Correlation of trisomy 13 with atelencephalic aprosencephaly

Pteridines ◽  
2015 ◽  
Vol 26 (1) ◽  
pp. 37-40
Author(s):  
Tanya Kitova ◽  
Borislav Kitov ◽  
Nahed Ben Cheikh ◽  
Soumeya Siala Gaigi
Keyword(s):  
Optic Nerve ◽  
Pregnancy Termination ◽  
Cerebral Hemispheres ◽  
Trisomy 13 ◽  
Brain Abnormality ◽  
Rare Phenotype ◽  
Gestational Week ◽  
Future Pregnancy ◽  
Hereditary Nature ◽  
Genotype Correlation

AbstractA rare phenotype-genotype correlation of atelencephalic aprosencephaly in a fetus with free trisomy 13 karyotype, obtained by pregnancy termination for holoprosencephaly during the 26th gestational week, is presented. Lack of cerebral hemispheres and presence of rudimentary diencephalon, brain stem and hypoplastic cerebellum were revealed. Agenesis of the eyeball, of the optic nerve and of the pyramids of the medulla oblongata was established. Skull and face examination found craniostenosis, microcephaly, cella turcica agenesis, cyclopia, cleft palate and nose agenesis.The correlation between the most common karyotype of trisomy 13 and the very rare brain abnormality atelencephalic aprosencephaly suggests that the study of parental karyotype is desirable to inform parents about its accidental and non-hereditary nature in a probable future pregnancy.

scholarly journals A Novel Marker for Purkinje Cells, KIAA0864 Protein. An Analysis Based on a Monoclonal Antibody HFB-16 in Developing Human Cerebellum

2005 ◽  
Vol 53 (4) ◽  
pp. 423-430 ◽  
Author(s):  
Yasuhiro Nakamura ◽  
Munehiko Yamamoto ◽  
Eriko Oda ◽  
Yonehiro Kanemura ◽  
Eri Kodama ◽  
...  
Keyword(s):  
Monoclonal Antibody ◽  
Purkinje Cells ◽  
Protein A ◽  
Nerve Fibers ◽  
Trisomy 13 ◽  
Immunohistochemical Markers ◽  
Human Cerebellum ◽  
Gestational Week ◽  
Granular Layers

In the search for immunohistochemical markers of the developing human brain, a monoclonal antibody, HFB-16, was raised against homogenates from the cerebrum of a 15-gestational-week-old (GW) human fetus and screened on paraffin-embedded human embryonic brain specimens. This antibody was particularly useful as a marker for Purkinje cells in the developing human cerebellum. Positive immunoreactivities with HFB-16 first appeared in the Purkinje cell layer at 17 GW. From 20 to 24 GW, positive immunoreactivities were found above the lamina dissecans. After 25 GW, dendrites of Purkinje cells were found with the HFB-16 antibody, and the nerve fibers of the Purkinje cells became positive after 35 GW. Neurons in the dentate nucleus and external and internal granular layers reacted negatively to this antibody. After 1 year, when the external granular layer faded out, the dendrites of the Purkinje cells reached the pial surface of the cerebellum, and nerve fibers began to develop in the white matter. This antibody was also useful for characterization of components in heterotopic neurons found in various anomaly syndromes such as trisomy 13. Expressional cloning indicated the antigen against HFB-16 to be human KIAA0864 protein, which is supposed to be an alternative splicing product of p116Rip, whose function has not yet been elucidated. The antigenicity of the KIAA0864 protein was confirmed using human cDNA of the KIAA0864 protein, a protein expression vector, and an HFB-16 antibody.

scholarly journals Performance of First-Trimester Screening between Gestational Weeks 7 and 13

2009 ◽  
Vol 55 (8) ◽  
pp. 1564-1567 ◽  
Author(s):  
Niels Tørring
Keyword(s):  
Blood Sample ◽  
Trisomy 21 ◽  
Detection Rate ◽  
First Trimester ◽  
Trisomy 13 ◽  
First Trimester Screening ◽  
Blood Samples ◽  
Before And After ◽  
Trimester Screening ◽  
Gestational Week

