Report one case of pregnant woman aged 29 years old, with history of spontaneous abortion 1 year ago, without other medical condition. In this gestation, the last menstruation was on September, 26th 2004, and expected delivery time on July, 3rd 2005, weight gain was normal, and fetus was normal clinically. Ultrasonographic finding showed polyhydramnios and syndactyly on the right hand. Amniotic paracentesis for FISH test result revealed trisomy 18 disorder. This pregnant woman was indicated gestative cessation. Baby was born after 31st of pregnancy, Apgar’s score: 3/4, weight of 1100g, with syndactyly on the right hand, abnormal heels and face (low-set ears, micrognathia), and dead after 3 days
Trisomy ; Prenatal Diagnosis ; Case Reports

OBJECTIVE: To explore whether it is necessary to choose NIPT-plus for the prenatal screening of pregnant women. METHODS: The results of NIPT and NIPT-plus sequencing data, fetal DNA concentration, prenatal diagnosis and pregnancy outcome of 50 pregnant women were compared. RESULTS: Compared with NIPT, NIPT-plus attained similar fetal DNA concentration and a 4.4-fold increase in sequencing data. NIPT was able to detect 4 cases of 21-trisomy, 2 cases of 18-trisomy, and 9 cases of sex chromosome aneuploidies (SCAs) signaled by NIPT-plus, but missed one 18-trisomy, and failed to detect rare chromosome aneuploidies (RCAs) and microdeletion/microduplication syndromes (MMS). The PPVs of NIPT-plus for 21-trisomy, 18-trisomy, SCAs, MMS and RCAs were 100%, 100%, 44.4%, 30.4% and 0%, respectively. And those of NIPT for 21-trisomy, 18-trisomy, and SCAs were 100%, 100%, and 44.4%, respectively. CONCLUSION It is necessary for pregnant women to select NIPT-plus to improve the detection rate of common trisomies, SCAs and disease-specific MMS, therefore reduce the occurrene of birth defect.
Aneuploidy ; Female ; Humans ; Pregnancy ; Pregnant Women ; Prenatal Diagnosis ; Trisomy ; Trisomy 13 Syndrome ; Trisomy 18 Syndrome

No abstract available.
Dandy-Walker Syndrome* ; Prenatal Diagnosis* ; Trisomy*

OBJECTIVE: To assess the value of non-invasive prenatal testing (NIPT) for the detection of fetal chromosomal aneuploidies in women with twin pregnancy. METHODS: A total of 2473 women with twin pregnancy underwent the NIPT test to assess the risk for fetal chromosomal aneuploidies from January 2016 to September 2019. Those with a high risk by NIPT were confirmed by amniocentesis or chorionic villus sampling. All cases were followed up to evaluate the positive prediction value of NIPT for twin pregnancies. RESULTS: Among the 2473 women, the NIPT test has identified 31 cases (1.25%) with a high risk for fetal chromosomal aneuploidies, which included 5 cases of trisomy 21, 1 case of chromosome 21 deletion, 4 cases of trisomy 18, 7 cases of sex chromosome abnormality and 14 cases of microdeletion and microduplication. By invasive prenatal diagnosis or chromosomal karyotyping analysis of neonates, 5 cases of trisomy 21, 3 cases of trisomy 18, 1 case of sex chromosome abnormality, and 2 cases of microdeletion and microduplication were confirmed, which yielded a positive predictive value of 100%, 75%, 25% and 25%, respectively. CONCLUSION NIPT can be used for the screening of fetal chromosomal aneuploidies in women with twin pregnancy with high accuracy. The method is non-invasive, safe and effective for the screening of fetal chromosomal aneuploidies, in particular trisomy 21.
Aneuploidy ; Chromosome Disorders ; Female ; Humans ; Infant, Newborn ; Pregnancy ; Pregnancy, Twin ; Prenatal Diagnosis ; Trisomy ; Trisomy 13 Syndrome ; Trisomy 18 Syndrome

OBJECTIVE: To evaluate the efficacy of non-invasive prenatal testing (NIPT) in the prenatal screening and its role in the system of prenatal diagnosis. METHODS: A total of 22 649 singleton pregnant women who were registered and finally delivered or had induced labor at Beijing Obstetrics and Gynecology Hospital of Capital Medical University were enrolled. The routes of prenatal screening were analyzed to evaluate the efficacy of prenatal screening. Meanwhile, 9268 pregnant women who underwent invasive prenatal diagnosis procedure were enrolled. The indications and results of prenatal diagnosis were analyzed to evaluate the effectiveness of prenatal screening. RESULTS: 60.24% of singleton pregnant women have opted for Down syndrome screening, and their age was mainly under 35. The proportion of women opted for NIPT was 34.74%, and were mainly between 35 and 39. The overall diagnostic rate of trisomy 21, 18 and 13 trisomy for those with high risk by NIPT was 0.89%, which yielded a positive predictive value of 75.71%. For those with moderate risk by serum screening, 0.30% was predicted with a high risk by NIPT. Among women undergoing prenatal diagnosis, 63.04% and 21.22% had the indication of advanced age or high risk by serum screening, and the positive predictive values were 5.1% and 5.13%, respectively. By contrast, 2.30% of women undergoing prenatal diagnosis had a high risk by NIPT, which yielded a positive predictive value of 54.46%. CONCLUSION With the change of the age composition of pregnant women and increase in the complexity of pregnancy in China, to build a prenatal screening system based on NIPT will be helpful to improve the efficiency of the current system of prenatal screening and diagnosis.
China ; Down Syndrome/genetics* ; Female ; Humans ; Pregnancy ; Prenatal Diagnosis ; Trisomy 13 Syndrome ; Trisomy 18 Syndrome

