Citation Information :
Merz E, Pashaj S. Embryonic and Early Fetal Abnormalities Diagnosed with Three-dimensional Ultrasound in the First Trimester. Donald School J Ultrasound Obstet Gynecol 2023; 17 (3):202-216.
Compared to two-dimensional (2D) ultrasonography, three-dimensional (3D)/four-dimensional (4D) ultrasound allows the examiner and the parents-to-be to visualize normal embryonic and early fetal development in a completely new way. In particular, with a high-resolution transvaginal 3D/4D probe in the 3D surface mode, important anatomical details can already be seen in the first trimester, just like in a photo. With 4D sonography, movements of the embryo/fetus can also be detected without motion artifacts. As part of a targeted early diagnosis of malformations, the experienced operator can already detect a certain number of larger defects, which means that clinical consequences can be drawn much earlier. Likewise, in the event of a risk of recurrence of a certain malformation, a normal finding can be convincingly demonstrated to the expectant parents at an early stage. Nevertheless, it must be taken into account, however, that various fetal malformations cannot yet be detected in the first trimester even with 3D sonography, which is why a further targeted malformation examination in the 2nd trimester cannot be dispensed with.
Merz E, Weber G, Bahlmann F, et al. Application of transvaginal and abdominal three-dimensional ultrasound for the detection or exclusion of malformations of the fetal face. Ultrasound Obstet Gynecol 1997;9(4):237–243. DOI: 10.1046/j.1469-0705.1997.09040237.x
Merz E, Abramowicz JS. 3D/4D ultrasound in prenatal diagnosis: is it time for routine use? Clin Obstet Gynecol 2012;55(1):336–351. DOI: 10.1097/GRF.0b013e3182446ef7
Merz E, Pashaj S. Advantages of 3D ultrasound in the assessment of fetal abnormalities. J Perinat Med 2017;45(6):643–650. DOI: 10.1515/jpm-2016-0379
Pooh RK, Kurjak A. Novel application of three-dimensional HDlive imaging in prenatal diagnosis from the first trimester. J Perinat Med 2015;43(2):147–158. DOI: 10.1515/jpm-2014-0157
Merz E. Normal early pregnancy (First trimester). In Merz E (ed.). Ultrasound in Obstetrics and Gynecology. Vol 1 Obstetrics. 2005. pp. 17–25.
Callen PW. Ultrasound in Obstetrics and Gynecology. 2000. pp. 105–145.
Lindsay DJ, Lovett IS, Lyons EA, et al. Yolk sac diameter and shape at endovaginal US: predictors of pregnancy outcome in the first trimester. Radiology 1992;183(1):115–118. DOI: 10.1148/radiology.183.1.1549656
Levi CS, Lyons EA, Lindsay DJ. Early diagnosis of nonviable pregnancy with endovaginal US. Radiology 1988;167(2):383–385. DOI: 10.1148/radiology.167.2.3282258
Bree RL, Edwards M, Böhm-Vélez M, et al. Transvaginal sonography in the evaluation of normal early pregnancy: correlation with hCG level. AJR Am J Roentgenol 1989;153(1):75–79. DOI: 10.2214/ajr.153.1.75
Doubilet PM, Benson CB, Bourne T, et al. Diagnostic criteria for nonviable pregnancy early in the first trimester. N Engl J Med 2013;369(15):1443–1451. DOI: 10.1056/NEJMra1302417
Yegul NT, Filly RA. The expanded amnion sign: evidence of early embryonic death. J Ultrasound Med 2009;28(10):1331–1335. DOI: 10.7863/jum.2009.28.10.1331
Yeh HC, Rabinowitz JG. Amniotic sac development: ultrasound features of early pregnancy—the double bleb sign. Radiology 1988;166:97–103. DOI: 10.1148/radiology.166.1.3275972
Doubilet PM, Benson CB. Embryonic heart rate in the early first trimester: what rate is normal? J Ultrasound Med 1995;14(6):431–434. DOI: 10.7863/jum.1995.14.6.431
Doubilet PM, Benson CB, Chow JS. Outcome of pregnancies with rapid embryonic heart rates in the early first trimester. ARJ Am J Roentgenol 2000;175(1):67–69. DOI: 10.2214/ajr.175.1.1750067
Bayer ASH, Altman J. The Human Brain During the Late First Trimester. 2006.