Abstract Background: Screening for fetal chromosome abnormalities in the first trimester includes analysis of the serological markers pregnancy-associated plasma protein A (PAPP-A) and free β human choriogonadotropin (free β hCG). The blood sample is traditionally taken around week 12 of gestation, but the performance of earlier blood sampling is not well documented. Methods: We studied 44 537 singleton pregnancies. Complete first-trimester screening took place between November 2003 and March 2009, and blood samples were taken between 7 weeks + 5 days and 13 weeks + 6 days. Results: Of 120 cases of trisomy 21, 108 were diagnosed in the first-trimester screening (detection rate 90%). When the blood sample was taken before gestational week 10, the detection rate of trisomy 21 was 97% (70 of 72), whereas 80% were detected (38 of 48) after week 10 (χ2 = 0.0035). For trisomy 18, trisomy 13, and triploidy, 65% (13 of 20) were detected before gestational week 10, and 73% (11 of 15) after (not significant). All 6 cases of triploidy before and after gestational week 10 were detected. The screen positive rate and the maternal age were similar before and after week 10 of gestation. Conclusions: Screening for fetal aneuploidy can be performed with good results with the blood sample taken as early as week 7 of gestation. Blood samples taken before gestational week 10 showed a high detection rate of fetal trisomy 21, with no difference in the detection of fetal trisomy 18, trisomy 13, or triploidy.

scholarly journals Effects of HIV Status and History of Pregnancy Termination on Trends of Family Planning Knowledge among Women Living in Nine Fragile Countries

2021 ◽  
Author(s):  
Daniel Woytowich ◽  
Bin Xie
Keyword(s):  
Family Planning ◽  
Pregnancy Termination ◽  
Modern Method ◽  
Hiv Status ◽  
Knowledge Gaps ◽  
Health Community ◽  
History Of ◽  
Future Pregnancy ◽  
Hiv Women ◽  
Male Sterilization

Abstract Background: To decrease the proportion of women in fragile or conflict-affected situations (FCS) that need, but are not using modern contraception, the global health community must better understand family planning (FP) knowledge gaps; and elucidate which subgroups of women are, and are not, effectively being reached with FP information. This study investigated whether women with notable sexual and reproductive health histories that put them at risk for future pregnancy complications, namely HIV+ women and women with history of terminated pregnancy (HTP), would possess more complete FP knowledge and/or recall being given FP information more readily than HIV- women and women with no HTP (NHTP), respectively. Methods: Knowledge of several contraceptive methods, and the prevalence of women who recalled being given FP information at a healthcare visit, or via TV, radio, or periodical were estimated across HIV, HTP, and country subgroups. HIV+ and HTP status were major predictors in multivariate logistic regressions analyzing the odds of knowing a specified method of contraception or of recalling being given FP information via the modes considered. Results: HIV+ as opposed to HIV- women showed significantly higher odds of knowing about the pill (p=0.001), IUD (p<0.001), injectables (p=0.005), male condoms (p<0.001), female condoms (p<0.001), and implants (p<0.001); but not female or male sterilization. HIV+ women demonstrated higher odds of recalling being given FP information at a health visit (p=0.001), whereas HTP women did not. HTP women showed higher odds (p<0.001) of knowing each modern method of FP with the exception of male sterilization and of recalling TV (p=0.01) and radio (p<0.001) FP messages. Conclusions: Notable findings were the higher FP awareness among HIV+ and HTP women, and the observation that HIV+ women were seemingly provided FP information more readily at healthcare visits than were HTP women, despite their similar risk profiles concerning future pregnancies. Subsequent studies may elucidate why these patterns were observed and indicate which other diagnostic groups are effectively being reached with FP education, and which are not. Understanding trends and predictors of FP knowledge can help practitioners better target FP counseling efforts in FCS toward knowledge gaps and their causes.

scholarly journals How to understand Holoprosencephaly

2017 ◽  
Vol 11 (4) ◽  
pp. 282-287
Author(s):  
Alexandra Munteanu ◽  
Cringu A Ionescu ◽  
Dan Navolan
Keyword(s):  
Obstet Gynecol ◽  
Fetal Brain ◽  
Axial Plane ◽  
Cerebral Hemispheres ◽  
Trisomy 13 ◽  
Facial Anomalies ◽  
Complex Structural

ABSTRACT Holoprosencephaly (HPE) is a group of complex structural malformations of the forebrain that results from complete or incomplete nonseparation of the prosencephalon that yields an incomplete division of the cerebral hemispheres and of the telencephalon from the diencephalon. According to the severity of the malformation, HPE is categorized into four subtypes: Alobar HPE, semilobar HPE, lobar HPE, and a middle interhemispheric fusion variant (syntelencephaly). The incidence of HPE is 1 in 10,000 to 15,000 births. The etiology of HPE is very heterogeneous, and the identified causes until now are: Chromosomal (most commonly trisomy 13), monogenic, and teratogenic. The first step of the diagnostics is based on the ultrasound visualization of cerebral ventricular abnormalities, on the axial plane of the fetal brain, and on the facial anomalies. How to cite this article Vladareanu R, Munteanu A, Ionescu CA, Navolan D, Vladareanu S. How to understand Holoprosencephaly. Donald School J Ultrasound Obstet Gynecol 2017;11(4):282-287.

