WES-based screening of 7,000 newborns: A pilot study in Russia.

The effective implementation of whole-exome sequencing- and whole-genome sequencing-based diagnostics in the management of children affected with genetic diseases and the rapid decrease in the cost of next-generation sequencing (NGS) enables the expansion of this method to newborn genetic screening programs. Such NGS-based screening greatly increases the number of diseases that can be detected compared to conventional newborn screening, as the latter is aimed at early detection of a limited number of inborn diseases. Moreover, genetic testing provides new possibilities for family members of the proband, as many variants responsible for adult-onset conditions are inherited from the parents.

Procoagulant Activity in Amniotic Fluid Is Associated with Fetal-Derived Extracellular Vesicles.

Procoagulant activity in amniotic fluid (AF) is positively correlated with phosphatidylserine (PS) and tissue factor (TF)-expressing(+) extracellular vesicles (EVs). However, it is unknown if pathological fetal conditions may affect the composition, phenotype, and procoagulant potency of EVs in AF. We sought to evaluate EV-dependent procoagulant activity in AF from pregnant people with fetuses with or without diagnosed chromosomal mutations.

Two Novel Mutations Associated With Ataxia-Telangiectasia Identified Using an Ion AmpliSeq Inherited Disease Panel.

Ataxia-telangiectasia (A-T), or Louis-Bar syndrome, is a rare neurodegenerative disorder associated with immunodeficiency. For families with at least one affected child, timely A-T genotyping during any subsequent pregnancy allows the parents to make an informed decision about whether to continue to term when the fetus is affected. Mutations in the gene, which is 150 kb long, give rise to A-T; more than 600 pathogenic variants in have been characterized since 1990 and new mutations continue to be discovered annually.

In silico size selection is effective in reducing false positive NIPS cases of monosomy X that are due to maternal mosaic monosomy X.

Objectives: The aim of this study was to establish maternal contribution to false positive noninvasive prenatal DNA screening (NIPS) results and develop the method to distinguish maternal and fetal origin of high-risk monosomy X NIPS calls including mosaic maternal cases.

Method: A total of 906 women carrying singleton pregnancies have been recruited. Maternal plasma DNA semiconductor massive parallel sequencing was performed to detect common aneuploidies.

[Diffusion Capacity of the Lung and Maladaptive Post-Infarction Remodeling of the Heart].

Objective: To assess the association of the lowering of diffusion capacity of the lung and maladaptive remodeling of the heart in a year after myocardial infarction (MI).

Materials And Methods: We included into this study 107 patients with ST elevation MI (STEMI). Examination of all patients on 7-12 th days included echocardiography (echoCG), spirography, body plethysmography, and determination of lung diffusion capacity.

[Methods for obtaining fetal blood and its characterization].

Fetal blood was collected in 83 women, 71 of these before abortions and in 12 of them with diagnostic purpose. Cardiocentesis was used in 31 cases, cordocentesis in 52. Obstetrical situation was analyzed and fetal heart beat recorded during the procedure.

[Value of early amniocentesis for prenatal diagnosis in the first trimester of pregnancy].

For the prenatal diagnosis of the fetal status, amniocentesis was performed in 9-12-week pregnancy in 31 females at risk for birth of a baby with chromosomal abnormalities and congenital malformations of the central nervous system. There were no difficulties in carrying out the procedure. A balanced translocation-bearing female was found to have a fetal chromosomal abnormality.

[Ways of reducing perinatal morbidity and mortality due to hereditary pathology].

The paper presents different ways of preventing the perinatal morbidity and mortality due to genetically predisposed abnormalities, such as environmental protection; definition of the factors having a mutagenic influence on the female; family planning, medico-genetic advisory. It also outlines the methods of perinatal diagnosis, which is now the most effective tool for birth prophylaxis of a baby with a hereditary abnormality.

[Medical history of female carriers of chromosome aberrations].

The incidence of extragenital and gynecologic diseases, surgical procedures and menstrual, gestational and family histories have been evaluated in 50 female carriers of balanced chromosomal rearrangements (index group) and 33 women without karyotype abnormalities (control group). This study provided criteria for karyotype testing in women. Counseling guidelines were recommended for female carriage of chromosomal anomalies.

[Artificial late abortion for medical genetic indications].

Late abortions have been induced for genetic indications in 96 women using intra-amniotic administration of 20% sodium chloride or Enzaprost. The results were compared within this group and with a control group of 90 women whose pregnancies were terminated for other indications at similar dates and with the same agents. The use of 20% sodium chloride was associated with significantly higher blood loss and greater lengths of abortions.

[Evaluation of diagnostic potential of various methods of chorionic sampling in the first trimester of pregnancy].

Potentials of the most common chorionic sampling methods have been examined: transcervical biopsy (TCB) (n-65), transcervical aspiration (TCA) (n-63) and transabdominal aspiration (TAA) (n-10). These procedures were done in outpatient settings at 6-12 week's gestation with sonographic guidance using accepted methodologies. TCB and TCA yielded 14.

[The prenatal diagnosis of Herlitz's borderline epidermolysis bullosa letalis].

Methods of morphologic prenatal diagnosis permit optimizing the medicogenetic prognosis thus preventing the birth of patients with severe incurable forms of congenital bullous epidermolysis and preserve normal pregnancy in risk-group females. Studies on the estimation of the prognostic and prophylactic value of methods for the prenatal diagnosis of congenital dermatoses are necessary.

Fetal skin biopsy in prenatal diagnosis of some genodermatoses.

Various methods of obtaining fetal skin for prenatal diagnosis of certain autosomal-recessive congenital genodermatoses have been assessed. An attempt was made to obtain fetal skin by fetoscopy in 15 patients prior to pregnancy termination for a variety of medical reasons at 18-26 weeks. Specimens were obtained only in five cases (8 successful attempts out of 48).

[The obstetrical aspects of amniocentesis and chorionic biopsy].

Threatened abortion, a history of operation or tumor-like masses of the uterus and adnexa were seen in 70 women who underwent amniocentesis or chorionic villus sampling for prenatal diagnosis. A control group comprised 40 women with similar obstetric risks who refused to have the invasive studies done. Evidence has been obtained to indicate that, with certain provisions, amniocentesis and chorionic villus sampling may be employed in situations which are regarded as contraindications.

[Prenatal diagnosis of several hereditary skin diseases].

Twenty-two control women and 5 women at risk for delivering a baby with Brocq's ichthyosiform erythroderma or fatal epidermolysis bullosa were investigated in order to make prenatal diagnosis of inherited fetal skin diseases. Fetal skin abnormalities were detected in 3 of the 5 high-risk patients, and their pregnancies were terminated. There was a spontaneous abortion with a normal fetus in 1 case.