Timor-Tritsch I, Farine D, Rosen MG. A close look at early embryonic development with the high-frequency transvaginal transducer. Am J Obstet Gynecol 1988:159(3):676–681. DOI: 10.1016/s0002-9378(88)80033-4
Blaas HG, Eik-Nes SH, Kiserud T, et al. Early development of the abdominal wall, stomach and heart from 7 to 12 weeks of gestation: a longitudinal ultrasound study. Ultrasound Obstet Gynecol 1995;6(4):240–249. DOI: 10.1046/j.1469-0705.1995.06040240.x
van Zalen-Sprock RM, van Vugt JM, van Geijn HP. First and early second trimester diagnosis of anomalies of the central nervous system. J Ultrasound Med 1995;14(8):603–610. DOI: 10.7863/jum.1995.14.8.603
Merz E. Physiological umbilical herniation—a distinctive sonographic feature in the embryonic stage. Ultraschall Med 2017;38(2):123–124. DOI: 10.1055/s-0043-102825
Yamada Sh, Takakuwa T. Introduction - Developmental overview of the human embryo. The human embryo. 2012.1-20.
Moradan S, Forouzeshfar M. Are abnormal yolk sac characteristics important factors in abortion rates? Int J Fertil Steril 2012;6(2):127–130. PMID: 25493170.
Tan S, Gülden Tangal N, Kanat-Pektas M, et al. Abnormal sonographic appearances of the yolk sac: which can be associated with adverse perinatal outcome? Med Ultrason 2014;16(1):15–20. DOI: 10.11152/mu.2014.2066.161.st1gt2
Gersak K, Veble A, Mulla ZD, et al. Association between increased yolk sac diameter and abnormal karyotypes. J Perinat Med 2012;40(3):251–254. DOI: 10.1515/jpm.2011.140
Sepulveda W, Leible S, Ulloa A, et al. Clinical significance of first trimester umbilical cord cysts. J Ultrasound Med 1999;18(2):95–99. DOI: 10.7863/jum.1999.18.2.95
Ghezzi F, Raio L, DI Naro E, et al. Single and multiple umbilical cord cysts in early gestation: two different entities. Ultrasound Obstet Gynecol 2003;21(3):215–219. DOI: 10.1002/uog.68
Benirschke J, Kaufmann P. Pathology of the Human Placenta. Springer; 2000.
Frazier HA, Guerrieri JP, Thomas RL, et al. The detection of a patent urachus and allantoic cyst of the umbilical cord on prenatal ultrasonography. J Ultrasound Med 1992;11(2):117–120. DOI: 10.7863/jum.1992.11.2.117
Sepulveda W, Bower S, Dhillon HK, et al. Prenatal diagnosis of congenital patent urachus and allantoic cyst: the value of color flow imaging. J Ultrasound Med 1995;14(1):47–51. DOI: 10.7863/jum.1995.14.1.47
Weissman A, Jakobi P, Bronshtein M, et al. Sonographic measurements of the umbilical cord and vessels during normal pregnancies. J Ultrasound Med 1994;13(1):11–14. DOI: 10.7863/jum.1994.13.1.11
Shipp TD, Bromley B, Benacerraf BR. Sonographically detected abnormalities of the umbilical cord. Int J Gynaecol Obstet 1995;48(2):179–185. DOI: 10.1016/0020-7292(94)02297-c
Smith GN, Walker M, Johnston S, et al. The sonographic finding of persistent umbilical cord cystic masses is associated with lethal aneuploidy and/or congenital anomalies. Prenat Diagn 1996;16(12):1141–1147. DOI: 10.1002/(SICI)1097-0223(199612)16:12<1141::AID-PD2>3.0.CO;2-4
Cullen MT, Green J, Whetham J, et al. Transvaginal ultrasonographic detection of congenital anomalies in the first trimester. Am J Obstet Gynecol 1990;163(2):466–476. DOI: 10.1016/0002-9378(90)91177-e
O'Rahilly R, Müller F. Developmental Stages in Human Embryos. Carneg Instn Publ; 1987.
Moore KL. Persaud TVN. Embryologie 4. Auflage: Schattauer. Verlag. 1996:485.
