Accumulating studies have demonstrated that non-coding RNAs (ncRNAs), functioning as important regulators of transcription and translation, are involved in the establishment and maintenance of pregnancy, especially the maternal immune adaptation process. The endometrial stromal cells (ESCs), trophoblast cells, and decidua immune cells that reside at the maternal-fetal interface are thought to play significant roles in normal pregnancy and pregnancy-associated diseases. Here, we reviewed the up-to-date evidence on how microRNA, long non-coding RNA, and circular RNA regulate ESCs, trophoblast cells, and immune cells and discussed the potential applications of these ncRNAs as diagnostic and therapeutic markers in pregnancy complications.
Pregnancy ; Female ; Humans ; MicroRNAs/genetics* ; RNA, Long Noncoding/genetics* ; RNA, Circular/genetics* ; Trophoblasts ; Pregnancy Complications/genetics*

Fetal cell free DNA (cfDNA) in maternal blood circulation mainly originates from placental trophoblasts which have dual characteristics of apoptotic cells and the embryo, and can be affected by maternal factors. Pregnancy-related diseases including preeclampsia, gestational diabetes mellitus, preeclampsia, macrosomia and fetal growth restriction can seriously affect maternal health and pregnancy outcome. Early prediction and timely intervention are important means to reduce the risk. Fetal cfDNA and prediction of pregnancy-related diseases have become a hot topicfor current research. This paper reviews the latest progress made in the field.
Cell-Free Nucleic Acids/genetics* ; Female ; Fetus ; Humans ; Placenta ; Pregnancy ; Pregnancy Complications ; Pregnancy Outcome

Female ; Humans ; Nephritis, Hereditary ; classification ; diagnosis ; genetics ; Pregnancy ; Pregnancy Complications ; diagnosis ; genetics ; Prenatal Diagnosis

Objective of this study was to investigate the correlation of body-carried inherited paternal antigens (IPA) in one mother after delivery with pregnancy thrombocytopenia. The changes of platelet (Plt) count in the mother who delivered 2 years ago and her child who is now one year's old were detected, routine tests included Helicobacter pylori, CMV, EBV, parvovirus and other herpes virus's infection were carried out. Eight insertion or deletion sites (InDel) SNP with strong polymorphisms in Chinese population was selected to detect IPA from a genomic library, then primers were designed, the nested PCR and real-time quantitative PCR were used to detect 54 healthy mother-child pairs, the obtained average value was taken as the control, finally two InDel polymorphism sites between mother and child were used to identify the mother/child microchimerism. The IPA of the mother were examined at 4 time points. The results showed that the Plt level of the mother who had suffered thrombocytopenia since 20 weeks after pregnancy reduced to 10 × 10(9)/L. After using gamma globulin, the Plt count increased gradually, but the Plt count decreased rapidly when withdrawal. This patient did not have the infections of virus and Helicobacter pylori. IPA average value of 54 cases were from 10(-5) to 10(-4). At 67 d after delivery, the Plt count of the mother was 14 × 10(9)/L, IPA was 3.45 × 10(-3), which was 30 times higher than the normal. In one month after treatment the IPA was 1.3 × 10(-4) (Plt 256 × 10(9)/L), 5 months later it was 1.2 × 10(-4) (Plt 158 × 10(9)/L), and 6 months later it was 1.5 × 10(-4) (Plt 325 × 10(9)/L). When IPA reached the normal level, the Plt count returned to normal. Her child suffered thrombocytopenia (4 × 10(9)/L) one month after he was born, then recovered after high-dose gamma globulin therapy. It is concluded that abnormal high level IPA may lead to pregnancy thrombocytopenia.
Antigens ; genetics ; Chimerism ; Fathers ; Female ; Humans ; Infant, Newborn ; Male ; Pregnancy ; Pregnancy Complications, Hematologic ; genetics ; Thrombocytopenia ; etiology ; genetics

OBJECTIVETo investigate the relationship between a single nucleotide insertion/deletion(4G/5G) polymorphism located in the promoter region of the plasminogen activator inhibitor-1(PAI-1) gene and the pathogenesis of pregnancy-induced hypertension syndrome(PIHs).

METHODSThe 4G/5G polymorphism of PAI-1 gene in 171 PIHs patients (PIHs group) and that in 193 normal pregnant women (control group) were detected by a combination of polymerase chain reaction-restriction fragment length polymorphism.

