10Th INTERNATIONAL CONGRESS of HUMAN GENETICS 2001

12th Fetal Cell Workshop

Prague, May 12 – May 13, 2001

Czech Republic

Satellite symposium of the

10th INTERNATIONAL CONGRESS OF HUMAN GENETICS 2001

Vienna, Austria, May 15 - 19, 2001

within the frame of the

European Union project COPERNICUS-2

under the Auspices of

Prof. J. Koutecký, MD., DSc

Dean of the 2nd School of Medicine, Charles University Prague

Miloslav Ludvík, MSc. Dipl. Ing, Ing.

Director of the University Hospital Motol, Prague

in cooperation with:

Czech Medical Genetics Society of the Czech Medical Society JEP

(President Prof. J. Šantavý, MD., PhD.)

Cytogenetic Section of Czech and Slovak Biological Society

(President Assoc. Prof. Ing. K. Michalová, DSc.)

Neonatological Society of the Czech Medical Society JEP

(President Assoc. Prof. P. Zoban, MD., PhD)

Fetal Medicine Society of the Obstetrical - Gynecological Society of the Czech Medical Society JEP

(President Assoc. Prof. P. Calda, MD., PhD.)

Society for the Prevention of Genetic Diseases of the Czech Medical Society JEP

(President Prof. M. Kučerová, MD., DSc.)

Chairman of the Workshop:

Prof. Howard S. Cuckle, United Kingdom

Chairwoman of the Scientific Committee:

Prof. Diana W. Bianchi, MD., DSc. U.S.A.

Scientific Secretary:

Assoc. Prof. Milan Macek Sr., MD., PhD, Czech Republic

Chairwoman of Local Organizing Committee:

Ilona Hromadníková, MSc, PhD, Czech Republic

1/ Scientific committee: 2/ Local organization committee

Diana Bianchi, USA – chairwoman of scientific committee Ilona Hromadníková - chairwoman

Milan Macek, Sr., Czech Republic – scientific secretary Pavel Roubic – administrative secretary

Michael Christiansen, Denmark Martina Broučková, Jan Diblík,

Howard Cuckle, United Kingdom Markéta Havlovicová, Milan Macek Jr.

Sinuhe Hahn, Switzerland Eva Hladíková, Renáta Vincenciová

Ian Hoovers, Netherlands Milena Palánová, Martina Simandlová, Dennis Lo, China Kateřina Štechová, Jan Vejvalka,

Šárka Vejvalková, Milada Matějčková

Šárka Vilímová, Pavlína Potužníková

TABLE OF CONTENTS

Organization 4

Program 8

Detailed Program 11

Abstracts 19

Session A: Fetal Cells in Maternal Blood for Non-invasive Prenatal Diagnosis 20

A1 New Markers 21

A2 Molecular Cytogenetics 26

A3 Fetal Cell Culture 31

A4 Clinical Trials 36

A5 Technical Reports 38

Session B: Fetomaternal Cellular and DNA Trafficking 44

Session C: Clinical Applications of Fetal DNA in Maternal Plasma 49

Session D: New Molecular Genetic and Cytogenetic Methods for Preimplantation and Prenatal Genetic Diagnosis 56

D1 Preconceptional Diagnosis 57

Preimplantation Diagnosis 61

D2 Molecular Cytogenetics 62

D3 Molecular Genetics - Clinical Trials 66

D4 Prenatal Diagnosis 70

Session E: First Trimester Biochemical and Ultrasound Screening 78

Copernicus 2 Meeting 90

List of Participants 102

List of Participating Comapanies 115

Index of Authors 122

ORGANIZATION

Venue:

University Hospital Motol of 2nd Medical School of Charles University, Prague, Prague 5, VÚvalu 84, 150 06, Czech Republic. Follow the signs from the main, “Kukulova str.”, entrance to the Main Lecture Hall. Charles University Medical Center is easily accessible from the Prague International Airport, major Prague railway stations or directly by car from the “D5”-Pilsen-Nürnberg expressway, with an option of internal parking. For more details see: http://www.lf2.cuni.cz/Ustavy/ublg/e_sekret.html. For more details and maps see Internet.

1/ Access from Prague airport: Bus line 179 goes directly to Univ. Hospital (~20 min), get out at bus

stop “Nemocnice Motol”. Names of actual bus stops are indicated in the bus itself in an sequential order.

(Bus/metro/tram ticket is universal for all three major forms of Prague municipal transportation. It can

be purchased at “yellow” street automatic vendors; 1 adult ticket costs 12 Kč (use only coins) and is

fully transferable for metro, bus and tram lines within 60 minutes (Mon-Fri) and 90 minutes (Sat-Sun),

ie. staple it only once you first enter the transportation system in “yellow” slot validators located either

in buses, trams and in metro entrances).

