scholarly journals Monozygotic twins discordant for homologous Robertsonian translocation trisomy 21 of 46, XX, + 21, der (21;21) (q10; q10) in a twin-to-twin transfusion syndrome, case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Dingya Cao ◽  
Jimei Sun ◽  
Nan Li ◽  
Zhihua Li ◽  
Weiqiang Liu ◽  
...  
Keyword(s):  
Trisomy 21 ◽  
Robertsonian Translocation ◽  
Ultrasound Examination ◽  
Transvaginal Ultrasound ◽  
Monozygotic Twins ◽  
Nuchal Translucency ◽  
Congenital Diseases ◽  
Ultrasound Findings ◽  
Additional Chromosome ◽  
History Of

Abstract Background Monozygotic twins are nearly identical in genotype and phenotype because monozygotic twins arise from one fertilized oocyte. In all cases of discordant karyotype in monozygotic twins, trisomy 21 accounts for about one in 385,000. Monozygotic twins discordant for Robertsonian translocation trisomy 21 of the der (21;21)(q10;q10), in which the additional chromosome originates from the father is rare. Case presentation A 28-year-old parous woman, G3P1A0, came to our institution for a dating scan at 8 weeks of gestation. The transvaginal ultrasound examination demonstrated a monochorionic diamniotic pregnancy. She and her husband were healthy, with no family history of trisomy 21 or other congenital diseases. The ultrasound examination of nuchal translucency thickness was discordant in twins at 13 weeks (twin A, NT 1.4 mm with CRL being 65 mm; twin B, NT 7.8 mm with CRL being 69 mm). At 17+ 4 weeks, twin A was normal, but ventricular septal defect and the hypoplastic left heart was detected in twin B. The deepest vertical pocket was 18 mm in twin A (oligohydramnios) and 102 mm in Twin B (polyhydramnios). The bladder in twin A was absent. Ultrasound findings indicated TTTS Stage II. Amniocentesis was performed for the two fetuses. The karyotyping results revealed 46, XX in twin A but 46,XX,+ 21,der (21;21)(q10;q10) in twin B. For twin B, the parents opted for selective fetal termination by radiofrequency ablation. The procedure was uneventful. At 40+ 5 weeks, twin A was born with a birth weight of 4120 g by vaginal delivery. Conclusions The early detection of discordant karyotype and twin-to-twin transfusion syndrome is beneficial to the early intervention. In monozygotic twins with a discordant anomaly, the discordant karyotype should be considered.

scholarly journals KEHAMILAN ANEMBRIONIK PADA PRIMIGRAVIDA : SEBUAH TINJAUAN KASUS

2018 ◽  
Vol 18 (2) ◽  
pp. 110-114
Author(s):  
Cut Meurah Yeni ◽  
Muhammad Bayu Z Hutagalung ◽  
Dwinka S. Eljatin ◽  
Alyani A. Basar
Keyword(s):  
Vaginal Bleeding ◽  
Genetic Factors ◽  
Ultrasound Examination ◽  
Transvaginal Ultrasound ◽  
Clinical Manifestations ◽  
Dilation And Curettage ◽  
Hormonal Dysfunction ◽  
History Of ◽  
Gestational Sac ◽  
Anembryonic Pregnancy

Abstrak. Sebuah kasus, wanita berusia 22 tahun hamil 8-9 minggu dengan keluhan perdarahan pervaginam sejak 1 sebelum masuk rumas sakit (RS). Pemeriksaan ultrasonografi menunjukkan gambaran kantung gestasi tanpa pertumbuhan embrio dengan usia kehamilan 8 minggu. Terminasi kehamilan pada kasus ini dilakukan dengan metode dilatasi dan kuretase. Kehamilan anemebrionik merupakan salah satu bentuk kegagalan dalam kehamilan. Diperkirakan 10-15% hasil konsepsi tidak viabel dan akan mengalami abortus dan 3% diantaranya merupakan kehamilan anembrionik. Manifestasi klinis pada kasus ini meliputi riwayat amenorea, tanda-tanda kehamilan muda serta perdarahan pervaginam pada tahap akhir perjalananya. Berbagai faktor secara teoritis dikaitkan dengan kehamilan embrionik meliputi; faktor genetik paternal dan maternal, disfungsi hormonal serta infeksi dan kelainan imunologi. Kehamilan embrionik dapat ditegakkan melalui pemeriksaan ultrasonografi transabdominal maupun transvaginal dengan ditemukannnya kantung gestasi tanpa perkembangan embrio pada minggu 6-10 kehamilan. Kata Kunci: Kehamilan anembrionik, kuretaseAbstract. A case, 22-year-old woman with 8-9 weeks gestational aged with complaints of vaginal bleeding one day before hospital admission. Ultrasound examination showed a picture of gestational sac without embryo growth correspondent to 8 weeks gestational aged. Termination of pregnancy in this case was done by the method of dilation and curettage. Anembryonic Pregnancy is one form of failure in pregnancy. An estimated 10-15% of the pregnancy is not viable and will undergo abortion and 3% of it is anembryonic pregnancy. Clinical manifestations in this case includes a history of amenorrhea, signs of early pregnancy and vaginal bleeding at the final stage perjalananya. Various factors are theoretically associated with embryonic pregnancy include; paternal and maternal genetic factors, hormonal dysfunction, as well as infectious and immunological disorders. Embryonic Pregnancy can be enforced through a transabdominal or transvaginal ultrasound examination with detection of gestational sac without embryo development at 6-10 weeks gestation.Key words: Anembryonic pregnancy, curettage

