. Foray, C. Jacquet, F Champion, P. Arnould, J.-P. Pracros and F. Golfier .
Preimplantation Genetics and Diagnosis
PGD analysis for aneuploidy in a patient heterozygous for a polymorphism of chromosome 16 (16qh-):
P. Collis, M. Sandalinas, K. Pagidas and S. Munné
Maternal Screening
Oral mucosa spectrophotometric changes in healthy parents of patients with Down syndrome: G. Latini,
C. De Felice, S. Parrini, G. Chitano and A. Verrotti :
VOLUME CONTENTS
Technological Developments
Assessment of fetal lung development by quantitative ultrasonic tissue characterization: a methodical study:
|. Tekesin, G. Anderer, L. Hellmeyer, W. Stein, M. Kihnert andS . Schmidt.
Quantitative real-time PCR technique for rapid prenatal diagnosis of Down syndrome: ¥. Hu, M. Zheng,
Z. Xu, X. Wang and H. Cui , ;
Letters to the Editor
Current Awareness in Prenatal Diagnosis .
ISSUE NUMBER 10, OCTOBER 2004
Maternal Screening
Editorial
Which prenatal screening protocol?: M. A. Ferguson-Smith R . , ;
Contingent screening for Down syndrome is an efficient alternative to non- dieceowe se eusitie screening:
D. E. Wright, |. Bradbury, PR Benn, H. Cuckle and K. Ritchie .
First-trimester combined ultrasound and biochemical screening for Down syndrome in routine clinical
practice: E. J. Stenhouse, J. A. Crossley, D. A. Aitken, K. Brogan, A. D. Cameron andJ . M. Connor.
Second-trimester prenatal screening markers for Down syndrome in women with insulin- dependent
diabetes mellitus: W. J. Huttly, A. R. Rudnicka and N. J. Wald.
Fetal Cytogenetics
Prenatal diagnosis by rapid aneuploidy detection and karyotyping: a prospective study of the role of
ultrasound in 1589 second-trimester amniocenteses: W. C. Leung, J. J. Waters and L. Chitty
Short Communications
Clinical, cytogenetic, and molecular analyses of prenatally diagnosed mosaic tetrasomy for distal
chromosome 15q and review of the ‘iterature: C.-P Chen, C.-C. Lin, Y.-C. Li, S.-R. Chern, C.-C. Lee,
W.-L. Chen, M.-S. Lee, W. Wang and C.-Y. Tzen
A rare case of de novo distal 19q trisomy prenatally diagnosed: Ss.R ombout, D. Sartenaer, B. Parmentier,
C. Dugauquier and Y. Gillerot
Prenatal diagnosis of primary anophthalmia with ad 3q27 interstitial deletion involving SOX2: A. Guichet,
S. Triau, C. Lépinard, C. Esculapavit, F. Biquard, P Descamps, F. Encha-Razavi andD . Bonneau
Fetal Molecular Biology
Short Communication
First prenatal diagnosis for Wolfram syndrome by molecular analysis of the WFS71 gene: E. Doménech,
H. Kruyer, C. Gomez, M. T. Calvo and V. Nunes ; ‘ : ‘
Fetal Imaging
Changing indications for fetal echocardiography in a University Center population: M. K. Friedberg and
N. H. Silverman .
Evaluation of fetal cardiac contractility by two- dimensional ultrasonography: M. Goldinfeld, E. Weiner,
D. Peleg, E. Shalev and M. Ben-Ami.
Demonstration of cranial sutures and fontanelles at 15- 16 weeks of gestation: a comparison between two-
dimensional and three-dimensional ultrasonography: S. Ginath, A.D ebby and G. Malinger .
Hemodynamic changes with phenotype reversal during pregnancy in twin-twin transfusion syndrome:
G. C. Meyberg-Solomayer, T. Fehm, S. Mackensen-Haen, D. Wallwiener and E. F. Solomayer .
Short Communications
Prenatal diagnosis of tetrasomy 9p in a 19-week-old fetus with Dandy-Walker malformation: a case report:
K. L. Deurloo, J. M. Cobben, Y. M. Heins, M. de Ru, L. C. D. Wijnaendts andJ . M. G. van Vugt . :
Prenatal ultrasound detection ofb ilateral focal a aaaaies L. A. B. Delle Urban, A. Righini, M. A. Rustico,
F. Triulzi and U. Nicolini .
Letters to the Editor
Current Awareness in Prenatal Diagnosis .
