Background: Prenatal diagnosis has become a standard part of obstetrics care. Genetic diagnoses are established prenatally through the sampling of fetal genetic material. So that the presence of fetal DNA in maternal plasma has led to exciting possibilities of non-invasive prenatal diagnosis. Objectives:In order to provide a reliable non-invasive method for diagnostic of the sex linked disorders. Subjects and method: Fetal gender was determined in 10 pregnant women in which 6 male fetus and 4 female fetus. They are between 34 and 36 weeks of gestation using DNA extracted from 1.6ml of each maternal serum. Maternal serum was put into vacutainer SST before delivery while two pregnant women were implemented by caesarean section at Hanoi Hospital for Obstetricts and Gynecology. Results:The 198bp SRY gene-specific sequence on Y chromosome, 261 bp ATL1 gene specific sequence on X chromosome were amplified in nested PCR. The results were confirmed by examination of newborn child after delivery.The mean level of using DNA extracted from maternal serum was 8.73 \xb1 2.36 ng/\xb5l. The mean level extracted fromperipheral blood was 66.2 \xb1 7.07 ng/\xb5l. Conclusion: The 198 bpSRY specific sequence we detected in 6 serum sample from pregnant women with male fetus. In the remaining cases bearing female foetuses only the 261 bp ATL1 gene sequence was detected. The result was completely concordant with the examination of the newborn child after delivery.
Serum/ immunology ; Prenatal Diagnosis/ methods ; Polymerase Chain Reaction/ methods

OBJECTIVE: To analyze the results of noninvasive prenatal screening (NIPS) for fetal chromosome aneuploidy in twin pregnancy. METHODS: A total of 2057 women with twin-pregnancy between 12-26 weeks were recruited from Women's Hospital, Zhejiang University School of Medicine, Hangzhou Municipal Women's Hospital and Jiaxing Maternal and Child Health Hospital during February 2015 to August 2018. The cell-free DNA was extracted from the peripheral blood sample for DNA library, and non-invasive prenatal testing (NIPT) was performed by high-throughput sequencing technique. The fetal karyotype analysis or neonatal karyotype analysis was performed in pregnant women with fetal chromosome aneuploidy, and all subjects were followed up. The efficiency of NIPS testing for twin aneuploidy was calculated. RESULTS: NIPS revealed chromosome abnormalities in 11 out of 2057 twin pregnant women, 9 cases were confirmed chromosome abnormalities, 2 cases were normal and no false negative cases. In this screening, the detection rate, sensitivity, specificity, positive predictive value, false positive rate of NIPS were 100.00%, 100.00%, 99.90%, 81.82%, 0.10%. Those were 100.00%, 100.00%, 99.95%, 87.50% and 0.05% for trisomy 21, 100.00%, 100.00%, 100.00%, 100.00%, 0.00% for trisomy18, and the specificity and false positive rate for trisomy13 were 99.95% and 0.05%, respectively. CONCLUSIONS NIPS can detect fetal chromosomal aneuploidy rapidly and accurately in twin pregnancies,and it is of value in clinical application.
Aneuploidy ; Female ; Humans ; Noninvasive Prenatal Testing ; standards ; Pregnancy ; Pregnancy, Twin ; Prenatal Diagnosis ; methods ; Reproducibility of Results ; Trisomy

DNA Mutational Analysis ; methods ; Ellis-Van Creveld Syndrome ; diagnosis ; Female ; Humans ; Male ; Pregnancy ; Prenatal Diagnosis ; methods ; Proteins ; genetics ; Ultrasonography, Prenatal

PURPOSE: Fast MRI has provided detailed and reproducible fetal anatomy. This study was performed to evaluate the usefulness of fetal MRI for prenatal diagnosis. MATERIALS AND METHODS: Fifty-six fetuses with congenital abnormalities on ultrasonography were evaluated by fetal MRI from 2001 to 2004 in Severance Hospital. Final diagnosis was made by postnatal pathology, postnatal MRI, and other modalities (such as ultrasound, retrograde pyelogram). A 1.5-Tesla superconductive MR imaging unit was used to obtain half-Fourier acquisition single-shot turbo spin images. RESULTS: Of the 56 fetuses, intracranial abnormalities were found in 26 fetuses, intraabdominal abnormalities in 17 fetuses, intrathoracic in 6 fetuses, head and neck in 5 fetuses, and other sites in 2 fetuses. There were six cases in which the diagnoses of fetal MRI and ultrasonography differed. In such cases, fetal MRI provided more exact diagnosis than ultrasonography (5 vs. 0). Three fetuses with intracranial abnormalities on ultrasonography were diagnosed as normal by fetal MRI and in postnatal diagnosis. CONCLUSION: Although ultrasonography is known as a screening modality of choice in the evaluation of fetus because of the cost-effectiveness and safety, the sonographic findings are occasionally inconclusive or insufficient for choosing the proper management. Thus, in this study, we suggest that fetal MRI is more useful than ultrasonography for the evaluation of intracranial abnormalities in some instances. For prenatal counseling and postnatal treatment planning, fetal MRI can be informative when prenatal ultrasonography is inadequate and doubtful.
Female ; Fetal Diseases/*diagnosis/ultrasonography ; Humans ; *Magnetic Resonance Imaging ; Pregnancy ; Prenatal Diagnosis/*methods ; Retrospective Studies ; Sensitivity and Specificity ; Ultrasonography, Prenatal

