Medical and genetic consultation
Head of the MGK, a geneticist of the highest qualification category, Zinaida Nelyubova. Excellent student of health care. General medical experience-43 years, experience in genetics-more than 25 years
Doctor-geneticist of the highest qualification category Shcherbina Inna Ivanovna. Work experience-more than 17 years.
Medical-genetic service is a specialized type of medical care for the population, aimed at the prevention of congenital and hereditary pathology.
The medical and genetic consultation in the Lipetsk region was established to improve the quality of providing specialized medical and genetic care to the population of the region in accordance with the order of the Ministry of Health of the Russian Federation No. 316 of 30.12.93 "On the further development of the medical and genetic service of the Ministry of Health of the Russian Federation". In fact, the MGK began its work under the new order from 12.09.1994 and until 25.01.04 was a structural division of the GUZ "ODB", from 26.01.04 – GUZ" LOKB", from 1.11.07 and to the present time is part of the structure of the GUZ"LOPTS". The MGK is located at the address ul. Gagarina, 135, in the same building with the GUZ "CPBS and IZ", after the reconstruction of the old building of the GUZ "LOPTS", it is planned to be located on the 1st floor of the old building. The MGK has in its composition:
A. An advisory department (or department of medical and genetic counseling), where patients and their families are consulted by geneticists for various reasons:
1. In order to clarify the diagnosis and exclude the genetic causes of pathology in patients of any age and gender, by referral of doctors of any specialties in the following cases:
- multiple family members have similar symptoms or illnesses
- delayed physical development or accelerated physical development in children
- delayed puberty or premature puberty
- violation of sexual differentiation, gynecomastia, hypogenitalism, hypospadias, cryptorchidism, other malformations of the genital organs
- delayed psychomotor or speech development in children, especially when combined with unusual phenotype features
- unusual smell or color of urine in children
- loss of acquired skills by children ("reverse" development)
- the presence of single or multiple congenital malformations of any organs and systems (congenital malformations, congenital malformations)
- the presence of phenotypic features of the structure of the face, skull, trunk, limbs
- the presence of dysplastic developmental features in combination with other pathological signs (strangeness of behavior, convulsive syndrome, obesity or malnutrition, impaired vision, hearing)
- primary infertility in spouses
- primary amenorrhea or dysmenorrhea
- recurrent miscarriage (2 or more spontaneous miscarriages or 2 or more missed pregnancies in 1 trimester)
- intolerance to many drugs and food
- patients with hereditary pathology or developmental defects before examination in the BMSE (primary and repeated)
- patients who are actively called for an appointment based on the results of neonatal screening (increase in indicators) or for a follow-up examination after an initial consultation with a geneticist in one of the health care facilities
- if there is a suspicion among medical specialists of any profile for the presence of hereditary pathology in patients
2.In order to predict offspring to determine the risk of having sick children in the following cases:
- the presence in the family of patients with hereditary diseases, chromosomal pathology, congenital malformations, MVPR
- the presence in the family of diseases with a hereditary predisposition (multifactorial or polygenic)
- repeated cases of stillbirth in the absence of obstetric causes
- consanguineous marriages
- after termination of pregnancy for congenital malformations (MMPs) or chromosomal abnormalities in the fetus
- ideally, any families planning childbirth
3.In order to predict pregnancy in the following cases:
- if the age of the pregnant woman is over 35 or under 18
- if the husband's age is over 50 years old
- if a pregnant woman suffers from oligophrenia
- if a pregnant woman or her spouse has congenital malformations or hereditary pathology
- contact of a pregnant woman in the 1st trimester with conditionally teratogenic factors (occupational hazards, viral infections, taking potent drugs, bad habits, X-ray of the pelvic organs, hip joints, kidneys, abdominal cavity)
- if the pregnant woman got registered late at the w / c and did not undergo prenatal screening in the 1st trimester
- if a pregnant woman is in a high risk group for chromosomal abnormalities in the fetus in the 1st trimester (the risk according to the Astraya computer program is higher than 1: 100 for the most frequent trisomies - 13, 18 and 21 chromosomes)
- to resolve the issue of referral of high-risk pregnant women for invasive diagnostics
- if the fetus has congenital malformations or ultrasound markers of chromosomal pathology during ultrasound
- to conduct a prenatal consultation and resolve the issue of prolonging or terminating pregnancy, depending on the severity of the identified pathology, the possibility of surgical correction and rehabilitation
In addition to medical and genetic counseling at the Moscow City Clinical Hospital, geneticists go for consultations to any health care facility in Lipetsk at the request of doctors if patients suspect a genetic pathology. Most often, applications come from the ODB State Healthcare Institution from neonatologists, pediatricians, neurologists, endocrinologists, resuscitators, surgeons, orthopedists, cardiologists, nephrologists, gastroenterologists, oncohematologists; from maternity hospitals from neonatologists, less often - from the City Children's Hospital, the LOCB and the KIB. If necessary, examinations of children are carried out in the Yelets specialized orphanage to exclude their congenital and hereditary pathology or in other specialized orphanages and boarding schools.
Geneticists are also present at postmortem autopsies in order to verify diagnoses in fetuses after termination of pregnancy for congenital malformations or CP or in children who died from congenital malformations and CP in maternity hospitals or children's hospitals.
