Fetal anomaly or syndrome

References

Central nervous system defect

Anencephaly                                                                                 1,2

Craniosynostosis                                                                            1

Dandy-Walker malformation                                                      1,3

Diastematomyelia                                                                           4

Encephalocele                                                                                1

Holoprosencephaly                                                                   1,5,6

Hydrolethalus syndrome                                                              7

Joubert syndrome                                                                          8

Microcephaly                                                                                  4

Macrocephaly                                                                                2

Spina bifida                                                                                  1,2

Iniencephaly                                                                                  9

Trigonocephaly C                                                                         4

Ventriculomegaly                                                                       1,5

 

Face and Mandible

Agnathia/micrognathia                                                             1,3

Facial cleft                                                                                  1,11

Microphthalmia                                                                            4

Treacher-Collins syndrome                                                       1

 

Neck

Cystic hygroma                                                                         1,12

Neck lipoma                                                                                 1

Cardiac

Cardiac defect                                                                       2,3,5,6,9,

                                                                                           10,11,14,15,17

                                                                                             19,20,21,22,

                                                                                                24,25,46

 

Di George syndrome                                                                26

 

Pulmonary System

Cystic adenomatoid malformation                                          1

Diaphragmatic hernia                                                        1,5,11,18,27

Fryn syndrome                                                                       1,28,29

 

Abdominal Wall Defect

Cloacal exstrophy                                                                     1

Omphalocele                                                                      1,2,5,9,10,

11,30,31

 

Gastroschisis                                                                            1

Gastrointestinal Tract

Crohn’s disease                                                                      1

Duodenal atresia                                                                 1,18

Esophageal atresia                                                             3,32

Small bowel obstruction                                                      1

 

Genital Tract

Ambiguous genitalia                                                            1

Hypospadias                                                                          1

Genitourinary Tract

Genitourinary Tract

Congenital nephrotic syndrome                                        1

Hydronephrosis                                                                    1

Infantile polycystic kidneys                                                1

Meckel-Gruber syndrome                                                1,18

Megacystis                                                                   1,5,18,23,33,

34,35,36,37

Multicystic dysplastic kidneys                                  1,5,9,10,18,33

Renal agenesis                                                                 1,5

Skeletal System

 

Achondrogenesis                                                         38,39,40,41

Achondroplasia                                                                   19

Asphyxiating thoracic dystrophy                                      42

Blomstrand osteochondrodysplasia                                43

Campomelic dwarfism                                                       44

Jarcho-Levin syndrome                                                  1,45

Kyphoscoliosis                                                                     1

Limb reduction defect                                                      1,35

La Ronge syndrome                                                          46

Nance-Sweeny syndrome                                                 1

Osteogenesis imperfecta                                               1,47

Roberts syndrome                                                              48

Short rib polydactyly                                                           49

Sirenomelia                                                                         50

Talipes equinovarus                                                         1,2

Thanatophoric dysplasia                                                    1

VATER association                                                            51

Fetal Anemia

 

Blackfan-Diamond anemia                                               1

Dyserythropeitic anemia                                                    1

Fanconi anemia                                                         52,53,54,55.

Alpha thalassemia                                                            56

 

Neuromuscular Disorders

Fetal akinesia deformation sequence                  1,5,10,11,57

Myotonic dystrophy                                                           3

Spinal muscular atrophy                                        1,3,18,58,59

 

Metabolic Defect

Beckwith-Wiedermann syndrome                                   1

GM1 gangliosidosis                                                            3

Long chain 3-hydroxyacyl-coenzyme a

                      dehydrogenase deficiency                        60

Mucopolysaccharidosis type VII                                      61

Smith-Lemli-Opitz syndrome                                 1,5,62,63,64,65

Vitamin D resistant rickets                                               66

Zellwegers syndrome                                                   3,67,68

 

Other Defects

Body stalk anomaly                                                       1,5,69

Brachmann-de Lange syndrome                                  70

CHARGE association                                                       5

Deficiency of immune system                                        1

Congenital lymphedema                                                 1

EEC syndrome                                                                   3

Neonatal myoclonic encephalopathy                            1

Noonan syndrome                                                     1,2,3,8,33,

                                                                                         34,35,71

Perlman syndrome                                                           72

Stickler syndrome                                                               5

Unspecified syndrome                                                   1,10

Severe developmental delay                                        1,2,18

 

 

 

 

 