ISSUE NUMBER 11, NOVEMBER 2004
Fetal Cytogenetics
Short Communication
Prenatal diagnosis of DMD in a female fetus affected by Turner syndrome: V. Satre, N. Monnier, F. Devillard,
F. Amblard and J. Lunardi . P , ; ? : :
VOLUME CONTENTS
Fetal Molecular Biology and Biochemistry
Prenatal diagnosis for arginase deficiency by second-trimester fetal erythrocyte arginase assay and first-
trimester ARG7 mutation analysis: S. H. Korman, A. Gutman, E. Stemmer, B. S. Kay, Z. Ben-Neriah and
M. Zeigler
Quantitative analysis of cellular fetal hemoglobin gamma chain messenger RNA (HbF-y/ mRNA) in maternal
peripheral blood: 7. Okuda, Y. Kinoshita, T. Tamura, C. Kato, H. Kojima, A. Watanabe and H. Honjo .
Fetal Cells in Maternal Circulation
Improved prenatal detection of a fetal point mutation for achondroplasia by the use of size-fractionated
circulatory DNA in maternal plasma — case report: Y. Li, W. Holzgreve, G. C. M. L. Page-Christiaens,
J. J. P- Gille and S. Hahn ; :
Fetal Imaging
Ultrasound diagnosis of fetal anomalies: an analysis of perinatal management of 318 consecutive
pregnancies in a multidisciplinary setting: H. H. Bijma, E. M. Schoonderwaldt, A. van der Heide,
H. |. J. Wildschut, P. J. van der Maas and J. W. Wladimiroff 7
Prenatal ultrasound diagnosis of a case of Pfeiffer syndrome without cloverleaf skull and rr eview of the
literature: A. Nazzaro, M. D. Monica, F. Lonardo, A. Di Blasi, M. Baffico, M. Baldi, G. Nazzaro, G. De Placido
and G. Scarano
Prenatal diagnosis of deletion of chromosome 6p presenting with hydrops fetalis: C. Suwanrath- Kengpol,
P. Limprasert and W. Mitarnun . ; ; ; ; :
Fetal Infections
A serological testing algorithm for the diagnosis of primary CMV infection in pregnant women: M. Macé,
L. Sissoeff, A. Rudent and L. Grangeot-Keros . , :
Maternal Screening
Age-standardisation when target setting and auditing performance of Down syndrome screening
programmes: H. Cuckle, D. Aitken, S. Goodburn, B. Senior, K. Spencer and S. Standing
Uptake of a prenatal screening test: the role of healthcare Lamemmneed attitudes towards ‘the ‘test:
E. Dormandy and T. M. Marteau
Placenta growth factor levels in second- trimester maternal. serum in: Down syndrome pregnancy and inn the
prediction of preeclampsia: G. Lambert-Messerlian and J. A. Canick . ;
Cost-effectiveness of prenatal screening for thalassaemia in Hong Kong: K. ¥. Leung, C. P Lee, M. H. Y. Tang,
E. T. Lau, L. K. L. Ng, Y. P. Lee, H. Y. Chan, E. S. K. Ma andV . Chan
Psychosocial Aspects
Termination of pregnancy: attitudes and behavior of women in a traditional society: /. Shoham-Vardi,
N. Weiner, D. Weitzman and A. Levcovich
Fetal Invasive Testing
Prenatal diagnostic procedures used in pregnancies with congenital malformations in 14 regions of Europe:
E. Garne, M. Loane, C. de Vigan, G. Scarano, H. de Walle, Y. Gillerot, C. Stoll, M.-C. Addor, D. Stone,
B. Gener, M. Feijoo, C. Mosquera-Tenreiro, M. Gatt, A. Queisser-Luft, N. Baena and H. Dolk
Letters to the Editor
Current Awareness in Prenatal Diagnosis .
ISSUE NUMBER 12, DECEMBER 2004
Preimplantation Genetics and Diagnosis
Preimplantation genetic diagnosis for Niemann-Pick disease type B: A. Hellani, E. H. Schuchman,
A. Al-Odaib, A. Al Aqgeel, K. Jaroudi, P. T. Ozand and S. Coskun
Preimplantation genetic diagnosis for f-thalassaemia: the Sardinian experience: G. Monni, G. Cau, V. Usai,
G. Perra, R. Lai, G. Ibba, V. Faa, F. Incani and M. C. Rosatelli :
Screening for aneuploidies of ten different chromosomes in two rounds ‘of FISH: a short and reliable
protocol: E. B. Baart, E. Martini and D. Van Opstal .
