18 research outputs found
Birth outcomes of cases with different congenital heart defects - a population-based study
Background: In general, previous epidemiological studies evaluated congenital heart defects (CHDs) together. The aim of the present study was to identify possible etiological factors of different CHD-entities, because the underlying causes are unclear in the vast majority of patients.Objectives: Different CHD-entities as homogeneously as possible with confirmed diagnoses were analyzed in the population-based large dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities.Methods: 3,750 live-born singleton CHD-patients were analyzed according to birth outcomes, i.e. gestational age at delivery and birth weight, the rate of preterm birth, low birthweight and small for gestational age.Results: The major findings of the study showed that cases with different CHD-entities had shorter gestational age at delivery and lower mean birth weight, and these variables associated with a higher rate of preterm birth and particularly with a much higher rate of low birthweight and small for gestational age. This study showed the importance of sex in the birth outcomes of some CHD-entities. The question is why several CHD-entities manifested more frequently in newborns with intrauterine growth restriction because fetal heart has a passive role before birth without pulmonary circulation.Conclusions: The birth outcomes of cases indicate the effect of CHDs for fetal development. In addition maternal confounders have to consider. Finally, CHDs and intrauterine growth restriction as two developmental errors may have a common route, thus fetal growth and birthweight associated gene polymorphisms may have a role in the origin of CHDs.</jats:p
Birth outcomes of cases with conotruncal defects of heart - a population-based case-control study
Egészséges gyermek születése karyomapping eljárással történő preimplantációs genetikai diagnózist követően | Unaffected child born following preimplantation genetic diagnosis with karyomapping
Absztrakt:
Az asszisztált reprodukciós beavatkozáshoz kötötten elvégzett preimplantációs
genetikai diagnózis mára már egy elterjedt, befogadott módszer szerte a világon.
A karyomapping egy teljes genom haplotipizálásán alapuló módszer, ami egypontos
nukleotid polimorfizmus array segítségével képes monogénes megbetegedéseket
diagnosztizálni. Célunk a karyomapping mint embriódiagnosztikai módszer
bevezetése klinikánkon. Primer örökletes glaucomával született gyermek szülei
jelentkeztek klinikánkon preimplantációs genetikai diagnózis eljárással
kombinált in vitro fertilizációs kezelésre. Hat leszívott
petesejtből a három érett petesejt került megtermékenyítésre. A normális
termékenyülés jeleit egy zigóta mutatta, amit öt napig tenyésztettünk. Az ötödik
napon embrióbiopsziát végeztünk, és a mintát karyomapping eljárással értékeltük.
Az embriót heterozigóta hordozóként diagnosztizáltuk. Fagyasztott
embriótranszfer eredményeképpen a terhesség 39. hetében egészséges lánygyermek
született. A karyomapping eljárást mint preimplantációs genetikai diagnózis
módszert Magyarországon klinikánkon elsőként alkalmaztuk sikeresen. A módszer
bonyolult preklinikai előkészítés nélkül nagy megbízhatósággal alkalmas
monogénes megbetegedést okozó mutációk diagnosztizálására. Orv. Hetil., 2016,
157(51), 2048–2050.
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Abstract:
Preimplantation genetic diagnosis for single gene defects is a well established
method in assisted reproductive technologies. Karyomapping is a genome wide
parental haplotyping using a high density single nucleotide polymorphism array
that allows the diagnosis of any single gene defects. A couple with an affected
child with primary congenital glaucoma attended at our clinic. Six
oocyte-cumulus-complex was retrieved and all three mature oocytes were
inseminated. One zygote showed the signs of normal fertilization and was
cultured for five days. Trophectoderm biopsy and karyomapping analysis were
carried out. Result showed a heterozygous carrier for primary congenital
glaucoma. Embryo was thawed and transferred and a healthy girl was delivered at
term. Here we report the first live birth following in vitro
fertilization combined with preimplantation genetic diagnosis using karyomapping
in Hungary. Karyomapping is able to accurately detect single gene disorders from
a limited amount of samples without a significant preclinical workup. Orv.
Hetil., 2016, 157(51), 2048–2050
Endometrial polyps in infertility patients: The first study of their clinical characteristics
n/
Continuing to deliver: the evidence base for pre-implantation genetic screening
International audienc
A preimplantációs genetikai tesztelés 30 éve = Thirty years of preimplantation genetic testing
The Participation of Prospective Fathers in Preconception Care
We present the data of male participants in the Coordinating Center of the Hungarian Preconception Service (HPS), Budapest, 1984-2010. One of main objectives of the HPS was the incorporation of male partners of female participants into the preparation of childbirth. The HPS is based on three steps: (I) Reproductive health check-up. (II) A 3-month preparation for conception with the major determinants of the development of new life such as sex, health and/or some diseases. Smoking and illicit drug use cessation and limitation of alcohol intake was suggested in the male participants (III) to achieve optimal conception and better protection of early pregnancy. Pregnant women usually visit prenatal care clinics between the 7th and 12th gestational week when it is too late to reduce the risk of congenital abnormalities. Male participation in HPS will help to enhance use of appropriate preconception methods at the appropriate time
Egészséges gyermek születése karyomapping eljárással történő preimplantációs genetikai diagnózist követően
Miscellaneous. Beszámoló. KVÍZ
Beszámoló. „Természetes eredetű
hatóanyagok
a modern orvoslásban”
Országos Konferencia
Budapest, 2013. november 6–7. | EuroGentest workshop:
Validation of diagnostic
tests in clinical molecular
genetics
EuroGentest klinikai
molekuláris genetikai tesztek
validációs tanfolyama
Athén, 2013. november 21–22