Hardt W, Entezami M, Vogel M, et al. Die fetale exenzephalie—vorstadium der anenzephalie? Ein kasuistischer beitrag. Geburtsh Frauenheilk 1999;59(3):135–138. DOI: 10.1055/s-1999-14176
Blaas HGK, Eik-Nes HS. Sonoembryology and early prenatal diagnosis of neural anomalies. Prenat Diagn 2009;29(4):312–325. DOI: 10.1002/pd.2170
Becker R, Mende B, Stiemer B, et al. Sonographic markers of exencephaly at 9 + 3 weeks of gestation. Ultrasound Obstet Gynecol 2000;16(6):582–584. DOI: 10.1046/j.1469-0705.2000.00298.x
Nishi T, Nakano R. First-trimester diagnosis of exencephaly by transvaginal ultrasonography. J Ultrasound Med 1994;13(2):149–151. DOI: 10.7863/jum.1994.13.2.149
Chatzipapas IK, Whitlow BJ, Economides DL. The ‘Mickey Mouse’ sign and the diagnosis of anencephaly in early pregnancy. Ultrasound Obstet Gynecol 1999;13(3):196–199. DOI: 10.1046/j.1469-0705.1999.13030196.x
Sepulveda W, Sebire NJ, Fung TY, et al. Crown-chin length in normal and anencephalic fetuses at 10 to 14 weeks’ gestation. Am J Obstet Gynecol 1997;176(4):852–855. DOI: 10.1016/s0002-9378(97)70610-0
van Zalen-Sprock MM, van Vugt JM, van dHarten HJ, et al. Cephalocele and cystic hygroma: diagnosis and differentiation in the first trimester of pregnancy with transvaginal sonography. Report of two cases. Ultrasound Obstet Gynecol 1992;2(4):289–292. DOI: 10.1046/j.1469-0705.1992.02040289.x
van Zalen-Sprock RM, van Vugt JM, van Geijn HP. First-trimester sonographic detection of neurodevelopmental abnormalities in some single-gene disorders. Prenat Diagn 1996;16(3):199–202. DOI: 10.1002/(SICI)1097-0223(199603)16:3<199::AID-PD828>3.0.CO;2-I
Blaas HG. Holoprosencephaly at 10 weeks 2 days (CRL 33 mm). Ultrasound Gynecol Obstet 2000;15(1):86–87. DOI: 10.1046/j.1469-0705.2000.00062.x
Matsunaga E, Shiota K. Holoprosencephaly in human embryos: epidemiologic studies of 150 cases. Teratology 1977;16(3):261–272. DOI: 10.1002/tera.1420160304
Sepulveda W, Lutz I, Be C. Holoprosencephaly at 9 weeks 6 days in a triploid fetus: two- and 3-dimensional sonographic findings. J Ultrasound Med 2007;26(3):411–414. DOI: 10.7863/jum.2007.26.3.411
Sepulveda W, Dezerega V, Be C. First-trimester sonographic diagnosis of holoprosencephaly: value of the “butterfly” sign. J Ultrasound Med 2004;23(6):761–765; quiz 766-7. DOI: 10.7863/jum.2004.23.6.761
Timor-Tritsch IE, Monteagudo A, Santos R. Three-dimensional inversion rendering in the first- and early second-trimester fetal brain: its use in holoprosencephaly. Ultrasound Obstet Gynecol 2008;32(6);744–750. DOI: 10.1002/uog.6245
Dandy WE, Blackfan KD. Internal hydrocephalus—an experimental, clinical and pathological study. Am J Dis Child. 1914;8:406–482. DOI: 10.1001/archpedi.1914.02180010416002
Taggart JK Jr, Walker AE. Congenital atresia of the foramens of Luschka and Magendie. Arch Neurol Psychiat 1942;48(4):583–612. DOI: 10.1001/archneurpsyc.1942.02290100083008
Achiron R, Achiron A, Yagel S. First trimester transvaginal sonographic diagnosis of Dandy-Walker malformation. J Clin Ultrasound 1993;21(1):62–64. DOI: 10.1002/jcu.1870210115
Bornstein E, Goncalves Rodriguez JL, Alvares Pavon EC, et al. First-trimester sonographic findings associated with a Dandy-Walker malformation and inferior vermian hypoplasia. J Ultrasound Med 2013;32(10):1863–1998. DOI: 10.7863/ultra.32.10.1863
Bronshtein M, Zimmer EZ, Blazer S. Isolated large fourth ventricle in early pregnancy—a possible benign transient phenomenon. Prenat Diagn 1998;18(10):997–1000. DOI: 10.1046/j.1469-0705.1998.12040252.x
Gorlin RJ, Cervenka J, Pruzansky S. Facial clefting and its syndromes. Birth Defects Orig Artic Ser 1971;7(7):3–49. PMID: 4950925.
