Early Fetal Scan Annual Conference
Advanced Screening for Congenital Anomalies at 12-13 weeks
On this first conference we will review huge spectrum of different anomalies detected at 11-13 weeks of pregnancy by Early Fetal Scan. In reality we will present much more than 100 anomalies/syndromes. Every fetal anomaly will be demonstrated on high quality videos and will be discussed with special attention to clinical importance and management. In relevant cases 3D volumes will be also reviewed.
This scientific meeting will summarise more than 15 years experience of Dr Fred Ushakov’s exploration in the area of early diagnosis of fetal anomalies.
We totally committed to the idea of early detection of fetal anomalies at 12-13 weeks. Recent systematic review of studies published in 1991-2014 found that first-trimester screening could identify about half of all anomalies(1). We are sure, that with use of new advanced ultrasound scanners and high-resolution probes together with systematic training of ultrasound specialists the detection rate will be much higher.
Down’s Syndrome (DS) facts
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 left undiagnosed more than 90% of structural anomalies and about 90% of intellectual disability cases
Moving from 11-13 weeks DS scan to Early Fetal Scan
The contemporary vision on 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
Definition of Early Fetal Scan
The main aim of Early Fetal Scan (EF scan) is screening for structural anomalies.
EF scan represents 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). The 11 weeks (CRL below 55 mm) is suboptimal period due to fetal immaturity (especially brain) and insufficient resolution.
10 Main Advantages of Early Fetal Scan
- 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 counseling by 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.
- 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
- Acharya K. Prenatal testing for intellectual disability: misperceptions and reality with lessons from Down syndrome. Dev Disabil Res Rev. 2011;17(1):27-31
- 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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