Генетическое исследование при замершей беременности

Какое исследование - НАЗВАНИЕ - необходимо провести мужчине и женщине при неоднократно замершей беременности ?
Слышала, что надо провести:
1. Женщине
- исследование кариотипа
- определение частоты спонтанных хромосомных аббераций
2. Мужчине
- исследование кариотипа
- исследование микроделеций AZT локуса в Y хромосоме
Полный ли это список или можно к этому еще что то добавить ?
Спасибо.

[Dr.Vad]

Может, что здесь найдете для себя полезного:
Prenat Diagn 2000 Mar;20(3):190-3
Fetoplacental chromosomal discrepancy.
Farra C, Giudicelli B, Pellissier MC, Philip N, Piquet C.
Center for Prenatal Diagnosis, La Timone Hospital, 13385 Marseilles, Cedex 5, France.
Chorionic villus sampling is now an acceptable alternative to second trimester amniocentesis. Several reports have raised concerns about the occurrence of discrepancies between the chorionic villi and fetal chromosomal constitution, which adds multiple diagnostic complexities to the process of prenatal genetic counselling. We report on a series of 26 cases in which fetoplacental discrepancies have occurred. The chromosomal aberration was exclusively confined to the placenta in 21 cases. Twice the identical aberration was also observed in amniotic fluid with variant range of aneuploidy. The chromosomal abnormality was found in amniotic fluid and fetal blood samples in two cases, and was absent in chorionic villi. One case had very unusual cytogenetic findings as two different non-mosaic chromosomal abnormalities were identified separately in the placenta and amniocytes. Among the 21 gestations with confined placental abnormal karyotype, three cases of intrauterine growth retardation were identified. Of six cases evaluated for uniparental disomy, four demonstrated biparental inheritance. These findings support a positive correlation between placental aneuploidy and abnormal fetal development. They also emphasize the importance of further DNA analysis whenever discrepant karyotype findings between the placenta and amniocytes are identified.

Eur J Hum Genet 2001 Jul;9(7):539-47
Cytogenetic analyses of culture failures by comparative genomic hybridisation (CGH)-Re-evaluation of chromosome aberration rates in early spontaneous abortions.
Fritz B, Hallermann C, Olert J, Fuchs B, Bruns M, Aslan M, Schmidt S, Coerdt W, Muntefering H, Rehder H.
Institut fur Klinische Genetik, Philipps-Universitat Marburg, Germany. [Ссылки доступны только зарегистрированным пользователям ]
Comparative genomic hybridisation (CGH) represents an alternative molecular-cytogenetic technique capable of detecting chromosomal imbalances by reverse fluorescence in situ hybridisation. As the technique uses genomic DNA for assessment it does not rely on metaphase chromosomes in the test material and thus circumvents technical problems associated with tissue culturing. In the present study, we applied CGH to identify chromosome anomalies in 60 spontaneous abortions of the first trimester, that had failed to grow in culture. In 57 out of 60 cases CGH analyses were successful. The overall aneuploidy rate detected was 72%. Trisomy was the predominant chromosome anomaly accounting for 68.0% of abnormal abortions, followed by triploidy (17.1%) and monosomy X (9.8%). An unbalanced structural rearrangement was found in one (2.4%) abortion. Most frequently involved in trisomies were chromosomes 16 (32.1%), 7 and 22 (10.7% each), 4, 13, 15, and 21 (7.2 % each). Three triploid cases and one complete mole were detected by microsatellite analysis as supplementary method. CGH data on culture failures were compared with data derived from 4693 successfully karyotyped first trimester spontaneous abortions, resulting in a chromosome aberration rate of 64.8%. The distribution of the different chromosome anomalies was similar with the exception of a higher rate of trisomies 7 and of XYY-triploidies in the culture failures. Based on our data we suggest that the genetic contribution to pregnancy loss is still underestimated. Investigating abortion tissues hitherto unassessed by conventional methods, we suggest that the contribution of chromosome aberrations to first trimester pregnancy loss is nearly 70%.

Prenat Diagn 2003 Jan;23(1):40-3
Prenatal diagnosis of mosaic ring chromosome 22 associated with cardiovascular abnormalities and intrauterine growth restriction.
Chen CP, Chern SR, Chang TY, Lee CC, Chen LF, Tzen CY, Wang W, Lin CJ, Yang BP, Yang LS.
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China.
OBJECTIVES: To present the prenatal diagnosis and perinatal findings of mosaic ring chromosome 22. CASE: Amniocentesis was performed at 18 gestational weeks because of an advanced maternal age. Cytogenetic analysis of the cultured amniotic fluid cells revealed mosaicism for ring chromosome 22, 45,XX,-22[6]/46,XX,r(22)(p13q13.31)[15]. Abnormal fetal sonographic findings included small for gestational age, a ventricular septal defect, and truncus arteriosus. The pregnancy was terminated. Additional phenotypic findings included hypertelorism, epicanthal folds, and abnormal ears. Cytogenetic analysis of the cord blood lymphocytes revealed a complex mosaic karyotype, 45,XX,-22[7]/46,XX,r(22)(p13q13.31)[82]/46,XX,idic r(22)(p13q13.31;p13q13.31)[11]. Cytogenetic analysis of the hepatocytes also revealed mosaic r(22) with mosaicism for idic r(22) and monosomy 22. The deletion of distal 22q and the duplication of 22q11.2 on idic r(22), and the distal 22q deletion on r(22) were demonstrated by fluorescent in situ hybridization (FISH) analysis using 22q terminal probes at 22q13 and a DiGeorge syndrome critical region probe at 22q11.2. The breakpoint on distal 22q13 and the extent of the duplication of 22q on idic r(22) was determined by examining polymorphic markers specific for chromosome 22 using quantitative fluorescent polymerase chain reaction assays. The chromosomal aberration was of maternal origin. CONCLUSION: Molecular and FISH studies allow a better delineation of some prenatally detected aneuploidy syndromes and help elucidate the genetic pathogenesis. Fetuses having mosaic r(22) with a low level mosaicism for r(22) duplication/deletion may present cardiovascular abnormalities and intrauterine growth restriction on prenatal ultrasound.

[Viacheslav]

Опубликовано: YBLOKO
Какое исследование - НАЗВАНИЕ - необходимо провести мужчине и женщине при неоднократно замершей беременности ?
Слышала, что надо провести:
1. Женщине
- исследование кариотипа
- определение частоты спонтанных хромосомных аббераций
2. Мужчине
- исследование кариотипа
- исследование микроделеций AZT локуса в Y хромосоме
Полный ли это список или можно к этому еще что то добавить ?
Спасибо.

Могу еще добавить, что нужно (можно) посмотреть С-гетерохроматиновые регионы хромосом (часто встречаются инверсии гетерохроматина -в особенности 9 хромосомы, либо его увеличение).
И наверное не AZT а AZF локус Y хромосомы?

В анамнезе невынашивание беременности - 2 выкидыша.Обследована полностью.Осталось генетическое исследование.Сдала вместе с мужем анализ на HLA 1 класса,норма.Сейчас сдала вместе с мужем HLA 2 класса, результаты -

Я
DRB1 - 07,15
DQA1 - 0201,0102
DQB1 - 0201,0602-8

Муж
DRB1 - 08,13
DQA1 - 0401,0102
DQB1 - 0401/2,0602-8

Вопрос - все ли здесь в норме?

[Лола]

Вроде в норме, а почему не спросишь у врача где сдавла?