Apert syndrome in a first trimester fetus with diaphragmatic hernia

Mapping Intimacies ◽

10.21516/2413-1458-2020-19-1-63-67 ◽

2020 ◽

Author(s):

I.V. Novikova, N.A. Venchikova, A.A. Gusina et all

Keyword(s):

Prenatal Diagnosis ◽

Molecular Analysis ◽

Diaphragmatic Hernia ◽

First Trimester ◽

Apert Syndrome ◽

Fourth Report

Apert syndrome (AS) is one of the most commonly described craniosynostosis syndromes. Prenatal diagnosis of left diaphragmatic hernia on malformed fetus with AS at 11+5 week’s of gestation is presented. This is the fourth report of AS in association with diaphragmatic hernia. The diagnosis of AS was confirmed by a molecular analysis of FGFR2, which showed a heterozygous Ser252Trp mutation.

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A case of prenatal diagnosis of Apert syndrome: ultrasound features in first and second trimester of gestation

10.21516/2413-1458-2018-17-2-141-145 ◽

2018 ◽

Author(s):

O.A. Grammatikova, V.N. Osadshaya, I.Y. Starikova

Keyword(s):

Prenatal Diagnosis ◽

Gene Mutation ◽

Clinical Observation ◽

First Trimester ◽

Hereditary Disease ◽

Apert Syndrome ◽

Second Trimester ◽

Retrospective Assessment ◽

First Trimester Of Pregnancy ◽

Ultrasound Features

A rare congenital hereditary disease relating to the group of discraniye with the violation of ossification of a facial and brain skull, as well as various degree of intensity of syndaktylia of limbs (Apert syndrome) is presented. The patterns of gene mutation with such pathology are considered. The description of the clinical observation of the case of prenatal diagnosis of Apert syndrome, verified in the second trimester of pregnancy, including by means of 3D technologies, and the retrospective assessment of sonographic signs in the first trimester of pregnancy is presented.

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P07.02: First trimester diagnosis of congenital diaphragmatic hernia: too good or too bad?

Ultrasound in Obstetrics and Gynecology ◽

10.1002/uog.9692 ◽

2011 ◽

Vol 38 (S1) ◽

pp. 190-191

Author(s):

R. S. Abu-Rustum ◽

H. Ayoubi ◽

J. Jani

Keyword(s):

Congenital Diaphragmatic Hernia ◽

Diaphragmatic Hernia ◽

First Trimester

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Prenatal Diagnosis of Double Trisomy 48,XXX,+18 in the First Trimester

Journal of Ultrasound in Medicine ◽

10.7863/jum.2005.24.5.717 ◽

2005 ◽

Vol 24 (5) ◽

pp. 717-719 ◽

Cited By ~ 7

Author(s):

Victor Dezerega ◽

Cecilia Be ◽

Amy E. Wong ◽

Rafael Silva ◽

Waldo Sepulveda

Keyword(s):

Prenatal Diagnosis ◽

First Trimester ◽

Double Trisomy

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Prenatal diagnosis of 7 cases with uniparental disomy by utilization of single nucleotide polymorphism array

Molecular Cytogenetics ◽

10.1186/s13039-021-00537-2 ◽

2021 ◽

Vol 14 (1) ◽

Author(s):

Lili Zhou ◽

Zhaoke Zheng ◽

Yunzhi Xu ◽

Xiaoxiao Lv ◽

Chenyang Xu ◽

...

Keyword(s):

