ObjectiveTo analyze the prenatal screening data of Longquanyi district, and evaluate the effect of prenatal screening technology in birth defects prevention. MethodsA total of 10230 serum samples in Chengdu Longquanyi District Prenatal Screening Center from November 2010 to December 2012 were tested and analyzed, and the risk rates of Down's Syndrome, Trisomy 18 Syndrome and Open Neural Tube Defects (ONTDs) were obtained by Risk2T risk calculation software. The results of prenatal screening were verified and evaluated by high risk referral, pregnancy tracing and pregnancy outcome follow-up. ResultsIn the 10 230 pregnant women, the positive rate of Down's Syndrome was 6.02%, Trisomy 18 Syndrome was 0.42% and Open Neural Tube Defects was 0.57%, and compliance rate of prenatal diagnosis was 51.56%. In the 57 high risk pregnant women of ONTDs, 53 women selected system color doppler ultrasound with a proportion of 92.98%, but in the 647 high risk pregnant women of Down's or Trisomy 18 Syndrome, only 47.30% of them chose amniocentesis for diagnosis. The χ2 analysis showed that the difference was significant compared between system color doppler ultrasound and amniocentesis group (P<0.05). By diagnosis, 3 Down's Syndrome patients were found. ConclusionSecond trimester maternal serum prenatal screening plays an important role in birth defects prevention in Longquanyi district. However, there is a great need to improve compliance rate of prenatal diagnosis of Down's and Trisomy 18 Syndrome.
ObjectivesTo systematically review the incidence of various outcomes in non-visualization of the fetal gallbladder (NVFGB) fetuses by prenatal ultrasonography.MethodsPubMed, The Cochrane Library, Elsevier, ClinicalKey, CBM, CNKI and WanFang Data databases were electronically searched to collect studies on NVFGB fetuses by prenatal ultrasonography from January 1990 to March 2019. Two reviewers independently screened literature, extracted data and assessed risk of bias of included studies. Then, meta-analysis was performed by using R 3.5.2 software.ResultsA total of 9 studies were included. The results of meta-analysis showed that: the incidence of fetal biliary atresia was 1.0%, with 2.0% in the isolated and 3.0% in the non-isolated. The incidence of cystic fibrosis was 6.0%, with 2.0% in the isolated and 9.0% in the non-isolated. The incidence of chromosomal abnormality was 5.0%, and 31.0% in non-isolated. The incidence of other malformations other than those described above was 13.0%, with 44.0% in the non-isolated. The incidence of gallbladder agenesis or absent gallbladder was 22.0%, with 28.0% in the isolated. The incidence of later visualization of gallbladder and normal fetal outcomes was 53.0%, with 63.0% in the isolated.ConclusionsCurrent evidence shows that most non-visualization of the fetal gallbladder can identify the presence of gallbladder during late gestation or neonatal ultrasonography. The exactly isolated non-visualization of the fetal gallbladder is highly related to the fetal gallbladder agenesis or the absence of the gallbladder. The non-isolated non-visualization of the fetal gallbladder is highly related to biliary atresia, cystic fibrosis (particularly in the presence of fetal bowel echogenicity), and chromosomal abnormalities (especially chromosome aneuploidy).
ObjectiveTo systematically review the prognosis of fetal isolated hyper echogenic kidneys (IHEK) on prenatal ultrasound examination. MethodsPubMed, EMbase, Web of Science, WanFang Data, and CNKI databases were electronically searched to collect cross-sectional studies on the prognosis of fetal IHEK on prenatal ultrasound examination from January 1990 to January 2021. Two reviewers independently screened literature, extracted data, and assessed the risk of bias of included studies; then, meta-analysis was performed by using R 3.5.2 software. ResultsA total of 9 cross-sectional studies involving 348 fetuses were included. The results of meta-analysis showed that the incidence rate of live births was 79% (95%CI 69% to 88%), termination of pregnancy/neonatal mortality (TOP/NND) was 30% (95%CI 15% to 45%), normal kidneys was 34% (95%CI 15% to 53%), autosomal recessive polycystic kidney disease (ARPKD) was 21% (95%CI 12% to 30%), autosomal dominant polycystic kidney disease (ADPKD) was 13% (95%CI 5% to 21%), and multicystic dysplastic kidney (MCDK) was 4% (95%CI 2% to 7%). Subgroup analysis showed that the prognosis of normal amniotic fluid subgroup was significantly superior to that of reduced amniotic fluid subgroup. ConclusionCurrent evidence shows that the incidence of adverse pregnancy outcomes in patients with IHEK on prenatal ultrasound examination is high, the prognosis is superior when IHEK with normal amniotic fluid volume, and is worse when with small amniotic fluid volume. Due to limited quality and quantity of the included studies, more high-quality studies are required to verify the above conclusion.
ObjectiveTo observe and determine the gene mutation site and clinical phenotype of a NDP gene mutant family, and provide a basis for the prenatal diagnosis of offspring. MethodsA pedigree investigation study. Two patients and 6 family members of a third-generation Han family with NDP gene mutation who were admitted to the Maternal and Child Health Hospital of Gansu Province from July 2019 to December 2021 were included in the study. The patients and their parents underwent the examination of pupil light reflex, strip light imaging, visual acuity evaluation, fundus color photography, and wide-field fluorescein fundus angiography (FFA). Peripheral blood of all the subjects was collected, the pathogenic genes were screened by whole exome sequencing, and NDP genes were detected by amplification of multiple ligated probes. DNA prenatal diagnosis was performed by amniocentesis at 19th weeks of the mother's third gestation.ResultsProband (Ⅲ1), male, 4 years old, full term natural delivery. At about 40 days after birth, B-mode ultrasonography indicated total retinal detachment in both eyes. Normal hearing and intelligence. Fundus examination was not performed. First sibling of proband (Ⅲ2, big younger brother), ophthalmologic examination 30 days after birth, retinal detachment in both eyes. Proband's mother (Ⅱ2) had unvascularized peripheral temporal retina in both eyes. Wide-angle FFA examination showed no vascularization of the peripheral temporal retina in both eyes, and slight leakage of peripheral vascular fluorescein. The proband's second sibling (Ⅲ3, little younger brother) was screened for neonatal eye disease 1 day after birth. No abnormalities were observed outside both eyes. Cornea and lens transparent. No abnormalities were observed in the optic disc and macula in both eyes. No vascular curvature was observed in the peripheral retina. The results of gene detection showed that there was hemizygote deletion in exon 2 of NDP gene of the proband (Ⅲ1) and its big younger brother (Ⅲ2). His mother (Ⅱ2) had heterozygosity deletion in exon 2 of NDP gene. The phenotype and genetic test results of the proband's father (Ⅱ1), uncle (Ⅱ3), maternal grandfather (Ⅰ1) and maternal grandmother (Ⅰ2) were not abnormal. ConclusionsThe hemizygote deletion in exon 2 of NDP gene is a pathogenic variation in the native family. The clinical phenotypes of different genders are different. Prenatal diagnosis is an effective way to block hereditary diseases in families.