Clinical significance of soft markers in second trimester ultrasonography for pregnant Korean women: a multicenter study and literature review
2
조회
0
다운로드
4
인용
0
참고문헌
키워드
초록
Objective: To evaluate the clinical significance of soft markers for aneuploidy screening in Korean women. Methods: We retrospectively reviewed the medical records of 5,428 singleton pregnant women who underwent sonography during the second trimester at seven institutions in South Korea. We evaluated the prevalence of the following soft markers: intracardiac echogenic focus, choroid plexus cysts, pyelectasis, echogenic bowel, and mild ventriculomegaly. We developed best-fitted regression equations for the fetal femur and humerus length using our data and defined a short femur and humerus as both long bones below the fifth centile. The results of genetic testing and postnatal outcomes were investigated in patients who had been diagnosed with aforementioned soft markers. Results: The median maternal age of our study population was 33 years, and the median gestational age at the time of ultrasonographic examination was 21 weeks. We detected soft markers in 10.0% (n=540) of fetuses: 9.3% (n=504) were isolated cases and 0.7% (n=36) of cases had two or more markers. We identified only two aneuploides (trisomy 18, 46,XX,t[8;10][q22.1;p13]), of which one was clinically significant. We presented the neonatal outcomes of the fetuses with the respective soft markers. Preterm delivery, low birth weight, and small-for-gestational-age (SGA) were significantly more common in women with a shortened fetal femur (P<0.001, all). However, the presence of a shortened fetal humerus was not associated with those outcomes excluding SGA. Conclusion: Soft markers in second-trimester ultrasonography have limited use in screening for fetal aneuploidy in Korean women. However, these markers can be used as a screening tool for adverse outcomes other than chromosomal abnormality.
Abstract
Objective: To evaluate the clinical significance of soft markers for aneuploidy screening in Korean women. Methods: We retrospectively reviewed the medical records of 5,428 singleton pregnant women who underwent sonography during the second trimester at seven institutions in South Korea. We evaluated the prevalence of the following soft markers: intracardiac echogenic focus, choroid plexus cysts, pyelectasis, echogenic bowel, and mild ventriculomegaly. We developed best-fitted regression equations for the fetal femur and humerus length using our data and defined a short femur and humerus as both long bones below the fifth centile. The results of genetic testing and postnatal outcomes were investigated in patients who had been diagnosed with aforementioned soft markers. Results: The median maternal age of our study population was 33 years, and the median gestational age at the time of ultrasonographic examination was 21 weeks. We detected soft markers in 10.0% (n=540) of fetuses: 9.3% (n=504) were isolated cases and 0.7% (n=36) of cases had two or more markers. We identified only two aneuploides (trisomy 18, 46,XX,t[8;10][q22.1;p13]), of which one was clinically significant. We presented the neonatal outcomes of the fetuses with the respective soft markers. Preterm delivery, low birth weight, and small-for-gestational-age (SGA) were significantly more common in women with a shortened fetal femur (P<0.001, all). However, the presence of a shortened fetal humerus was not associated with those outcomes excluding SGA. Conclusion: Soft markers in second-trimester ultrasonography have limited use in screening for fetal aneuploidy in Korean women. However, these markers can be used as a screening tool for adverse outcomes other than chromosomal abnormality.
참고문헌 (40)
- Hurt L, "The Welsh study of mothers and babies : protocol for a population-based cohort study to investigate the clinical significance of defined ultrasound findings of uncertain significance", BMC Pregnancy Childbirth, 14, pp.164~ (2014)
- Verdin SM, "Ultrasonographic markers for chromosomal abnormalities in women with negative nuchal translucency and second trimester maternal serum screen", Ultrasound Obstet Gynecol, 16, pp.402~406 (2000)
- Stefanovic V, "Soft markers for aneuploidy following reassuring first trimester screening : what should be done?", Curr Opin Obstet Gynecol, 27, pp.151~158 (2015)
- 정연준, "Efficacy of fetal cardiac axis evaluation in the first trimester as a screening tool for congenital heart defect or aneuploidy", Obstetrics & Gynecology Science, 63(3), pp.278~285 (2020), 대한산부인과학회[DOI]
- Bromley B, "Echogenic intracardiac focus : a sonographic sign for fetal down syndrome", Obstet Gynecol, 86, pp.998~1001 (1995)
- Chitty LS, "The significance of choroid plexus cysts in an unselected population : results of a multicenter study", Ultrasound Obstet Gynecol, 12, pp.391~397 (1998)
- Sepulveda W, "Fetal echogenic bowel : a complex scenario", Ultrasound Obstet Gynecol, 16, pp.510~514 (2000)
- Royston P, "How to construct ‘normal ranges’ for fetal variables", Ultrasound Obstet Gynecol, 11, pp.30~38 (1998)
- Altman DG, "Charts of fetal size : 1. Methodology", Br J Obstet Gynaecol, 101, pp.29~34 (1994)
