Effects of triploidy on early human development

Philipp, Tom; Grillenberger, K.; Separovic, Evica Rajcan; Philipp, K; Kalousek, Dagmar K.

doi:10.1002/pd.789

Cited by 31 publications

(22 citation statements)

References 10 publications

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“…Usually, the extra-haploid set of chromosomes has a paternal origin. Dyginic embrios have a better chance to reach the second trimester of gestation or even to be born (10, 22). …”

Section: Discussionmentioning

confidence: 99%

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Genetic Counseling and Prenatal Diagnosis of Triploidy During the Second Trimester of Pregnancy

Kolarski¹,

Ahmetovic²,

Beres³

et al. 2017

Med Arch

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Introduction:Triploidy is a lethal chromosomal numeric abnormality, characterized on extra haploid set of chromosomes. It occurs in 2 to 3% of conceptuses and accounts for approximately 20% of chromosomally abnormal first-trimester miscarriages. As such, triploidy is estimated to occur in 1 of 3,500 pregnancies at 12 weeks’, 1 in 30,000 at 16 weeks’, and 1 in 250,000 at 20 weeks’ gestation.Case report:We present a case of second-trimester triploidy diagnosed prenataly at our center. 28-years-old gravida with a first spontaneous pregnancy had early gestational hypertension. Ultrasound examination in 146/7 weeks’ gestation revealed asymmetric intrauterine growth retardation. We recommended biochemical maternal serum screening during second trimester of pregnancy (AFP, HCG, uE3). Result of biochemical screening was indication for cytogenetic analysis from amniotic fluid cells and we recommended early amniocentesis in 156/7 weeks’ gestation. Result showed abnormal karyotype of the fetus (69,XXX triploidy), and DNA analysis confirmed Type-2 Diginy. Parents decided to terminate this pregnancy, and it was done at 22 weeks’ gestation.Conclusion:We emphasize the importance of non-invasive prenatal exminationes-biochemical serum screening during second trimester of pregnancy, and ultrasound examinations in prenatal screening of syndroma Down and other chromosomal abnormalities.

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“…Usually, the extra-haploid set of chromosomes has a paternal origin. Dyginic embrios have a better chance to reach the second trimester of gestation or even to be born (10, 22). …”

Section: Discussionmentioning

confidence: 99%

“…Syndroma Edwards and triploidy have many similar biochemical and ultrasound findings and characteristics (20, 21, 22). We have to introduce cytogenetic and PCR-DNA analysis during diagnosis and these results give us more information about genetic health of the fetus and chromosomal aberration.…”

Section: Discussionmentioning

confidence: 99%

Genetic Counseling and Prenatal Diagnosis of Triploidy During the Second Trimester of Pregnancy

Kolarski¹,

Ahmetovic²,

Beres³

et al. 2017

Med Arch

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“…In 7%, no phenotypical or cytogenetic abnormalities could be found [51]. The same group described the typical phenotype of triploidy with severe cranio-facial malformations, retarded limb development, delayed retinal pigment development, and neural tube defects [54]. Monosomy 45X is associated with microcephaly, encephalocoele, and limb retardation [55].…”

Section: Embryoscopymentioning

confidence: 99%

The use of endoscopy in fetal medicine

Beck¹,

Pexsters²,

Gucciardo³

et al. 2010

Gynecol Surg

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We aimed to review the state of affairs in the field of embryo-fetoscopy as well as its instrumental requirements. Today, endoscopic procedures of limited complexity are easily possible within the amniotic cavity. Embryoscopy is typically done for diagnostic purposes, such as the demonstration of external anomalies very early in pregnancy and/or obtaining embryonic tissues in recurrent miscarriages. Fetoscopy is the direct visualization of the amniotic cavity from the second trimester onwards. Its principal indications are complications of monochorionic twinning and severe congenital diaphragmatic hernia. There is level I evidence that fetoscopic laser surgery for twintwin-transfusion syndrome is superior over amniodrainage. Fetoscopic endoluminal tracheal occlusion is done for severe diaphragmatic hernia. Whether tracheal occlusion yields better outcomes than expectant management during pregnancies is currently being investigated in a randomized trial. There are a number of less common procedures discussed as well. Overall, maternal risks of embryofetoscopy are minimal. The most frequent complication is rupture of the membranes and as a consequence preterm delivery. Fetal surgery seems safe and has, therefore, become a clinical reality. Although the stage of technical experimentation is over, most interventions remain investigational. Inclusion of patients into trials whenever possible should be encouraged, rather than building up casuistic experience.

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“…Auch die Verschmelzung einer Eizelle mit zwei Spermien kann zu einem triploiden Feten führen [8]. Während unter Ersttrimenonaborten mit Triploidie der Anteil diandrischen Ursprungs zu überwiegen scheint [9,10], deuten neuere Untersuchungen von späteren Aborten und Lebendgeborenen mit Triploidie auf einen häufigeren digynen Ursprung [3,11 ± 14], so dass für beide Typen unterschiedliche Überlebensraten angenommen werden [15]. ein Hypertelorismus, Mikrophthalmie und andere Anomalien.…”

Section: Diskussionunclassified

Triploidie: Rasche Diagnosestellung anhand der typischen klinisch erhobenen Stigmata eines lebend geborenen extrem kleinen Frühgeborenen

Kühlwein

Steinbach²,

Barbi³

et al. 2005

Z Geburtshilfe Neonatol

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A child with complete triploidy is rarely born alive. However, owing to the advances in perinatal medicine even extremely immature preterm infants receive full support in the delivery room and are admitted to the neonatal ICU. Consequently, the clinician may also have to consider the diagnosis of triploidy when faced with a dysmorphic extremely preterm infant. We report here the smallest described live born girl of 25 + 5 weeks of gestational age with typical clinical findings of complete triploidy phenotype II. The aim of the case report is to make the neonatologist aware of this syndrome using photographs of this case as well as discussing the literature available. Prompt clinical diagnosis confirmed by chromosome analysis helps doctors and parents with the decision whether to continue promising or to limit futile life support measures.

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Effects of triploidy on early human development

Cited by 31 publications

References 10 publications

Genetic Counseling and Prenatal Diagnosis of Triploidy During the Second Trimester of Pregnancy

Genetic Counseling and Prenatal Diagnosis of Triploidy During the Second Trimester of Pregnancy

The use of endoscopy in fetal medicine

Triploidie: Rasche Diagnosestellung anhand der typischen klinisch erhobenen Stigmata eines lebend geborenen extrem kleinen Frühgeborenen

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