2/ Access from railway stations -Holešovice or Hlavní Nádraží and from the Prague city center:

Use metro line "A" to get to station “Hradčanská” and then use bus line 174 from bus stop “Špejchar” or use metro line "B" to get to station “Anděl” and then use bus line 167 from bus stop “Na Knížecí”, with both bus lines get out at bus stop “Nemocnice Motol”. Transportation from the airport or from the city center to the University Hospital Motol usually takes 30-50 minutes depending on the time of the day and respective “rush hours”. In working days buses / metro operate in 10´ intervals, but during the weekend bus / metro intervals are substantially longer (metro goes in 15´ intervals; buses 167 and 174 go in 15´, while 179 and 217 in 30´ intervals).

3/ Access from the Charles University Pension, Praha 5-Jinonice, Praha 5, U Kříže 8: The hotel itself is located on metro station “Jinonice” on line “B”. To get to the University Hospital Motol proceed to station “Nove Butovice” via line ”B” and use bus 179 located outside the metro station. Alternatively, go via line B to station “Anděl” and use bus line 167 from bus stop “Na Knížecí” and in both instances get out at station Nemocnice Motol

4/ Access from Hotel Coubertin, Sportovní areál Strahov, Atletická 4, 169 00 Praha 6-Strahov: use bus line 217 to get to its final bus stop “Na Knížecí”, there change to bus line 167 (see above)

5/ Access from student hotel Kajetánka Praha 6, Radimova 12: use bus line 174 located near the park adjacent to the Hotel Kajetánka – get out at bus stop Nemocnice Motol

6/ Access from Guesthouse of the Ministry of Education, Praha 1, Dlouhá 17: see 2/ from Prague city center

7/ Access from Hotel Mövenpick, Praha 5, Mozartova 261/1: optimally use taxi service/hotel service, since public transportation (bus line 167 station "Na Knížecí") is further away and accessibleonly after a 15´ walk

8/ Access from Hotel CRYSTAL, Praha 6, Jose Martiho 2/407: Use tram line 26 one station to its final stop at “Divoká Šárka” – cross the street and use bus 179 from bus stop “Libocká” and get out at bus stop Nemocnice Motol

9/ Small shuttle busses will be also available for arrival and departure from the site of symposium.

10/ Taxi service will be also available on direct phone call – use company AAA taxi (phone 14014, http://www.aaa.radiotaxi.cz) or ProfiTaxi (phone 1035)

Registration:

Friday, May 11, 2001 – 2 pm – 8 pm

Saturday, May 12, 2001 – 8 am – 6 pm

Sunday, May 13, 2001 – 8 am – 1 pm

University Hospital Motol of 2nd Medical School of Charles University, Prague, Prague 5, VÚvalu 84, 150 06, Czech Republic.

At the registration there will be fax and telephone service, as well as booking of tourist and cultural performances.

Papers for publications will be sampled at the registration room, preferably in an electronic format.

Nearby the registration room there will be will be an information board for messages with the map of Prague and time-tables for particular busses of interest.

Workshop fee:

Participants with lectures and their coworkers will not pay workshop fee and they will have all allowances as participants with workshop fee.

Participants without lectures will pay workshop fee of CZK 1000,-- (cca Euro 28,--; USD 26,--; GBP 18,--). Workshop fee covers: refreshment, two lunches, welcome dinner reception, concert, book of abstracts, symposium materials. Workshop fee has to be paid during registration in Czech Crowns and in cash. Change the money also for coins at the airport, railway station or any Prague Money change offices.

Farewell dinner in Žofín Restaurant in the center of Prague has to be booked during registration May 11 and 12 and has to be paid in cash in Czech crownsCZK at the registration site.

Presentation of companies:

Space and stands for demonstration of enlisted companies is directly linked to the lecture hall. Their participation is in the list of participants. The space for companies demonstration will be locked overnight and guarded by University Hospital Seccurity since Friday, May 10, 2001 to Monday, May 14, 2001.

Accommodation:

1/ Guest House of Ministry of School and Education***, Praha 1, Dlouhá 17, phone +420 2 231 7040. fax +420 2 232 1179, price per night cca 900,-- CZK

2/ Pension of Charles University***, Praha 5-Jinonice, Praha 5, U Kříže 8, phone +420 2 51080111, double bed rooms, single bed per night cca 700,-- CZK, two beds per night cca 900,-- CZK. This hotel is also with good transportation possibility to the Prague center and Motol.

3/ Student Hotel Kajetánka**, Praha 6, Radimova 12, phone +420 2 2051 3118, fax 2051 3423, single bed room price per night cca 350,--; double bed room price per night cca 300,--

4/ Guest rooms of University Hospital Motol**, Praha 5, VÚvalu 84

5/ Hotel Mövenpick*****, Praha 5, Mozartova 261/1, phone +420 2 5715 1111, fax +420 2 5715 3131, e-mail , http://www.moevenpick-hotels.com, price per night cca 6000,-- CZK per double room

6/ Hotel Coubertine***, Český Svaz tělesné výchovy a sportu, Sportovní areál Strahov, Atletická 4, 169 00 Praha 6-Strahov, phone +420 2 33353109, fax +420 2 20513208, e-mail , price single room one night are 1400,-- CZK (1 DM is cca 18 CZK), breakfast included.

7/ Hotel CRYSTAL***, Praha 6, Jose Martiho 2/407 in the same price category, breakfast included, with good transportation to Motol, closer to the Prague airport.

