Gutenberg Center in MALAGA



Similar documents
Prenatal screening and diagnostic tests

First Trimester Screening for Down Syndrome

Prenatal Testing Special tests for your baby during pregnancy

your questions answered the reassurance of knowing A guide for parents-to-be on noninvasive prenatal testing.

LEUKODYSTROPHY GENETICS AND REPRODUCTIVE OPTIONS FOR AFFECTED FAMILIES. Leila Jamal, ScM Kennedy Krieger Institute, Baltimore MD

A test your patients can trust.

PREGNANCY INFORMATION PACK. Peace of mind throughout pregnancy

Non-Invasive Prenatal Testing (NIPT) Factsheet

Obstetrical Ultrasound and Prenatal Diagnostic Center

Trisomy 13 (also called Patau s syndrome or T13)

Screening for chromosomal abnormalities at weeks: the role of ductus venosus blood flow

Sonographic screening for trisomy 13 at 11 to 13 D6 weeks of gestation

In - Vitro Fertilization Handbook

Clinical Studies Abstract Booklet

School of Diagnostic Medical Sonography

The costs of having a baby. Private system

cfdna in maternal plasma obtained from a population undergoing routine screening at weeks gestation.

Screening for trisomy 21 by fetal tricuspid regurgitation, nuchal translucency and maternal serum free β-hcg and PAPP-A at to13+ 6 weeks

Universal Fetal Cardiac Ultrasound At the Heart of Newborn Well-being

The California Prenatal Screening Program

The first 3,000 Non-Invasive Prenatal Tests (NIPT) with the Harmony test in Belgium and the Netherlands

Noninvasive Prenatal Screening for Fetal Aneuploidies and Microdeletions Using Cell-Free Fetal DNA

CONFIDENT CODING FOR OB/GYN CONFIDENT CODING FOR OB/GYN

Patient information on soft markers

How to choose an IVF clinic and understand success rates: Questions to ask when choosing an IVF clinic.

Preimplantation Genetic Diagnosis (PGD) in Western Australia

CONGENITAL HEART DISEASE

Carol Ludowese, MS, CGC Certified Genetic Counselor HDSA Center of Excellence at Hennepin County Medical Center Minneapolis, Minnesota

Neural tube defects: open spina bifida (also called spina bifida cystica)

Carrier detection tests and prenatal diagnosis

Balanced. translocations. rarechromo.org. Support and Information

A Guide to Prenatal Genetic Testing

Each person normally has 23 pairs of chromosomes, or 46 in all. We inherit one chromosome per pair from our mother and one from our father.

CHROMOSOMES Dr. Fern Tsien, Dept. of Genetics, LSUHSC, NO, LA

The California Prenatal Screening Program

Information on the anomaly scan

The weeks scan

FAMILY PLANNING AND PREGNANCY

Consent to Perform Preimplantation Genetic Screening (PGS) using. Comparative Genomic Hybridization (acgh) or Next Generation Sequencing (NGS)

Post-Qualification Education in Ultrasound in Obstetrics and Gynecology for Advanced Midwives

Patient & Family Guide Pre-Existing Diabetes and Pregnancy

Birth defects. Report by the Secretariat

Noninvasive Prenatal Testing for Fetal Aneuploidies Using Cell- Free Fetal DNA

REPRODUCTIVE MEDICINE AND INFERTILITY ASSOCIATES Woodbury Medical Arts Building 2101 Woodwinds Drive Woodbury, MN (651)

Preimplantation genetic diagnosis new method of screening of 24 chromosomes with the Array CGH method...2

Who Is Involved in Your Care?

Applications of Doppler Ultrasound in Fetal Growth Assessment. David Cole

Executive summary. Current prenatal screening

The quadruple test screening for Down s syndrome and spina bifida

BUTTE COUNTY PUBLIC HEALTH DEPARTMENT POLICY & PROCEDURE

General and Objectives Clinical Skills for. Nursing Students in Maternity and Gynecology. Nursing Department

Genetics and Pregnancy Loss

Triploidy. rarechromo.org

The First Trimester Screening program

ROUTINE HEART EXAM AND

Early Pregnancy Assessment Unit EPAU

fi АУ : fi apple Ав Ав АУ . apple, АУ fiав Ав. АК applefi АУ, АУАв Ав fi АУ apple fi Ав. А applefi АУ АУ АУ АсА» Ас Ам, длappleapple Ас...

