Antenatal screening for maternal and fetal health is a rapidly evolving field crucial in obstetric care. Various diagnostic and therapeutic options have emerged to address various fetal conditions. This review offers a comprehensive overview of antenatal maternal screening, focusing on soft markers identified during fetal ultrasound examinations. We will explore the clinical significance of these soft markers and provide a systematic approach to managing cases where they are detected. This review is intended to serve as a valuable resource for pediatricians, neonatologists, and obstetricians with limited experience in fetal medicine. Additionally, we aim to provide clarity and reassurance to parents concerned about the antenatal screening results. By presenting a comprehensive overview of fetal ultrasound soft markers, we hope to empower healthcare professionals and families to make informed decisions regarding fetal health and wellbeing.
DoubiletPM.Ultrasound evaluation of the first trimester. Radiol Clin North Am. 2014;52(6):1191–1199.
2.
CarlsonLM, VoraNL.Prenatal diagnosis: Screening and diagnostic tools. Obstet Gynecol Clin North Am. 2017;44(2):245–256.
3.
BestwickJP, WaldNJ.Antenatal screening for Down’s syndrome, trisomy 18, and trisomy 13: reporting a single screening result for all three. J Med Screen. 2015;22(3):100–105.
4.
NosseirSA, MortadaMM, NofalLM, DabbousNI, AyoubAI.Screening of high-risk pregnancy among mothers attending MCH centers in Alexandria. J Egypt Public Health Assoc. 1990;65(6):463–484.
5.
DriscollDA, GrossSJ, ProfessionalP, GuidelinesC.First-trimester diagnosis and screening for fetal aneuploidy. Genet Med. 2008;10(1):73–75.
6.
RissanenA, NiemimaaM, SuonpaaM, RyynanenM, HeinonenS.First trimester Down’s syndrome screening shows high detection rate for trisomy 21, but poor performance in structural abnormalities—regional outcome results. Fetal Diagn Ther. 2007;22(1):45–50.
7.
RussoML, BlakemoreKJ.A historical and practical review of first-trimester aneuploidy screening. Semin Fetal Neonatal Med. 2014;19(3):183–187.
GoumyC, Bonnet-DupeyronMN, CherasseY, . Chorionic villus sampling (CVS) and fluorescence in situ hybridization (FISH) for a rapid first-trimester prenatal diagnosis. Prenat Diagn. 2004;24(4):249–256.
10.
BoonpiamR, WanapirakC, SirichotiyakulS, . Quad test for fetal aneuploidy screening as a predictor of small-for-gestational-age fetuses: a population-based study. BMC Pregnancy Childbirth. 2020;20:621.
11.
LuoW, HeB, HanD, . A retrospective analysis of different contingent screening models for fetal Down syndrome in Southwestern China. Sci Rep. 2020;10:9457.
12.
HarrawayJ.Non-invasive prenatal testing. Aust Fam Physician. 2017;46(10):735–739.
SteffensenEH, SkakkebaekA, GadsbøllK, . Inclusion of sex chromosomes in noninvasive prenatal testing in Asia, Australia, Europe, and the USA: a survey study. Prenat Diagn. 2023;43(1):144–155.
15.
WangD, PengH, WangY, . Performance of noninvasive prenatal testing for twin pregnancies in South China. J Assist Reprod Genet. 2023;40(11):2219–2231.
16.
RanigaS, DesaiPD, ParikhH.Ultrasonographic soft markers of aneuploidy in the second trimester: are we lost? MedGenMed. 2006;8:9.
17.
VintzileosAM, GuzmanER, SmulianJC, YeoL, ScorzaWE, KnuppelRA.Second-trimester genetic sonography in patients with advanced maternal age and normal triple screen. Obstet Gynecol. 2002;99.
18.
AliMK, ShazlySA, AliAH, AbdelbadeeAY, AbbasAM.Ultrasonographic soft markers of aneuploidy in second-trimester fetuses. Middle East Fertil Soc J. 2012;17(2):145–151.
19.
StefanovicV.Soft markers for aneuploidy following reassuring first-trimester screening: what should be done? Curr Opin Obstet Gynecol. 2015;27(3):151–158.
20.
Society for Maternal-Fetal Medicine; NortonME, BiggioJR, KullerJA, BlackwellSC. The role of ultrasound in women who undergo cell-free DNA screening. Am J Obstet Gynecol. 2017;216(2):B2–B7.
21.
JonesHE, BattagliaS, HurtL, UzunO, BrophyS.Echogenic intracardiac foci detection and location in the second-trimester ultrasound and association with fetal outcomes: a systematic literature review. PLoS One. 2024;19:e0298365.
22.
GuoY, HeY, GuX, . Echogenic intracardiac foci and fetal cardiac anomalies: a review of cases from a tertiary care center in China. J Clin Ultrasound. 2018;46(2):103–107.
