Scopus Eşleşmesi Bulundu
3
Atıf
2018
Cilt
🔓
Açık Erişim
Scopus Yazarları: Mehmet Sinan Beksaç, Duygu Aydın Haklı, Gökçen Örgül, Burcu Soyak, Burcu Balci Hayta, Pervin Dincer, Haluk Topaloǧlu, Atakan Tanacan
Özet
Aim. To show the importance of prenatal diagnosis of Duchenne Muscular Dystrophy (DMD) and to demonstrate the effect of DMD gene mutations on gestational outcomes. Materials and Methods. We retrospectively evaluated 89 pregnancies in 81 individuals who were referred to Hacettepe University for prenatal diagnosis of DMD between January 2000 and December 2015. Prenatal diagnostic methods (chorionic villus sampling (CVS): 66, amniocentesis (AC): 23) were compared for test results, demographic features, and obstetric outcomes of pregnancies. The female fetuses were divided into two groups according to the DMD status (healthy or carrier) to understand the effect of DMD gene mutations on obstetric outcomes. Results. Eight prenatally diagnosed disease-positive fetuses were terminated. There was no statistically significant difference between the CVS and AC groups in terms of study variables. There were 46 male fetuses (51.6%) and 43 female fetuses (48.4%). Fifteen of the female fetuses were carriers (34.8%). Median birthweight values were statistically insignificantly lower in the carrier group. Conclusion. Pregnancies at risk for DMD should be prenatally tested to prevent the effect of disease on families and DMD carrier fetuses had obstetric outcomes similar to DMD negative female fetuses.
Anahtar Kelimeler
X-CHROMOSOME INACTIVATION
CARDIAC INVOLVEMENT
FEMALE CARRIERS
DYSTROPHINOPATHY
SYMPTOMS
FAMILIES
COHORT
GENE
DNA
Makale Bilgileri
Dergi
JOURNAL OF PREGNANCY
ISSN
2090-2727
Yıl
2018
/ 7. ay
Sayfalar
1 – 5
Makale Türü
Özgün Makale
Hakemlik
Hakemli
Endeks
SCI-Expanded
JCR Quartile
Q1
Yayın Dili
İngilizce
Kapsam
Uluslararası
Toplam Yazar
7 kişi
Erişim Türü
Basılı+Elektronik
Erişim Linki
Makaleye Git
Alan
Sağlık Bilimleri Temel Alanı-
Kadın Hastalıkları ve Doğum
YÖKSİS Yazar Kaydı
Yazar Adı
BEKSAÇ MEHMET SİNAN,TANAÇAN ATAKAN,AYDIN HAKLI DUYGU,ÖRGÜL GÖKÇEN,SOYAK BURCU,HAYTA BURCU,TOPALOĞLU HALUK AYDIN
YÖKSİS ID
3257151
Hızlı Erişim
Metrikler
Scopus Atıf
3
JCR Quartile
Q1
Yazar Sayısı
7