Gestational Outcomes of Pregnant Women Who Have Had Invasive Prenatal Testing for the Prenatal Diagnosis of Duchenne Muscular Dystrophy

Abstract

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.

Demographic and Clinical Profile of Women Attending Genetic Clinic for Prenatal Invasive Testing at a Tertiary Referral Center, India

“…21 These findings are not congruent with the study done in Turkey. 22 The majority of them (80%) reported no prior stillbirth, which is similar to the study done in Denmark. 23 Only 16.67% respondents reported that they had one stillbirth which is lower than that reported by Mikamo et al 4 In this study, 6.7% reported that they had one prior pregnancy loss while 5% reported that they had ≥ 2 prior pregnancy losses which are lesser than the findings in Netherlands.…”

“…In other studies, abnormal screening test results, previous history of an affected child and prior pregnancy loss(es)/stillbirths were the main reasons for referral. 1,4,22 Responding to the history of prior induced termination of pregnancy, 6.7% of respondents reported that they had one induced termination of pregnancy. Nearly one-third (33.3%) reported that the current pregnancy was unplanned which is similar to the study done by Tsai et al 20 Of the respondents, 16.67% reported a history of a previously affected child with genetic anomaly which is quite higher than the other studies.…”

“…24 These obstetric characteristics are congruent with the study findings by Mikamo et al 4 In this study, the mean gestational age of the respondents was 19.24 ± 2.63 weeks which is quite higher than that of Turkey. 22 This is most likely due to delay in referral or delay in seeking care. The advanced period of gestation (POG) might affect in the decision-making process regarding the termination of pregnancy when required which also adds to mental disturbances and trauma.…”

Successful strategy of comprehensive pre-implantation genetic testing for Duchenne muscular dystrophy and chromosome balance using karyomapping and fluorescent PCR

“…Normal results reassure parents that their baby will be unaffected. However, abnormal results gives the couple a difficult decision as whether to ter minate or continue the pregnancy and prepare for postnatal affected infant [26]. In addition, irrespective of the results, some pregnancies may miscarry following the procedures [23][24][25].…”