Genetic diagnosis by chorionic villus sampling before 8 gestational weeks: Efficiency, reliability, and risks on 317 completed pregnancies

1992 ◽  
Vol 12 (10) ◽  
pp. 789-799 ◽  
Author(s):  
Bruno Brambati ◽  
Giuseppe Simoni ◽  
Maurizio Travi ◽  
Cesare Danesino ◽  
Lucla Tului ◽  
...  
Keyword(s):  
Chorionic Villus ◽  
Genetic Diagnosis ◽  
Chorionic Villus Sampling

scholarly journals Haplotype-Based Noninvasive Prenatal Diagnosis of 21 Families With Duchenne Muscular Dystrophy: Real-World Clinical Data in China

2021 ◽  
Vol 12 ◽  
Author(s):  
Lingrong Kong ◽  
Shaojun Li ◽  
Zhenhua Zhao ◽  
Jun Feng ◽  
Guangquan Chen ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Family Members ◽  
Chorionic Villus ◽  
Genetic Diagnosis ◽  
Blood Collection ◽  
Chorionic Villus Sampling ◽  
Clinical Environment ◽  
Noninvasive Prenatal Diagnosis

Noninvasive prenatal diagnosis (NIPD) of single-gene disorders has recently become the focus of clinical laboratories. However, reports on the clinical application of NIPD of Duchenne muscular dystrophy (DMD) are limited. This study aimed to evaluate the detection performance of haplotype-based NIPD of DMD in a real clinical environment. Twenty-one DMD families at 7–12 weeks of gestation were prospectively recruited. DNA libraries of cell-free DNA from the pregnant and genomic DNA from family members were captured using a custom assay for the enrichment of DMD gene exons and spanning single-nucleotide polymorphisms, followed by next-generation sequencing. Parental haplotype phasing was based on family linkage analysis, and fetal genotyping was inferred using the Bayes factor through target maternal plasma sequencing. Finally, the entire experimental process was promoted in the local clinical laboratory. We recruited 13 complete families, 6 families without paternal samples, and 2 families without probands in which daughter samples were collected. Two different maternal haplotypes were constructed based on family members in all 21 pedigrees at as early as 7 gestational weeks. Among the included families, the fetal genotypes of 20 families were identified at the first blood collection, and a second blood collection was performed for another family due to low fetal concentration. The NIPD result of each family was reported within 1 week. The fetal fraction in maternal cfDNA ranged from 1.87 to 11.68%. In addition, recombination events were assessed in two fetuses. All NIPD results were concordant with the findings of invasive prenatal diagnosis (chorionic villus sampling or amniocentesis). Exon capture and haplotype-based NIPD of DMD are regularly used for DMD genetic diagnosis, carrier screening, and noninvasive prenatal diagnosis in the clinic. Our method, haplotype-based early screening for DMD fetal genotyping via cfDNA sequencing, has high feasibility and accuracy, a short turnaround time, and is inexpensive in a real clinical environment.

scholarly journals A 26-Year Experience in Chorionic Villus Sampling Prenatal Genetic Diagnosis

2014 ◽  
Vol 3 (3) ◽  
pp. 838-848 ◽  
Author(s):  
Paula Jorge ◽  
Maria Mota-Freitas ◽  
Rosário Santos ◽  
Maria Silva ◽  
Gabriela Soares ◽  
...  
Keyword(s):  
Chorionic Villus ◽  
Genetic Diagnosis ◽  
Chorionic Villus Sampling ◽  
Prenatal Genetic Diagnosis

scholarly journals The genotype analysis and prenatal genetic diagnosis among 244 pedigrees with methylmalonic aciduria in China

2021 ◽  
Author(s):  
Shuang Hu ◽  
Lina Liu ◽  
Zhihui Jiao ◽  
Xiangdong Kong
Keyword(s):  
Prenatal Diagnosis ◽  
Chorionic Villus ◽  
Genetic Diagnosis ◽  
Methylmalonic Aciduria ◽  
Compound Heterozygous ◽  
Chorionic Villus Sampling ◽  
Prenatal Genetic Diagnosis ◽  
Heterozygous Variant ◽  
Compound Heterozygous Variants

Abstract To investigate the phenotypes, biochemical features and genotypes for 244 pedigrees with methylmalonic aciduria (MMA) in China, and to perform the prenatal genetic diagnosis by chorionic villus for these pedigrees. Gene analyses were performed for 244 pedigrees. There are 130 families, chorionic villus sampling was performed on the pregnant women to conduct the prenatal diagnosis. Among 244 patients, 168 (68.9%) cases were combined methylmalonic aciduria and homocystinuria, 76 (31.1%) cases were isolated methymalonic aciduria. All the patients were diagnosed with MMA by their clinical manifestation, elevated blood propionylcarnitine, propionylcarnitine to acetylcarnitine ratio, and/or urine/blood methylmalonic acid with or without hyperhomocysteinemia. MMACHC, MUT, SUCLG1 and LMBRD1 gene variants were found in 236 (96.7%) pedigrees included 6 probands with only one heterozygous variant out of 244 cases. For the 130 pedigrees who received a prenatal diagnosis, 22 foetuses were normal, 69 foetuses were carriers of heterozygous variants, and the remaining 39 foetuses harboured compound heterozygous variants or homozygous variants. The follow-up results were consistent with the prenatal diagnosis. The present study indicates genetic heterogeneity in MMA patients. Genetic analysis is a convenient method for prenatal diagnosis that will aid in avoiding the delivery of MMA patients.

scholarly journals Diagnostic Prenatal Invasive Procedures in Obstetrics

2013 ◽  
Vol 7 (4) ◽  
pp. 426-428 ◽  
Author(s):  
Maria Angelica Zoppi
Keyword(s):  
Single Gene ◽  
Chorionic Villus ◽  
Genetic Diagnosis ◽  
Beta Thalassemia ◽  
Pcr Analysis ◽  
Comparative Genomic ◽  
Chorionic Villus Sampling ◽  
Invasive Procedures ◽  
Diagnostic Prénatal ◽  
Fetal Blood Sampling

ABSTRACT In 1977, we performed in Cagliari the first invasive prenatal diagnosis for beta-thalassemia in Europe, using fetal blood sampling by placentacentesis and chain globins analysis at 20th week of gestation. Since then we have performed more than 8,000 fetal diagnoses for beta-thalassemia using placentacentesis, fetoscopy, cordocentesis, cardiocentesis, amniocentesis, transcervical-chorionic villus sampling (TC-CVS), transabdominal (TA-CVS) and preimplantation genetic diagnosis (PGD) by embryo biopsy. Since 1986 we have been using for the beta-thalassemia and other single gene diseases only TA-CVS and PGD and DNA polymerase chain reaction (PCR) analysis. For karyotype we have been using mostly TA-CVS and amniocentesis and traditional cytogenetic analysis, in several cases also fluorescent in situ hybridization (FISH) and comparative genomic hybridization (CGH) array. How to cite this article Monni G, Zoppi MA, Iuculano A. Diagnostic Prenatal Invasive Procedures in Obstetrics. Donald School J Ultrasound Obstet Gynecol 2013;7(4):426-428.

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