REFERENCES

 

 

  1. Souka AP, Krampl E, Bakalis V, Nicolaides KH. Outcome of pregnancy in normal fetuses with incrased nuchal translucency in the first trimester. Ultrasound Obstet Gynecol 2001;18:9-17.
  2. Adekunle O, Gopee A, El-Sayed M, Thilaganathan B. Increased first- trimester nuchal translucency: pregnancy and infant outcomes after  routine screening for Down syndrome in an     unselected antenatal population. Br J Radiol 1999; 72: 457-560
  3. Bilardo CM, Pajkrt E, de Graaf IM, Mol BWJ, Bleker OP. Outcome of fetuses with enlarged nuchal translucency and normal karyotype. Ultrasound Obstet Gynecol 1998; 11: 401-406
  4. Souka AP, Snijders RJM, Novakov A, Soares W, Nicolaides KH. Defects and syndromes in chromosomally normal fetuses with increased nuchal translucency at 10-14 weeks of gestation. Ultrasound Obstet  Gynecol 1998; 11: 391-400
  5. Pandya PP, Kondylios A, Hilbert L, Snijders RJM, Nicolaides KH. Chromosomal defects and outcome in 1015 fetuses with increased  nuchal translucency. Ultrasound Obstet Gynecol 1995; 5: 15-19
  6. Salvesen DR, Goble O. Early amniocentesis and fetal nuchal trans- lucency in women requesting karyotyping for advanced maternal age. Prenat Diagn 1995; 15: 971-974
  7. Ammala P, Salonen R. First-trimester diagnosis of hydrolethalus syndrome. Ultrasound Obstet Gynecol 1995; 5: 60-62
  8. Reynders CS, Pauker SP, Benacerraf BR. First trimester isolated fetal nuchal lucency: significance and outcome. J Ultrasound Med 1997;16: 101-105
  9. Cha’ban FK, van Splunder P, Los FJ, Wladimiroff JW. Fetal outcome in nuchal translucency with emphasis on normal fetal karyotype. Prenat Diagn 1996; 16: 537-541
  10. Ville Y, Lalondrelle C, Doumerc S, Daffos F, Frydman R, Oury JF, Dumez Y. First-trimester diagnosis of nuchal anomalies: significance and fetal outcome. Ultrasound Obstet Gynecol 1992; 2: 314-316
  11. Nadel A, Bromley B, Benacerraf BR. Nuchal thickening or cystic hygromas in first- and early second-trimester fetuses: prognosis and outcome. Obstet Gynecol 1993; 82: 43-48
  12. Shulman LP, Emerson DS, Grevengood C, Felker RE, Gross SJ, Phillips OP, Elias S. Clinical course and outcome of fetuses with isolated cystic nuchal lesions and normal karyotypes detected in the first trimester. Am J Obstet Gynecol 1994; 171: 1278-1281
  13. Bronshtein M, Siegler E, Yoffe N, Zimmer EZ. Prenatal diagnosis of ventricular septal defect and overriding aorta at 14 weeks of gestation, using transvaginal sonography. Prenat Diagn 1990; 10:797-702
  14. Gembruch U, Knopfle G, Chatterjee M, Bald R, Hansmann M. First-trimester diagnosis of fetal congenital heart disease by trans-vaginal two-dimensional and Doppler echocardiography. Obstet  Gynecol 1990; 75: 496-498
  15. Gembruch U, Knopfle G, Bald R, Hansmann M. Early diagnosis of congenital heart disease by transvaginal sonography. Ultrasound  Obstet Gynecol 1993; 3: 310-317
  16. Achiron R, Rotstein Z, Lipitz S, Mashiach S, Hegesh J. First-trimester diagnosis of fetal congenital heart disease by transvaginal sonography. Obstet Gynecol 1994; 84: 69-72
  17. Hafner E, Schuchter K, Liebhart E, Philipp K. Results of routine fetal nuchal translucency measurements at 10-13 weeks in 4233 unselected pregnant women. Prenat Diagn 1998; 18: 29-34
  18. van Vugt JMG, Tinnemans TWS, van Zalen-Sprock RM. Outcome and early childhood follow-up of chromosomally normal fetuses with increased nuchal translucency at 10-14 weeks of gestation. Ultrasound Obstet Gynecol 1998; 11: 407-409