scholarly journals CYTOGENETIC AND MOLECULAR CYTOGENETIC STUDIES ON ABORTED FOETUSES

2020 ◽  
pp. 1-3
Author(s):  
Sumitha Prabhu PS ◽  
Sharath Krishnan PV ◽  
Komala PT ◽  
Arun William ◽  
Aneesh P ◽  
...  
Keyword(s):  
Karyotype Analysis ◽  
Venous Blood ◽  
Test Group ◽  
Normal Karyotype ◽  
Chromosome Analysis ◽  
Paternal Age ◽  
Healthy Children ◽  
Control Subjects ◽  
Gestational Week ◽  
Future Pregnancy

Miscarriage is spontaneous or induced interruption of pregnancy until 20 complete weeks. Miscarriages occur in approximately 15% of diagnosed pregnancies. Achromosomal abnormality derived from one parent or the recurrence of a numerical abnormality might be a cause recurrent abortion. The present study was conducted on thirty two medically terminated foetuses with gestational week between 14 to 20 week were included as test group and eighteen healthy children of the age ranged from 2 months to 2 years as control subjects. All these aborted foetuses were referred from various infertility clinics and maternity centers of Kerala to Genetika, Centre for advanced genetic studies, Trivandrum for chromosome analysis. Various demographic, physiological, clinical and life style characteristics of the couple (parents) were collected using proforma. Karyotype analysis was performed using intracardiac puncture blood sample of the aborted foetuses and venous blood samples were collected from the control subjects to detect chromosome abnormalities, if any. Cytokinesis-Block Micronuclei (CBMN) Assay was also performed on each sample by using cytochalasin B for quantitating the extent of somatic DNAdamages. Regarding the foetal karyotype analysis, 52.94% (n=18) of the study subjects showed abnormal karyotype and 47.06% (n=16) showed normal karyotype. The mean CBMN frequency of study subject was greater than that of control subjects. The higher incidence of abnormal foetal karyotype and increased mean CBMN frequency was found among subjects with advanced maternal and paternal age. Chromosomal analysis is an important etiological investigation in couples with repeated spontaneous abortions as it helps in genetic counseling and deciding about further reproductive options. Modifying lifestyle habits and proper medication will help to avoid future pregnancy loss.

scholarly journals Effects of HIV status and history of pregnancy termination on trends of family planning knowledge among women living in nine fragile countries

2021 ◽  
Author(s):  
Daniel John Woytowich ◽  
Bin Xie
Keyword(s):  
Family Planning ◽  
Pregnancy Termination ◽  
Modern Method ◽  
Hiv Status ◽  
Knowledge Gaps ◽  
Health Community ◽  
History Of ◽  
Future Pregnancy ◽  
Hiv Women ◽  
Male Sterilization

Abstract Background: To decrease the proportion of women in fragile or conflict-affected situations (FCS) that need, but are not using modern contraception, the global health community must better understand family planning (FP) knowledge gaps; and elucidate which subgroups of women are, and are not, effectively being reached with FP information. This study investigated whether women with notable sexual and reproductive health histories that put them at risk for future pregnancy complications, namely HIV+ women and women with history of terminated pregnancy (HTP), would possess more complete FP knowledge and/or recall being given FP information more readily than HIV- women and women with no HTP (NHTP), respectively. Methods: Knowledge of several contraceptive methods, and the prevalence of women who recalled being given FP information at a healthcare visit, or via TV, radio, or periodical were estimated across HIV, HTP, and country subgroups. HIV+ and HTP status were major predictors in multivariate logistic regressions analyzing the odds of knowing a specified method of contraception or of recalling being given FP information via the modes considered. Results: HIV+ as opposed to HIV- women showed significantly higher odds of knowing about the pill (p=0.001), IUD (p<0.001), injectables (p=0.005), male condoms (p<0.001), female condoms (p<0.001), and implants (p<0.001); but not female or male sterilization. HIV+ women demonstrated higher odds of recalling being given FP information at a health visit (p=0.001), whereas HTP women did not. HTP women showed higher odds (p<0.001) of knowing each modern method of FP with the exception of male sterilization and of recalling TV (p=0.01) and radio (p<0.001) FP messages. Conclusions: Notable findings were the higher FP awareness among HIV+ and HTP women, and the observation that HIV+ women were seemingly provided FP information more readily at healthcare visits than were HTP women, despite their similar risk profiles concerning future pregnancies. Subsequent studies may elucidate why these patterns were observed and indicate which other diagnostic groups are effectively being reached with FP education, and which are not. Understanding trends and predictors of FP knowledge can help practitioners better target FP counseling efforts in FCS toward knowledge gaps and their causes.