BACKGROUNDRight dominant heart (RDH) in fetuses can occur with a number of cardiac as well as noncardiac anomalies. Analysis of the enlargement of the right cardiac chamber in the fetus remains a major challenge for sonographers and echocardiographers. The aim of this study was to report the experience with prenatal diagnosis of RDH in the fetuses over a 7-year period.

METHODSFetuses with prenatal diagnosis of RDH from July 2009 to July 2016 were evaluated in two different categories: according to the gestational age, Group I (n = 154, second trimester) and Group II (n = 298, third trimester); and according to the fetal echocardiography diagnosis, Group A (n = 452, abnormal cardiac structure) and Group B (n = 90, normal cardiac structure). Differences in categorical variables were assessed by Chi-square exact test and continuous variables were evaluated by independent Student's t-test or Mann-Whitney U-test depending on parametric or nonparametric nature of the data.

RESULTSOver a 7-year period, 452 fetuses were referred for the assessment of suspected RDH. Left-sided obstructive lesions were observed most frequently in the fetuses with RDH. When comparing Group I with Group II and Group A with Group B, the latter groups exhibited significant differences in the right/left ventricle (RV/LV) ratio (1.435 vs. 1.236, P = 0.002; 1.309 vs. 1.168, P = 0.047), RV width Z-score (1.626 vs. 1.104, P < 0.001; 1.553 vs. 0.814, P = 0.014), and above +2 cutoff percentages (14.3% vs. 22.5%; P = 0.038; 21.5% vs. 12.2%, P = 0.046). Multivariable logistic regression revealed no variables associated with perinatal survival.

CONCLUSIONSThe study demonstrates that RDH warrants careful attention to the possible presence of a structural cardiac anomaly, especially left-sided obstructive lesions. A diagnosis of RDH is best supported by a combination of the RV Z-score and RV/LV ratio. Most of the fetuses with RDH and structurally normal hearts had favorable outcomes.

Echocardiography ; Female ; Fetal Diseases ; diagnosis ; Fetal Heart ; abnormalities ; Heart Ventricles ; abnormalities ; Humans ; Pregnancy ; Prenatal Diagnosis ; methods ; Ultrasonography, Prenatal

OBJECTIVE To assess the application value of multiplex ligation-dependent probe amplification (MLPA) for the detection of gene deletion and prenatal diagnosis of α-thalassemia. METHODS MLPA was applied for 2 cases with α-thalassemia phenotype by whole blood cell counting and hemoglobin component detection but were ruled out by regular molecular diagnosis. Potential gene deletions and point mutations of α-thalassemia gene were detected with regular Gap-polymerase chain reaction (Gap-PCR) and reverse dot blotting (RDB) in 89 cases where one or both partners were carriers of α-thalassemia mutations. Meanwhile, MLPA was used for detecting α-globin gene deletion among the 89 samples. RESULTS For the 2 cases with α-thalassemia phenotype, no α globin gene deletion was detected by MLPA, but were subsequently confirmed as iron-deficiency anemia. The results of MLPA and Gap-PCR detection for the 88 cases were consistent, except for 1 fetal sample (chorionic villi) which could not be diagnosed by Gap-PCR and was confirmed to be - SEA/αα by MLPA. CONCLUSION MLPA can be applied to prenatal diagnosis of α-thalassemia as an effective supplement to Gap-PCR to reduce both misdiagnosis and missed diagnosis and improve the accuracy of prenatal diagnosis.
Adult ; Female ; Humans ; Nucleic Acid Amplification Techniques ; methods ; Pregnancy ; Prenatal Diagnosis ; methods ; alpha-Thalassemia ; diagnosis ; genetics

Down Syndrome ; diagnosis ; Female ; Fluorescence ; Humans ; Male ; Polymerase Chain Reaction ; methods ; Pregnancy ; Prenatal Diagnosis ; methods

OBJECTIVETo describe a community-based model for prevention and control of severe alpha and beta thalassemias in Zhuhai city of Guangdong province.

