Korean J Obstet Gynecol.  2001 Jan;44(1):184-188.

A case of the Patau syndrome diagnosed in second trimester

Affiliations
  • 1Department of Obstetrics & Gynecology, College of Medicine, Chung-Ang University, Seoul, Korea.

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.

Keyword

Patau syndrome; Abnormal ultrasound finding

MeSH Terms

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
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