ABSTRACT
OBJECTIVE@#To carry out carrier screening for Spinal muscular atrophy (SMA) in reproductive-aged individuals from Dongguan region and determine the carrier frequency of SMN1 gene mutations.@*METHODS@#Reproductive-aged individuals who underwent SMN1 genetic screening at the Dongguan Maternal and Child Health Care Hospital from March 2020 to August 2022 were selected as the study subjects. Deletions of exon 7 and 8 (E7/E8) of the SMN1 gene were detected by real-time fluorescence quantitative PCR (qPCR), and prenatal diagnosis was provided for carrier couples by multiple ligation-dependent probe amplification (MLPA).@*RESULTS@#Among the 35 145 subjects, 635 were found to be carriers of SMN1 E7 deletion (586 with heterozygous E7/E8 deletion, 2 with heterozygous E7 deletion and homozygous E8 deletion, and 47 with sole heterozygous E7 deletion). The carrier frequency was 1.81% (635/35 145), with 1.59% (29/1 821) in males and 1.82% (606/33 324) in females. There was no significant difference between the two genders (χ² = 0.497, P = 0.481). A 29-year-old woman was found to harbor homozygous deletion of SMN1 E7/E8, and was verified to have a SMN1∶SMN2 ratio of [0∶4], none of her three family members with a [0∶4] genotype had clinical symptoms. Eleven carrier couples had accepted prenatal diagnosis, and one fetus was found to have a [0∶4] genotype, and the pregnancy was terminated.@*CONCLUSION@#This study has determined the SMA carrier frequency in Dongguan region for the first time and provided prenatal diagnosis for carrier couples. The data can provide a reference for genetic counseling and prenatal diagnosis, which has important clinical implications for the prevention and control of birth defects associated with SMA.
Subject(s)
Humans , Child , Pregnancy , Male , Female , Adult , Homozygote , Sequence Deletion , Prenatal Diagnosis , Genetic Testing , Muscular Atrophy, Spinal/genetics , Survival of Motor Neuron 1 Protein/genetics , Genetic Carrier ScreeningABSTRACT
<p><b>OBJECTIVE</b>To explore the value of multiplex ligation-dependent probe amplification (MLPA) for the detection of chromosome abnormalities in miscarriage tissues, and to correlate the result with ultrasound findings.</p><p><b>METHODS</b>A total of 421 cases of spontaneous abortions and fetal deaths were detected with the MLPA method.</p><p><b>RESULTS</b>Among the 421 samples, 232 (55.11%) had an abnormal MLPA result. For the 286 cases derived from < 13 weeks pregnancy, 206 (72.03%) were abnormal. For the 49 cases from 14-19 weeks pregnancy, 14 (28.57%) were abnormal. For the 86 cases derived after 20 weeks pregnancy, 12 (13.95%) were abnormal. Among the 117 cases with abnormal ultrasound findings, 33 cases (28.21%) had an abnormal MLPA result, 28 out of the 33 cases were numerical chromosome abnormality, 4 cases were chromosome microdeletion and/or micro duplication, 1 case had both numerical abnormality and microduplication. For those with abnormal ultrasound findings for the neck region, fetal edematous syndrome, multiple malformations and digestive system, the detection rates for MLPA were 71.4%, 58.8%, 37.8%, and 9.1%, respectively. For those with abnormal finding of cardiac system, nervous system, face, skeletal system and urinary system, none was found with positive results of MLPA.</p><p><b>CONCLUSION</b>Numerical chromosomal abnormalities account for the majority of cases with spontaneous abortion. With the increase of gestational age, the occurrence of chromosomal abnormalities gradually declines. Combined ultrasound and MLPA assay can improve the detection rate and accuracy for chromosomal abormalities.</p>
Subject(s)
Female , Humans , Pregnancy , Abortion, Spontaneous , Diagnostic Imaging , Genetics , Chromosome Deletion , Chromosome Disorders , Diagnostic Imaging , Genetics , Chromosome Duplication , DNA , Fetal Diseases , Diagnostic Imaging , Genetics , Gestational Age , Multiplex Polymerase Chain Reaction , Methods , Reproducibility of Results , Sensitivity and Specificity , Telomere , Genetics , Ultrasonography, Prenatal , MethodsABSTRACT
Objective To study the related factors of hemorrhage of uterine scar again after cesarean section,available for peer exchange.Methods A retrospective analysis of clinical data of 650 patients with scar uterus again cesarean section patients,analysis of postoperative hemorrhage patients,the causes of bleeding.They were divided into placental group (n =6),incision dehiscence group (n =7),uterine atony group (n =17)according to the causes of hemorrhage,and related factors of postoperative bleeding were analyzed.Results The bleeding volume of the placental group in operation[(2 500 ±500)mL]was higher than the uterine atony group[(1 300 ±400)mL] and the incision dehiscence group[(700 ±200)mL].The bleeding volume of the uterine atony group was higher than the incision dehiscence group (t =10.29,5.56,4.33,all P <0.05).The bleeding volume of the uterine atony group after operation[(100.09 ±36.45)mL]was higher than the placental group[(90.71 ±20.31)mL]and the uterine atony group[(81.23 ±30.34)mL].The bleeding volume of the placental group after operation were higher than the uterine atony group (t =3.94,3.02,2.78,all P <0.05).4 cases of hysterectomy,3 cases of conservative surgery in placental group.1 case of hysterectomy,16 cases of conservative surgery in uterine atony group.7 cases conservative surgery in incision dehiscence group.Conclusion placental factors,uterine atony,incision dehiscence all can lead to scar uterus again cesarean section hemorrhage.We should also strengthen the clinical prevention work,and actively take relevant measures,reduce postoperative bleeding risk,to ensure the safety of the mother and infant.