RESULTS(1)The genotype frequencies of PAI-1 gene in PIHs group were 47.4% for 4G/4G, 41.5% for 4G/5G, and 11.1% for 5G/5G. The 4G/4G genotype and 4G allele frequencies of PAI-1 gene(47.4% and 0.681) for PIHs patients were higher than those (21.2% and 0.495) for normal controls respectively (P<0.001). (2)Both the 4G/4G genotype and the 4G allele of PAI-1 gene occurred more frequently in the severe PIHs group(61.3% and 0.758) than those (35.8% and 0.623) in the mild PIHs group respectively (P<0.001). However, there were no significant differences between those in mild group (35.8% and 0.623) and moderate group(42.8% and 0.625) respectively. (3) The 4G/4G genotype was significantly associated with PIHs (OR=3.34, 95%CI: 2.14-5.22).

CONCLUSIONThese findings suggested that PAI-1 gene polymorphism may be a susceptible factor to the pathogenesis of PIHs and the 4G/4G genotype may be one of the major risk factors for PIHs in pregnant women.

Adult ; Female ; Gene Frequency ; Genotype ; Humans ; Hypertension ; genetics ; Plasminogen Activator Inhibitor 1 ; genetics ; Polymorphism, Genetic ; Pregnancy ; Pregnancy Complications, Cardiovascular

OBJECTIVETo conduct molecular and prenatal diagnosis for a couple with β thalassemia.

METHODSBlood routine examination and hemoglobin analysis were used for screening of thalassemia. Seventeen common Chinese mutations of β thalassemia were detected for the carriers with β thalassemia using PCR/RDB. The unknown mutation of β thalassemia was identified by DNA sequencing and DHPLC analysis.

RESULTSThe husband was heterozygote of CD41/42 (-TCTT). The wife carried a mutation IVS-I-110 (G→A) of β thalassemia having not been reported in Chinese so far. The fetus was a double mutated heterozygote of IVS-I-110 (G→A) and CD41/42 (-TCTT). The pregnancy was terminated.

CONCLUSIONMutation IVS-I-110 (G→A) of β thalassemia in Chinese is of importance to the genetic counseling and prenatal diagnosis of thalassemia.

Base Sequence ; DNA Mutational Analysis ; Female ; Humans ; Male ; Mutation ; Pregnancy ; Pregnancy Complications, Hematologic ; genetics ; Prenatal Diagnosis ; beta-Thalassemia ; diagnosis ; genetics

OBJECTIVETo explore the relationship between human leukocyte antigen-DQA1 (HLA-DQA1) allele gene polymorphism and intrahepatic cholestasis of pregnancy (ICP).

METHODSForty-five patients with ICP, eighteen ICP families, forty-five normal pregnant women and eighteen normal control families were tested for HLA-DQA1 allele gene polymorphism by polymerase chain reaction with sequence-specific primer (PCR-SSP) method.

RESULTSThe frequency of HLA-DQA1*0301 in normal pregnant women was markedly higher than that in the ICP group (P>0.05). No significant differences were observed between the frequencies of other detected HLA-DQA1 alleles in both groups. The analysis of feto-maternal or couples sharing of the HLA-DQA1 alleles showed that no significant differences were observed between the two groups.

CONCLUSIONThe above findings suggest that there is no significant association between the genetic polymorphisms in HLA-DQA1 and ICP in Chengdu district; HLA-DQA1*0301 may be a protective gene against ICP. It may prevent the development of ICP.

Adult ; Alleles ; Cholestasis, Intrahepatic ; genetics ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; genetics ; HLA-DQ Antigens ; genetics ; Humans ; Polymerase Chain Reaction ; Polymorphism, Genetic ; genetics ; Pregnancy ; Pregnancy Complications ; genetics

OBJECTIVETo investigate the relation ship of estrogen receptor 2 gene (ESR2) polymorphism associated with intrahepatic cholestasis of pregnancy (ICP) in Chengdu of China.

METHODSBy polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method, the Rsa I polymorphism in exon 5 and the Alu I polymorphism in exon 8 of ESR2 were detected in 100 pregnant women with ICP (ICP group) and 100 normal pregnant women (control group) in Chengdu.

RESULTS(1) The frequency of the allele A of Alu I polymorphism in exon 8 was significantly higher in ICP group than in control group (P=0.031, OR=1.975), so did the frequency of the Aa+AA genotypes (P=0.028, OR=2.144). (2) The genotype distributions (rr, Rr and RR) and allele frequencies (r and R) of Rsa I polymorphism in exon 5 were not significantly different between the two groups (P>0.05).