METHODSCouples for premarital medical examination or regular healthcare examination in pregnancy were enrolled in this prospective screening program, which was supported by the two-level network composed of 6 local hospitals for testing thalassemias and follow-up for genetic counseling. A conventional heterozygote screening strategy was used to determine alpha and beta thalassemia traits in women and their partners according to the standard procedures of hematological phenotype analysis. Then confirmative diagnosis of alpha and beta thalassemia was performed on those couples suspected at-risk for severe thalassemia by using the PCR-based molecular diagnostic assays. The couples at-risk for severe thalassemia were counseled and offered prenatal diagnosis and termination of pregnancy in case of an affected fetus.

RESULTSDuring the period between January 1998 and December 2005, the screened records included 85522 young females and their partners for premarital screening and 10439 pregnant women for prenatal screening, with 71.38% coverage of total population recorded in this city for premarital screening. Six thousands five hundreds and sixty-three individuals in total were found to be the carriers of thalassemias, with 4312 for alpha thalassemia (4.5%) and 2251 for beta thalassemia (2.3%), respectively. One hundred and forty-eight couples were diagnosed to be at-risk for thalassemias, including 103 for alpha thalassemia and 45 for beta thalassemia, respectively. Successful prenatal diagnosis was made for 142 (98 for alpha thalassemia and 44 for beta thalassemia) out of 148 (95.9%) pregnancies at-risk for severe thalassemias. Twenty-three cases of hydrops fetalis, 4 of Hb H diseases and 14 of beta thalassemia were identified. All 41 pregnancies with affected fetuses were voluntarily terminated. Thus, this has led to a marked decrease of severe thalassemia syndrome since the program started.

CONCLUSIONWe presented the first community-based prospective screening program in China for control of alpha and beta thalassemia in Zhuhai city with a population of 1.29 million through premarital or prenatal screening. This model could be used for control of thalassemias and other hemoglobinopathies in other regions of China and also in other developing countries.

China ; Humans ; Prenatal Diagnosis ; methods ; alpha-Thalassemia ; diagnosis ; genetics ; beta-Thalassemia ; diagnosis ; genetics

OBJECTIVETo assess the value of chromosomal karyotyping and array-based comparative genomic hybridization for the diagnosis of fetus with abnormalities detected by ultrasonography.

METHODSUmbilical cord blood samples were derived from 1 603 pregnant women. The samples were cultured for routine G-banding karyotype analysis. Among these, 792 samples have further subjected to array CGH analysis.

RESULTSAmong the 1 603 fetuses, 117 (7.30%) were found with chromosomal abnormalities. These included 72 numerical aberrations and 45 structural abnormalities, which respectively accounted for 4.49% and 2.81% of all cases. For those <35 years and ≥ 35 years, a significant difference has been found in terms of fetal chromosomal abnormalities (chi-square is 30.687, P< 0.01). And there was also a significant difference between those with isolated, two or multiple ultrasonographic markers (chi-square is 85.50, P< 0.01). Among 736 fetuses with a normal karyotype, array CGH has detected 17 (2.31%) with a microdeletion or microduplication.

CONCLUSIONKaryotype analysis and array CGH should be offered to all fetuses with ultrasonography detected anomalies regardless the number of markers.

Adolescent ; Adult ; Chromosome Aberrations ; Chromosome Disorders ; diagnosis ; genetics ; Comparative Genomic Hybridization ; methods ; Female ; Fetus ; abnormalities ; Humans ; Karyotyping ; Pregnancy ; Prenatal Diagnosis ; methods ; Ultrasonography, Prenatal ; methods ; Young Adult

OBJECTIVETo assess the value of multiple quantitative fluorescence polymerase chain reaction (QF-PCR) approach for rapid prenatal diagnosis of common chromosomal aneuploidies.

METHODSA total of 4760 amniotic samples from 4649 pregnant women were analyzed with QF-PCR for 21, 18, 13, X and Y aneuploidies, and the results were compared with those of karyotype analysis.

RESULTSThe overall success rate for QF-PCR was 98.4%. All the 48 cases of 21, 18, 13, X and Y aneuploidies (including 2 case of 46, XY, rob(13:21), +21; 4 trisomy 21 in 4 twins) were detected by QF-PCR, with the overall sensibility and specificity both reaching 100%. One mosaicism of trisomy 21 and 4 mosaicisms of sex chromosome (1 misdiagnosed by karyotype analysis) were also detected by QF-PCR. Four mosaicisms of sex chromosome were verified as missed diagnosis. All the 64 cases failed by karyotype analysis were successfully analyzed by the QF-PCR approach. The total consistency rate for QF-PCR and karyotyping has reached 98.3%.

CONCLUSIONQF-PCR approach can diagnose 21, 18, 13 as well as X and Y aneuploidies within 48 hours, in addition with a portion of mosaicisms. It is an efficient and reliable method for rapid prenatal diagnosis, and therefore provide an important supplement for karyotype analysis.

Adult ; Aneuploidy ; Female ; Fluorescence ; Humans ; Karyotype ; Microsatellite Repeats ; Polymerase Chain Reaction ; methods ; Pregnancy ; Prenatal Diagnosis ; methods