LOG BOOK Approved by The European Board and College of Obstetrics and Gynaecology

Genetic Counseling: A Profession in the Making. Jessica Hooks, MS Genetic Counselor University of South Carolina

The Mysterious World of OB Ultrasound Coding

A test your patients can trust. A company you know and trust.

How To Use A Voluson Compact Ultrasound System

Frontomaxillary and mandibulomaxillary facial angles at to13+ 6 weeks in fetuses with trisomy 18

Ultrasound Examinations Performed by Nurses in Obstetric, Gynecologic, and Reproductive Medicine Settings: Clinical Competencies and Education Guide

Disclosure Information. What You Need to Know: Changes in OB/GYN Coding. Invalid Codes. Revised Diagnosis Codes. New Diagnosis Codes

Pre-implantation Genetic Diagnosis (PGD)

Risk Calculation Software Requirements for Down's Syndrome Screening

European IVF Monitoring (EIM) Year: 2008

What Is Genetic Counseling? Helping individuals and families understand how genetics affects their health and lives

REI Pearls: Pitfalls of Genetic Testing in Miscarriage

Information for you A low-lying placenta (placenta praevia) after 20 weeks

Assisted reproductive technologies (ART) in Canada: 2011 results from the Canadian ART Register

Provider Notification Obstetrical Billing

Reproductive Health Group

Basic Human Genetics: Reproductive Health and Chromosome Abnormalities

Rural Health Advisory Committee s Rural Obstetric Services Work Group

Prognosis of Very Large First-Trimester Hematomas

Preimplantation Genetic Diagnosis. Evaluation for single gene disorders

The following chapter is called "Follow-ups with a Positive or a Negative Pregnancy Test".

The National Down Syndrome Cytogenetic Register for England and Wales: 2008/9 Annual Report

INFORMED CONSENT AND AUTHORIZATION FOR IN VITRO FERTILIZATION OF PREVIOUSLY CRYOPRESERVED OOCYTES

Weeks Scan Project Newsletter

obstetric and gynecology department on two sub-specialty services: maternal fetal medicine

Ultrasound scans in pregnancy

Trisomies 13 and 18. -Maternal age. (Patau and Edward s syndrome)

CHLAMYDIA SCREENING IN WOMEN

Fact sheet 9. Screening for ovarian cancer

Risks and complications of assisted conception

Assisted Reproductive Technologies at IGO

Diagnostic Medical Sonography

Artificial insemination

Transcription:

Introduction Gutenberg Center in MALAGA Gutenberg Center in Málaga opened in 1987 as a clinic to provide integral assisstance for women, divided into 6 Units, specialized in the different aspects of Obs and Gyne care: - Ultrasound and Fetal Medicine (Director: Dr. Guillermo Azumendi ), - Assissted reproduction and andrology (Director: Dr. Martínez Moya), - Oncology and breast Gynecology ( Director: Dr. Leopoldo Burgos ), - Endoscopy (Director: Dr.Miguel Rodrigo Olmedo), - Antenatal care ( Director: Dr.Alejandro Azumendi) - Paediatric ultrasound (Director: Dr. Ignacio Alonso Usabiaga). There are 52 professionals working at the moment in the Clinic in Málaga, (including Obs and Gyne specialists, radiologists, anesthesiology experts, biologists, nurses and administrative staff), with an infrastructure of 1800 m 2 slip into examination rooms, consultation rooms, operation theatre for ambulatory surgery and IVF interventions, laboratories, waiting areas, meeting rooms and a lecture room for 70 people. The technical and human resources enable us to offer a wide range of diagnostic tests, interventions and treatments in Obs and Gyne patients including assisted conception ( IVF; ICSI, semen and egg donation, preimplantation diagnosis ), routine antenatal care, endoscopic surgery ( hysteroscopy and laparoscopy), routine gynaecologic follow up and family planning.

