Fetal Medicine Unit

The Fetal Medicine Unit offers
the full range of consultations and tests 
to screen for fetal diseases, infections,
chromosomal abnormalities
and malformations.

Contents


What We Do

Prenatal diagnosis, ultrasound, consultations

The Team

Specialist gynecologists, fetal sonographers, geneticist, psychologist

1st Trimester Prenatal Diagnosis

Diagnostics & Testing

Latest-generation equipment and laboratories on site

One Day Test

Fetal DNA

Analysis of fetal DNA in the maternal blood

Patient care

Expertise, personalized support

Quality

French and American quality and safety standards


Informations

Required documents

What We Do

The Fetal Medicine Unit screens for the following anomalies:

  • Trisomy 21 and other chromosomal abnormalities
  • The main fetal malformations
  • Maternal to fetal infections: toxoplasmosis, cytomegalovirus, chicken pox, parvovirus


Screening for these anomalies can be performed during the 1st and 2nd trimester fetal check-up, and results are generally available within 24 hours. 

We also offer genetic consultations.


The aim of these consultations is to screen for parental risk factors such as hemophilia, cystic fibrosis, fragile X syndrome and a host of other disorders for which one or more genes have been identified. 


The Unit can also perform:

  • All prenatal diagnosis exams:

     - specialized fetal ultrasound and echocardiogram
     - specialized biological testing
     - amniocentesis
     - prenatal testing for the main trisomies in the maternal blood (non-invasive analysis of fetal DNA in the maternal blood)
     - CVS (chorionic villus sampling)      
     - fetal blood sampling  

  • Testing for and evaluation of infectious risks (toxoplasmosis, cytomegalovirus)
  • Evaluation and prevention of the risks of premature delivery (diabetes, genetic disease transmission)

The Team

Medical coordinator: Doctor François JACQUEMARD

Administrative coordinator: Pauline ERNAULT

1st Trimester Prenatal Diagnosis


This combined test assesses the risk of Trisomy 21 (Down syndrome) in the 1st trimester of pregnancy.

It includes:

  • Maternal blood test to evaluate 1st trimester free β-HCG and PAPP-A levels
  • Fetal morphology ultrasound: measurement of nuchal translucency and analysis of other markers indicating a risk of chromosomal abnormality / early screening for the main malformations identifiable at this stage
  • Prenatal advisory consultation to explain and discuss the results of the combined test

If fetal sampling (chorionic villus sampling) is advised:

  • It will be performed the same day or the next day
  • Initial results are available within 24 hours

The 1st trimester prenatal diagnosis can be performed in a half-day. 

Diagnostics & Testing

  • Specialized obstetrical ultrasound unit (state-of-the-art sonographic scanner producing two- and three-dimensional high definition images)
  • Clinical laboratory operating 24/7

One Day Test

All exams and consultations (blood test, ultrasound and consultation with a specialist) can be performed in one half-day.
Download our One Day Test brochure 

Fetal DNA

What is non-invasive prenatal screening by fetal DNA analysis?

The prenatal screening test by fetal DNA analysis offers a way to screen for the three main trisomies (chromosomes 21, 13 and 18) as well as sex chromosome abnormalities using a simple maternal blood draw, with no need for CVS or amniocentesis exams (which present a risk of miscarriage, albeit very low).

Starting from the 11th week of amenorrhea, when performed on high-risk populations, this test can detect chromosomal abnormalities at a sensitivity rate greater than 99%.

This test is therefore not a diagnostic test but a highly sensitive screening test.

Three noninvasive prenatal screening tests available

Our Fetal Medicine Unit began offering noninvasive prenatal screening tests in January 2013. To date, 7,000 tests have been performed, making our Unit the most experienced center in France.

Tree tests are now available to provide a personalized solution to parents’ needs.

  • MaterniT21Plus

MaterniT21Plus screens for the three main trisomies (chromosomes 21, 13 and 18) as well as sex chromosome abnormalities.

This test was gradually enhanced in order to identify TRISOMIES 16 and 22, as well as the main microdeletions that are detectable before birth using noninvasive methods. While most of these microdeletion syndromes are rare, some occur more frequently such as the DiGeorge syndrome (around 1/2000).

This test can currently screen for the following microdeletions: 22q11 (DiGeorge syndrome), 5p (Cri-du-chat syndrome), 1p36 deletion, 15q deletion (Prader-Willi/Angelman syndrome), 11q (Jacobsen syndrome), 8q (Langer Giedon syndrome), 4p (Wolf-Hirschhorn syndrome).

  • MaterniT GENOME

Available since September 2015, this test has been performed 900 times to date.

In addition to screening for trisomies 13, 18 and 21, it also detects more than 95% of unbalanced abnormalities higher than or equal to seven megabases. This test analyzes every chromosome of the human genome; its detection threshold is therefore equivalent to that of a fetal karyotype performed via chorionic villus sampling (CVS).

Our Fetal Medicine Unit offers the following three complementary tests:

  • VisibiliT, which screens for trisomies 21 and 18 and costs €360.
  • MaterniT21PLUS, which screens for trisomies 21, 13 and 18 as well as sex chromosome abnormalities and the main microdeletions. The cost is €800.
  • MaterniT GENOME, the most complete and accurate test currently available, which costs €980.
  • Iona

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Iona screens for abnormalities of chromosomes 21 and 18, thus meeting the majority of patient demand. Its sensitivity rate is higher than 99%, even for intermediate- and low-risk populations.

