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SCI-Expanded JCR Q1 Özgün Makale Scopus
Gestational Outcomes of Pregnant Women Who Have Had Invasive Prenatal Testing for the Prenatal Diagnosis of Duchenne Muscular Dystrophy
JOURNAL OF PREGNANCY 2018
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

Metrikler

Scopus Atıf 3
JCR Quartile Q1
Yazar Sayısı 7