Use of amniocytes for prenatal diagnosis of 22q11.2 microdeletion syndrome: a feasibility study.
BACKGROUND
A study of prenatal genetic diagnosis for 22q11.2 microdeletion, which has a wide phenotypic spectrum that involves almost all organs, is rarely reported in China. This study aimed to explore the prevalence of 22q11.2 microdeletion in congenitally malformed fetuses via the fluorescent in situ hybridization (FISH) technique and to investigate the feasibility of use of amniocytes to diagnose 22q11.2 microdeletion syndrome prenatally.


METHODS
The study enrolled 23 cases of fetal cardiac malformation, as indicated by ultrasound in Beijing Anzhen Hospital and 14 cases of non-cardiac malformation, as determined by type-B ultrasound in Beijing Anzhen Hospital and other hospitals. Amniotic fluid was obtained by amniocentesis before odinopoeia, and the stillborn fetuses of the induced labor were preceded to autopsy. The amniotic fluid of 20 cesarean deliveries during the same period of time was used as a control. The TUPLE1 gene in the amniotic fluid of malformed and normal fetuses was assessed by the FISH method.


RESULTS
The prevalence rates of the TUPLE1 gene deletion in the amniotic fluid cells from fetuses with cardiac deformations and fetuses without such malformations were 43.5% and 57.1%, respectively. The deletion of TUPLE1 was significantly associated with fetal malformation.


CONCLUSIONS
Chromosome 22q11.2 microdeletion is one of the major factors leading to fetal congenital malformations, and prenatal FISH screening for 22q11.2 microdeletion syndrome is technically feasible using amniocytes.
Liu
Tao
T
Department of Gynecology, Anzhen Hospital, Capital Medical University, Beijing 100029, China.
Liu
Qing
Q
Wang
Yi-xin
YX
Yang
Dong
D
Xin
Yi
Y
Fang
Zhen
Z
Ding
Shu-fang
SF
Yang
Jie-fu
JF
D000328:Adult; D000649:Amniocentesis; D018797:Cell Cycle Proteins / Q000235:genetics; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005240:Feasibility Studies; D005260:Female; D005315:Fetal Diseases / Q000235:genetics; D005865:Gestational Age; D056488:Histone Chaperones / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D011247:Pregnancy; D011256:Pregnancy Outcome; D011296:Prenatal Diagnosis; D014157:Transcription Factors / Q000235:genetics
D018797:Cell Cycle Proteins; C086057:HIRA protein, human; D056488:Histone Chaperones; D014157:Transcription Factors