Increased nuchal translucency in the presence of normal chromosomes

Alamillo, Christina; Fiddler, Morris; Pergament, Eugene

doi:10.1097/gco.0b013e3283505b25

Cited by 31 publications

(21 citation statements)

References 37 publications

(35 reference statements)

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“…When fetal congenital abnormalities are identified on prenatal ultrasound, karyotype and CMA reveal a diagnosis in up to 20–30% 7, 23 , depending on the type of structural defect. For the remainder, single-gene tests or gene panels, such as testing for Noonan syndrome when there is an increased nuchal translucency in a fetus with a normal karyotype 126, 127 , may be useful, but very recent data suggest that diagnostic WES can provide answers in a substantial proportion of the remaining cases 7 . For WES, the majority of coding exons, which represent only 2% of the genome but contain 85% of disease-causing mutations, are sequenced.…”

Section: Prenatal Whole-exome Sequencing Will Change Our Ability To Imentioning

confidence: 99%

Recent advances in prenatal genetic screening and testing

Veyver

2016

F1000Res

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The introduction of new technologies has dramatically changed the current practice of prenatal screening and testing for genetic abnormalities in the fetus. Expanded carrier screening panels and non-invasive cell-free fetal DNA-based screening for aneuploidy and single-gene disorders, and more recently for subchromosomal abnormalities, have been introduced into prenatal care. More recently introduced technologies such as chromosomal microarray analysis and whole-exome sequencing can diagnose more genetic conditions on samples obtained through amniocentesis or chorionic villus sampling, including many disorders that cannot be screened for non-invasively. All of these options have benefits and limitations, and genetic counseling has become increasingly complex for providers who are responsible for guiding patients in their decisions about screening and testing before and during pregnancy.

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Section: Prenatal Whole-exome Sequencing Will Change Our Ability To Imentioning

confidence: 99%

Recent advances in prenatal genetic screening and testing

Veyver

2016

F1000Res

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“…A TN está aumentada em cerca de 4,5% dos fetos cromossomicamente normais 15 , os quais permanecem, porém, com risco elevado de defeitos estruturais, principalmente cardíacos, e resultados gestacionais adversos, como abortamento, óbito fetal ou neonatal, síndromes genéticas e atraso no desenvolvimento neurológico [16][17][18][19][20][21][22] . Em um estudo com 179 fetos com o cariótipo normal e a TN acima do percentil 99, foram encontradas, entre os 162 nascidos vivos acompanhados até os 2 anos de idade, alterações em 11%, sendo metade com defeitos cardíacos [23][24][25] .…”

Section: Introductionunclassified

Evolução perinatal e pediátrica de crianças com translucência nucal aumentada e cariótipo normal

Vieira¹,

Silva²,

Faria³

et al. 2013

Rev. Bras. Ginecol. Obstet.

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(45,6%). Nos fetos com cariótipo normal, houve um abortamento na 15ª semana gestacional com pentalogia de Cantrel, um óbito na 24ª semana com diversas anomalias estruturais, um óbito neonatal sem causa definida e dois casos de comunicação intraventricular (CIV) detectados no ECO fetal. Na avaliação ecocardiográfica pós-natal, persistiu um caso de CIV e foi diagnosticado um caso de comunicação interatrial (CIA) e persistência do canal arterial (PCA). Entre os 40 casos sobreviventes, apenas 1 criança apresentou atraso no desenvolvimento da fala e outra apresentou quadro de autismo. Os demais casos resultaram em desenvolvimento neuropsicomotor normal. CONCLUSÃO: No acompanhamento dos fetos com TN aumentada e cariótipo normal, os pais podem ser mais bem aconselhados de que, frente a um exame morfológico-ecocardiográfico do 2° trimestre sem alterações, a probabilidade de a criança nascer viva e bem é alta (93,5%). Abstract PURPOSE:To analyze the perinatal and pediatric outcome of fetuses that showed nuchal translucency (NT) above the 95th percentile (P95) and a normal karyotype in order to obtain data allowing better maternal prenatal counseling. METHODS: fetuses from a tertiary obstetric service with an NT above P95 and a normal karyotype were analyzed between 2005 and 2011. We analyzed gestational ultrasound follow-up, fetal and postnatal echocardiography (ECHO), weight, length and Apgar score at birth, and neuropsychomotor development by the Ages and Stages Questionnaire (ASQ) up to July 2012. RESULTS: During this period, there were 116 cases of nuchal translucency above the 95th percentile, and the fetal karyotype was determined in 79 of them (68%). Forty-three analyses were normal (54.4%) and 36 were altered (45.6%). Among the fetuses with a normal karyotype, one was miscarried at 15 weeks of gestation with Cantrel pentalogy and one died at 24 weeks with several structural abnormalities. There was one neonatal death of unknown cause and two cases of intraventricular communication (IVC) detected by fetal ECHO. Postnatal echocardiography revealed the persistence of IVC in one case and one case of atrial septal defect (ASD) and patent ductus arteriosus (PDA). Of the 40 surviving children, only 1 showed delayed speech development and another presented autism. The remaining cases resulted in normal neurodevelopment. CONCLUSION: During the monitoring of fetuses with increased NT and a normal karyotype, parents can be best advised that when a 2 nd trimester morphologicalechocardiography ultrasound study is normal, the probability of the child being born alive and well is high (93.5%).

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“…Most of these panels are not specifically designed for prenatal diagnosis and not all diagnostic laboratories accept prenatal samples for gene-panel tests, but they have been used in selected cases. The best examples are panels containing genes for Noonan syndrome, which are available for prenatal diagnosis and can be useful when an increased nuchal translucency measurement is found by first trimester sonog-raphy or when there are cardiac defects in the fetus, for example, pulmonic stenosis, that are consistent with this diagnosis (Alamillo et al 2012;Chen et al 2014;Lepri et al 2014). Skeletal dysplasia panels can be useful to differentiate between prenatally detected skeletal dysplasias, which can be important for counseling about neonatal survival prognosis and recurrence risk (Korf 2013).…”

Section: Prenatal Gene Panel and Exome Sequencing On Chorionic Villusmentioning

confidence: 99%