Early Fetal Scan Annual Conference

Congenital Heart Defects at 11-13 weeks:  Screening, Diagnosis & Management

This is our 3rd Early Fetal Scan (EFS) conference and it will be the first conference in the world totally devoted to the Early Fetal Cardiology. We believe that majority of severe congenital heart defects are detectable at 11-13 weeks by properly trained medical professionals. We will review all spectrum of different cardiac anomalies diagnosed at 11-13 weeks of pregnancy by Early Fetal Scan. We will describe and show all technical tips and tricks of early fetal heart screening examination and early fetal echocardiography. The will discuss the questions of 11-13 weeks CHD cases verification and management. We will share our achievements, challenges and limitations. It will be special talk about incorporation of newest genetic technologies into early CHD screening protocols.

Background

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.

Previous EFS Conferencies

1st Annual Early Fetal Scan Conference (2018): Contemporary 11-13 weeks Scan.

  • 100 Early Detectable Anomalies

2nd Annual Early Fetal Scan Conference (2019): Future of the 11-14 Weeks Ultrasound.

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

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.

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

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

References

  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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