Paeds · fetal-neonatal-and-perinatal
Fetal assessment, prenatal screening and counselling
Also known as Antenatal fetal assessment · Prenatal screening · Cell-free DNA screening · Non-invasive prenatal testing · NIPT · Aneuploidy screening · Mid-trimester anomaly scan · Fetal growth surveillance · Antenatal counselling
Fellowship guide to antenatal fetal assessment and prenatal screening: first-trimester combined screening, mid-trimester anatomy ultrasound, cell-free DNA screening, fetal growth and Doppler surveillance, antepartum fetal-wellbeing testing, screen-versus-diagnosis counselling, soft markers, no-call results, CVS and amniocentesis risk, multidisciplinary planning and regional programme differences.
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Overview & Definition
Most pregnancies are low risk, and most antenatal screening results come back reassuring. The difficulty is that the small number of abnormal or inconclusive results land in the middle of a working antenatal service and demand counselling, decisions and follow-through that families remember for the rest of their lives. Fetal assessment is the set of tests that estimates fetal risk, surveys fetal structure, monitors growth and placental function, and checks fetal wellbeing near term. [4] [8]
The single most important distinction in the whole topic is screening versus diagnosis. Screening estimates a probability. Diagnostic testing confirms or excludes a condition. First-trimester combined screening, cell-free DNA screening and the mid-trimester scan are screens — they tell you whether the chance of a problem is raised. Chorionic villus sampling and amniocentesis are diagnostic — they tell you what the chromosomes actually are. Blurring that line is the most common and most dangerous counselling error. [1] [16]
Antenatal screening fits classic screening principles when the condition is important, an accepted intervention exists, a suitable test is available, and the system can deliver confirmation and care rather than just a result. A positive screen that goes nowhere is not a programme. [6]
What you actually do across pregnancy
Offer and document
Offer aneuploidy and structural screening, and document the result explicitly. Never leave a blank that looks normal.
Name the result state
Record low-risk, increased-risk, inconclusive or declined. Each demands a different action.
Counsel non-directively
Screen is not diagnosis. Offer information, options and time. A no-call is not a low-risk result.
Confirm or surveil
Offer diagnostic testing for true increased-risk results. Plan surveillance for growth or Doppler concerns.
Close the loop
Multidisciplinary planning for confirmed conditions, neonatal alert, named owner, safety-net advice.
You have read the opening of this topic. The complete unit — every section and its primary-source references — is part of the Paediatrics Fellowship fellowship atlas.
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- [1]Norton ME, Jacobsson B, Swamy GK, et al. Cell-free DNA analysis for noninvasive examination of trisomy. The New England journal of medicine, 2015.PMID 25830321
- [2]Gordijn SJ, Beune IM, Thilaganathan B, et al. Consensus definition of fetal growth restriction: a Delphi procedure. Ultrasound in obstetrics & gynecology, 2016.PMID 26909664
- [3]Manning FA, Platt LD, Sipos L. Antepartum fetal evaluation: development of a fetal biophysical profile. American journal of obstetrics and gynecology, 1980.PMID 7355965
- [4]Salomon LJ, Alfirevic Z, Berghella V, et al. ISUOG Practice Guidelines (updated): performance of the routine mid-trimester fetal ultrasound scan. Ultrasound in obstetrics & gynecology, 2022.PMID 35592929
- [5]Salomon LJ, Alfirevic Z, Da Silva Costa F, et al. ISUOG Practice Guidelines: ultrasound assessment of fetal biometry and growth. Ultrasound in obstetrics & gynecology, 2019.PMID 31169958
- [6]Prabhu M, Kuller JA, Biggio JR SMFM Consult Series #57: Evaluation and management of isolated soft ultrasound markers for aneuploidy in the second trimester. American journal of obstetrics and gynecology, 2021.PMID 34171388
- [7]Malone FD, Canick JA, Ball RH, et al. First-trimester or second-trimester screening, or both, for Down's syndrome. The New England journal of medicine, 2005.PMID 16282175
- [8]Lees CC, Romero R, Stampalija T, et al. Clinical Opinion: The diagnosis and management of suspected fetal growth restriction: an evidence-based approach. American journal of obstetrics and gynecology, 2022.PMID 35026129
- [9]American College of Obstetricians and Gynecologists. Fetal Growth Restriction: ACOG Practice Bulletin, Number 227. Obstetrics and gynecology, 2021.PMID 33481528
- [10]American College of Obstetricians and Gynecologists. Antepartum Fetal Surveillance: ACOG Practice Bulletin, Number 229. Obstetrics and gynecology, 2021.PMID 34011889
- [11]Salomon LJ, Sotiriadis A, Wulff CB, et al. Risk of miscarriage following amniocentesis or chorionic villus sampling: systematic review of literature and updated meta-analysis. Ultrasound in obstetrics & gynecology, 2019.PMID 31124209
- [12]Beta J, Zhang W, Geris S, et al. Procedure-related risk of miscarriage following chorionic villus sampling and amniocentesis. Ultrasound in obstetrics & gynecology, 2019.PMID 30977213
- [13]McGoldrick E, Stewart F, Parker R, et al. Antenatal corticosteroids for accelerating fetal lung maturation for women at risk of preterm birth. The Cochrane database of systematic reviews, 2020.PMID 33368142
- [14]Papageorghiou AT, Ohuma EO, Altman DG, et al. International standards for fetal growth based on serial ultrasound measurements: the Fetal Growth Longitudinal Study of the INTERGROWTH-21st Project. The Lancet, 2014.PMID 25209488
- [15]Stirnemann J, Villar J, Salomon LJ, et al. International estimated fetal weight standards of the INTERGROWTH-21st Project. Ultrasound in obstetrics & gynecology, 2017.PMID 27804212
- [16]Society for Maternal-Fetal Medicine Publications Committee. SMFM Statement: clarification of recommendations regarding cell-free DNA aneuploidy screening. American journal of obstetrics and gynecology, 2015.PMID 26458766
- [17]Donofrio MT, Moon-Grady AJ, Hornberger LK, et al. Diagnosis and treatment of fetal cardiac disease: a scientific statement from the American Heart Association. Circulation, 2014.PMID 24763516
- [18]Benachi A, Sarnacki S. Prenatal counselling and the role of the paediatric surgeon. Seminars in pediatric surgery, 2014.PMID 25459006
- [19]Bakker M, Pajkrt E, Bilardo CM. Increased nuchal translucency with normal karyotype and anomaly scan: what next? Best practice & research. Clinical obstetrics & gynaecology, 2014.PMID 24332983