  19. Fukada Y, Yasumizu T, Takizawa M, Amemiya A, Hoshi K. The prognosis of fetuses with transient nuchal translucency in the first and early second trimester. Acta Obstet Gynecol Scand 1998; 76:913-916
  20. Zosmer N, Souter VL, Chan CSY, Huggon IC, Nicolaides KH. Early diagnosis of major cardiac defects in chromosomally normal fetuses with increased nuchal translucency. Br J Obstet Gynaecol 1999;106: 829-833
  21. Schwarzler P, Carvalho JS, Senat MV, Masroor T, Campbell S, Ville Y. Screening for fetal aneuploidies and fetal cardiac abnormalities by nuchal translucency thickness measurement at 10-14 weeks of gestation as part of routine antenatal care in an unselected population.  Br J Obstet Gynaecol 1999; 106: 1029-1034
  22. Chaoui R, Machlitt A, Tennstedt C. Prenatal diagnosis of ventricocoronary fistula in a late first trimester fetus presenting with increased nuchal translucency. Ultrasound Obstet Gynecol 2000;15: 160-162
  23. Maymon R, Jauniaux E, Cohen O, Dreazen E, Weinraub Z, Herman A. Pregnancy outcome and infant follow-up of fetuses with abnormally increased first trimester nuchal translucency. Hum Reprod 2000; 15: 2023-2027
  24. Michailidis GD, Economides DL. Nuchal translucency measurement and pregnancy outcome in karyotypically normal fetuses. Ultrasound  Obstet Gynecol 2001; 17: 102-105
  25. Mavrides E, Cobian-Sanchez F, Tekay A, Moscoso G, Campbell S, Thilaganathan B, Carvalho JS. Limitations of using first-trimester nuchal translucency measurement in routine screening for major congenital heart defects. Ultrasound Obstet Gynecol 2001; 17:106-110
  26. Lazanakis MS, Rodgers K, Economides DL. Increased nuchal translucency and CATCH 22. Prenat Diagn 1998; 18: 507-510
  27. Sebire NJ, Snijders RJM, Davenport M, Greenough A, Nicolaides KH. Fetal nuchal translucency thickness at 10-14 weeks of gestation and congenital diaphragmatic hernia. Obstet Gynecol 1997; 90:943-947
  28. Bulas D, Saal H, Allen JF, Kapur S, Nies BM, Newman K. Cystic hygroma and congenital diaphragmatic hernia: early prenatal sonographic evaluation of Fryn’s syndrome. Prenat Diagn 1992; 12: 867-875
  29. Hosli IM, Tercanli S, Rehder H, Holzgreve W. Cystic hygroma as an early first-trimester ultrasound marker for recurrent Fryns’ syndrome. Ultrasound Obstet Gynecol 1997; 10: 422-424
  30. Snijders RJM, Sebire NJ, Souka A, Santiago C, Nicolaides KH. Fetal exomphalos and chromosomal defects: relationship to maternal age and gestation. Ultrasound Obstet Gynecol 1995; 6: 250-255
  31. van Zalen-Sprock RM, van Vugt JMG, van Geijn HP. First-trimester sonography of physiological midgut herniation and early diagnosis of omphalocele. Prenat Diagn 1997; 17: 511-518
  32. Brown RN, Nicolaides KH. Increased fetal nuchal translucency: possible association with esophageal atresia. Ultrasound Obstet   Gynecol 2000; 15: 531-532
  33. van Zalen-Sprock MM, van Vugt JMG, van Geijn HP. First-trimester diagnosis of cystic hygroma: course and outcome. Am J Obstet  Gynecol 1992; 167: 94-98
  34. Johnson MP, Johnson A, Holzgreve W, Isada NB, Wapner RJ, Treadwell MC, Heeger S, Evans M. First-trimester simple cystic hygroma: cause and outcome. Am J Obstet Gynecol 1993; 168:156-161
  35. Trauffer ML, Anderson CE, Johnson A, Heeger S, Morgan P, Wapner RJ. The natural history of euploid pregnancies with first- trimester cystic hygromas. Am J Obstet Gynecol 1994; 170:1279-1284
  36. Sebire NJ, von Kaisenberg C, Rubio C, Snijders RJM, Nicolaides KH.  Fetal megacystis at 10-14 weeks of gestation. Ultrasound Obstet Gynecol 1996; 8: 387-390