Single Nucleotide Polymorphism ◽

Prenatal Diagnosis ◽

Molecular Analysis ◽

Correct Diagnosis ◽

Snp Array ◽

Uniparental Disomy ◽

Chromosome 1 ◽

Nucleotide Polymorphism ◽

Single Nucleotide ◽

Rescue Mechanism

Abstract Background The phenotypes of uniparental disomy (UPD) are variable, which may either have no clinical impact, lead to clinical signs and symptoms. Molecular analysis is essential for making a correct diagnosis. This study involved a retrospective analysis of 4512 prenatal diagnosis samples and explored the molecular characteristics and prenatal phenotypes of UPD using a single nucleotide polymorphism (SNP) array. Results Out of the 4512 samples, a total of seven cases of UPD were detected with an overall frequency of 0.16%. Among the seven cases of UPD, two cases are associated with chromosomal aberrations (2/7), four cases (4/7) had abnormal ultrasonographic findings. One case presented with iso-UPD (14), and two case presented with mixed hetero/iso-UPD (15), which were confirmed by Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) as maternal UPD (15) associated with Prader-Willi syndrome (PWS). Four cases had iso-UPD for chromosome 1, 3, 14, and 16, respectively; this is consistent with the monosomy rescue mechanism. Another three cases presented with mixed hetero/isodisomy were consistent with a trisomy rescue mechanism. Conclusion The prenatal phenotypes of UPD are variable and molecular analysis is essential for making a correct diagnosis and genetic counselling of UPD. The SNP array is a useful genetic test in prenatal diagnosis cases with UPD.

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Prenatal diagnosis of spina bifida aperta after first-trimester valproate exposure

Prenatal Diagnosis ◽

10.1002/pd.1970121107 ◽

1992 ◽

Vol 12 (11) ◽

pp. 893-897 ◽

Cited By ~ 29

Author(s):

Juliette G. C. Omtzigt ◽

Frans J. Los ◽

Adriana M. Hagenaars ◽

Patricia A. Stewart ◽

Eva S. Sachs ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Spina Bifida ◽

First Trimester ◽

Spina Bifida Aperta

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Prenatal diagnosis, imaging, and prognosis in Congenital Diaphragmatic Hernia

Seminars in Perinatology ◽

10.1053/j.semperi.2019.07.002 ◽

2020 ◽

Vol 44 (1) ◽

pp. 51163 ◽

Cited By ~ 3

Author(s):

Anne-Gael Cordier ◽

Francesca M. Russo ◽

Jan Deprest ◽

Alexandra Benachi

Keyword(s):

Prenatal Diagnosis ◽

Congenital Diaphragmatic Hernia ◽

Diaphragmatic Hernia

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Maternal dietary intake of vitamin A during pregnancy was inversely associated with congenital diaphragmatic hernia: the Japan Environment and Children’s Study

British Journal Of Nutrition ◽

10.1017/s0007114519002204 ◽

2019 ◽

Vol 122 (11) ◽

pp. 1295-1302 ◽

Cited By ~ 2

Author(s):

Takehiro Michikawa ◽

Shin Yamazaki ◽

Makiko Sekiyama ◽

Tatsuo Kuroda ◽

Shoji F. Nakayama ◽

...

Keyword(s):

Vitamin A ◽

Congenital Diaphragmatic Hernia ◽

Diaphragmatic Hernia ◽

Dietary Habits ◽

Daily Intake ◽

First Trimester ◽

Dietary Vitamin ◽

Birth Cohort Study ◽

Case Control Studies ◽

Total Vitamin

AbstractThe pathogenesis of congenital diaphragmatic hernia (CDH) is largely unknown; however, vitamin A seems to play a role in diaphragmatic development. Previous case–control studies reported that maternal dietary vitamin A intake was inversely associated with the risk of CDH. To our knowledge, however, there is no prospective evidence regarding this association. Our aim was to examine whether maternal intake of vitamin A was associated with CDH occurrence. Baseline data, from the Japan nationwide birth cohort study (2011–2014) of 89 658 mothers (mean age at delivery = 31·2 years) who delivered singleton live births, were analysed. We assessed dietary habits using an FFQ focused on the first trimester and estimated the daily intake of total vitamin A (retinol activity equivalents), retinol, provitamin A carotenoids and vegetables. The occurrence of CDH was ascertained from medical records. A total of forty cases of CDH were documented. The adjusted OR of CDH occurrence for the high total vitamin A intake category (median = 468 μg/d) was 0·6 (95 % CI 0·3, 1·2) with reference to the low intake category (230 μg/d). When we restricted to mothers with a prepregnancy BMI of 18·5–24·9 kg/m2, vitamin A intake was inversely associated with the risk of their children being born with CDH (OR 0·5, 95 % CI 0·2, 1·0). Even given the limited number of cases in the study, our findings provide additional evidence to link vitamin A with CDH.

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