Cystic hygroma detected in the first trimester scan in Hong Kong

Abstract Objective: To investigate the outcome of fetuses with cystic hygroma (CH) diagnosed at the first trimester from a general population in Hong Kong. Method: This was a prospective study of 30 fetal cystic hygroma detected at 11 to 13 + 6 weeks’ gestation in 8835 sequential unselected pregnancies. Fetal cystic hygroma was categorized as isolated cystic hygroma (ICH) or associated cystic hygroma (ACH) according to the presence of associated multiple congenital structural abnormalities (MCA). Results: There were 10 cases of ICH and 20 cases of ACH. The karyotypes were obtained in 29 cases. In the ICH, 30% (3/10) were associated with chromosomal abnormalities. In the ACH, 65% (13/20) were associated with major chromosomal abnormalities. Conclusion: This study suggests that the prognosis of cystic hygroma detected in the first trimester is guarded, with high incidence of MCA (66.7%, 20/30) and chromosomal abnormalities (53.3%, 16/30). The findings support detailed ultrasound examination and invasive prenatal diagnosis for cystic hygroma.

[1]  R. Rava,et al.  Massively Parallel Sequencing of Maternal Plasma DNA in 113 Cases of Fetal Nuchal Cystic Hygroma , 2013, Obstetrics and gynecology.

[2]  S. Craigo,et al.  First-Trimester Cystic Hygroma: Relationship of Nuchal Translucency Thickness and Outcomes , 2012, Obstetrics and gynecology.

[3]  L. Shaffer,et al.  Diagnostic utility of array‐based comparative genomic hybridization (aCGH) in a prenatal setting , 2010, Prenatal diagnosis.

[4]  A. Akyol,et al.  Multidisciplinary approach in cystic hygroma: Prenatal diagnosis, outcome, and postnatal follow up , 2009, Pediatrics international : official journal of the Japan Pediatric Society.

[5]  Z. Papp,et al.  Incidence of Chromosomal Abnormalities in the Presence of Fetal Subcutaneous Oedema, Such as Nuchal Oedema, Cystic Hygroma and Non-Immune Hydrops , 2009, Fetal Diagnosis and Therapy.

[6]  F. Ozkinay,et al.  Prenatally Diagnosed Turner Syndrome and Cystic Hygroma: Incidence and Reasons for Referrals , 2008, Fetal Diagnosis and Therapy.

[7]  D. Gaillard,et al.  Characteristics and outcome of fetal cystic hygroma diagnosed in the first trimester , 2007, Acta obstetricia et gynecologica Scandinavica.

[8]  F. Prefumo,et al.  P27.14: Fetal cystic hygroma and mid‐trimester maternal serum screening , 2007, Journal of medical screening.

[9]  Y. Ville,et al.  Karyotype and outcome of fetuses diagnosed with cystic hygroma in the first trimester in relation to nuchal translucency thickness , 2006, Prenatal diagnosis.

[10]  K. Kagan,et al.  Cystic Hygromas, Nuchal Edema, and Nuchal Translucency at 11–14 Weeks of Gestation , 2006, Obstetrics and gynecology.

[11]  D. Chitayat,et al.  Ultrasound detection of fetal anomalies in conjunction with first-trimester nuchal translucency screening: a feasibility study. , 2005, American journal of obstetrics and gynecology.

[12]  K. Nicolaides,et al.  First-trimester screening for chromosomal abnormalities. , 2005, Seminars in perinatology.

[13]  F. Malone,et al.  First-Trimester Septated Cystic Hygroma: Prevalence, Natural History, and Pediatric Outcome , 2005, Obstetrics and gynecology.

[14]  E. Draper,et al.  Population‐based study of the outcome following the prenatal diagnosis of cystic hygroma , 2005, Prenatal diagnosis.

[15]  H. A. Tanriverdi,et al.  Outcome of cystic hygroma in fetuses with normal karyotypes depends on associated findings. , 2005, European journal of obstetrics, gynecology, and reproductive biology.

[16]  B. Thilaganathan,et al.  Natural history and outcome of prenatally diagnosed cystic hygroma , 2004, Prenatal diagnosis.

[17]  P. Rosati,et al.  Transvaginal ultrasound detection of septated and non-septated cystic hygroma in early pregnancy. , 1997, Fetal diagnosis and therapy.

[18]  R. Wapner,et al.  The natural history of euploid pregnancies with first-trimester cystic hygromas. , 1994, American journal of obstetrics and gynecology.

[19]  B. Bromley.  Nuchal Thickening or Cystic Hygromas in First-And Early Second-Trimester Fetuses: Prognosis and Outcome , 1993, Obstetrics and gynecology.

[20]  Z. Blumenfeld,et al.  The difference between septated and nonseptated nuchal cystic hygroma in the early second trimester. , 1993, Obstetrics and gynecology.

[21]  V. Ng,et al.  Fetal cystic hygromas: further insights into their natural history. , 1992 .

[22]  R. Frydman,et al.  First‐trimester diagnosis of nuchal anomalies: significance and fetal outcome , 1992, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[23]  L. Shulman,et al.  High Frequency of Cytogenetic Abnormalities in Fetuses With Cystic Hygroma Diagnosed in the First Trimester , 1992, Obstetrics and gynecology.

[24]  K. Nicolaides,et al.  Fetal nuchal translucency: ultrasound screening for chromosomal defects in first trimester of pregnancy. , 1992, BMJ.

[25]  A. Macleod,et al.  Prenatal diagnosis of nuchal cystic hygroma. , 1991, The British journal of radiology.

[26]  M. Cullen,et al.  Diagnosis and significance of cystic hygroma in the first trimester , 1990, Prenatal diagnosis.

[27]  R. Frydman,et al.  Chorionic villus sampling after first trimester diagnosis of fetal cystic hygroma colli. , 1989, European journal of obstetrics, gynecology, and reproductive biology.

[28]  F. Frigoletto,et al.  Prenatal sonographic diagnosis of isolated congenital cystic hygroma, unassociated with lymphedema or other morphologic abnormality. , 1987, Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine.

[29]  R. Berkowitz,et al.  Fetal cystic hygroma. Cause and natural history. , 1983, The New England journal of medicine.

[30]  A. Toutain,et al.  Etiology, prognosis and management of nuchal cystic hygroma: 25 new cases and literature review. , 1997, European journal of obstetrics, gynecology, and reproductive biology.

[31]  W. Holzgreve,et al.  First-trimester simple hygroma: cause and outcome. , 1993, American journal of obstetrics and gynecology.

[32]  H. Geijn,et al.  First-trimester diagnosis of cystic hygroma--course and outcome. , 1992, American journal of obstetrics and gynecology.

[33]  N. van der Westhuizen,et al.  Fetal cystic hygromas: further insights into their natural history. , 1992, Canadian Association of Radiologists journal = Journal l'Association canadienne des radiologistes.