scholarly journals THE INFORMATIVE VALUE OF PELVIC ULTRASONOGRAPHY IN RECURRENT EXTERNAL GENITAL ENDOMETRIOSIS

2021 ◽  
Vol 14 (5) ◽  
pp. 14-17
Author(s):  
FARAKH T. ALIEVA ◽  
◽  
DMITRY V. BRYUNIN ◽  
FIDAN T. ALIEVA ◽  
◽  
...  
Keyword(s):  
Ultrasound Examination ◽  
Inflammatory Diseases ◽  
Endometrial Thickness ◽  
Transvaginal Ultrasound ◽  
Ovarian Cysts ◽  
Pelvic Ultrasonography ◽  
Pelvic Peritoneum ◽  
Uterine Ligaments ◽  
History Of ◽  
Length Width

Background. In the structure of gynecological diseases, endometriosis ranks II after inflammatory diseases of the genitals and uterine myoma. The incidence of genital endometriosis is 92–94%, with an annual incidence ranging from 0,1% to 0,3%. The disease is characterized by tumor-like type of growth, affection of adjacent organs, and severe complications that lead to disability in patients. Aim. To study the informative value of ultrasound examination of the reproductive system organs in recurrent external genital endometriosis. Material and methods. Forty-eight patients with recurrent external genital endometriosis were examined. The mean age of the patients was (34,96±1,1) years. The history of endometriosis was in the range of (10,0±1,41) years (9–11). Recurrence rate averaged (2,02±0,44) years (1–4). The duration of remission averaged (6,1±0,84) years (1–15). All the patients underwent ultrasound examination with a transvaginal transducer. The length, width, anteroposterior uterine size, M-echo, and length and width of both ovaries were determined. Echographic features of endometrioid ovarian cysts and retrocervical endometrioid infiltrate were evaluated during ultrasound examination. The findings were compared with the echographic findings in women (n=20) with no history of endometriosis (comparison group). Results and discussion. Transvaginal ultrasonography in recurrent external genital endometriosis showed a significant increase in the echographic dimensions of uterine length (54,3±0,41) mm, width (47,9±0,13) mm, anteroposterior dimension (56,1±0,18) mm, endometrial thickness (6,6±0,09) mm, and increased echographic dimensions of both ovaries (p<0,05). Transvaginal ultrasound examination is informative in the diagnosis of endometrioid ovarian cysts. In 75,6% of patients, it manifests as a fluid mass with a heterogeneous suspension. In 75% of patients, retrocervical endometrioid infiltrate manifests as a heterogeneous, hypoechogenic, painful mass located behind the uterus. Conclusion. Transvaginal ultrasound is informative in the diagnosis of endometrioid ovarian cysts. Echographic diagnosis of endometrioid infiltrates of the vesicoureteral peritoneal fold, sacroiliac, broad uterine ligaments, and pelvic peritoneum presents difficulties, which justifies the necessity of laparoscopic diagnosis.

scholarly journals Kehamilan Pada Jejas Luka Sesar: Diagnosis Yang Akurat Dan Keberhasilan Dalam Tatalaksana Secara Konservatif

2020 ◽  
Vol 4 (1) ◽  
pp. 114-119
Author(s):  
Satrio Budhi Purnomo ◽  
Dovy Djanas
Keyword(s):  
Ectopic Pregnancy ◽  
Conservative Therapy ◽  
Ultrasound Examination ◽  
Transvaginal Ultrasound ◽  
Bladder Wall ◽  
Cervical Canal ◽  
Intrauterine Pregnancy ◽  
Cesarean Scar ◽  
Life Threatening ◽  
History Of

Reported case in a woman aged 30 years, with a history of cesarean scar four years ago, diagnosed with gravid two by one gravid 7-8 weeks with gestation on cesarean scar. The patient had a history of accidental trauma two days prior to the complaint of bleeding from the genitals. Several obstetricians have examined but still obtained different results (intrauterine pregnancy and ectopic pregnancy). An accurate diagnosis is critical to the success of the management of a patient with a pregnancy with this life-threatening cesarean scar. With a precise and accurate transvaginal ultrasound examination, the diagnostic criteria with ultrasound on previous surgical scars have been fulfilled in this patient, including an empty uterus, an empty cervical canal image, growth of a gestational pouch in the anterior lower segment of the uterus, and the absence of myometral image between the bladder wall and the gestational pocket. On B-HCG examination, the result was 58,808.70 mlU / mL. Conservative therapy with metrotrexate (MTX) 50 mg / m2 intramuscularly. After giving metrotrexate (MTX) therapy for four times, the results of B-HCG decreased significantly with 21.530, 12 mlU / mL, 2,949.47 mlU / mL, and 593.61 mlU / mL, respectively. After administration of metrotrexate (MTX) therapy, there was a decrease in the size of the gestational bag. Keywords: Ectopic, Pregnancy, Methotrexate, Cesarean Section