The results are given as risk factors: either the risk for trisomy 21 is above 99%, requiring amniocentesis, or it is below 1/10,000, which is reassuring for patients. 

At €360, this test is the least expensive currently available.

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Who should undergo these tests?

The indications for fetal DNA analysis in the maternal blood, although they are currently being extended, remain very specific and must always be assessed by a specialist.

Prior to fetal DNA analysis, it is important that patients undergo tests to measure pregnancy hormones as well as at least one high-quality fetal morphology ultrasound and a One Day Test.

Typical indications include:

  • Patients deemed high-risk after a combined 1st trimester risk assessment (risk > 1/250 considered high, but also intermediate risk)
  • Patients over 35 years of age 
  • Patients with trisomy antecedents during a previous pregnancy 
  • Presence of a Robertsonian translocation in one of the parents

The main contraindications are the presence of a fetal morphological anomaly and high nuchal translucency measurement. 

Before any samples are taken for the fetal DNA analysis prenatal screening test, patients must meet with a doctor specializing in prenatal diagnosis for a preliminary consultation. Because each patient is unique, each case must be carefully examined.

During this consultation, the patient’s personal and family history will be analyzed and the risks of fetal abnormality will be discussed based on the 1st trimester ultrasound results as well as pregnancy hormone measurements (free β-HCG and PAPP-A). 

Specific details about fetal DNA analysis in the maternal blood will be provided.

Results and interpretations

Results are available ten days after the test is performed.

They are interpreted by a doctor specializing in prenatal diagnosis.

  • A negative result is not 100% accurate but it divides by 100 the risk of Trisomy 21 in the at-risk groups listed above.
  • A positive result means the probability of the child being affected by Trisomy 21 is practically certain (detection rate of over 99% for Trisomy 21), but this result must be confirmed by amniocentesis.

This data was confirmed in December 2012 by the American College of Obstetricians and Gynecologists (ACOG). 

Find out more about the test

Scientific News

Congress of Obstetricians and Gynecologists Committee Opinion

Committee Opinion

International Society for Prenatal Diagnosis

Collège National des Gynécologues et Obstétriciens Français

Future

Experience has proved the benefit of this technique not only for high-risk but also intermediate-risk populations (between 1/250 and 1/1000 and particularly between 1/250 and 1/500), and has led us to reflect on conducting the test on lower-risk populations (we are currently discussing use of the test on patients at a risk of up to 1/2500, who account for approximately 25% of pregnant patients).  

Presentation of our results

Our experience involving high- and intermediate-risk populations now covers almost 6.900 cases; the results are soon to be published.

We presented these results at the Continuing Medical Education evening at the American Hospital of Paris on April 10, 2014 with the participation of Professor Nicolaides (Fetal Medicine Foundation of London), and more recently during the Obstetric Ultrasound Days in Paris, the NJEF, the ACLF, the Port Royal Gynecology and Obstetrics Days and the 15th Aquitaine Region Gynecology and Obstetrics Days.

Practical information

Please be sure to bring the following documents to your appointment:

  • 1st trimester ultrasound reports and images
  • Results from the blood test used to measure pregnancy hormones

Patient Care

The Fetal Medicine Unit aims to help couples in the analysis, decision-making and monitoring of pregnancy when a fetal malformation or abnormality is detected or suspected or when prenatal diagnosis is being considered due to a family history of genetically transmitted disease.

A Unit combining expertise and personalized support

  • The Unit’s internationally renowned doctors are specialized in prenatal diagnosis and fetal medicine.
  • Prenatal advisory consultations and genetic consultations give you the opportunity to meet and speak with our specialists. They will advise you throughout the process so that, together, you may find the solution that suits your needs.
  • The team is English-speaking. Multilingual interpreters (in particular Chinese and Japanese) are also available to assist you.

Quality


The Unit is one of 49 centers in France to be certified by the French Agence de la Biomédecine.

The quality and safety of the care we provide undergo a dual evaluation process ensuring our continuous compliance with the highest safety and treatment efficacy standards:

  • Certification by the French Haute Autorité de Santé (HAS) every four years
  • Accreditation by the Joint Commission, the American organization that accredits hospitals in the United States, every three years


Our specialists use the latest technologies available for prenatal diagnosis:

  • Two state-of-the-art sonographic scanners producing two- and three-dimensional high definition images
  • Rooms dedicated to fetal sampling
  • Specific biological testing
  • Latest-generation software
  • Cutting-edge techniques in molecular biology and molecular cytogenetics

Informations

Schedule an appointment with the Fetal Medicine Unit:

  • By phone: 01 46 41 28 82
  • By email

Coming to the American Hospital of Paris for a consultation or medical exam? 

What you should bring :

For your information : One Day Test Fee information

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Contact Information

Fetal Medicine Unit

Aile D - Niveau 1

Telephone : + 33 (0)1 46 41 28 82

Prior to arrival

Make sure you bring your personal ID and your carte vitale if you are covered by French social security (Assurance Maladie)

Find out more

American Hospital of Paris - 63, Bd Victor Hugo 92200 Neuilly-sur-Seine - France - Tél : +33 (0)1 46 41 25 25

HDN CODE

American Hospital Of Paris