Prenatal detection of the separation of the great toe, toe syndactyly, and large bilateral choroid plexus cysts in a fetus with trisomy 18.
Prenatal sonographic presentation of toe deformities is associated with fetal aneuploidies. This report presents a second-trimester fetus with large bilateral choroid plexus cysts, clenched hands, separation of the great toe, toe syndactyly, abnormal double maternal serum biochemical screening results, and trisomy 18. We suggest a careful ultrasound screening of the fetal limbs and other organs once a choroid plexus cyst has been identified. If abnormal sonographic findings are present, or if the results of the maternal serum biochemical screening are abnormal, karyotyping should be recommended.
Chen
C P
CP
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China.
Liu
F F
FF
Jan
S W
SW
Chen
C W
CW
Wang
K G
KG
Lan
C C
CC
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000000981:diagnostic imaging; D000328:Adult; D018997:Chorionic Gonadotropin, beta Subunit, Human / Q000032:analysis; D002831:Choroid Plexus / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002887:Chromosomes, Human, Pair 18; D003560:Cysts / Q000175:diagnosis* / Q000000981:diagnostic imaging; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014034:Toes / Q000002:abnormalities*; D014314:Trisomy; D016216:Ultrasonography, Prenatal; D000509:alpha-Fetoproteins / Q000032:analysis
D018997:Chorionic Gonadotropin, beta Subunit, Human; D000509:alpha-Fetoproteins