  37. Favre R, Kohler B, GasSeries B, Muller F, Nisand I. Early fetal megacystis between 11 and 15 weeks of gestation. Ultrasound  Obstet Gynecol 1999; 14: 402-406
  38. Fisk NM, Vaughan J, Smidt M, Wigglesworth J. Transvaginal ultrasound recognition of nuchal oedema in the first-trimester diagnosis of achondrogenesis. J Clin Ultrasound 1991; 19: 586-590
  39. Hewitt B. Nuchal translucency in the first trimester. Aust NZ J  Obstet Gynecol 1993; 33: 389-391
  40. Soothill PW, Vuthiwong C, Rees H. Achondrogenesis type 2 diagnosed by transvaginal ultrasound at 12 weeks of gestation. Prenat  Diagn 1993; 13: 523-528
  41. Meizner I, Barnhard Y. Achondrogenesis type I diagnosed by transvaginal ultrasonography at 13 weeks of gestation. Am J Obstet  Gynecol 1995; 173: 1620-1622
  42. Ben Ami M, Perlitz Y, Haddad S, Matilsky M. Increased nuchal translucency is associated with asphyxiating thoracic dysplasia. Ultrasound Obstet Gynecol 1997; 10: 297-298
  43. den Hollander NS, van der Harten HJ, Vermeij-Keers C, Niermeijer MF, Wladimiroff JW. First trimester diagnosis of Blomstrand lethal osteochondrodysplasia. Am J Med Genet 1997; 73: 345-350
  44. Hafner E, Schuchter K, Philipp K. Screening for chromosomal abnormalities in an unselected population by fetal nuchal translucency. Ultrasound Obstet Gynecol 1995; 6: 330-333
  45. Eliyahu S, Weiner E, Lahav D, Shalev E. Early sonographic diagnosis of JarchoÐLevin syndrome: a prospective screening program in one family. Ultrasound Obstet Gynecol 1997; 9: 314-318
  46. Suchet IB, Tam WH. In: The Ultrasound of Life. First Edition. CD-ROM. MTMI  Publishers, Milwaukee, Wisconsin.
  47. Makrydimas G, Souka A, Skentou H, Lolis D, Nicolaides KH. Osteogenesis imperfecta and other skeletal dysplasias presenting with increased nuchal translucency in the first trimester. Am J Med  Genet 2001; 98: 117-120
  48. Petrikovsky BM, Gross B, Bialer M, Solamanzadeh K, Simhaee E. Prenatal diagnosis of pseudothalidomide syndrome in consecutive  pregnancies of a consanguineous couple. Ultrasound Obstet Gynecol  1997; 10: 425-428
  49. Hill LM, Leary J. Transvaginal sonographic diagnosis of short-rib polydactyly dysplasia at 13 weeks of gestation. Prenat Diagn 1998; 18: 198-201
  50. Fukada Y, Yasumizu T, Tsurugi Y, Ohta S, Hoshi K. Caudal regression syndrome detected in a fetus with increased nuchal translucency.  Acta Obstet Gynecol Scand 1999; 78: 655-656
  51. Adekunle O, Gopee A, El-Sayed M, Thilaganathan B. Increased first trimester nuchal translucency: pregnancy and infant outcomes after routine screening for Down’s syndrome in an unselected antenatal population. Br J Radiol 1999; 72: 457-460
  52. Tercanli S, Miny P, Siebert MS, Hosli I, Surbek DV, Holzgreve W.  Fanconi anemia associated with increased nuchal translucency detected by first-trimester ultrasound. Ultrasound Obstet Gynecol  2001; 17: 160-162
  53. Petrikovsky BM, Baker D, Schneider E. Fetal hydrops secondary to human parvovirus infection in early pregnancy. Prenat Diagn 1996; 16: 342-344
  54. Smulian JC, Egan JF, Rodis JF. Fetal hydrops in the first trimester associated with maternal parvovirus infection. J Clin Ultrasound  1998; 26: 314-316
  55. Markenson G, Correia LA, Cohn G, Bayer L, Kanaan C. Parvoviral infection associated with increased nuchal translucency: a case report. J Perinatol 2000; 20: 129-131
  56. Lam YH, Tang MH, Lee CP, Tse HY. Nuchal translucency in fetuses affected by homozygous. a-thalassemia-1 at 12-13 weeks of gestation. Ultrasound Obstet Gynecol 1999; 13: 238-240
