Cytogenetic Analysis of 5572 Patients Referred for Suspected Chromosomal Abnormalities in Morocco

Aboussair, Nisrine; Jaouad, Imane Cherkaoui; Dequaqui, Souad Cherkaoui; Sbiti, Aziza; El-Kerch, Fatiha; Yahya, Benbouchta; Natiq, Abdelhafid; Sefiani, Abdelaziz

doi:10.1089/gtmb.2011.0265

Cited by 15 publications

(14 citation statements)

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“…In principle, MPS‐based methods could detect all kinds of fetal aneuploidy and microdeletions/microduplications. The testing for trisomy 21/18 is the most clinically relevant because other numerical autosomal chromosome aberrations are rare after 12 weeks . On the other hand, the detection of other chromosomal abnormalities such as mosaic or structural variations still remains challenging for this new MPS‐based test.…”

Section: Discussionmentioning

confidence: 99%

Clinical application of massively parallel sequencing‐based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11 105 pregnancies with mixed risk factors

et al. 2012

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Objective To report the performance of massively parallel sequencing (MPS) based prenatal noninvasive fetal trisomy test based on cell-free DNA sequencing from maternal plasma in a routine clinical setting in China. MethodThe MPS-based test was offered as a prenatal screening test for trisomies 21 and 18 to pregnant women in 49 medical centers over 2 years. A total of 11 263 participants were recruited and the MPS-based test was performed in 11 105 pregnancies. Fetal outcome data were obtained after the expected date of confinement.Results One hundred ninety cases were classified as positive, including 143 cases of trisomy 21 and 47 cases of trisomy 18.With the karyotyping results and the feedback of fetal outcome data, we observed one false positive case of trisomy 21, one false positive case of trisomy 18 and no false negative cases, indicating 100% sensitivity and 99.96% specificity for the detection of trisomies 21 and 18.Conclusion Our large-scale multicenter study proved that the MPS-based test is of high sensitivity and specificity in

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Section: Discussionmentioning

confidence: 99%

Clinical application of massively parallel sequencing‐based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11 105 pregnancies with mixed risk factors

et al. 2012

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“…1 ) which usually is marked by a total or partial loss of one of the two X chromosomes. In fact, recurrent miscarriages, fetal perinatal death or malformed newborns are known to be frequent in TS patients [ 56 – 58 ]. Our data also confirm this strong association between women with TS and RM although the number of patients carrying this syndrome is not as expected in our cohort, since patients with TS are known to face RM and are not routinely referred for that.…”

Section: Discussionmentioning

confidence: 99%

Associations of recurrent miscarriages with chromosomal abnormalities, thrombophilia allelic polymorphisms and/or consanguinity in Saudi Arabia

et al. 2016

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BackgroundRecurrent pregnancy loss (RPL) or recurrent spontaneous abortion is an obstetric complication that affects couples at reproductive age. Previous reports documented a clear relationship between parents with chromosomal abnormalities and both recurrent miscarriages and infertility. However, limited data is available from the Arabian Peninsula which is known by higher rates of consanguineous marriages. The main goal of this study was to determine the prevalence of chromosomal abnormalities and thrombophilic polymorphisms, and to correlate them with RPL and consanguinity in Saudi Arabia.MethodsCytogenetic analysis of 171 consent patients with RPL was performed by the standard method of 72-h lymphocyte culture and GTG banding. Allelic polymorphisms of three thrombophilic genes (Factor V Leiden, Prothrombin A20210G, MTHFR C677T) were performed using PCR-RFLP (restriction fragment length polymorphism) and gel electrophoresis.ResultsData analysis revealed that 7.6 % of patients were carrier of numerical or structural chromosomal abnormalities. A high rate of translocations (46 %) was associated to increased incidence of RPL. A significant correlation between consanguineous RPL patients and chromosomal abnormalities (P < 0.05) was found. Both Factor V Leiden and Prothrombin A20210G allelic polymorphisms were significantly associated with a higher prevalence of RPL.ConclusionsThis study demonstrated a strong association between RPL and the prevalence of chromosomal abnormalities and inherited thrombophilia. Given the high rate of consanguineous marriages in the Saudi population, these results underline the importance of systematic cytogenetic investigation and genetic counseling preferably at the premarital stage or at least during early pregnancy phase through preimplantation genetic diagnosis (PGD).

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“…Chromosome analysis was carried applying RHG banding at a 400-band level as previously reported and according to the International System for Human Cytogenetic: Nomenclature ISCN 2013 [5,6]. …”

Section: Methodsmentioning

confidence: 99%

A new case of de novo 19p13.2p13.12 deletion in a girl with overgrowth and severe developmental delay

et al. 2014

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BackgroundWe report clinical and molecular cytogenetic characterization of a 2 year-old girl with 19p13.2p13.12 microdeletion and compare her clinical features with those of three other patients reported before.ResultArray comparative genomic hybridization (aCGH) revealed in the present patient a de novo microdeletion of 1.45 Mb within 19p13.2p13.12. The deletion includes seven OMIM genes: MAN2B1, RNASEH2A, KLF1, GCDH, NFIX, CACNA1A and CC2D1A.DiscussionThe present case and three other patients with partially overlapping 19p13 microdeletion share the following features: psychomotor and language delay, intellectual disability, seizures, hypotonia, skeletal anomalies and facial dysmorphism. The smallest region of overlapping between all four reported patients is around 300 kb and spans only two genes: NFIX and CACNA1A. Their haploinsufficincy could be the base for the phenotype -genotype correlation.

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Cytogenetic Analysis of 5572 Patients Referred for Suspected Chromosomal Abnormalities in Morocco

Abstract: This study compares the results of cytogenetic analysis of chromosomal abnormalities in the Moroccan population with other countries and research centers. This comparison will help Moroccan clinicians to determine the priority for requesting a cytogenetic analysis in individual cases.

Cited by 15 publications

References 15 publications

Clinical application of massively parallel sequencing‐based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11 105 pregnancies with mixed risk factors

Clinical application of massively parallel sequencing‐based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11 105 pregnancies with mixed risk factors

Associations of recurrent miscarriages with chromosomal abnormalities, thrombophilia allelic polymorphisms and/or consanguinity in Saudi Arabia

A new case of de novo 19p13.2p13.12 deletion in a girl with overgrowth and severe developmental delay

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