Location Ultrasound and Fetal Medicine Unit of the Gutenberg Center ( www.eco4d.com ) The Ultrasound and Fetal Medicine Unit has its main building in Málaga, at the Centro Gutenberg (5 Gutenberg st,). In addition there are two branches; one in Algeciras (59 Virgen del Carmen, 1 st floor) since January 2010, and the other one in Granada (10 Rey Abu Said st), since 2012. MALAGA ALGECIRAS GRANADA Medical staff We are proud of our highly qualified medical team which is formed by 10 doctors specialized in the fetal medicine field: 9 of them are gynaecologist that hold the accreditation of level IV by the Obs and Gyne Spanish Society (SEGO) and 1 radiologist experienced in prenatal and paediatric ultrasound. Dr. Guillermo Azumendi (Director of the Unit, O&G specialist, Fetal Medicine specialist) Dra. Marisa Borenstein (O&G specialist, Fetal Medicine specialist) Dra. Francisca Molina (O&G specialist, Fetal Medicine specialist) Dra. María Romero (O&G specialist, Fetal Medicine specialist) Dr. Ignacio Alonso ( Especialista en Radiodiagnóstico ) Dr. Antonio Calvo del Pozo (O&G specialist) Dr. José Ramón Herrero (O&G specialist) Dr. Isidoro Narbona (O&G specialist) Dr. José Ramón Andérica (O&G specialist) Dr. Gastón Grant (O&G specialist) In addition to the level IV given by SEGO, all the members of the medical staff have certification by the Fetal Medicine Foundation, London to perform several prenatal diagnostic and therapeutic techniques. The Fetal Medicine Foundation demands annual audits and recertification.

Pfr. Nicolaides visited our unit in 2007 We have a close relationship with the Fetal Medicine Foundation, London, and with all the professionals that work at the different hospitals under the care of Professor Nicolaides. Two members of our Unit ( Dr Francisca Molina and Dr Marisa Borenstein ) have been trained in the Fetal Medicine Foundation and Harris Birthright Research Centre at King s College Hospital, London, under the direct supervision of Prof. Nicolaides for a three-year period. All the doctors work in the three Units attending the agenda needs, commuting to Málaga, Algeciras and Granada when requested. Examination room #1 Málaga Examination room #2 Málaga Examination room #3 Málaga. Examination room #4 Málaga Examination room #5 Málaga Operating theatre Málaga Examination room #1 Algeciras Examination room #2 Algeciras Examination room Granada Technologic resources At a technologic level, The Ultrasound and Fetal Medicine Unit, we use most advanced ultrasound equipment, with annual renovation of software and hardware to maintain a high standard. At present we are using 2 Voluson E8 BT-13 and 3 Voluson 730 expert.

Procedures We are in a position to perform all the ultrasound examinations available as well as diagnostic invasive and non-invasive genetic tests and intrauterine fetal therapy. List of Procedures we offer: - Genetic counselling pre and postconception, in collaboration with the clinical geneticist of the laboratory of reference CGC, Madrid ( www.cgcgenetics.com ) - Pre implantation diagnosis - Gynecologic ultrasound and breast ultrasound - Paediatric ultrasound - Prenatal ultrasound: - Viability scan - 11-13+6 weeks scan including: Ultrasound markers, fetal anatomy, cardiac evaluation. Risk calculation for chromosomal abnormalities (trisomy 21, 13 and 18) in combination with maternal serum biochemistry. Screening for preeclampsia and fetal growth restriction.

- Anomaly scan at 20-22 weeks including: -cervical assessment as screening for premature labor - uterine artery Doppler as screening of preeclampsia. - Fetal echocardiography. The timing to perform this scan depends on the indication, and could be done from 16 weeks onwards, or have a first approach to the fetal heart at 12 weeks in selected cases. - Well being scan and Doppler in the second half of pregnancy - 3D/4D Ultrasound to see the fetal face as requested by parents and to aid the diagnosis of fetal malformations in selected cases. We have incorporated the software called HD live in this assessment that provides pictures with more realism. - Non invasive screening in maternal blood to rule out chromosomal abnormalities such as trisomy 21, 13, 18 and sex chromosomes. We have either the Panorama test, the Harmony test or the BGI test available from 9, 10 and 12 weeks of pregnancy respectively. This test has been developed to avoid the fetal loss rate of 1% related to invasive procedures.

