Prenatal screening for fetal abnormalities begins with the first ultrasound. Between the 11th and 14th weeks of pregnancy, a nuchal translucency scan is performed to measure nuchal fold thickness. The nuchal fold is an area that contains fluid, located at the back of the fetus’s neck. This measurement, along with the mother’s age and levels of certain pregnancy hormones, are genetic disorder risk indicators. This data is especially useful for assessing the risk of trisomy 21 (Down Syndrome) and other less common disorders such as trisomy 13 (Patau syndrome), trisomy 18 (Edwards syndrome) and abnormalities affecting sex chromosomes X and Y2.
These parameters can be used to calculate a probability threshold for abnormalities, but cannot be used to confirm a diagnosis. Beyond a certain threshold, additional tests can be proposed such as Non-Invasive Prenatal Testing (NIPT), performed through a simple maternal blood draw, or fetal karyotyping, which examines the fetal chromosomes and requires a tissue sample obtained through amniocentesis or chorionic villus sampling (CVS). These procedures are invasive and carry a low risk of miscarriage, despite a drop in the miscarriage rate of around 0.1 percent according to recent data.
At the end of the first prenatal visit with the midwife or physician, some expectant mothers are given a prescription for several tests, including combined first trimester screening. This test can estimate the risk of trisomy 21 (Down Syndrome) if desired.
The Fetal Medicine Unit of the American Hospital of Paris has been building expertise in combined first semester pregnancy screening since 2007 using the One-Day Test.
The One-Day Test, which can be scheduled rapidly, lasts a half-day, takes place in a single location, and delivers same-day results. It includes:
- Maternal blood test to evaluate first trimester maternal serum markers
- First trimester ultrasound (anatomy scan) performed by a sonographer specialized in fetal medicine
- Measurement of nuchal translucency and screening for other markers that may indicate a risk of chromosomal abnormality
- Early screening for the main fetal abnormalities identifiable at this stage
- Placenta analysis
- Prenatal consultation with a specialist to discuss your screening results
Following these exams and consultations, other tests designed to screen (NIPT) or diagnose (CVS or amniocentesis) will be ordered if necessary.
Non-Invasive Prenatal Testing (NIPT)
The American Hospital of Paris has been providing non-invasive screening expertise to pregnant women since 2013. It is preceded by a prenatal counseling consultation and a simple maternal blood test.
Invasive Prenatal Testing
If the results of ultrasound or other screening tests indicate the need for amniocentesis or CVS testing, our Fetal Medicine Unit has the necessary resources:
- Obstetrician-gynecologists specializing in fetal medicine, available daily at the American Hospital of Paris for procedures such as chorionic villus sampling, amniocentesis and fetal blood sampling
- Cytogenetic and genetic specialists who can provide immediate, appropriate care to pregnant women, in close collaboration with their gynecologist
- Cutting-edge techniques reflecting the latest scientific and medical data enabling access to array comparative genomic hybridization (aCGH)
- Latest-generation testing and diagnostic infrastructure
- Levels of safety and hygiene that meet American and French standards issued respectively by The Joint Commission and the Haute Autorité de Santé
Thanks to the technology available and the agreements in force at the American Hospital of Paris, initial results are provided within 36 to 48 hours.
Cytogenetic and genetic consultations
The Fetal Medicine Unit has a team specially trained in preconception, prenatal and postnatal consultations.
Various consultations are available, designed for:
- Couples with a risk of chromosomal or genetic disorders
- Infertile couples
- Women for whom one or more fetal abnormalities has been identified via ultrasound. In this case, the patient is seen the same day, following the ultrasound.
- Treatment and monitoring of children and adults with a genetic disorder
Our team works closely with pediatricians, neurologists, surgeons, psychiatrists, psychologists, gynecologists, sonographers, primary physicians and allied health professionals (physiotherapists, speech therapists, psychomotor therapists and occupational therapists) and uses leading-edge techniques to assist with molecular diagnostics and treatment.
> Contact the Fetal Medicine Unit to make an appointment: +33 1 46 41 28 82 / firstname.lastname@example.org
If you are thinking about having a baby, a preconception visit with our specialized medical team lets you:
- Supplement your clinical check-up before conceiving
- Undergo additional exams, blood tests or x-rays that are necessary prior to pregnancy
- Receive specialized advice for you and your partner before planning a pregnancy
- Obtain advice on preconception care to avoid certain complications
- Undergo a brief fertility assessment for couples, if desired
- Schedule an appointment for specialized genetic consulting for screening purposes or if you are concerned about a specific pathology
- Talk with our team composed of obstetricians, an anesthesiologist, pediatricians and midwives
- Get psychological support, if needed
- Meet our fertility and ART specialists, if needed
Therapeutic abortion and maternity bereavement
Losing a child is one of life’s most painful experiences. Our Maternity team provides support to couples during this moment of deep sorrow.
We provide a booklet to grieving couples that summarizes the information received during consultations with our team, to help them easily find key information and make important decisions in the days following the death of their child. Each choice is a step in the process and will sometimes require the parents’ signed consent.