Genetic counseling in chromosomal abnormalities

Bansal, Vandana; Seshadri, Suresh; Suresh, Indrani; Jagadeesh, Sujatha; Fazal, GazalaJabeen

doi:10.4103/0976-1756.62136

Cited by 5 publications

(8 citation statements)

References 2 publications

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“…Nowadays, it is assumed that the reduced fertility of the translocation carriers is the reason for pregnancies at increased maternal age that leads to an elevated risk for pregnancies with trisomy 21 [ 6 , 15 , 16 ]. Translocation of chromosome 21 (4.0% of Down Syndrome) recurrence risk varies between 10.0–25.0%, if one parent is a carrier of a translocation comprising chromosome 21 [ 12 ]. The risk of unbalanced translocation in the offspring will depend on both the type of translocation in the parents, and which parent is affected and whether the translocation is between homologous or non homologous chromosomes.…”

Section: Discussionmentioning

confidence: 99%

“…More than 50.0% of the translocations in a fetus are de novo . So if parents have a normal karyotype, no matter what type of translocation in the fetus, recurrence risk is minimal <1.0% [ 12 ]. We may then expect carriers of balanced parental structural rearrangements to be at a greater risk of having an offspring with a distinct aneuploidy.…”

Section: Discussionmentioning

confidence: 99%

“…Pure trisomy due to non disjunction of chromosome 21 is responsible for 96.0% of Down Syndrome with a recurrence risk of less than 1.0%. Parental karyotype is not required in non disjunction type of trisomies [ 12 – 15 ].…”

Section: Introductionmentioning

confidence: 99%

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Inheritance of a Chromosome 3 and 21 Translocation in the Fetuses, With One Also Having Trisomy 21, in Three Pregnancies in One Family

Pazarbaşı

Demırhan

Alptekin

et al. 2013

Balkan Journal of Medical Genetics

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The majority of chromosome rearrangements are balanced reciprocal and Robertsonian translocations. It is now known that such abnormalities cause no phenotypic effect on the carrier but lead to increased risk of producing unbalanced gametes. Here, we report the inheritance of a translocation between chromosomes 3 and 21 in a family with one of two fetuses with Down Syndrome carrying the same translocation and the other also carrying the same translocation without the additional chromosome 21. Chromosomal analysis from fetal amniotic fluid and peripheral blood lymphocytes from the family were performed at the Çukurova University Hospital at Adana, Turkey. We assessed a family in which the translocation between chromosomes 3 and 21 segregates: one of the three progenies carried the 47,XX,+21,t(3;21)(q21;q22) karyotype and presented with Down Syndrome; another of the three progenies carried the 46,XX,t(3;21) (q21;q22) karyotype and the third had the 46,XY karyotype. Their mother is phenotypically normal. Apparently this rearrangement occurred due to an unbalanced chromosome segregation of the mother [t(3;21)(q21;q22)mat]. This family will enable us to explain the behavior of segregation patterns and the mechanism for each type of translocation from carrier to carrier and their effects on reproduction and numerical aberrations. These findings can be used in clinical genetics and may be used as an effective tool for reproductive guidance and genetic counseling.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Inheritance of a Chromosome 3 and 21 Translocation in the Fetuses, With One Also Having Trisomy 21, in Three Pregnancies in One Family

Pazarbaşı

Demırhan

Alptekin

et al. 2013

Balkan Journal of Medical Genetics

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“…All pregnancies carry a baseline risk of 3-4% for major congenital anomalies [77]. Analysis of circulating fetal DNA in maternal plasma is useful for NIPD of chromosomal aneuploidies [37,41], sex-linked disorders [74], -thalassemia [35], fetal RhD status [78], preeclampsia (PE), and detection of paternally inherited disease-causing sequences in maternal plasma [40].…”

Section: Applications Of Cffdnamentioning

confidence: 99%

Fetal Nucleic Acids in Maternal Circulation: A Genetic Resource for Noninvasive Prenatal Diagnosis

Banerjee

Misra

2013

ISRN Genetics

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Invasive prenatal diagnosis (PND) holds a multitude of psychological considerations for women, their partners, family and community as a whole. Earlier, the non-invasive screening methods for certain disorders were serum analytes or ultrasound with low sensitivity and high false positivity. e discovery of fetal DNA in maternal plasma has opened up an approach for noninvasive PND (NIPD). Presence of fetal cells and cell-free fetal DNA (cffDNA) in the blood of pregnant women has been accepted universally and constant efforts are being made to enrich fetal DNA from maternal blood/plasma. Real-time quantitative polymerase chain reaction (qrt-PCR) has enabled fetal DNA to serve as a marker for chromosomal abnormalities, for example, trisomy 21, preterm labor, and preeclampsia. In India, PND is provided in few centers since invasive methods require trained gynecologists, this limits investigation and therefore NIPD with cffDNA from mother's blood will revolutionize fetal medicine. e present paper deals with the latest developments in procurement of cffDNA, the probable source and enrichment of fetal DNA in maternal plasma, and the current status of its detection methodologies, applications, and its potential to be used as a powerful diagnostic tool.

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“…All pregnancies carry a baseline risk of 3 % to 4 % for major congenital anomalies so the etiology for birth defects include chromosomal, single gene or Mendelian disorders, multifactorial, teratogenic or environmental effects (1). this frequency is much higher in the early stages of pregnancy, because serious malformations and genetic disorders usually lead to spontaneous abortion (7,16).…”

Section: Introductionmentioning

confidence: 99%