23.
BromleyB, LiebermanE, LabodaL, BenacerrafBR.Echogenic intracardiac focus: a sonographic sign for fetal Down syndrome. Obstet Gynecol. 1995;86(6):998–1001.
24.
ShahN.Prenatal diagnosis of choroid plexus cyst: what next? J Obstet Gynaecol India. 2018;68(5):366–368.
25.
PaladiniD, DonariniG, BottelliL, RossiA, ColtriA, FulcheriE.Isolated, persisting, large choroid plexus cysts should warrant neurosonographic follow-up. Ultrasound Obstet Gynecol. 2021;57(6):1006–1008.
26.
HurtK, SottnerO, ZáhumenskýJ, . Choroid plexus cysts and risk of trisomy 18: modifications regarding maternal age and markers. Ceska Gynekol. 2007;72(1):49–52.
27.
DodgeonJ.Fetal choroid plexus cysts and their association with Trisomy 18: 5 years’ prospective ultrasonic screening. Radiography. 2001;7(2):95–100.
28.
OrlandiF, BilardoCM, CampograndeM, . Measurement of nasal bone length at 11–14 weeks of pregnancy and its potential role in Down syndrome risk assessment. Ultrasound Obstet Gynecol. 2003;22(1):36–39.
29.
DukhovnyS, Wilkins-HaugL, ShippTD, BensonCB, KaimalAJ, ReissR.Absent fetal nasal bone: what does it mean for the euploid fetus? J Ultrasound Med. 2013;32(12):2131–2134.
30.
NybergDA, DubinskyT, RestaRG, MahonyBS, HickokDE, LuthyDA.Echogenic fetal bowel during the second trimester: clinical importance. Radiology. 1993;188(2):527–531.
31.
LeeHJ, ChoJY.Quantitative assessment of fetal bowel echogenicity: comparison of harmonic, compound, and fundamental sonographic images. J Clin Ultrasound. 2003;31(6):302–307.
32.
Al-KouatlyHB, ChasenST, StreltzoffJ, ChervenakFA.The clinical significance of fetal echogenic bowel. Am J Obstet Gynecol. 2001;185(5):1035–1038.
33.
RochonM, EddlemanK.Controversial ultrasound findings. Obstet Gynecol Clin North Am. 2004;31(1):61–99.
34.
CassDL, WessonDE.Advances in fetal and neonatal surgery for gastrointestinal anomalies and disease. Clin Perinatol. 2002;29(1):1–21.
35.
ChungK, ThayalanK, KothariA.Echogenic bowel in the second trimester - Where to from here? Australas J Ultrasound Med. 2018;21(1):49–54.
36.
GabrielliL, BonasoniMP, ChiereghinA, . Pathophysiology of hyperechogenic bowel in congenitally human cytomegalovirus-infected fetuses. Microorganisms. 2020;8.
37.
LoardiC, SignorelliM, GregoriniM, . Moderate and severe fetal pyelectasis: Correlation between prenatal aspects and postnatal outcome. J Neonatal Perinatal Med. 2020;13(2):91–96.
38.
FanosV, AgostinianiR, CataldiL.Pyelectasis and hydronephrosis in the newborn and infant. Acta Paediatr. 2000;89(8):900–904.
Martínez-PayoC, CabezasE, NietoY, . Detection of single umbilical artery in the first trimester ultrasound: its value as a marker of fetal malformation. Biomed Res Int. 2014;2014:548729.
MathiesenJM, AksglaedeL, SkibstedL, PetersenOB, TaborA, Danish Fetal Medicine Study Group. Outcome of fetuses with short femur length detected at second-trimester anomaly scan: a national survey. Ultrasound Obstet Gynecol. 2014;44(2):160–165.
46.
Morales-RoselloJ, Peralta LlorensN.Outcome of fetuses with diagnosis of isolated short femur in the second half of pregnancy. ISRN Obstet Gynecol. 2012;2012:268218.
47.
EvansMI, PergamentE.Impact of quality of nuchal translucency measurements on detection rates of trisomies 13 and 18. Fetal Diagn Ther. 2010;27(2):68–71.
48.
BorrellA, CostaD, MartinezJM, . Early midtrimester fetal nuchal thickness: effectiveness as a marker of Down syndrome. Am J Obstet Gynecol. 1996;175(1):45–49.
49.
BianchiDW.Prenatal genetic diagnosis. In: Gleason CA, Devaskar SU, eds. Avery’s Diseases of the Newborn. 9th ed.W.B. Saunders; 2012:180–185.
50.
BreezeACG, LeesCC.Antenatal diagnosis and management of life-limiting conditions. Semin Fetal Neonatal Med. 2013;18(2):68–75.