- Invasive tests for genetic analysis (QF-PCR, BOBs (BAC s-om-beads), conventional culture, CGH array, array for specific conditions, metabolic tests). We offer two options for a rapid result (QF-PCR in 72hs, and BoBs in 7 days) and the conventional karyotype ready in 3-4 weeks. This new method to analyse the fetal sample called BOB s ( Gestagene ) provides information about the number of chromosomes as well as gain or loss of DNA related to some genetic syndromes. The rationale of this test is the fact that all the genetic syndromes investigated additionally have higher prevalence than the Down s syndrome for which the invasive testing was performed. Moreover, some of these syndromes can not be detected with the full karyotype. We offer this test to all patients that undergo an invasive test at no extra cost. The conditions that can be detected with the BOB s analysis are: Down syndrome, Edwards syndrome, Patau syndrome, Anomalies related to sex chromosomes, Angelman syndrome, Smith-Magenis syndrome, Wolf-Hirschhorn syndrome, Cri du Chat syndrome, Di George syndrome, Langer-Giedion syndrome, Williams syndrome, Miller-Dieker syndrome, Prader-Willi syndrome. All invasive techniques are ultrasound guided: - chorionic villous sampling (at 11-14 weeks ) transabdominal or transvaginal according to placental location - amniocentesis ( from 16 weeks onwards) - cordocentesis The risk of miscarriage after CVS or amniocentesis is defined as 1% above the expected risk of miscarriage at the gestation in which the test is done. - Fetoscopic laser treatment for monochorionic twin pregnancies complicated by TTTS ( twin to twin transfusión syndrome ). Dr. Francesca Molina trained with Pf Kypros Nicolaides to perform this technique for wich a skilled operator is needed. She has done 120 intrauterine laser ablations of the placenta for TTTS, with very good results, comparable to those published by the main european fetoscopic centers.

Educational activities In addition to the clinical and research duties, the medical staff is highly dedicated to educational activities in the Unit. The Unit has the certification of the SEGO to give level II and level III for gynaecologist in their first steps in the prenatal ultrasound and fetal medicine field. We have organized 28 courses in 3D/4D ultrasound in Obs and Gyne in a basic level, since February 2008; and 2 advanced courses. Some of them have been held in English for foreign doctors who came from other European countries.

In addition, courses for specific subjects have been organized with international invited speakers, to discuss topics as neurosonography and 3D evaluation of fetal CNS (October 2011 for 100 participants, October 2012 for 50 participants ), and fetal cardiac evaluation and STIC (October 2012 for 60 participants). For all these activities, we have in the location in Málaga a lecture room prepared with all audiovisual and technical support to give theoretical and practical courses up to 70 participants.

In the last years we have organized 2 International Courses in Fetal-Maternal Medicine with several well known Spanish and international speakers for 400 participants (Málaga, September 2007, Fuengirola September 2009).