OBJECTIVE: To explore the value of chromosomal microarray analysis (CMA) for the diagnosis of fetuses with high risk signaled by non-invasive prenatal testing (NIPT). METHODS: From June 2017 to August 2019, 628 pregnant women with high risk signaled by NIPT underwent invasive prenatal diagnosis. Amniotic fluid or cord blood samples were subjected to chromosomal karyotyping analysis or CMA. Pregnancy outcome and postnatal conditions of the fetuses were followed up. RESULTS: The positive predictive value for trisomy 21, trisomy 18, trisomy 13, sex chromosome aneuploidy, other rare trisomies and copy number variants (CNVs) among the 628 women were 86.4% (127/147), 41.7% (30/72), 12.9% (4/31), 43.7% (101/231), 16.5% (14/85) and 52.2% (35/67), respectively. In 218 samples with normal karyotype, 5.5% (12/218) of additional pathogenic CNVs and 2.3% (5/218) of loss of heterozygosity were detected by CMA. CONCLUSION CMA combined with karyotyping analysis can be used as first-tier test for prenatal diagnosis for women with high-risk signaled by NIPT.
Female ; Humans ; Karyotyping ; Microarray Analysis ; Pregnancy ; Prenatal Diagnosis ; Trisomy 13 Syndrome/genetics* ; Trisomy 18 Syndrome

OBJECTIVE: To analyze the Z values of true and false positive cases by non-invasive prenatal testing (NIPT) in order to improve its accuracy in clinical practice. METHODS: Results of 24 384 NIPT tests were reviewed. For cases with high risks for trisomies 21, 18 and 13, the range of Z values in true and false positive cases was analyzed and discussed. RESULTS: A total of 335 high-risk cases were identified by NIPT, among which 256 had elected prenatal diagnosis, 153 (59.77%) were verified as true positives, and 103 (40.23%) were false positives, and the area under the curve (AUC) was 0.9994. For NIPT screening, the positive predictive value (PPV) for trisomy 21 was 100% when Z>13, regardless if the pregnant woman was over 35. When 3trisomy 21 was 80% (8/10) for those>35 and about 41.6% (5/12) for those<35. For trisomy 18, the PPV was 100% when Z>13, and only 14.3% (1/7) when 3trisomy 13 was only 6.67% (1/15) when the trisomy 13 Z value was more than 20, the positive predictive value was 100% , and the trisomy 13 Z value was 3CONCLUSION NIPT is a technique similar to prenatal diagnosis and has a high positive predictive value for trisomies 18 and 21. Proper classification and division of the high-risk Z value of NIPT can further improve the positive predictive values for trisomies 21, 18 and 13 in different intervals, and is more helpful to guide clinicians in genetic counseling for high-risk pregnant women. Meanwhile, the compliance of prenatal diagnosis in high risk NIPT pregnant women with Z value between 3~13 was improved.
Female ; Pregnancy ; Humans ; Trisomy 13 Syndrome/genetics* ; Trisomy/genetics* ; Down Syndrome/genetics* ; Chromosome Disorders/genetics* ; Trisomy 18 Syndrome/diagnosis* ; Prenatal Diagnosis/methods*

Serological prenatal screening tests are widely used to detect fetal chromosomal abnormalities such as Down and Edward syndromes. Amniocentesis is conducted as a confirmatory test in the screening-positive case. After discovering of presence of fetal cell-free DNA in maternal blood, non-invasive prenatal test (NIPT) coupled with next generation sequencing are performed in abroad. Results of genomics-based NIPT results supplied to Labgenomics laborotory from June, 2013 to August, 2014 were analyzed. Maternal blood samples were collected into specific Cell-Free DNA BCT tube and were transported. The samples were then delivered to Ariosa Diagnostics by FEDEX. Fetal cell-free DNA samples were analyzed using the Harmony test with sequencing of relevant chromosomes and by using the FORTE (fetal-fraction optimized risk of trisomy evaluation) algorism at Ariosa Diagnostics. In all, 149 cases from 28 medical clinics were analyzed. Six subjects were required recollection of samples because of a low fetal DNA fraction in the initially obtained samples. Of these 6 subjects, no sample could be collected from one. Of the remaining 148 cases, 144 had a low risk of trisomy, and 4 had a high risk for Down syndrome, thus providing a positivity percentage of 2.7%. Fetal DNA fraction in the maternal blood samples ranged from 4.2% to 23.7% with a mean value of 12.0%. We have experienced cases with a high risk for Down syndrome with genomics-based NIPT referred to abroad.
Amniocentesis ; Chromosome Aberrations ; DNA ; Down Syndrome ; Prenatal Diagnosis ; Trisomy

Pena-Shokeir syndrome is a rare, often lethal disease, characterized by intrauterine growth retardation, craniofacial anomalies, limb ankylosis, polyhydramnios and pulmonary hypoplasia. This autosomal recessive disease should be differentiated from trisomy 18, which the second most common multiple congenital malformation syndrome. It is therefore clear that the two syndromes have certain features in common, the most consistent being craniofacial and limb abnormalities and intrathoracic pathology. Therefore, final diagnosis should be based on chromosome study. The case that we experienced had typical Pena-Shokeir phenotype, but chromosomal study show 47, XY, +18.
Ankylosis ; Diagnosis ; Extremities ; Fetal Growth Retardation ; Pathology ; Phenotype* ; Polyhydramnios ; Trisomy*

Female ; Humans ; Mosaicism ; Pregnancy ; Prenatal Care ; Prenatal Diagnosis ; Trisomy/genetics*