Testing for 22q11 microdeletion in 146 fetuses with nuchal translucency above the 99th percentile and a normal karyotype

LAUTRUP, CHARLOTTE KVIST
KJAERGAARD, SUSANNE
BRØNDUM-NIELSEN, KAREN
FAGERBERG, CHRISTINA
HERTZ, JENS MICHAEL
PETERSEN, OLAV BENNIKKE BJØRN
JØRGENSEN, METTE WARMING
VOGEL, IDA

¹Department of Clinical Genetics, Aarhus University Hospital, 8000, Aarhus, Denmark
²Department of Clinical Genetics, Rigshospitalet – Copenhagen University Hospital, 2100, Copenhagen, Denmark
³Department of Clinical Genetics, The Kennedy Center, 2600, Glostrup, Denmark
⁴Department of Clinical Genetics, Vejle Sygehus, 7100, Vejle, Denmark
⁵Department of Gynecology and Obstetrics, Aarhus University Hospital Skejby, 8200, Aarhus N, Denmark
⁶Department of Clinical Genetics, Odense University Hospital, 5000, Odense, Denmark

Correspondence to: Ida Vogel, Department of Clinical Genetics, The Bartolin Building, University of Aarhus, DK-8000, Aarhus, Denmark. E-mail: [email protected]

(Received 25 June 2008; accepted 16 September 2008)

Acta Obstetricia et Gynecologica Scandinavica 87(11):p 1252-1255, November 2008. | DOI: 10.1080/00016340802482994

The aim of this study was to examine the value of testing for a 22q11 microdeletion in fetuses with nuchal translucency (NT) above the 99th percentile (>3.5 mm). A 22q11 microdeletion results in the development of 22q11 deletion syndrome, a spectrum of disorders also known as DiGeorge/Velocardiofacial syndrome. A total of 146 pregnancies met the inclusion criteria of NT >3.5 mm between 11+2 and 13+6 weeks’ gestation, no structural malformation and normal karyotype. Chorionic villi samples were tested with either multiplex ligation-dependent probe amplification (MLPA) or fluorescent in situ hybridization (FISH) analysis for 22q11 microdeletion. None were diagnosed with the microdeletion. The estimated prevalence of 22q11 microdeletion in these otherwise normal fetuses with increased NT is below 2.7%.