Geneticists are engaged in monitoring the condition of patients with phenylketonuria (PKU) to control their physical and neuropsychic development and treatment of these patients - the calculation of specialized therapeutic nutrition that does not contain phenylalanine.
The MGK maintains a register of congenital and hereditary pathology, in which all diagnoses made in patients who have applied to the MGK or consulted in the regional healthcare facility are registered.
Since 1999, according to the order of the Ministry of Health of the Russian Federation, computer monitoring of congenital malformations in children has been carried out according to notifications sent from maternity wards, children's hospitals and polyclinics of the region. The main problem is the lack of geneticists - 2 individuals work - a doctor and the head of the Moscow City Conservatory, since 2013 we cannot find those wishing to become geneticists.
B. Cytogenetic laboratory - in which doctors - laboratory geneticists conduct the following types of research (as prescribed by a geneticist):
- study of sex chromatin in epithelial cells from the buccal mucosa in case of suspicion of numerical violations of the X chromosome (express analysis)
- study of the karyotype (chromosome set) in the blood of patients to exclude numerical and macrostructural rearrangements of chromosomes
- examination of the karyotype in fetuses in the fetal material (chorionic or placental villi and blood from the umbilical vein) after invasive procedures in pregnant women (chorionic villus aspiration, placentocentesis, cordocentesis) to exclude numerical and macrostructural chromosome rearrangements
- molecular cytogenetic DNA probe (FISH) - diagnostics for the most frequent trisomies - 13, 18, 21 and anomalies of sex (X and Y) - chromosomes
B. Laboratory of mass neonatal screening for 5 hereditary diseases - which receives forms with dried blood of newborns from all maternity hospitals and maternity wards of the Lipetsk region (about 13,500 annually) to exclude frequent autosomal recessive diseases in children by ELISA
(PKU-phenylketonuria, VH - congenital hypothyroidism, AGS - adrenogenital syndrome, CF - cystic fibrosis and galactosemia). Every year, from 4 to 8 sick children with these diseases are detected, which, thanks to early diagnosis, promptly begins specialized treatment. The treatment of patients with PKU is carried out by geneticists, patients with GV and AGS - endocrinologists, galactosemia - gastroenterologists, CF - pulmonologists and gastroenterologists. The coverage of newborn screening is 99.9%.
D. Laboratory for Selective Screening of Hereditary Metabolic Diseases (NBO) -
in which the following types of research are carried out:
- urinary screening (high-quality urine samples to exclude increased excretion of pathological metabolic products)
- biochemical blood tests for suspected hereditary metabolic diseases
- study of sweat chlorides in patients with suspected cystic fibrosis (with a 2-fold increase in IRT indicators - immunoreactive trypsin during neonatal screening or according to clinical indications).
- reception and consultation of a geneticist
- sex chromatin study
- karyotype study
- sweat chloride test
- urine test for urinary screening
The sweat analyzer "Nanodakt", which is available at the Moscow City Conservatory, is the only one in the region, unfortunately, it is not even in the State Healthcare Institution "ODB", therefore, if cystic fibrosis is suspected, patients from the Moscow City Clinical Hospital are sent to the Moscow City Clinical Hospital.
Due to the lack of a laboratory for molecular DNA diagnostics and confirmatory enzymatic diagnostics of hereditary metabolic diseases (NBD) in the Lipetsk region, geneticists refer patients to the Federal Medical Genetic Center (MGNTs) in St. Moscow. Since January 2017, in directions from regional MGKs, admission to MGNTs is carried out within the framework of compulsory medical insurance, under insurance policies.
If you suspect that patients have some orphan diseases, such as mucopolysaccharidosis, Gaucher disease, Pompe disease, Fabry disease, there is the possibility of taking blood for dry spots and free examination in the centers of Moscow (with the support of some companies engaged in the diagnosis and treatment of such patients , which have an agreement with the Federal Center for the examination of such patients).
Some examinations in various centers of Moscow are carried out exclusively on a commercial basis (tandem mass spectrometry for suspected NBO, DNA diagnostics of monogenic diseases, chromosomal microarray analysis to exclude microstructural rearrangements of chromosomes that cannot be diagnosed by conventional karyotyping, exome or genomic sequencing - study of all genes in the exome or genome), but with some centers the UZO entered into contracts and in the direction of the chief freelance medical geneticist and according to letters of guarantee from the UZO, patients are examined free of charge. Some patients with good financial resources, if they wish, pay for the examination themselves.
Reception at the Moscow Conservatory is from 8.00 to 15.30 every day, except weekends. Patients need to have a referral for a consultation from a doctor, an extract from the medical documentation (or an outpatient card), an insurance policy, a passport. MGK works in the conditions of compulsory medical insurance. For patients who applied without indications, without referrals, at their own request, from other regions or from commercial centers, there are paid services:
MGK coordinates :
398043 Lipetsk, Gagarin st., 135 (entrance from the yard), stop - st. Titov.
Phones: registry - 34-48-72,
head (Zinaida Gennadievna Nelyubova) - 34-20-78
laboratory and geneticist - 34-20-73
e-mail: genmed48@mail.ru
Head of the MGK GUZ "LOPTs",
chief freelance medical geneticist of the UZO - Nelyubova ZG.
