An increase in the number of births with at least one congenital anomaly 

In 2022, the prevalence of cases with at least one major congenital anomaly (according to the EUROCAT classification) stood at 342.0 cases per 10,000 total births, or 1 case per 29 births. Trend analysis reveals a significant increase since 2012, with an average annual increase of 0.6%. 

When considering pregnancy outcomes, the data are broken down as follows:

• live births: the prevalence was 256.2 cases per 10,000 live births (approximately 75% of cases), remaining stable over the period;

• voluntary termination of pregnancy (VTP) due to fetal anomaly: the prevalence was 80.9 cases per 10,000 total births, with an average increase of 1.0% per year between 2012 and 2020;

• stillbirths: the prevalence was 7.4 cases per 10,000 total births, generally stable, with a one-time increase in 2022.

Heart, genetic, and limb abnormalities are the most common congenital anomalies

The most common congenital anomalies were: 

• cardiac anomalies (95.2 cases per 10,000 total births), 

• genetic anomalies (including chromosomal and other anomalies: 78.8 cases per 10,000 total births), 

• limb anomalies (including reduction anomalies, polydactyly, clubfoot, etc.: 70.3 cases per 10,000 total births). 

The least common anomalies (prevalence <10 cases per 10,000 total births) included:

• anomalies of the ear, face, and neck, 

• respiratory anomalies 

• eye anomalies.

Genetic abnormalities are the most common congenital anomalies in cases of medically indicated terminations of pregnancy 

The most common groups of congenital anomalies among live births were:

• heart defects (78.5 cases per 10,000 live births), 

• limb anomalies (58.6 cases per 10,000 live births), 

• kidney and urinary tract anomalies (51.5 cases per 10,000 live births). 

The groups of congenital anomalies that most frequently led to medical termination of pregnancy were:

• genetic anomalies (54.5 cases per 10,000 total births),

• central nervous system anomalies (23.8 cases per 10,000 total births), 

• cardiac anomalies (15.7 cases per 10,000 total births).

Many Congenital Anomalies Diagnosed Before Birth

Between 2019 and 2021, nearly 60% of congenital anomalies were diagnosed prenatally. Certain groups of anomalies had particularly high rates (over 75%), notably abdominal wall, renal and urinary, genetic (chromosomal and other), and central nervous system anomalies.

Conversely, the groups of anomalies predominantly diagnosed postnatally include those detected through clinical examination rather than prenatal ultrasound. These include anomalies of the genitalia, eyes, ears, face, and neck. 

Advanced maternal age: a major risk factor for aneuploidies

The prevalence of anomalies associated with a genetic abnormality (including chromosomal abnormalities) was 8 times higher among mothers aged 40 or older (317.9 per 10,000 births) than among those under 25 (41.2 per 10,000 births), primarily due to aneuploidies.