Fetal Cytogenetics
Prenatal search for UPD 14 AND UPD 15 in 83 cases of familial and de novo heterologous Robertsonian
oo ee A. oot F. Dulcetti, M. Miozzo, F. R. Grati, B. Grimi, S. Bellato, F. Natacci, F. — and
G. Simoni ; ; ;
Short Communiention
Postzygotic origin of isochromosome 12p: T. J. L. de Ravel, K. Keymolen, E. van Assche, |. Wittevronghel,
P. Moerman, |. Salden, G. Matthijs, J.-P. Fryns and J. R. Vermeesch .
VOLUME CONTENTS
Fetal Molecular Biochemistry
invited Commentary: Current Issues in Obstetrics and Genetics
Prenatal diagnosis of propionic acidemia: C. Pérez-Cerda, B. Pérez, B. Merinero, L. R. Desviat, P Rodriguez
Pombo and M. Ugarte.
Fetal Molecular Biology
Segregation analysis in cystic fibrosis at-risk family demonstrates that the M348K CFTR mutation is a rare
innocuous polymorphism: M. R. D’Apice, S. Gambardella, S. Russo, V. Lucidi, A.M . Nardone, A. Pietropolli
and G. Novelli '
Profile of B-thalassemia in eastern india and its prenatal diagnosis: A. Bandyopadhyay, S. Bandyopadhyay,
J. Basak, B. C. Mondal, A. A. Sarkar, S. a M. K. Das, S. Chandra, A. +
M. Sanghamita, K. Ghosh and U. B. Dasgupta ; : , ;
Fetal Imaging
Natural history and outcome of prenatally diagnosed cystic hygroma: R. Ganapathy, M. Guven, F. Sethna,
U. Vivekananda and B. Thilaganathan
Prenatal sonographic features of esophageal and ileal duplications at 18 weeks ‘of gestation: A. “Gul,
G. Tekoglu, H. Aslan, A. Cebeci, O. Erol, M. Unal and Y. Ceylan
Fetal echocardiography: are we getting it right?: A. Shub, C. Ward, A. Lee- Tannock, R. Justo and R. Cincotta
Uterine contractions might increase heart preload in the recipient fetus in early-onset twin-twin transfusion
syndrome: an ultrasound assessment: Y. Takahashi, S. lwagaki, Y. Nakagawa, |. Kawabata and T. Tamaya
The influence of image magnification in first-trimester screening for Down syndrome by fetal nuchal
translucency in Asians: J. J. Hsu, C. H. Chiang, C. C. Hsieh and T. T. Hsieh
Short Communication
Prenatal sonographic findings in a case of Varadi-Papp syndrome: M. A. Guven, S. Ceylaner, F. Prefumo and
M. Uzel , ; ‘ ;
Fetal Infections
Cytomegalovirus (CMV) glycoprotein B genotype and CMV DNA load in the amniotic fluid of infected
fetuses: O. Picone, J.-M. Costa, M. Leruez-Ville, P Ernault, M. Olivi and Y. Ville
Letters to the Editor .
Current Awareness in Prenatal Diagnosis .
ISSUE NUMBER 13, DECEMBER 2004
Special Topic Issue: The Diagnosis and Management of Fetal Cardiac Abnormalities
Editorial
Cardiac disease — aetiology, prenatal diagnosis and management: L. Chitty and R. W. Yates . 1031
Reviews
Normal and abnormal fetal cardiac anatomy: A. C. Cook, R. W. Yates and R. H. Anderson 1032
The fetal circulation: T. Kiserud and G. Acharya 1049
Fetal heart scanning in the first trimester: J. S. Carvalho ; 1060
Fetal arrhythmias: the Saint-Justine hospital experience: J.-C. Fouron 1068
Echocardiographic evaluation of cardiac function in the fetus: J. Simpson 1081
New fetal cardiac imaging techniques: J. Deng and C. H. Rodeck. 1092
Fetal cardiac anomalies and genetic syndromes: E. Pajkrt, B. Weisz, H. V. Firth and L. Chitty. 1104
Congenital heart disease and aneuploidy: R. C. Wimalasundera and H. M. Gardiner 1116
Routine fetal cardiac screening: what are we doing and what should we do?: G. Sharland . 1123
Does nuchal translucency have a role in fetal cardiac screening?: J. Hyett. ; 1130
Counselling following a diagnosis of congenital heart disease: L. Allan andI . C. Huggon 1136
The influence of prenatal diagnosis on postnatal outcome in patients with structural congenital heart
disease: R. W. Yates ; ; 1143
Author Index for Volume 24 . 1150
Keyword Index for Volume 24 1154
Volume Contents for Volume 24