Triploid pregnancy-Clinical implications.

Triploidy is a life-limiting genetic aberration resulting from an extra haploid set of chromosomes of paternal (diandric triploidy) or maternal origin (digynic triploidy). Triploidy affects around 1%-2% of all conceptions. The majority of cases is miscarried at early developmental stages.

Distribution of diandric and digynic triploidy depending on gestational age.

Purpose: To establish the distribution of diandric and digynic triploidy depending on gestational age.

Methods: 107 triploid samples tested prospectively in a single genetic department during a four-year period were analyzed for parental origin of triploidy by Quantitative Fluorescent Polymerase Chain Reaction (QF-PCR) (n=95) with the use of matching parental samples or by MS-MLPA (n=12), when parental samples were unavailable. Tested pregnancies were divided into three subgroups with regard to the gestational age at spontaneous pregnancy loss: <11 gestational weeks, 11-14 gestational weeks, and >14 gestational weeks.

Twin pregnancies discordant for digynic triploidy - A case series.

Objective: To analyse natural course and perinatal management in twin pregnancies discordant for digynic triploidy.

Case Report: We present five cases of twins discordant for digynic triploidy. Pregnancy outcome was known for three of them.

Small mutations in Duchenne/Becker muscular dystrophy in 164 unrelated Polish patients.

In the 164 patients with Duchenne/Becker muscular dystrophy, we found 142 different small mutations including 51 novel mutations not listed in the LOVD, the UMD-DMD, the ClinVar, and the HGMD databases. Among all mutations, nonsense mutations occurred in 45.7%, frameshift mutations in 32.

Usefulness of methylation-specific multiplex ligation-dependent probe amplification for identification of parental origin of triploidy.

Triploidy is a genetic aberration resulting from an extra haploid set of chromosomes of paternal (diandric) or maternal (digynic) origin. Diandric cases, opposite to digynic ones, may lead to gestational trophoblastic neoplasia (GTN) or generate maternal complications, therefore their identification is crucial, but reproducibility of traditionally used histopathological assessment is poor. The aim of the study was to analyse the usefulness of methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) with probes for two differentially methylated regions (DMR) at chromosome 11p.

Deletions, not duplications or small mutations, are the predominante new mutations in the dystrophin gene.

Examination of the carrier state was performed in 744 unrelated mothers of the Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) probands with identified mutations in the dystrophin gene. Owing to that it was possible to assess frequency and type of new mutations in the gene. Contrary to the Japanese observations of Lee et al.

Prenatal diagnosis of Duchenne and Becker muscular dystrophies: Underestimated problem of the secondary prevention of monogenetic disorders.

Aim: The aim of this study was to analyze the influence of effective preconceptional testing for carrier status in women at risk for Duchenne and Becker muscular dystrophies (D/BMD) on the prenatal diagnosis.

Methods: A retrospective analysis of 201 prenatal tests was performed in 169 Polish women at risk, in regard to time of testing for carrier status (prior to conception or during pregnancy) and carrier status of tested women, including confirmed D/BMD carriers (n = 78; 46.2%), D/BMD non-carriers - tested for germline mosaicism risk (n = 23; 13.

A rare subclinical or mild type of Becker muscular dystrophy caused by a single exon 48 deletion of the dystrophin gene.

In the material of 227 families with Becker muscular dystrophy (BMD), we found nine non-consanguineous families with 17 male individuals carrying a rare mutation-a single exon 48 deletion of the dystrophin gene-who were affected with a very mild or subclinical form of BMD. They were usually detected thanks to accidental findings of elevated serum creatine phosphokinase (sCPK). A thorough clinical analysis of the carriers, both children (12) and adults (5), revealed in some of them muscle hypotonia (10/17) and/or very mild muscle weakness (9/17), as well as decreased tendon reflexes (6/17).

Impaired social cognition processes in Asperger syndrome and anorexia nervosa. In search for endophenotypes of social cognition.

