Prenatal diagnosis of complete trisomy 9: a case report and review of the literature.
Complete trisomy 9 is a very rare chromosome aneuploidy, associated with specific patterns of multisystem dysmorphism and a wide spectrum of congenital anomalies. We present a case of complete trisomy 9 with prenatal sonographic findings in the second trimester. The combination of sonography and karyotyping from cordocentesis enabled us to establish the prenatal diagnosis. An additional clinical feature of this syndrome that has not been reported previously is an aortopulmonary communication. A review of the literature specifically dealing with prenatal sonographic findings with complete trisomy 9 is also presented.
Kor-Anantakul
Ounjai
O
Department of Obstetrics and Gynecology, Prince of Songkla University, Hat Yai, Songkhla, Thailand.
Suwanrath
Chitkasaem
C
Kanngurn
Samornmas
S
Rujirabanjerd
Sinitdhorn
S
Suntharasaj
Thitima
T
Pinjaroen
Sutham
S
D000032:Abortion, Therapeutic; D002899:Chromosomes, Human, Pair 9; D005260:Female; D005500:Follow-Up Studies; D005817:Genetic Counseling; D006801:Humans; D010298:Parity; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011295:Prenatal Care; D011296:Prenatal Diagnosis; D018570:Risk Assessment; D012680:Sensitivity and Specificity; D014314:Trisomy; D016216:Ultrasonography, Prenatal