Social and culture program:

First day

Welcome reception, concert of classical music.

Second day

Farewell party for a price CZK 500,-- (cca Euro 14,--; USD 13,--; GBP 9,--)

Booking of tickets for concerts, other cultural and tourist program will be provided at registration site. Tickets for concerts and theatres are for cca 500,-- CZK.

General informations:

Weather conditions: The average temperature in Prague in May is +13 – +18oC (+55 – +64oF). Although this month is usually quite sunny, it is recommended that you bring a raincoat.

Electricity: 220 – 240 VAC.

Lunches and refreshments will be provided in University Hospital restaurant and during coffee breaks. Lunches and refreshments will be served in the right section of University Hospital Restaurant (see arrows).

Official language: English, no simultaneous translation

Lecture room will be equipped with single- and double slide projection (format 5 cm x 5 cm – 35mm film) as well as data projection and overhead projection.

Data projection: Projector and computer will be provided. Take with you your presentation in Powerpoint version for Windows 2000 on floppy-disc, better on CD-ROM. External ZIP drive will be available. It is strongly recommended that you visit your session room to check the compatibility of your presentation and make yourself familiar with its operation. Nevertheless, the preparation of classical slides 5 cm x 5 cm is strongly recommended to avoid the problems with technical errors or incompatibility. The slide projection control before any session will be available and is necessary before handing over to the special personal.

Final program and last minute program changes

Abstracts, list of participants and participating companies will be available since May 3, 2001. 2001 at the website (http://fcw.lf2.cuni.cz/).

Correspondence:

Correspondence for foreign participants should be delivered to the hands of the scientific secretary:

Associate Prof. Milan Macek, MD., PhD.

Institute of Biology and Medical Genetics

Laboratory of Assisted Reproduction and Reproductive Genetics

150 06 Praha 5, VÚvalu 84

Czech Republic

Phone: +420 2 2443 3524, Fax: +420 2 2443 3523

Email:

Correspondence of Czech participants should be delivered to the hands of chairwoman of local organization committee:

Dr. Ilona Hromadníková

2nd Children Clinic of University Hospital Motol and of 2nd Medical Faculty, Prague

Laboratory of Cell Biology

VÚvalu 84, 150 06, Prague 5

Czech Republic

Phone +420 2 2443 2258, Fax +420 2 2443 2220

E-mail:

PROGRAM

Saturday May 12, 2001

Session A

(in main lecture hall)

FETAL CELLS IN MATERNAL BLOOD

FOR NONINVASIVE PRENATAL DIAGNOSIS

Welcome ceremony 9:00 - 9:30

Session A1: NEW MARKERS (chairpersons I. Van Wijk, I. Hromadníková ) 9:30 – 10:010

Coffee break 10:1000 - 10:125

Session A2: MOLECULAR CYTOGENETICS (chairpersons M. Hultén, K. Michalová) 10:125 – 11:010

Session A3: FETAL CELL CULTURE (chairpersons S. Hahn, M. R. de Alba) 11:00 – 11:55

Session A3: FETAL CELL CULTURE (chairpersons E. Guetta, M. R. de Alba) 11:10 – 12:05

Session A4: CLINICAL TRIALS 12:01:55 – 12:125

Lunch 12:215 - 14:00

Session A5: TECHNICAL REPORTS (chairpersons H. Schuring-Bloom, T. Zolotukhina) 14:00 - 15:15

Session B

(in main lecture hall)

FETOMATERNAL CELLULAR AND DNA TRAFFICKING

Charpersons: D. Bianchi, V. Holzgreve 15:30 – 17:30

Charpersons: D. Bianchi, S. Hahn 15:30 – 17:20

Welcome party 19:00 - 22:00

Sunday May 13, 2001

Session C

(in main lecture hall)

CLINICAL APPLICATIONS OF FETAL DNA IN MATERNAL PLASMA

Coffee break 10:20 - 10:35

Session D

(in main lecture hall)

New molecular genetic and cytogenetic methods

for PREIMPLANTATION AND PRENATAL GENETIC DIAGNOSIS

Session D1: PRECONCEPTIONAL DIAGNOSIS (chairpersons: F.Pellestor, C. Petit) 10:35 – 11:20

PREIMPLANTATION DIAGNOSIS

Session D2: MOLECULAR CYTOGENETICS (chairpersons: Y. Verlinski, O. GoK. Johnsonnul) 11:20 - 12:15

Session D3: MOLECULAR GENETICS – CLINICAL TRIALS

(chairpersons: A. Kuliev, K. Sermon) 12:15 - 13:20

Lunch 13:20 - 14:200

Session D4: PRENATAL DIAGNOSIS (chairpersons: T. Liehr, E. Schwinger) 14:020 - 15:240

Coffee break 15:240 - 15:535

Sunday May 13, 2001

Session E

(in main lecture hall)

FIRST TRIMESTER BIOCHEMICAL AND ULTRASOUND SCREENING

Monday May 14, 2001

(in small lecture hall on 2nd floor of the main University Hospital Building)