Lidral AC, Moreno LM, Bullard SA. Genetic factors and orofacial clefting. Semin Orthod 2008;14(2):103–114. DOI: 10.1053/j.sodo.2008.02.002
Merz E, Pashaj S. Prenatal detection of orofacial clefts. Ultraschall Med 2016;37(2):133–135. DOI: 10.1055/s-0042-104405
Tolarová MM, Cervenka J. Classification and birth prevalence of orofacial clefts. Am J Med Genet 1998;75(2):126–137. PMID: 9450872.
Doray B, Badila-Timbolschi D, Schaefer E, et al. Epidemiology of orofacial clefts (1995-2006) in France (Congenital Malformations of Alsace Registry). Arch Pediatr 2012;19(10):1021–1029. DOI: 10.1016/j.arcped.2012.07.002
Jones KL. Smith's Recognizable Patterns of Human Malformation. 5th edition. WB Saunders; 1997.
Merz E. Anomalies of the head. In Merz E (ed.). Ultrasound in Obstetrics and Gynecology. Vol 1 Obstetrics. 2005. pp. 212–245.
Turner GM, Twining P. The facial profile in the diagnosis of fetal abnormalities. Clin Radiol 1993;47(6):389–395. DOI: 10.1016/s0009-9260(05)81058-x
Nicolaides KH, Spencer K, Avgidou K, et al. Multicenter study of first-trimester screening for trisomy 21 in 75 821 pregnancies: results and estimation of the potential impact of individual risk-orientated two-stage first-trimester screening. Ultrasound Obstet Gynecol 2005;25(3):221–226. DOI: 10.1002/uog.1860
Merz E, Thode C, Alkier A, et al. A new approach to calculating the risk of chromosomal abnormalities with first-trimester screening data. Ultraschall Med 2008;29(6):639–645. DOI: 10.1055/s-2008-1027958
Kagan KO, Wright D, Baker A, et al. Screening for trisomy 21 by maternal age, fetal nuchal translucency thickness, free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A. Ultrasound Obstet Gynecol 2008;31(6):618–624. DOI: 10.1002/uog.5331
Merz E, Thode C, Eiben B, et al. Prenatal Risk Calculation (PRC) 3.0: an extended DoE-based first-trimester screening algorithm allowing for early blood sampling. Ultrasound Int Open 2016;2(1):E19–E26. DOI: 10.1055/s-0035-1569403
Hyett J, Perdu M, Sharland G, et al. Using fetal nuchal translucency to screen for major congenital cardiac defects at 10-14 weeks of gestation: population based cohort study. BMJ 1999;318(7176):81–85. DOI: 10.1136/bmj.318.7176.81
Souka AP, Krampl E, Bakalis S, et al. Outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency in the first trimester. Ultrasound Obstet Gynecol 2001;18(1):9–17. DOI: 10.1046/j.1469-0705.2001.00454.x
Snijders RJM, Pandya P, Brizot ML, et al. Ultrasound Markers for Fetal Chromosomal Defects. Parthenon Publishing; 1996.