Prenatal Diagnosis of Trisomy 21 in Monozygotic Twins with Increased Nuchal Translucency and Abnormal Serum Biochemistry

1997 ◽  
Vol 12 (3) ◽  
pp. 153-155 ◽  
Author(s):  
Stuart M. Verdin ◽  
Jeffrey M. Braithwaite ◽  
Kevin Spencer ◽  
Demetrios L. Economides
Keyword(s):  
Prenatal Diagnosis ◽  
Trisomy 21 ◽  
Monozygotic Twins ◽  
Nuchal Translucency ◽  
Serum Biochemistry ◽  
Increased Nuchal Translucency

scholarly journals Natural history of trisomy 21 fetuses with increased nuchal translucency thickness

1995 ◽  
Vol 5 (6) ◽  
pp. 381-383 ◽  
Author(s):  
P. P. Pandya ◽  
R. J. M. Snijders ◽  
S. Johnson ◽  
K. H. Nicolaides
Keyword(s):  
Natural History ◽  
Trisomy 21 ◽  
Nuchal Translucency ◽  
History Of ◽  
Increased Nuchal Translucency

scholarly journals ISTHMIC-CERVICAL INSUFFICIENCY IN THE STRUCTURE OF THE REASONS FOR MORTARING OF PREGNANCY

2020 ◽  
Vol 11 (1) ◽  
pp. 34-40
Author(s):  
A. A. Borschova ◽  
G M. Pertceva ◽  
N. A. Alekseeva
Keyword(s):  
Premature Birth ◽  
Ultrasound Examination ◽  
Inflammatory Diseases ◽  
Transvaginal Ultrasound ◽  
Cervical Insufficiency ◽  
Cardiovascular Pathology ◽  
Significant Difference ◽  
Inflammatory Processes ◽  
History Of ◽  
First And Second Generation

Objective: to identify the main causes that contribute to the occurrence of ischemic-cervical insufficiency.Materials and methods: a retrospective analysis of the course of pregnancy, childbirth, outcomes for the fetus in 158 women with ischemic-cervical insufficiency was performed. All pregnant women, except for general clinical examination, underwent transvaginal ultrasound examination of the cervix.Results: of 158 women with isthmic-cervical insufficiency, there were 71 first-born (44.94 %), and 87 second-born (55.06 %). In the history of these women, 64 (40.51 %) had inflammatory processes of the female genitals, 38 (24.05 %) had extragenital pathology (cardiovascular diseases), 36 (22.78 %) were obese, 13 (8.23 %) had cervical erosion, and only 7 (4.43 %) had a favorable history. The diagnosis of ICN was established by a combination of data from vaginal and transvaginal ultrasound examination of the cervix. Correction of this pathology was carried out by applying a pessary to the cervix. Conclusion: we did not find a statistically significant difference between the occurrence, causes, and manifestation of clinical data in both first-and second-generation women. Among the causes of PPI, both in the first and second clinical groups, inflammatory diseases of the female genitals, cardiovascular pathology and obesity predominate. Early diagnosis of PPI reduces the risk of premature birth, reduces the percentage of premature birth, and contributes to the birth of children during full-term pregnancy.

‘The Stuff of Slow Constitution’: Reading Down Syndrome for Race, Disability, and the Timing that Makes Them So

Somatechnics ◽  
2016 ◽  
Vol 6 (2) ◽  
pp. 235-248 ◽  
Author(s):  
Mel Y. Chen
Keyword(s):  
Down Syndrome ◽  
Trisomy 21 ◽  
Historical Perspective ◽  
Early History ◽  
Present Moment ◽  
History Of ◽  
Living Being

In this paper I would like to bring into historical perspective the interrelation of several notions such as race and disability, which at the present moment seem to risk, especially in the fixing language of diversity, being institutionalised as orthogonal in nature to one another rather than co-constitutive. I bring these notions into historical clarity primarily through the early history of what is today known as Down Syndrome or Trisomy 21, but in 1866 was given the name ‘mongoloid idiocy’ by English physician John Langdon Down. In order to examine the complexity of these notions, I explore the idea of ‘slow’ populations in development, the idea of a material(ist) constitution of a living being, the ‘fit’ or aptness of environmental biochemistries broadly construed, and, finally, the germinal interarticulation of race and disability – an ensemble that continues to commutatively enflesh each of these notions in their turn.

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