A growing number of publications indicates presence of significant deficits in social cognition in patients with anorexia nervosa (AN). These deficits appear to be comparable in qualitative and quantitative dimension with impairment of the same functions among people with Asperger syndrome (AS). The aim of this study is to identify subject areas in the field of impairment of social cognition processes among people with Asperger syndrome and anorexia nervosa taking into consideration the potential contribution of genetic pathways of oxytocin and vasopressin in the pathogenesis of these diseases.

MLPA based detection of mutations in the dystrophin gene of 180 Polish families with Duchenne/Becker muscular dystrophy.

Duchenne/Becker muscular dystrophy (DMD/BMD) is a recessive, X-linked disorder caused by a mutation in the dystrophin gene. Deletions account for approximately 60-65% of mutations, duplications for 5-10%. The remaining cases are mainly point mutations.

Novel point mutations in survival motor neuron 1 gene expand the spectrum of phenotypes observed in spinal muscular atrophy patients.

The aim of our study was to identify point mutations in a group of 606 patients diagnosed for spinal muscular atrophy with excluded biallelic loss of the SMN1 gene. Point missense mutations or small deletions in the SMN1 gene were ultimately identified in 18 patients. Six patients were found to have small deletions, the c.

[Non-invasive prenatal diagnosis of the most common aneuploidies with cell-free fetal DNA in maternal serum--preliminary results].

Objectives: The aim of the study was to present initial results of non-invasive prenatal diagnosis of common aneuploidies of chromosomes 21, 18 and 13 based on cell-free fetal DNA in maternal serum in high-risk patients, and to compare the results with routine karyotyping.

Material And Methods: Before the invasive procedure, 10 ml of peripheral blood from 10 patients was collected to isolate cell-free fetal DNA and to perform a non-invasive fetal trisomy test (NIFTY provided by Beijing Genomics Institute, BGI, Shenzen, China).

Results: Three out of 10 samples showed an abnormal karyotype in traditional karyotyping.

[Noninvasive prenatal diagnosis of trisomy 21, 18 and 13 using cell-free fetal DNA].

Trisomy 21, 18 and 13 are the most common trisomies diagnosed in newborns. Screening methods consist of ultrasound and maternal serum markers. High risk for fetal aneuploidies is an indication for routine karyotyping, which requires collection of fetal tissue through amniocentesis or chorionic villous sampling.

Multiplex ligation-dependent probe amplification (MLPA)--new possibilities of prenatal diagnosis.

Multiplex Ligation-dependent Probe Amplification (MLPA) is a relatively new method of molecular diagnosis. It enables a relative quantitative assessment of up to 50 different PCR amplicons in one reaction by the use of a very small amount of examined DNA. Nowadays MLPA is becoming a very helpful tool in prenatal diagnosis and is widely used for the detection of aneuploidies, familial single gene disorders, common microdeletion syndromes, sub-telomeric alterations and identification of marker chromosomes in fetuses.

[Detection of rare mutations in the dystrophin gene].

Introduction: Duchenne/Becker muscular dystrophies (DMD/BMD) are allelic X-linked, recessive proximal muscle disorders, caused by mutations in the dystrophin gene located in Xp21. DMD occurs with the incidence 1:3500, BMD with the incidence of 1:18,500 new-born males. Approximately about 60% of mutations in the dystrophin gene are deletions, 10%--duplications and 30%--point mutations.

[Carrier detection in Duchenne/Becker muscular dystrophy in the families in which the DNA of the affected person is not available].

Introduction: Duchenne muscular dystrophy (DMD) is a severe, progressive, X-linked muscular disease, which affects 1 in 3500 male newborns. The course of the other allelic form of the disease (Becker muscular dystrophy--BMD) is milder. Female relatives of affected subjects may carry the mutated gene.

[The use of non-typical materials as a source of DNA in post-mortem diagnosis of spinal muscular atrophy].

Background And Purpose: Patients affected with SMA I usually die in early childhood before the end of the second year of life. Clinical diagnosis is often doubtful--without any molecular verification--and isolated DNA is not available. In such cases predicting the outcome of consecutive pregnancies is not possible.