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Patau Syndrome - A case later diagnosed

Astrit M. Gashi

Department of Obstetrics and Gynecology, University Clinical Centre of Kosovo, Pristine

E-mail :

DOI: 10.15761/JPR.1000120

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A 35-year-old G3P2002 at  39  weeks’  gestation  presents  to  labor  and delivery (L&D) with uterine contractions, and is found to be in active labor with the fetus in head presentation. She has had a complicated antepartum course with a non-good prenatal care including lack of one anatomy scan in the second trimester. Her prior infants, each weighing approximately 3200 g, were delivered vaginally without complications. Ultrasound  evaluation  upon  presentation  to  L&D  confirms  that  the infant  is  in head presentation; the estimated fetal weight (EFW) is 3400 g. Clinical assessment of the maternal  pelvis  are  determined  to  be  adequate  for  a  fetus  of  this  estimated weight. The cervix is 5 cm dilated, 100% effaced and the fetal head is at zero station. After five hours, the patient with vaginal delivery gave birth to a male baby with body weight 3450 g and Apgar score 7/8. The infant had a bilateral cleft lip and palate (figure 1), became a karyotype that resulted with an extra copy of chromosome 13. The patient was informed in detail, as well as receiving appropriate advice and recommendation. 

Figure 1. Patau syndrome. Bilateral cleft lip and palate

Trisomy 13 or Patau syndrome in 1960, was described as one genetic disorder in which a person has an extra copy of chromosome 13 (or 3 copies of genetic material from chromosome 13, instead of the usual 2 copies). Trisomy 13 occurs in about 1 out of every 12,500 newborns [1,2,3,4,5]. Patau syndrome can be caused by free trisomy of chromosome 13 (75% of cases), and trisomy from Robertsonian translocations (25% of cases). Prenatal diagnosis is feasible by G-banding of  chromosomes  from  chorionic  villi,  amniocytes, and  peripheral  leukocytes, while ultrasound  screening can reveal an  enlarged nuchal translucency at 12–14 weeks of gestation, and  a  wide  spectrum  of major  anomalies  that  can  be  associated  with  trisomy 13 such as; CNS  anomalies (45%–55%): holoprosencephaly, agenesis of the corpus callosum, and cerebellar malformations., Craniofacial anomalies (80%): bilateral cleft lip and palate, micro and anophthalmia, and micrognathia., Congenital  heart  disease (40%–50%):septation defects  and  absent  pulmonary  venous  return., Urinary tract anomalies (30%–35%): cystic renal dysplasia., Skeletal anomalies (20%–30%): postaxial polydactyly and clenched hands [6]., Abdominal  wall  anomalies (30%): exomphalos etc. Trisomy 13 or Patau syndrome is a lethal condition in most cases, and 95% of the survivors die within 6 months. Very rare cases without severe malformations have  survived  for  several  years. With epilepsy, severe psychomotor delay and blindness can also be associated. 


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Article Type

Case Report

Publication history

Received date: October 16, 2017
Accepted date: October 31, 2017
Published date: November 03, 2017


©2017 Gashi AM. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.


Gashi AM (2017) Patau Syndrome - A case later diagnosed. J Pregnancy Reprod 1: DOI: 10.15761/JPR.1000120

Corresponding author

Astrit M. Gashi, MD

University Clinical Centre of Kosovo, Pristine, Tel;+37744266902;

E-mail :

Figure 1. Patau syndrome. Bilateral cleft lip and palate