  57. Hyett J, Noble P, Sebire NJ, Snijders RJM, Nicolaides KH. Lethal congenital arthrogryposis presents with increased nuchal translucency at 10-14 weeks of gestation. Ultrasound Obstet Gynecol  1997; 9: 310-313
  58. Rijhsinghani A, Yankowitz J, Howser D, Williamson R. Sonographic and maternal serum screening abnormalities in fetuses affected by spinal muscular atrophy. Prenat Diagn 1997; 17: 166-169
  59. Stiller RJ, Lieberson D, Herzlinger R, Siddiqui D, Laifer SA, Whetham JCG. The association of increased fetal nuchal translucency and spinal muscular atrophy type I. Prenat Diagn 1999; 19:587-589
  60. Tercanli S, Uyanik G, Cagdas A, Holzgreve W. Increased nuchal translucency in a case of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. Fetal Diagn Ther 2000; 15: 322-325
  61. van Eyndhoven HWF, Ter Brugge HG, van Essen AJ, Kleijer WJ. b  glucuronidase deficiency as cause of recurrent hydrops fetalis: the first early prenatal diagnosis by chorionic villus sampling. Prenat  Diagn 1998; 18: 959-962
  62. Hobbins JC, Jones OW, Gottesfeld S, Persutte W. Transvaginal sonography and transabdominal embryoscopy in the first-trimester diagnosis of Smith-Lemli-Opitz syndrome, type 2. Am J Obstet Gynecol 1994; 171: 546-549
  63. Hyett JA, Clayton PT, Moscoso G, Nicolaides KH. Increased first trimester nuchal translucency as a prenatal manifestation of Smith- Lemli-Opitz syndrome. Am J Med Genet 1995; 58: 374-376
  64. Sharp P, Haant E, Fletcher JM, Khong TY, Carey WF. First-trimester diagnosis of Smith-Lemli-Opitz syndrome. Prenat Diagn 1997; 17:355-361
  65. Maymon R, Ogle RF, Chitty LS. Smith-Lemli-Opitz syndrome  presenting with persisting nuchal oedema and non-immune hydrops. Prenat Diagn 1999; 19: 105-107
  66. Brady AF, Pandya PP, Yuksel B, Greenough A, Patton M, Nicolaides KH. Outcome of chromosomally normal livebirths with increased fetal nuchal translucency at 10-14 weeksÕ gestation. J Med Genet 1998;35: 222-224
  67. de Graaf IM, Pajkrt E, Keessen M, Leschot NJ, Bilardo CM. Enlarged nuchal translucency and low serum protein concentration as possible markers for Zellweger syndrome. Ultrasound Obstet Gynecol 1999;13: 268-370
  68. Christiaens GCML, de Pater JM, Stoutenbeek P, Drogtrop A, Wanders RJA, Beemer FA. First trimester nuchal anomalies as a prenatal sign of Zellweger syndrome. Prenat Diagn 2000; 20: 520-521
  69. Daskalakis G, Sebire NJ, Jurkovic D, Snijders RJM, Nicolaides KH.  Body stalk anomaly at 10-14 weeks of gestation. Ultrasound Obstet  Gynecol 1997; 10: 416-418
  70. Sekimoto H, Osada H, Kimura H, Kamiyama M, Arai K, Sekiya S.  Prenatal findings in Brachmann-de Lange syndrome. Arch Gynecol  Obstet 2000; 263: 182-184
  71. Achiron R, Heggesh J, Grisaru D, Goldman B, Lipitz S, Yagel S,  Frydman M. Noonan syndrome: a cryptic condition in early gestation.  Am J Med Genet 2000; 92: 159-165
  72. van der Stege A, van Eyck J, Arabin B. Prenatal ultrasound observation in subsequent pregnancies with Perlman syndrome. Ultrasound  Obstet Gynecol 1998; 11: 149-151
  73. Souka AP, Nicolaides KH. Diagnosis of fetal abnormalities at the 10-14 week scan. Ultrasound Obstet Gynecol 1997; 10: 429-442
  74. Nicolaides KH, Azar G, Snijders RJM, Gosden CM. Fetal nuchal oedema: associated malformations and chromosomal defects. Fetal  Diagn Ther 1992; 7: 123-131
  75. Sebire NJ, Bianco D, Snidjers RJM, Zuckerman M, Nicolaides KH.  Increased fetal nuchal translucency thickness at 10-14 weeks: is screening for maternal-fetal infection necessary? Br J Obstet Gynaecol  997; 104: 212-215