Ghi T, Huggon IC, Zosmer N, et al. Incidence of major structural cardiac defects associated with increased nuchal translucency but normal karyotype. Ultrasound Obstet Gynecol 2001;18(6):610–614. DOI: 10.1046/j.0960-7692.2001.00584.x
Cicero S, Avgidou K, Rembouskos G, et al. Nasal bone in first-trimester screening for trisomy 21. Am J Obstet Gynecol 2006;195(1):109–114. DOI: 10.1016/j.ajog.2005.12.057
Borrell A, Gonce A, Martinez JM, et al. First-trimester screening for Down syndrome with ductus venosus Doppler studies in addition to nuchal translucency and serum markers. Prenat Diagn 2005;25(10):901–905. DOI: 10.1002/pd.1203
Maiz N, Plasencia W, Dagklis T, et al. Ductus venosus Doppler in fetuses with cardiac defects and increased nuchal translucency thickness. Ultrasound Obstet Gynecol 2008;31(3):256–260. DOI: 10.1002/uog.5262
Faiola S, Tsoi E, Huggon IC, et al. Likelihood ratio for trisomy 21 in fetuses with tricuspid regurgitation at the 11 to 13 + 6-week scan. Ultrasound Obstet Gynecol 2005;26(1):22–27. DOI: 10.1002/uog.1922
Scala C, Morlando M, Familiari A, et al. Fetal tricuspid regurgitation in the first trimester as a screening marker for congenital heart defects: systematic review and meta-analysis. Fetal Diagn Ther 2017;42(1):1–8. DOI: 10.1159/000455947
Ghaffari SR, Tahmasebpour AR, Jamal A, et al. First-trimester screening for chromosomal abnormalities by integrated application of nuchal translucency, nasal bone, tricuspid regurgitation and ductus venosus flow combined with maternal serum free β-hCG and PAPP-A: a 5-year prospective study. Ultrasound Obstet Gynecol 2012;39(5):528–534. DOI: 10.1002/uog.10051
Wassef M, Blei F, Adams D, et al. Vascular anomalies classification: recommendations from the International Society for the Study of vascular anomalies. Pediatrics 2015;136(1):e203–e214. DOI: 10.1542/peds.2014-3673
Merz E. Transvaginal detection of fetal anomalies. In Merz E (ed.). Ultrasound in Obstetrics and Gynecology. Vol 1 Obstetrics. 2005. pp. 45–48.
Shulman LP, Phillips OP, Emerson DS, et al. Fetal ‘space-suit’ hydrops in the first trimester: differentiating risk for chromosome abnormalities by delineating characteristics of nuchal translucency. Prenat Diagn 2000;20(1):30–32. PMID: 10701847.
Has R. Nonimmune hydrops fetalis in the first trimester: a review of 30 cases. Clin Exp Obstet Gynecol 2002;28(3):187–190.
Sohan K, Carroll S, Byrne D, et al. Parvovirus as a differential diagnosis of hydrops fetalis in the first trimester. Fetal Diagn Ther 2000;15(4):234–236. DOI: 10.1159/000021013
Buisson O, De Keersmaecker B, Senat MV, et al. Sonographic diagnosis of spina bifida at 12 weeks: heading towards indirect signs. Ultrasound Obstet Gynecol 2002;19(3):290–292. DOI: 10.1046/j.1469-0705.2002.00660.x
Chaoui R, Benoit B, Mitkowska-Wozniak H, et al. Assessment of intracranial translucency (IT) in the detection of spina bifida at the 11-13-week scan. Ultrasound Obstet Gynecol 2009;34(3):249–252. DOI: 10.1002/uog.7329
Gembruch U, Knöpfle G, Chatterjee M, et al. First-trimester diagnosis of fetal congenital heart disease by transvaginal two-dimensional and Doppler echocardiography. Obstet Gynecol 1990;75(3 Pt. 2):496–498. PMID: 2304721.
Dolkart LA, Reimers FT. Transvaginal fetal echocardiography in early pregnancy: normative data. Am J Obstet Gynecol. 1991;165(3):688–691. DOI: 10.1016/0002-9378(91)90310-n
Johnson P, Sharland G, Maxwell D, et al. The role of transvaginal sonography in the early detection of congenital heart disease. Ultrasound Obstet Gynecol 1992;2(4):248–251. DOI: 10.1046/j.1469-0705.1992.02040248.x
Allan L, Cook A, Huggon I. Fetal Echocardiography—A Practical Guideline. Cambridge. Cambridge University Press; 2009. pp. 190–202.
Khalil A, Nicolaides KH. Fetal heart defects: potential and pitfalls of first-trimester detection. Semin Fetal Neonatal Med 2013;18(5):251–260. DOI: 10.1016/j.siny.2013.05.004
Cantrell JR, Haller JA, Ravitch MM. A syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium, and heart. Surg Gynecol Obstet 1958;107(5): 602–614. PMID: 13592660.
