The second Early Fetal Scan Conference will explore the emerging and controversial topics of ultrasound diagnosis at 11-14 weeks.

• Early Fetal Scan Update
• NT Debates: Yes or No
• First Trimester Cardiology
• NIPT and Ultrasound
• Rare Early Fetal Anomalies

We are totally committed to the idea of early detection of fetal anomalies at 12-13 weeks. Recent systematic reviews of studies published in 1991-2014 found that first-trimester screening could identify about half of all anomalies(1). We are sure, that with the use of new advanced ultrasound scanners and high-resolution probes together with systematic training of ultrasound specialists the detection rate will be much higher.

There is a false perception that prenatal testing for DS is equivalent to testing for congenital anomalies and intellectual disability

• DS represents less than 10% of all congenital anomalies(2)
• DS attributes to only about 10% cases of intellectual disability(3)
• The best screening test for DS is NIPT, not ultrasound(4)
• NIPT screening alone will leave more than 90% of structural anomalies and about 90% of intellectual disability cases undiagnosed

The contemporary vision of the 11-13 weeks scan: a new alternative approach for early detection of fetal anomalies instead of looking for chromosomal markers.

Examples of important anomalies potentially detectable at 12-13 weeks:

• Congenital heart defects
• Spina bifida
• Congenital diaphragnmatic hernia
• Lethal skeletal dysplasias
• Limb defects
• Cleft lip/palate

The main aim of Early Fetal Scan (EF scan) is screening for structural anomalies.
EF scan represents a systematic from top to toe anatomical review of the fetal organs with special attention to the heart and brain. The optimal time for EF scan is 12-13 weeks of pregnancy (around 12+5 weeks). 11 weeks (CRL below 55 mm) is the suboptimal period due to fetal immaturity (especially brain) and insufficient resolution.

• Early detection of anomalies
• Detection of severe cases with worst prognosis
• Simultaneous with NIPT
• Early prenatal diagnosis (CVS instead amniocentesis)
• Possibility of using transvaginal scanning (TVS)
• Some anomalies are more prominent and better visible
• Time for additional tests and its results (karyotype, arrays, genetic, TORCH, ets) and for counselling by a multidisciplinary team (MDT)
• Option of surgical termination for lethal conditions
• Understating of natural history of anomalies
• If something is unclear on EF scan, there is always time for detailed follow-up scans at 16 and 20 weeks.

1. Karim JN, Roberts NW, Salomon LJ, Papageorghiou AT. Systematic review of first-trimester ultrasound screening for detection of fetal structural anomalies and factors that affect screening performance. Ultrasound Obstet Gynecol. 2017 Oct;50(4):429-441
2. http://www.eurocat-network.eu/accessprevalencedata/prevalencetables
3. Acharya K. Prenatal testing for intellectual disability: misperceptions and reality with lessons from Down syndrome. Dev Disabil Res Rev. 2011;17(1):27-31
4. Gil MM, Accurti V, Santacruz B, Plana MN, Nicolaides KH. Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol. 2017 Sep;50(3):302-314

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