- Lorente AMR, "Meta-analysis of validity of echogenic intracardiac foci for calculating the risk of Down syndrome in the second trimester of pregnancy", Taiwan J Obstet Gynecol, 56, pp.16~22 (2017)
- Huang SY, "Intracardiac echogenic focus and trisomy 21 in a population previously evaluated by first-trimester combined screening", Acta Obstet Gynecol Scand, 89, pp.1017~1023 (2010)
- Facio MC, "Cardiac biometry and function in euploid fetuses with intracardiac echogenic foci", Prenat Diagn, 32, pp.113~116 (2012)
- Norton KI, "Prevalence of choroid plexus cysts in term and near-term infants with congenital heart disease", AJR Am J Roentgenol, 196, pp.W326~W329 (2011)
- Beke A, "Risk of chromosome abnormalities in the presence of bilateral or unilateral choroid plexus cysts", Fetal Diagn Ther, 23, pp.185~191 (2008)
- Irani S, "Outcome of isolated fetal choroid plexus cyst detected in prenatal sonography among infertile patients referred to Royan Institute : a 3-year study", Iran J Reprod Med, 13, pp.571~576 (2015)
- DiPietro JA, "Isolated prenatal choroid plexus cysts do not affect child development", Prenat Diagn, 31, pp.745~749 (2011)
- Reddy UM, "Fetal imaging:executive summary of a joint Eunice Kennedy Shriver National Institute of Child Health and Human Development, Society for Maternal-Fetal Medicine, American Institute of Ultrasound in Medicine, American College of Obstetricians and Gynecologists, American College of Radiology, Society for Pediatric Radiology, and society of radiologists in ultrasound fetal imaging workshop", J Ultrasound Med, 33, pp.745~757 (2014)
- Orzechowski KM, "Isolated fetal pyelectasis and the risk of down syndrome : a meta-analysis", Ultrasound Obstet Gynecol, 42, pp.615~621 (2013)
- Kim MK, "Outcome of isolated fetal renal pyelectasis diagnosed during midtrimester screening ultrasound and cut-offvalue to predict a persistent or progressive pyelectasis in utero", J Perinat Med, 4, pp.401~409 (2013)
- Buiter HD, "Outcome of infants presenting with echogenic bowel in the second trimester of pregnancy", Arch Dis Child Fetal Neonatal Ed, 98, pp.F256~F259 (2013)
- D'Amico A, "Outcome of fetal echogenic bowel : a systematic review and meta-analysis", Prenat Diagn, 41, pp.391~399 (2021)
- Ekin A, "The effect of associated structural malformations in the prediction of chromosomal abnormality risk of fetuses with echogenic bowel", J Matern Fetal Neonatal Med, 29, pp.41~45 (2016)
- Simon-Bouy B, "Hyperechogenic fetal bowel and down syndrome. Results of a French collaborative study based on 680 prospective cases", Prenat Diagn, 22, pp.189~192 (2002)
- Goetzinger KR, "Echogenic bowel on second-trimester ultrasonography : evaluating the risk of adverse pregnancy outcome", Obstet Gynecol, 117, pp.1341~1348 (2011)
- Vergani P, "Clinical outcome of mild fetal ventriculomegaly", Am J Obstet Gynecol, 178, pp.218~222 (1998)
- Pagani G, "Neurodevelopmental outcome in isolated mild fetal ventriculomegaly : systematic review and meta-analysis", Ultrasound Obstet Gynecol, 44, pp.254~260 (2014)
- Pilu G, "The clinical significance of fetal isolated cerebral borderline ventriculomegaly : report of 31 cases and review of the literature", Ultrasound Obstet Gynecol, 14, pp.320~326 (1999)
- 정명숙, "단독 태아 경뇌실확장증의 임상적 예후", Clinical and Experimental Pediatrics, 48(8), pp.826~831 (2005), 대한소아청소년과학회
- Benoist G, "The prognostic value of ultrasound abnormalities and biological parameters in blood of fetuses infected with cytomegalovirus", BJOG, 115, pp.823~829 (2008)
- Melchiorre K, "Counseling in isolated mild fetal ventriculomegaly", Ultrasound Obstet Gynecol, 34, pp.212~224 (2009)
- Jelliffe-Pawlowski LL, "Neurodevelopmental outcome at 8 months and 4 years among infants born full-term small-for-gestational-age", J Perinatol, 24, pp.505~514 (2004)
- Jung SI, "Reference charts and equations of Korean fetal biometry", Prenat Diagn, 27, pp.545~551 (2007)
- Kwon JY, "Fetal biometry in the Korean population : reference charts and comparison with charts from other populations", Prenat Diagn, 34, pp.927~934 (2014)
- Goetzinger KR, "The effect of fetal gender in predicting Down syndrome using long bone ultrasonographic measurements", Prenat Diagn, 30, pp.950~955 (2010)
- Mathiesen JM, "Outcome of fetuses with short femur length detected at secondtrimester anomaly scan : a national survey", Ultrasound Obstet Gynecol, 44, pp.160~165 (2014)
- Cho HJ, "Evaluation of the usefulness of the fetal femur length with respect to gestational age to detect down syndrome in Korean subjects", Prenat Diagn, 30, pp.734~738 (2010)
- Gray DL, "Reevaluating humeral length for the detection of fetal trisomy 21", J Ultrasound Med, 28, pp.1325~1330 (2009)
- Goetzinger KR, "Isolated short femur length on second-trimester sonography : a marker for fetal growth restriction and other adverse perinatal outcomes", J Ultrasound Med, 31, pp.1935~1941 (2012)
- de Carvalho AA, "Association of midtrimester short femur and short humerus with fetal growth restriction", Prenat Diagn, 33, pp.130~133 (2013)
- Kaijomaa M, "The significance of the second trimester sonographic soft markers in pregnancies after normal first trimester screening", Prenat Diagn, 33, pp.804~806 (2013)