Particularities of the Ultrasound and Fetal Medicine Unit There are a few aspects in which our Unit is considered a pioneer in the field of the prenatal ultrasound and our aim is to keep all the medical staff constantly updated and trained in new techniques performed in prenatal diagnosis. One third of our appointments arise from referrals for 2 nd opinion from different centers in Andalucia or patient who travel long distances to be seen. We adapted the protocols of the Harris Birthrigth Research Center at King s College Hospital, London, to suit the local needs and requirements of our patients and law, and have been using them and updating them for the last 10 years. Not many Centers in Andalucia follow these guidelines. We would like to point out the importance of the first trimester screening (at 11-13+6 weeks) as well as the anomaly scan with premature delivery screening (at 20-22 weeks). There are two main aspects that are critically important when performing theses examinations : the expertise of the operator and the ultrasound equipment used. The introduction of new ultrasound probes with high resolution made it possible to improve the performance of the 1 st and 2 nd trimester fetal scans, because it is possible to obtain much better images of the fetus, with transabdominal or transvaginal approach, increasing the detection of malformations as early as 12 weeks of pregnancy. In addition, in the last decade, a large number of publications have established that the first trimester screening is the most effective way to perform a screening test for chromosomal abnormalities at 11-13+6 weeks of gestation. It is recognized nowadays in most international medical societies that invasive testing for maternal age (over 35 years old) it is not longer accepted as routine practice, therefore a screening test needs to be incorporated as a standard and universal procedure. This screening process includes risk calculation for trisomy 21, trisomy 18 and 13 and it is based on maternal age, nuchal translucency thickness and maternal serum hcg and PAPP-A. To improve the detection rate and reduce false positive results, additional ultrasound markers could be included in the assessment and risk calculation, such as ductus venosus flow, tricuspid flow, presence of nasal bones and facial angle. It has been already established that the blood test has more diagnostic efficacy when taken at 9 weeks rather than 13 weeks. On the other hand, the best gestational age to perform the genetic scan is between 12 and 13 weeks. Therefore, we usually obtain the blood sample around week 9 ( the results become available within 3-4 days) and then we ask the patient to come back in week 12 or 13 to carry out the ultrasound examination. We then combine the data from the blood test with the ultrasound findings and we calculate the Risk for trisomies 21, 18 and 13 and give the patient a report with the results of the screening during the same visit. This strategy is called Two Steps approach. Another approach is to see the patient at 12 weeks, perform the scan before and then draw blood for maternal serum bioquemistry. After 3-4 days when the results becames available, we calculate the risk and call the patient to inform the combined risk and send her the report with all the details. Should the patient request an invasive test, we arrange for her a chorionic villous sampling in the next 2 days, in our clinic in Malaga.

A detail and early evaluation of the fetal anatomy is important in the detection of defect related to chromosomal abnormalities. Such evaluation is also relevant in cases of previous history of fetal malformations including cardiac defects. This assessment has been refered as mini anomaly scan and the aim is to see as much as possible in order to give patients clear information as soon as possible in pregnancy. In this respect, when abnormal markers are present or a defect is suspected/detected a chorionic villous sampling is offered to the parents with the chance to have a result in 3 days to find out about the most common chromosomal abnormalities and give them the opportunity to decide for an early TOP before 14-15 weeks. In our Unit, we therefore strongly recommend our patient to opt for 1 st trimester screening rather than 2 nd trimester biochemistry screening. The anomaly scan performed between 20-22 weeks is the opportunity to detect the vast majority of the severe fetal malformations. In addition to the detailed examination of the fetal anatomy we pay special attention to the heart which is the less diagnosed and the most frequent defect to cause mortality and morbidity in the newborn. Even in the most experienced hands, the detection of cardiac defects prenatally remains low, but it is critically important for those who are diagnosed, to be delivered in a unit in which the newborn can have the adequate care, to improve the prognosis of the condition and outcome. In this respect we have in our staff four doctors with extensive training in the fetal heart. The anomaly scan is the opportunity to do screening for two other conditions that could complicate the pregnancy for the mother or the fetus in the following weeks: premature delivery and preeclampia/fetal growth restriction. We therefore recommend to do a transvaginal scan to measure the cervical length to calculate the risk of premature delivery. If the cervix is shorter than 25mm in singleton pregnancies, it is recommended to prescribe progesterone and close follow up. On the other hand, if the cervical length is normal, no further tests are indicated. We started in our Unit to do this assessment two years ago routinely and about 98% of patients accept the transvaginal scan. The screening for preeclampsia/fetal growth restriction/placental insufficiency could be performed in the first trimester by combination of maternal characteristics, maternal blood preassure, PAPPA MoM, and uterine artery Doppler, according to recent literature. We are currently using the 2 nd trimester screening using the mean pulsatility index of the uterine artery Doppler that should not exceed 1.45. If the measurement is higher than expected, it is recommended to monitor the fetal growth every 4 weeks by ultrasound including the assessment of the fetal circulation by Doppler, and monitor maternal blood preassure every 4 weeks in order to improve the early detection of complications and define timing of delivery in a hospital with the adequate infrastructure if the delivery is premature. In summary, the Fetal Medicine Unit in Gutenberg Center has the most advanced ultrasound equipment as well as a highly qualified medical team in order to provide assistance in all aspects of the Fetal Medicine field with high standards.