Expertise, personalized support
French and American quality and safety standards
The Fetal Medicine Unit screens for the following anomalies:
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:
- specialized fetal ultrasound and echocardiogram
- specialized biological testing
- 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
This combined test assesses the risk of Trisomy 21 (Down syndrome) in the 1st trimester of pregnancy.
If fetal sampling (chorionic villus sampling) is advised:
The 1st trimester prenatal diagnosis can be performed in a half-day.
All exams and consultations (blood test, ultrasound and consultation with a specialist) can be performed in one half-day.
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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.
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 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).
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:
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.
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:
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 are available ten days after the test is performed.
They are interpreted by a doctor specializing in prenatal diagnosis.
This data was confirmed in December 2012 by the American College of Obstetricians and Gynecologists (ACOG).
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.
Please be sure to bring the following documents to your appointment:
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.
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:
Our specialists use the latest technologies available for prenatal diagnosis:
Schedule an appointment with the Fetal Medicine Unit:
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What you should bring :
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Fetal Medicine Unit
Aile D - Niveau 1Telephone : + 33 (0)1 46 41 28 82
Make sure you bring your personal ID and your carte vitale if you are covered by French social security (Assurance Maladie)