Clinical Experiences of Molecular Genetic Evaluation of Achondroplasia in Prenatal and Neonatal Cases

PURPOSE: The purpose of this study was to assess the characteristics of achondroplasia (ACH) diagnosed in fetuses or neonates and to evaluate the usefulness of a molecular genetic testing to confirm ACH. MATERIALS AND METHODS: The medical and ultrasonographic records of 16 pregnant women, who had molecular genetic testing for ACH performed on their fetus or neonate at the Cheil General Hospital between February 1999 and April 2013, were retrospectively analyzed. Detection of G1138A and G1138C mutations of the fibroblast growth factor receptor 3 (FGFR3) gene was accomplished by polymerase chain reaction - restriction fragment length polymorphism analysis. RESULTS: Of the eight fetuses and two neonates who were suspected of having ACH during pregnancy, four fetuses and one neonate was confirmed to have ACH and they all carried the heterozygous G1138A mutation. Out of 6 cases which had a history of ACH in prior pregnancies, three had genetic information for the previous fetuses while the other three did not. All six fetuses had no mutations at G380R. However, the one fetus of pregnant woman with non-confirmed ACH showed shortened long bone on ultrasound thereafter and the fetus was identified as having oto-spondylo-megaepiphyseal dysplasia after birth. CONCLUSION: Korean patients with achondroplasia have the heterozygous G1138A mutation that is most commonly defined in other countries. Molecular genetic evaluations of ACH are helpful not only for establishing diagnosis but for appropriate counseling with subsequent pregnancies.

Effects of Hysteroscopic Septotomy on Pregnancy in Patients with History of Infertility or Recurrent Spontaneous Abortion / 대한불임학회지

OBJECTIVE: The aim of this study was to evaluate the influences of uterine septum and their elimination on the reproductive outcomes in women who have history of recurrent spontaneous abortion (RSA) and/or infertility. METHODS: The medical records of reproductive outcomes in patients who have had history of RSA and infertility who were diagnosed with uterine septum only by hysterosalpingogram (HSG) between January 2008 and December 2009 were retrospectively analyzed. The subjects who have had severe male factor, tubal factors, other uterine factors, endocrine abnormalities, peritoneal factors, and abnormal karyotyping among both partners were excluded. In 27 patients, confirmation of diagnosis by laparoscopy and elimination of uterine septum by trans-vaginal hysteroscopy was done. Seventeen patients were strongly suspected to uterine septum on HSG but tried to get pregnancy without any other procedure for evaluation and management of uterine anomaly. Age matched 42 patients who have history of RSA and/or infertility and diagnosed to normal HSG finding at same period were randomly selected as control. The medical records of reproductive outcomes were analyzed and compared between groups. RESULTS: The mean time of observation after diagnosis was 21.8 months (10 to 32). 55.6% (15/27) of patients in patients who received trans-vaginal hysteroscopic uterine septotomy were success to get pregnancies and was significantly higher than that of 17 patients who did not receive proper management (23.5%, 4/17, p<0.05). In control population, 40.5% (17/42) were success to pregnancies and the differences were not statistically significant compared to both two study groups. The live birth rate which was excluded pregnancy loss by abnormal fetal karyotyping and congenital anomaly were 75% (9/12) in treated septated uterus group and 84.6% (11/13) in control group each which have no statistically significant different. In patients with septated uterus who did not receive proper management showed lower delivery rate (50%, 2/4) than that of other groups but was not statistically significant. CONCLUSION: According to present data, women with a uterine septum have an increased chance of successful pregnancy with improved obstetric outcome after proper management of the uterine cavity. And these results were showed in patients with no regard to their reproductive history. But, in case of failed to receive proper management, uterine septum can affect not only pregnancy ongoing but successful pregnancy too.