RECURRENT INCREASED NUCHAL TRANSLUCENCY:
A FIRST TRIMESTER PRESENTATION OF
FAMILIAL 13p SATELLITE DELETION
Uzun I, Has R, Alici E, Ozdemir M, İnan C, Erzincan S
*Corresponding Author: Dr. Isil Uzun, Department of Obstetrics and Gynecology, Acibadem Hospital, Halit
Ziya Usakhıgil Street, Bakırkoy, İstanbul, Turkey. Tel: +90-212-414-4400. Fax: +90-212-414-4152. E-mail:
isiluzu@gmail.com
page: 103
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CASE REPORT
A 35-year-old gravida 2, para 0 (G2P2A0) woman
at 7-weeks gestation was admitted to our clinic
for a routine prenatal check-up. Trans vaginal ultrasound
revealed a pregnancy at 7 weeks of gestation.
Amniocentesis had been performed for increased
nuchal translucency (NT) (3.7 mm) in her first pregnancy
8 years ago and short arm satellite deletion of
chromosome 13 (13p) had been found in the chromosomal
analysis. Consequently, parental karyotyping
was performed and polymorphisms in chromosome
13 were also found (46XX13p- and 46XY13ps-). The
parents were not related in any way. Medical history
of the parents was uneventful. Intellectual and social
development was completely normal and they had
no history of psychiatric disorder. The intellectual,
social, and physiological development of the first
sibling of the family was also uneventful.
At the 12th week of pregnancy, increased NT was
detected during trans abdominal ultrasound examination.
Nuchal translucency diameter was between
4.5 and 4.7 mm. Chorion villus sampling was also
performed at the 12th week of pregnancy. There were
no numerical aberrations. Microscopic evaluation of
metaphase plates revealed a short arm satellite deletion
of chromosome 13 (Figure 1). At the 20th week
of pregnancy, a detailed sonogram of the fetus was
performed, which revealed no structural malformations.
Subsequent prenatal examinations were uneventful.
A planned Cesarean section was performed
at the 39th week of pregnancy and a healthy baby boy,
weighing 3.7 kg and with a length of 51 cm, was
delivered with an Apgar score of between 9 and 10.
The newborn was completely normal upon examination.
Clinical examination of the baby at 2 years of
age revealed a healthy baby with normal motor and
mental development.
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