Toyama WM. Combined congenital defects of the anterior abdominal wall, sternum, diaphragm, pericardium, and heart: a case report and review of the syndrome. Pediatrics. 1972;50(5):778–779. PMID: 4263752.
Dobell AR, Williams HB, Long RW. Staged repair of ectopia cordis. J Pediatr Surg 1982;17(4):353–358. DOI: 10.1016/s0022-3468(82)80487-9
Hoyme HE, Higginbottom MC, Jones KL. The vascular pathogenesis of gastroschisis: intrauterine interruption of the omphalomesenteric artery. J Pediatr 1981;98(2):228–231. DOI: 10.1016/s0022-3476(81)80640-3
deVries PA. The pathogenesis of gastroschisis and omphalocele. J Pediatr Surg 1980;15(3):245–251. DOI: 10.1016/s0022-3468(80)80130-8
Perrella RR, Ragavendra N, Tessler FN, et al. Fetal abdominal wall mass detected on prenatal sonography: gastroschisis vs omphalocele. AJR Am J Roentgenol 1991;157(5):1065–1068. DOI: 10.2214/ajr.157.5.1833958
Shaw A. The myth of gastroschisis. J Pediatr Surg 1975;10(2):235–244. DOI: 10.1016/0022-3468(75)90285-7
Merz E. Anomalies of the gastrointestinal tract and anterior abdominal wall. In Merz E (ed.). Ultrasound in Obstetrics and Gynecology. Vol 1 Obstetrics 2005. 297–311.
Guzman ER. Early prenatal diagnosis of gastroschisis with transvaginal ultrasonography. Am J Obstet Gynecol 1990;162(5):1253–1254. DOI: 10.1016/0002-9378(90)90029-7
Whitlow BJ, Chatzipapas IK, Lazanakis ML, et al. The value of sonography in early pregnancy for the detection of fetal abnormalities in an unselected population. Br J Obstet Gynecol 1999;106(9):929–936. DOI: 10.1111/j.1471-0528.1999.tb08432.x
Duhamel B. Embryology of exomphalos and allied malformations. Arch Dis Child 1963;38(198):142–147. DOI: 10.1136/adc.38.198.142
Howell H, Fox BT. First trimester diagnosis of omphalocele: differentiating between omphalocele and normal physiologic gut herniation. J Diagnostic Med Sono 2015;31(4):261–264. DOI: 10.1177/8756479315581900
Klein MD, Kosloske AM, Hertzler JH. Congenital defects of the abdominal wall. A review of the experience in New Mexico. JAMA 1981;245(16):1643–1646. PMID: 6451717.
Ginsberg NE, Cadkin A, Strom C. Prenatal diagnosis of body stalk anomaly in the first trimester of pregnancy. Ultrasound Obstet Gynecol 1997;10(6):419–421. DOI: 10.1046/j.1469-0705.1997.10060419.x
Lince DM, Pretorius DH, Manco-Johnson ML, et al. The clinical significance of increased echogenicity in the fetal abdomen. AJR Am J Roentgenol 1985;145(4):683–686. DOI: 10.2214/ajr.145.4.683
De Oronzo MA. Hyperechogenic fetal bowel: an ultrasonographic marker for adverse fetal and neonatal outcome? J Prenat Med 2011;5(1):9–13. PMID: 22439068.
