Page 43 - 南京医科大学自然版

第45卷第1期 王咏梅，吴 云，周 婷，等. 81例产前超声诊断胎儿异常的基因检测分析及临床价值［J］.
2025年1月 南京医科大学学报（自然科学版），2025，45（1）：35-40 · 37 ·

表1 14例WES检测阳性胎儿的超声结果、基因变异及妊娠结局
Table 1 Ultrasound finding，gene variants，and pregnancy outcomes in 14 fetuses with positive WES test results
Whether
Number Ultrasound results Gene Mutation site newly Pathoge⁃ Source of Related diseases Pregnancy
nicity variation outcome
issued
1 Increased echogenicity of both kid⁃ PKD1 c.10993_ No LP Maternal Autosomal dominant pol ⁃ Be born
neys；bilateral polycystic kidneys 10994del ycystic kidney disease
2 Abnormal development of the skel⁃ FGFR3 c.724C>T Yes P - Lethal osteodysplasia； Induce labour
etal system：irregular cranial ring， chondrodysplasia
narrow thoracic cage；the spine is
straight and the echo is reduced；
all four limbs are significantly short.
3 Bilateral hook hands，foot eversion， MYH3 c.1385A>G Yes LP - Distal joint contracture Induce labour
polydactyly，gastrointestinal malfor⁃
mation
4 NT thickening（5.7 mm），lymphat⁃ PTPN11 c.1507G>A Yes P - Noonan syndrome type 1； Induce labour
ic cyst，absent ductus venosus，ven⁃ LEOPARD syndrome type
tricular septal defect 1
5 Bilateral foot inversion，interlock⁃ TNNT3 c.188G>A Yes P - Distal arthrogryposis type Be born
ing fingers of both hands 2B
6 Spinal dysplasia，multiple verte⁃ TBX6 c.994del No LP Paternal Type 5 vertebral rib dys⁃ Be born
brae disordered plasia
7 Short femur，increased echogenici⁃ TRPV 6 c.1447C>T No LP Paternal， Neonatal transient hyper⁃ Induce labour
ty of both kidneys，large cardiotho⁃ maternal parathyroidism
racic ratio
8 Agenesis of the corpus callosum L1CAM c.925G>A No LP Maternal X ⁃ linked hydrocephalus Induce labour
with stenosis of the aque⁃
duct of Sylvius，MASA
syndrome，X⁃linked agen⁃
esis of the corpus callosum
9 Cardiac rhabdomyoma（multiple）， TSC2 c.5140 C>T Yes P - Tuberous sclerosis type 2 Induce labour
ventricular septal defect
10 The long bones of the limbs of twin A fetus c.341del No P Paternal Osteogenesis imperfecta Induce labour
fetuses are shorter than those of the COL1A1
corresponding gestational age，and
the shape of the femurs is abnormal.
11 NT thickening（3.9 mm），poor de⁃ ANKRD11 c.2175_ Yes P - KBG syndrome Induce labour
velopment of the nasal bone on one 2178del
side of the fetus，a small amount of
fluid in the abdominal cavity，and a
ventricular septal defect
12 Unilateral lateral ventricle enlarge⁃ CPT2 c.852del No LP Paternal Neonatal lethal carnitine Induce labour
ment，posterior fossa enlargement， palmitoyltransferase 2 de⁃
bilateral infantile polycystic kidney ficiency
13 Increased echogenicity of both kid⁃ HNF1B c.494G>A No LP Paternal Renal cyst ⁃ diabetes syn⁃ Be born
neys，left and right renal pelvis are drome and non⁃insulin⁃de⁃
0.45 cm and 0.66 cm wide respec⁃ pendent diabetes mellitus
tively
14 Unilateral lateral ventricle enlarge⁃ PTPN11 c.1391G>C No P Maternal Noonan syndrome type 1； Induce labour
ment，persistent left superior vena LEOPARD syndrome type
cava，atrioventricular septal defect， 1
small fetus