CONCLUSIONThe Alu I polymorphism in exon 8 of ESR2 may be associated with the susceptibility of ICP in Chengdu. The Aa+AA genotype significantly elevated the risk suffering from the ICP. The Rsa I polymorphism in exon 5 of ESR2 is not associated with the risk getting the ICP in Chengdu.

Cholestasis, Intrahepatic ; genetics ; Estrogen Receptor beta ; genetics ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; genetics ; Genotype ; Humans ; Polymorphism, Genetic ; genetics ; Polymorphism, Restriction Fragment Length ; Pregnancy ; Pregnancy Complications ; genetics

OBJECTIVETo determine the carrier rate for common mutations causing deafness among pregnant women in order to prevent births of deaf children.

METHODSFor 893 pregnant women, 2 mL peripheral venous blood was taken and DNA was extracted. A deafness DNA microarray screening was applied to such samples, and DNA sequencing was applied to husbands of women with positive screening results.

RESULTSA total of 40 carriers were detected, with the overall mutation rate being 4.48%. Among such carriers, GJB2 235delC was the most common heterozygous mutation (18 cases) and the mutation rate was 2.02%. GJB2 299A-T heterozygous mutation was detected in 7 cases with a mutation rate of 0.78%. IVS7-2A to G heterozygous mutation was detected in 9 cases with a mutation rate of 1.02%. There were 2 cases carrying GJB3 heterozygous mutation and 2 cases of mitochondrial 12S rRNA heterozygous mutation, with a mutation rate of 0.22%. IVS7-2A>G with GJB3 538C>T double heterozygous mutation was detected in 1 case, and IVS7-2A>G with GJB2 299A-T double heterozygous mutation was detected in another case, with the mutation rate of each being 0.11%. DNA sequencing has failed to find presence of mutations in the same gene in the husbands. The results of neonatal hearing follow-up were all normal.

CONCLUSIONApplications of the deaf genes screening in pregnant women may play prove to be valuable for the early detection for neonatal deafness.

Adult ; Connexin 26 ; Connexins ; genetics ; Deafness ; diagnosis ; embryology ; genetics ; prevention & control ; Female ; Genetic Testing ; Humans ; Mutation ; Pregnancy ; Pregnancy Complications ; diagnosis ; genetics ; Prenatal Diagnosis ; RNA, Ribosomal ; genetics ; Young Adult

OBJECTIVETo investigate and clarify whether the genetic susceptibility to women with hypertensive disorder complicating pregnancy or pre-eclampsia is associated with polymorphisms and couple sharing rate of transporter associate with antigen processing genes(TAP).

METHODSOne hundred and two severe pre-eclampsia women and their spouses served as study group, and 200 normal pregnant women and their spouses were selected as control group. All pregnant women were primipara with single fetus. Genomic DNA was extracted from 2 mL cubital venous blood. We used the amplification refractory mutation system polymerase chain reaction(ARMS-PCR) to characterize TAP gene locus 333, 637, 379, 565, 665.

RESULTSWe observed eleven TAP haplotypes. There were four kinds of haplotypes(1A-1D) existing in TAP1, and seven kinds of haplotypes(2A-2G) existing in TAP2. The gene frequencies of TAP2B(Chi2=9.19, P<0.01, RR=4.18) and TAP2F(Chi2=5.34, P<0.05, RR=4.63) of patient group with pre-eclampsia were significantly higher as compared with control group. The analyses of some TAP haplotypes such as TAP1B(Chi2=4.87, P<0.05, RR=3.14), TAP1C(Chi2=5.42, P<0.05, RR=4.90), TAP2B(Chi2=9.65, P<0.01, RR=5.39) showed that the couple sharing rate of pre-eclampsia women and their spouses had statistically a highly significant increase in comparison with that of controls.

CONCLUSIONOur data suggest that the presence of TAP2B or TAP2F haplotypes should be considered as a risk increased to pregnant women being susceptible to hypertensive disorder complicating pregnancy; and also the elevated couple sharing rates of TAP1B, TAP1C and TAP2B genes will increase the opportunity or possibility of pregnant women suffering from pre-eclampsia disease.

ATP-Binding Cassette Transporters ; genetics ; Adult ; Family Characteristics ; ethnology ; Female ; Genotype ; Humans ; Hypertension ; complications ; Male ; Polymorphism, Genetic ; Pregnancy ; Pregnancy Complications ; etiology ; genetics