Ten Years of Experience with First-Trimester Screening for Fetal Aneuploidy Employing Biochemistry from Gestational Weeks 6+0 to 13+6

2014 ◽  
Vol 37 (1) ◽  
pp. 51-57 ◽  
Author(s):  
Niels Tørring ◽  
Olav Bjørn Petersen ◽  
Niels Uldbjerg
Keyword(s):  
Trisomy 21 ◽  
High Performance ◽  
Protein A ◽  
First Trimester ◽  
Trisomy 13 ◽  
First Trimester Screening ◽  
Blood Samples ◽  
Fetal Aneuploidy ◽  
Trimester Screening ◽  
Gestational Week

Objectives: To validate the performance of first-trimester screening for fetal aneuploidy employing blood samples drawn in gestational weeks 6-13. Methods: Prospective combined first-trimester screening for fetal aneuploidy in Denmark was validated in two large datasets: (1) a dataset from the Central Denmark Region including 147,768 pregnancies from October 2003 to October 2013, and (2) a national dataset including 220,739 pregnancies from January 2008 to August 2011. Results: For trisomy 21, the weekly median multiple of the median (MoM) increased from 0.37 in week 6 to 0.70 in week 13 (pregnancy-associated plasma protein-A), and from 0.99 in week 6 to 2.68 in week 13 (free βhCG). The overall detection rate (DR) for fetal trisomy 21 was 91.2%. Employing blood samples from gestational week 9, the DR was 97% (p = 0.05). For fetal trisomy 18, trisomy 13 and triploidy, the overall DRs after first-trimester screening were 79.5, 86 and 85%. In the national dataset, the overall DR for trisomy 21 was 86.3% ranging from 89 (weeks 9 and 10) to 80% (weeks 12 and 13). Conclusion: The results from both datasets show that blood sampling in gestational weeks 9-10 is a robust and high-performance strategy, which can be applied for routine first-trimester screening in clinical practice.

scholarly journals An encounter with alobar holoprosencephaly: a case report

2020 ◽  
Vol 9 (7) ◽  
pp. 3069
Author(s):  
Prasanna Venugopalan ◽  
Fathima Mithilag ◽  
Vidhu V. Nair
Keyword(s):  
Pregnancy Termination ◽  
Recurrence Risk ◽  
Neurological Impairment ◽  
Cerebral Hemispheres ◽  
Facial Dysmorphism ◽  
Obstetric Ultrasound ◽  
Key Features ◽  
Diagnostic Modalities ◽  
Ocular Hypertelorism ◽  
Foetal Mri

Alobar holopresencephaly is a rare embryonic condition where there is anomalous fusion of cerebral hemispheres. The key features include neurological impairment and facial dysmorphism like cyclopia, ocular hypertelorism with divided orbits and a proboscis. Obstetric ultrasound and foetal MRI are the diagnostic modalities. Majority of cases are sporadic in origin while a genetic association is also described. A small recurrence risk is noted in cases with sporadic origin. Early diagnosis and pregnancy termination are advisable for the condition since the survival rate is very low.

scholarly journals Evaluation on the Influence of the Timing of Twin Pregnancy Termination on the Outcome of Mother and Infants

2021 ◽  
Vol 4 (2) ◽  
pp. 16
Author(s):  
Yuying Chen
Keyword(s):  
Pregnant Women ◽  
Postpartum Hemorrhage ◽  
Pregnancy Termination ◽  
Research Subjects ◽  
Infant Outcomes ◽  
Before And After ◽  
Gestational Week ◽  
The Difference ◽  
The Impact ◽  
Twin Pregnancies

Objective: To observe the maternal and infant outcomes of pregnant women with twins terminating their pregnancy at different timings.  Methods: Among the twin pregnant women admitted to our hospital from August 2019 to August 2020, 50 primiparous women who opted to terminate their pregnancies at 5 different timings of “34——34+6 weeks”, “35——35+6 weeks”, “36——36+6 weeks”, “37——37+6 weeks”, “38——38+6 weeks” were selected as the research subjects. According to the timing of pregnancy termination, they were divided into 5 groups, each with 10 cases of pregnant women, and the impact of the timing of pregnancy termination on the outcome of the mothers and infants were compared.  Results: The “37——37+6 weeks” group had the largest amount of postpartum hemorrhage, and the difference in Hb level before and after delivery was the largest. With the increase in gestational week, the weight of both large and small fetuses increased. In terms of neonatal diseases, the comparison between “34——34+6 weeks”, “35——35+6 weeks”, “36——36+6 weeks” and “37——37+6 weeks”, “38——38+6 weeks”, P＜0.05, the comparison between “37——37+6 weeks” and “38——38+6 weeks”, P>0.05.  Conclusion: The extension of the gestational week of twin pregnancies has no effect on postpartum hemorrhage, but it can improve the outcome of infants.

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