Hydrops fetalis, thickened placenta and other sonographic findings in a low-level trisomy 21 mosaicism: A case report

Fetal Diagnosis and Therapy

Volumn 24, Issue 3, 2008, Pages 310-312

  Sifakis, S ^a,c   Koukoura, O ^a   Mantas, N ^a   Velissariou, V ^b   Koumantakis, E ^a  

^a UNIVERSITY HOSPITAL OF HERAKLION   (Greece)

^b MITERA HOSPITAL   (Greece)

^c NONE   (Greece)

Author keywords

Down syndrome; Hydrops fetalis; Intrauterine growth retardation; Thickened placenta; Trisomy 21 mosaicism

Indexed keywords

ADULT; AMNIOCENTESIS; ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; FEMALE; FETUS ECHOGRAPHY; FETUS HYDROPS; GENETIC COUNSELING; GESTATIONAL AGE; HUMAN; INTRAUTERINE GROWTH RETARDATION; LABORATORY TEST; LUNG HYPOPLASIA; MOSAICISM; OLIGOHYDRAMNIOS; PRIORITY JOURNAL; TRISOMY 21; ULTRASOUND;

ADULT; AMNIOCENTESIS; DOWN SYNDROME; FEMALE; FETAL GROWTH RETARDATION; GENETIC COUNSELING; HUMANS; HYDROPS FETALIS; LUNG DISEASES; MOSAICISM; OLIGOHYDRAMNIOS; PLACENTA DISEASES; PREGNANCY; ULTRASONOGRAPHY, PRENATAL;

EID: 52849114345     PISSN: 10153837     EISSN: None     Source Type: Journal    
DOI: 10.1159/000160218     Document Type: Article

References (15)

1. Hsu LY, Yu MT, Richkind KE, Van Dyke DL, Crandall BF, Saxe DF, et al: Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: a collaborative study. Prenat Diagn 1996;16:1-28.
2. Niikawa N, Kajii T: The origin of mosaic Down syndrome: four cases with chromosome markers. Am J Hum Genet 1984;36:123-130.
3. Morris JK, Wald NJ, Watt HC: Fetal loss in Down syndrome pregnancies. Prenat Diagn 1999;19:142-145.
4. Hsu LYF, Kaffe S, Jenkins EC, Alonso L, Benn PA, David K, et al: Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies. Prenat Diagn 1992;12:555-573.
5. Ilagan NB, Liang KC, Delaney Black V, Perrin E: Hydrops fetalis polyhydramnios, pulmonary hypoplasia and Down syndrome. Am J Perinatol 1992;9:9-10.
6. Puddy V, Lam BC, Tang M, Wong KY, Lam YH, Wong K, et al: Variable levels of mosaicism for trisomy 21 in a non-immune hydropic infant with chylothorax. Prenat Diagn 1999;19:764-766.
7. Astner A, Schwinger E, Caliebe A, Jonat W, Gembruck U: Sonographically detected fetal and placental abnormalities associated with trisomy 16 confined to the placenta. A case report and review of the literature. Prenat Diagn 1998;18:1308-1315.
8. Harper MA, Ruiz C, Pettenati MJ, Rao PN: Triploid partial molar pregnancy detected through maternal serum alpha-fetoprotein and HCG screening. Obstet Gynecol 1994;83:844-846.
9. Qureshi F, Jacques SM, Johnson MP, Hume RF, Kramer RL, Yaron Y, et al: Trisomy 21 placentas: histopathological and immunohistochemical findings using proliferating cell nuclear antigen. Fetal Diagn Ther 1997;12:210-215.
10. Massin N, Frendo JL, Guibourdenche J, Luton D, Giovanandi Y, Muller F, et al: Defect of syncytiotrophoblast formation and human chorionic gonadotropin expression in Down's syndrome. Placenta 2001;22(suppl A):S93-S97.
11. Wegrzyn P, Faro C, Falcon O, Peralta CF, Nicolaides KH: Placental volume measured by three-dimensional ultrasound at 11 to 13 + 6 weeks of gestation: relation to chromosomal defects. Ultrasound Obstet Gynecol 2005;26:28-32.
12. Jauniaux E, Gavrill P, Khun P, Kurdi W, Hyett J, Nicolaides KH: Fetal heart rate and umbilico-placental Doppler flow velocity waveforms in early pregnancies with a chromosomal abnormality and/or an increased nuchal translucency thickness. Hum Reprod 1996;11:435-439.
13. Wallerstein R, Yu MT, Neu RL, Benn P, Lee Bowen C, Crandall B, et al: Common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13, 18, 20 and 21: karyotype-phenotype correlations. Prenat Diagn 2000;20:103-122.
14. Hsu LY, Yu MT, Neu RL, Van Dyke DL, Benn PA, Bradshaw CL, et al: Rare trisomy mosaicism diagnosed in amniocytes, involving an autosome other than chromosomes 13, 18, 20, and 21: karyotype/phenotype correlations. Prenat Diagn 1997;17:201-242.
15. Brisset S, Aboura A, Audibert F, Costa JM, L'Hermine AC, Gautier V, et al: Discordant prenatal diagnosis of trisomy 21 due to mosaic structural rearrangements of chromosome 21. Prenat Diagn 2003;23:461-469.