Green JJ, Hobbins JC. Abdominal ultrasound examination of the first-trimester fetus. Am J Obstet Gynecol 1988;159(1): 165–175. DOI: 10.1016/0002-9378(88)90515-7
Braithwaite JM, Armstrong MA, Economides DL. Assessment of fetal anatomy at 12 to 13 weeks of gestation by transabdominal and transvaginal sonography. Br J Obstet Gynecol 1996;103(1):82–85. DOI: 10.1111/j.1471-0528.1996.tb09520.x
Rosati P, Guariglia L. Transvaginal sonographic assessment of the fetal urinary tract in early pregnancy. Ultrasound Obstet Gynecol 1996;7(2):95–100. DOI: 10.1046/j.1469-0705.1996.07020095.x
Bronshtein M, Amit A, Achiron R, et al. The early prenatal sonographic diagnosis of renal agenesis: techniques and possible pitfalls. Prenat Diagn 1994;14(4):291–297. DOI: 10.1002/pd.1970140409
Bronshtein M, Bar-Hava I, Blumenfeld Z. Clues and pitfalls in the early prenatal diagnosis of ‘late onset’ infantile polycystic kidney. Prenat Diagn 1992;12(4):293–298. DOI: 10.1002/pd.1970120409
Sebire NJ, von Kaisenberg C, Rubio C, et al. Fetal megacystis at 10-14 weeks of gestation. Ultrasound Obstet Gynecol 1996;8(6):387–390. DOI: 10.1046/j.1469-0705.1997.08060387.x
Jouannic JM, Hyett JA, Pandya PP, et al. Perinatal outcome in fetuses with megacystis in the first half of pregnancy. Prenat Diagn 2003;23(4):340–344. DOI: 10.1002/pd.593
Moerman P, Fryns JP, Goddeeris P, et al. Pathogenesis of the prune-belly syndrome: a functional urethral obstruction caused by prostatic hypoplasia. Pediatrics 1984;73(4):470–475. PMID: 6231520.
Timor-Tritsch IE, Monteagudo A, Peisner DB. High-frequency transvaginal sonographic examination for the potential malformation assessment of the 9-week to 14-week fetus. J Clin Ultrasound 1992;20(4):231–238. DOI: 10.1002/jcu.1870200403
Rice KJ, Ballas J, Lai E, et al. Diagnosis of fetal limb abnormalities before 15 weeks: cause for concern. J Ultrasound Med 2011;30(7):1009–1019. DOI: 10.7863/jum.2011.30.7.1009
Bronshtein M, Keret D, Deutsch M, et al. Transvaginal sonographic detection of skeletal anomalies in the first and early second trimester. Prenat Diagn 1993;13(7):597–601. DOI: 10.1002/pd.1970130710
Van Keirsbilck J, Cannie M, Robrechts C, et al. First trimester diagnosis of sirenomelia. Prenat Diagn 2006;26(8):684–688. DOI: 10.1002/pd.1479
Singh C, Lodha P, Arora D, et al. Diagnosis of sirenomelia in the first trimester. J Clin Ultrasound 2014;42(6):335–339. DOI: 10.1002/jcu.22116
Thummala MR, Raju TN, Langenberg P. Isolated single umbilical artery anomaly and the risk for congenital malformations: a meta-analysis. J Pediatr Surg 1998;33(4):580–585. DOI: 10.1016/s0022-3468(98)90320-7
Chow JS, Benson CB, Doubilet PM. Frequency and nature of structural anomalies in fetuses with single umbilical arteries. J Ultrasound Med 1998;17(12):765–768. DOI: 10.7863/jum.1998.17.12.765
Rinehart BK, Terrone DA, Taylor CW, et al. Single umbilical artery is associated with an increased incidence of structural and chromosomal anomalies and growth restriction. Am J Perinatol 2000;17(5):229–232. DOI: 10.1055/s-2000-10002
Rembouskos G, Cicero S, Longo D, et al. Single umbilical artery at 11-14 weeks’ gestation: relation to chromosomal defects. Ultrasound Obstet Gynecol 2003;22(6):567–570. DOI: 10.1002/uog.901
Dagklis T, Defigueiredo D, Staboulidou I, et al. Isolated single umbilical artery and fetal karyotype. Ultrasound Obstet Gynecol 2010;36(3):291–295. DOI: 10.1002/uog.7717
Voskamp BJ, Fleurke-Rozema H, Oude-Rengerink K, et al. Relationship of isolated single umbilical artery to fetal growth, aneuploidy and perinatal mortality: systematic review and meta-analysis. Ultrasound Obstet Gynecol 2013;42(6):622–628. DOI: 10.1002/uog.12541
Martínez-Payo C, Cabezas E, Nieto Y, et al. Detection of single umbilical artery in the first trimester ultrasound: its value as a marker of fetal malformation. Biomed Res Int 2014;2014:548729. DOI: 10.1155/2014/548729
Blazer S, Sujov P, Escholi Z, et al. Single umbilical artery—right or left? Does it matter? Prenat Diagn 1997;17(1):5–8. DOI: 10.1002/(sici)1097-0223(199701)17:1<5::aid-pd999>3.0.co;2-4