A case of the Patau syndrome diagnosed in second trimester.
- Author:
Gyu Hyun KANG
1
;
Sung Joon YOON
Author Information
1. Department of Obstetrics & Gynecology, College of Medicine, Chung-Ang University, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Patau syndrome;
Abnormal ultrasound finding
- MeSH:
Cleft Lip;
Cleft Palate;
Down Syndrome;
Extremities;
Female;
Fetal Growth Retardation;
Genetic Counseling;
Heart Septal Defects, Atrial;
Heart Septal Defects, Ventricular;
Holoprosencephaly;
Humans;
Infant;
Pregnancy;
Pregnancy Trimester, Second*;
Trisomy;
Ultrasonography
- From:Korean Journal of Obstetrics and Gynecology
2001;44(1):184-188
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Patau syndrome is trisomy 13, one of the abnormalities of chromosomal structure and, is relatively common with Down syndrome and Edward syndrome. Also it is associated with intrauterine growth retardation, holoprosencephaly, cyclopia, cleft lip, cleft palate, ventricular septal defect, atrial septal defect, extremity abnormalities, and renal malformations. Because early death is typical with 50% of infants with trisomy 13 dying within 1 month and only 18% surviving more than 1 year, prevention through genetic counseling may be important for subsequent pregnancy. We present one case of trisomy 13 with abnormal ultrasound finding of holoprosencephaly, cyclopia, micrognathia, ventricular septal defect, atrial septal defect, and intrauterine growth retardation. And confirmed chromosomally with pregnancy termination.
