Genetic Counseling for Confined Placental Mosaicism: A Case Report

AbstractIt is a rare and underdiagnosed entity. The adagium “one only sees what one knows” is certainly true in cases of Blake's pouch cyst, as all types of posterior fossa cysts and cyst-like malformations may present nearly identical on initial imaging studies. Only one case of Blake's pouch cyst has been reported from this country, except for a case in utero, in which a diagnosis of Blake's pouch cyst was made on prenatal ultrasound and later confirmed by MRI. In this report we describe a case of Blake's pouch cyst in a 9-month-old male child along with the principles of diagnosis of Blake's pouch cyst, in combination with literature review. Differentiating Blake's pouch cyst from other posterior fossa cysts and cyst-like malformations and recognizing the accompanying hydrocephalus that are essentially noncommunicating have important implications not only on clinical management but also on genetic counseling, which is unnecessary in case of Blake's pouch cyst.

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Confined placental mosaicism in short term culture

Genetika ◽

10.2298/gensr1603955p ◽

2016 ◽

Vol 48 (3) ◽

pp. 955-961

Author(s):

Bojana Petrovic ◽

Jelena Dukanac-Stamenkovic

Keyword(s):

Genetic Counseling ◽

Perinatal Care ◽

Chromosome Analysis ◽

Chromosomal Mosaicism ◽

Special Importance ◽

Short Term ◽

Chorionic Villi ◽

Additional Chromosome ◽

Placental Mosaicism ◽

Short Term Culture

Finding of fetal chromosomal mosaicism complicates genetic counseling, as well as pregnancy management. The aim of this study was to determine the risk of confined placental mosaicism in short term culture of chorionic villous samples. We conducted a retrospective review of karyotype analysis results obtained after chorionic villous sampling (CVS) in two years period. A 420 samples of chorionic villi were taken transabdominally and obtained by a semidirect method (overnight incubating culture). All fetuses with CVS mosaicism were under the intensive perinatal care. In all cases of chromosome mosaicism the additional karyotyping was performed from fetal blood samples after 22nd gestational week in order to exclude true fetal mosaicism. After delivery newborns were examined by experienced pediatrician. From 420 analyzed samples in 11 (2,6%) cases we found placental mosaicism. No anomalies were seen in genetic sonogram of this fetuses and mosaicism was confirmed only in one case. Confined placental mosaicism (CPM) was found in 2,1% (9/420) of all analyzed cases, and it made 90% of all placental mosaicism. In 60% (6/10) of placental mosaicism cases we found mosaicism with single aberrant cell. Trisomy 21 mosaicism was the most frequent aberration found in 30% of cases. Finding of mosaicism in chorionic villi sample is at special importance for genetic counseling, because every case has to be reveled individually regarding the type and level of mosaicism. Anyway, in every case of placental mosaicism intensive antenatal monitoring is necessary, with additional chromosome analysis from different tissue in consideration of previous findings.

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THORACO-OMPHALOPAGUS CONJOINED TWINS (CASE REPORT)

Inter Collegas ◽

10.35339/ic.4.1.38-41 ◽

2017 ◽

Vol 4 (1) ◽

pp. 38-41

Author(s):

O.O. Petrenko ◽

A.O. Petrenko ◽

E.O. Harmatina

Keyword(s):

Risk Factors ◽

Genetic Counseling ◽

Case Report ◽

Formation Rate ◽

Conjoined Twins ◽

Division Process

THORACO-OMPHALOPAGUS CONJOINED TWINS (CASE REPORT)Petrenko O.O., Petrenko A.O., Harmatina E.O.Conjoined twins are formed during an impairment in embryo division process. There are some risk factors considered to increase conjoined twins’ formation rate. However, further investigation of genetic processes same as teratogenic agents involved in it is required. In this case an 18-year old patient with the first pregnancy, having no apparent teratogenic factors or family anamnesis with diagnosed conjoined twins is presented. An abortion was performed on the 13th-14th weeks of gestation. Multiple malformations of conjoined twins were studied and genetic counseling was prescribed to the patient during planning of the next pregnancy.Conjoined twins are formed during an impairment in embryo division process. There are some risk factors considered to increase conjoined twins’ formation rate. However, further investigation of genetic processes same as teratogenic agents involved in it is required. In this case an 18-year old patient with the first pregnancy, having no apparent teratogenic factors or family anamnesis with diagnosed conjoined twins is presented. An abortion was performed on the 13th-14th weeks of gestation. Multiple malformations of conjoined twins were studied and genetic counseling was prescribed to the patient during planning of the next pregnancy.Keywords: conjoined twins, thoraco-omphalopagus twins, malformations. СИАМСКИЕ БЛИЗНЕЦЫ ТОРАКООМФАЛОПАГИ (КЛИНИЧЕСКИЙ СЛУЧАЙ)Петренко А.А., Петренко А.О., Гарматина Е.А.Сиамские близнецы образуются вследствие нарушения в процессе деления эмбриона. Есть некоторые факторы риска, которые, согласно исследованиям, увеличивают частоту образования сиамских близнецов. Однако требуется дальнейшее исследование вовлечённых в процесс генетических механизмов, а также тератогенных агентов. В данном клиническом случае представлены данные 18-летней пациентки с первой беременностью, не имеющей никаких очевидных тератогенных факторов или семейного анамнеза, у которой диагностированы сиамские близнецы. Аборт производился на 13-14 неделе беременности. Были исследованы аномалии развития сиамских близнецов, пациенту было рекомендовано генетическое консультирование перед планированием следующей беременности.Ключевые слова: сиамские близнецы, торакоомфалопаги, аномалии развития. СІАМСЬКІ БЛИЗНЮКИ ТОРАКООМФАЛОПАГИ (КЛІНІЧНИЙ ВИПАДОК)Петренко О.О., Петренко А.О., Гарматіна Є.О.Сіамські близнюки утворюються внаслідок порушення в процесі ділення ембріона. Є деякі фактори ризику, які, згідно з дослідженнями, збільшують частоту утворення сіамських близнюків. Однак потрібно подальше дослідження залучених в процес генетичних механізмів, а також тератогенних агентів. В даному клінічному випадку представлені дані 18-річної пацієнтки з першою вагітністю без будь-яких очевидних тератогенних факторів або сімейного анамнезу, у якій виявилися сіамські близнюки. Аборт проводився на 13-14 тижні вагітності. Були досліджені аномалії розвитку сіамських близнюків, пацієнту було рекомендовано генетичне консультування перед плануванням наступної вагітності.Ключові слова: сіамські близнюки, торакоомфалопагі, аномалії розвитку.

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